#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCMH1	22955	broad.mit.edu	37	1	41503177	41503177	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:41503177G>A	ENST00000326197.7	-	12	1804	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000472037.1_5'Flank|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000402904.2_Missense_Mutation_p.S502F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTTCCAAGGAGCGGGCCAG	0.532																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1504-1506)tCc>tTc		sex comb on midleg homolog 1 (Drosophila)							199.0	184.0	189.0					1																	41503177		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41503177G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1505C>T	1.37:g.41503177G>A	ENSP00000318094:p.Ser502Phe		Somatic				SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F	p.S502F	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			13	1873	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	502						Missense_Mutation	SNP	ENST00000326197.7	37	c.1505C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433792	0.62955	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.25579	2.15;1.79;2.22;2.12;2.13;2.13;2.15;2.13;2.12;2.22;2.22	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.25606	0.0623	L	0.27053	0.805	0.42916	D	0.994278	P;P;P;P	0.48016	0.894;0.828;0.904;0.836	B;B;P;B	0.47981	0.367;0.299;0.563;0.326	T	0.02713	-1.1120	10	0.59425	D	0.04	.	14.5889	0.68347	0.0:0.0:1.0:0.0	.	344;512;455;502	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	F	455;344;502;482;441;441;455;441;512;441;502	ENSP00000354996:S455F;ENSP00000403974:S344F;ENSP00000386079:S502F;ENSP00000380359:S482F;ENSP00000380356:S441F;ENSP00000354656:S441F;ENSP00000361678:S455F;ENSP00000361677:S441F;ENSP00000337352:S512F;ENSP00000361676:S441F;ENSP00000318094:S502F	ENSP00000318094:S502F	S	-	2	0	SCMH1	41275764	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.655000	0.67981	2.674000	0.91012	0.655000	0.94253	TCC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			24	80	24	80	---	---	---	---
S100A8	6279	broad.mit.edu	37	1	153362588	153362588	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:153362588G>T	ENST00000368733.3	-	3	442	c.273C>A	c.(271-273)caC>caA	p.H91Q	S100A8_ENST00000477801.1_5'Flank|S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	91				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			GCTACTCTTTGTGGCTTTCTT	0.468																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(271-273)caC>caA		S100 calcium binding protein A8							109.0	111.0	111.0					1																	153362588		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362588G>T	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.273C>A	1.37:g.153362588G>T	ENSP00000357722:p.His91Gln		Somatic				S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	p.H91Q	NM_002964.4	NP_002955.2	WXS	Illumina GAIIx	Phase_I	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	442	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91	VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).				A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.273C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	G	3.559	-0.090004	0.07053	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.05319	3.46;3.46	4.52	4.52	0.55395	EF-hand-like domain (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.20307	N	0.999919	P	0.34662	0.462	B	0.36534	0.227	T	0.46679	-0.9174	8	0.16896	T	0.51	.	13.0476	0.58935	0.0:0.0:1.0:0.0	.	91	P05109	S10A8_HUMAN	Q	91	ENSP00000357722:H91Q;ENSP00000357721:H91Q	ENSP00000357721:H91Q	H	-	3	2	S100A8	151629212	0.746000	0.28272	0.420000	0.26596	0.170000	0.22686	3.817000	0.55668	2.798000	0.96311	0.650000	0.86243	CAC		0.468	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		18	88	18	88	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					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						GAAACTTTTGCCAACAAAAGC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(1129-1131)gCc>gTc		RAN binding protein 2							200.0	215.0	210.0					2																	109365442		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365442C>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.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val		Somatic					p.A377V	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			9	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	301	5	301	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125547510	125547510	+	Silent	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:125547510A>G	ENST00000431078.1	+	18	3145	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	927	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)		AAGGCTTCCTAGGATGCATTC	0.463																																						ENST00000431078.1																			0				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						c.(2779-2781)ctA>ctG		contactin associated protein-like 5							55.0	54.0	54.0					2																	125547510		1988	4173	6161	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547510A>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.2781A>G	2.37:g.125547510A>G			Somatic					p.L927L	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3145	+			927			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2781A>G	CCDS46401.1																																																																																				0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	34	11	34	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128917179	128917179	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128917179C>T	ENST00000259253.6	+	23	2494	c.2447C>T	c.(2446-2448)gCa>gTa	p.A816V	UGGT1_ENST00000375990.3_Missense_Mutation_p.A792V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	816					'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						GCAATCTGGGCAGCTCTCCAA	0.478																																						ENST00000375990.3																			0				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						c.(2374-2376)gCa>gTa		UDP-glucose glycoprotein glucosyltransferase 1							98.0	99.0	99.0					2																	128917179		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128917179C>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.2447C>T	2.37:g.128917179C>T	ENSP00000259253:p.Ala816Val		Somatic				UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V	p.A792V			WXS	Illumina GAIIx	Phase_I	Q9NYU2	UGGG1_HUMAN			23	2778	+			816					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2375C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448915	0.96205	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.4	5.4	0.78164	.	0.154927	0.64402	D	0.000020	T	0.46268	0.1384	M	0.82323	2.585	0.80722	D	1	B;P	0.45594	0.171;0.862	B;B	0.44278	0.193;0.445	T	0.51148	-0.8742	9	.	.	.	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	792;816	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	792;816	ENSP00000365158:A792V;ENSP00000259253:A816V	.	A	+	2	0	UGGT1	128633649	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.315000	0.78998	2.696000	0.92011	0.557000	0.71058	GCA		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	63	16	63	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621499	118621499	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr3:118621499G>A	ENST00000393775.2	-	7	1469	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	IGSF11_ENST00000441144.2_Silent_p.S363S|IGSF11_ENST00000354673.2_Silent_p.S387S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000491903.1_Silent_p.S360S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	388			S -> N (in dbSNP:rs34908332).		cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGAGCCATTGCTCCTGGACA	0.527																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1159-1161)agC>agT		immunoglobulin superfamily, member 11							132.0	100.0	111.0					3																	118621499		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621499G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1164C>T	3.37:g.118621499G>A			Somatic				IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000441144.2_Silent_p.S363S	p.S387S	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			9	1541	-			388					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1161C>T	CCDS46891.1																																																																																				0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			14	40	14	40	---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6302392	6302392	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr4:6302392G>A	ENST00000226760.1	+	8	1040	c.870G>A	c.(868-870)aaG>aaA	p.K290K	WFS1_ENST00000503569.1_Silent_p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	290					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)		AGGTGGTCAAGTACCCCCTGC	0.617																																						ENST00000226760.1																			0				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						c.(868-870)aaG>aaA		Wolfram syndrome 1 (wolframin)							137.0	119.0	125.0					4																	6302392		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302392G>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.870G>A	4.37:g.6302392G>A			Somatic				WFS1_ENST00000503569.1_Silent_p.K290K	p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	WXS	Illumina GAIIx	Phase_I	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1040	+			290					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.870G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	0.071	-1.202685	0.01581	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.45	2.34	0.29019	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-17.8313	4.2006	0.10464	0.5304:0.0:0.4696:0.0	.	.	.	.	N	168	.	.	S	+	2	0	WFS1	6353293	1.000000	0.71417	0.996000	0.52242	0.332000	0.28634	1.480000	0.35464	0.869000	0.35703	0.556000	0.70494	AGT		0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			11	19	11	19	---	---	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95067675	95067675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:95067675G>T	ENST00000379982.3	+	2	623	c.115G>T	c.(115-117)Gag>Tag	p.E39*	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*|RHOBTB3_ENST00000515852.1_3'UTR	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	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)		CTCCGGGGACGAGAGCAGCTT	0.642																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(115-117)Gag>Tag		Rho-related BTB domain containing 3							57.0	52.0	54.0					5																	95067675		2203	4300	6503	SO:0001587	stop_gained	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067675G>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.115G>T	5.37:g.95067675G>T	ENSP00000369318:p.Glu39*		Somatic				RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*	p.E39*	NM_014899.3	NP_055714.3	WXS	Illumina GAIIx	Phase_I	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	623	+		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)	39			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Nonsense_Mutation	SNP	ENST00000379982.3	37	c.115G>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774001	0.96922	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	.	.	.	4.86	4.86	0.63082	.	0.275955	0.34268	N	0.004115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.0894	15.2593	0.73610	0.0:0.0:1.0:0.0	.	.	.	.	X	45;39;39	.	ENSP00000369318:E39X	E	+	1	0	RHOBTB3	95093431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.396000	0.81511	0.557000	0.71058	GAG		0.642	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	36	3	36	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70071345	70071345	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:70071345G>A	ENST00000370598.1	+	29	5001	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	BAI3_ENST00000546190.1_Missense_Mutation_p.D358N|BAI3_ENST00000238918.8_Missense_Mutation_p.D600N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1394					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)				TGAGTTGGATGATAATGCAGG	0.403																																						ENST00000370598.1																			0				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						c.(4180-4182)Gat>Aat		brain-specific angiogenesis inhibitor 3							102.0	107.0	106.0					6																	70071345		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071345G>A	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.4180G>A	6.37:g.70071345G>A	ENSP00000359630:p.Asp1394Asn		Somatic				BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	p.D1394N	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			29	5001	+		all_lung(197;0.212)	1394					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4180G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708064	0.48412	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.093649	0.64402	D	0.000001	T	0.02848	0.0085	N	0.22421	0.69	0.52099	D	0.999945	B;B	0.26635	0.155;0.0	B;B	0.26614	0.071;0.0	T	0.52895	-0.8514	10	0.23891	T	0.37	.	20.1141	0.97919	0.0:0.0:1.0:0.0	.	600;1394	B7Z356;O60242	.;BAI3_HUMAN	N	1394;600;358	ENSP00000359630:D1394N;ENSP00000238918:D600N;ENSP00000441821:D358N	ENSP00000238918:D600N	D	+	1	0	BAI3	70128066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.766000	0.95052	0.650000	0.86243	GAT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			27	49	27	49	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152453342	152453342	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:152453342G>A	ENST00000367255.5	-	144	26610	c.26009C>T	c.(26008-26010)tCt>tTt	p.S8670F	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8670	Ser-rich.				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)		AGACCAGGAAGACAAATCCTA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(26008-26010)tCt>tTt		spectrin repeat containing, nuclear envelope 1							144.0	130.0	135.0					6																	152453342		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152453342G>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.26009C>T	6.37:g.152453342G>A	ENSP00000356224:p.Ser8670Phe	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F	p.S8670F	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	144	26610	-		Ovarian(120;0.0955)	8670			Ser-rich.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.26009C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051727	0.93793	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58210	0.44;4.52;1.34;0.45;0.35;0.45;0.54;2.41;1.5;4.52	5.75	5.75	0.90469	.	0.000000	0.49916	D	0.000130	T	0.66356	0.2781	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;P	0.71674	0.997;0.997;0.998;0.997;0.751	P;P;D;D;B	0.68483	0.851;0.851;0.958;0.909;0.395	T	0.63773	-0.6561	10	0.45353	T	0.12	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	8670;8670;8622;8622;872	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8670;825;1316;8622;8670;8622;8282;3194;855;850;1615;848	ENSP00000356224:S8670F;ENSP00000441052:S825F;ENSP00000356226:S1316F;ENSP00000396024:S8622F;ENSP00000265368:S8670F;ENSP00000390975:S8622F;ENSP00000341887:S8282F;ENSP00000349276:S3194F;ENSP00000356220:S1615F;ENSP00000346701:S848F	ENSP00000265368:S8670F	S	-	2	0	SYNE1	152495035	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.230000	0.95299	2.719000	0.93026	0.655000	0.94253	TCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	86	24	86	---	---	---	---
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																						ENST00000321764.3																			2	Substitution - coding silent(2)	p.F67F(2)	lung(2)	large_intestine(1)|lung(6)	7						c.(199-201)ttC>ttT		carbonic anhydrase XIII							171.0	171.0	171.0					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.201C>T	8.37:g.86163132C>T			Somatic				CA13_ENST00000517298.1_3'UTR	p.F67F	NM_198584.2	NP_940986.1	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			2	503	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		5	221	5	221	---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80923474	80923474	+	Silent	SNP	T	T	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:80923474T>C	ENST00000376588.3	+	6	783	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	PSAT1_ENST00000347159.2_Silent_p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	239					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AAACAGCTCCTTGTACAACAC	0.537																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(715-717)Ttg>Ctg		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						94.0	77.0	83.0					9																	80923474		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923474T>C	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.715T>C	9.37:g.80923474T>C			Somatic				PSAT1_ENST00000347159.2_Silent_p.L239L	p.L239L	NM_058179.2	NP_478059.1	WXS	Illumina GAIIx	Phase_I	Q9Y617	SERC_HUMAN			6	783	+			239					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.715T>C	CCDS6660.1																																																																																				0.537	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		3	59	3	59	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135153581	135153581	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:135153581T>G	ENST00000224140.5	-	21	6900	c.6718A>C	c.(6718-6720)Aat>Cat	p.N2240H	SETX_ENST00000372169.2_Missense_Mutation_p.N2240H|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2240					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)		TGTTCTACATTCTCTTCCAGC	0.453																																						ENST00000372169.2																			0				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						c.(6718-6720)Aat>Cat		senataxin							176.0	156.0	163.0					9																	135153581		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153581T>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.6718A>C	9.37:g.135153581T>G	ENSP00000224140:p.Asn2240His		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.N2240H|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H	p.N2240H			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6900	-		Myeloproliferative disorder(178;0.204)	2240					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6718A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310270	0.60414	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91011	-2.16;-2.77;-2.24;-1.89	5.87	2.19	0.27852	.	0.935070	0.09027	N	0.859291	D	0.88429	0.6434	L	0.39898	1.24	0.09310	N	1	B;P;P	0.49696	0.329;0.927;0.911	B;P;P	0.52109	0.208;0.69;0.562	T	0.77739	-0.2475	10	0.62326	D	0.03	.	2.2649	0.04076	0.1287:0.0912:0.2418:0.5384	.	2240;2240;2240	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2240;482;2240;2240	ENSP00000224140:N2240H;ENSP00000409143:N482H;ENSP00000361242:N2240H;ENSP00000376913:N2240H	ENSP00000224140:N2240H	N	-	1	0	SETX	134143402	0.237000	0.23815	0.312000	0.25196	0.980000	0.70556	1.200000	0.32247	0.427000	0.26145	0.528000	0.53228	AAT		0.453	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	77	16	77	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79571813	79571813	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:79571813G>A	ENST00000372391.2	-	22	4196	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.F1057F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1397	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			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)			TTATGCCGTTGAACTGGGGAA	0.647																																						ENST00000372391.2																			0				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						c.(4189-4191)ttC>ttT		discs, large homolog 5 (Drosophila)							66.0	60.0	62.0					10																	79571813		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571813G>A	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.4191C>T	10.37:g.79571813G>A			Somatic				DLG5_ENST00000372388.2_Silent_p.F1057F|DLG5_ENST00000459739.1_5'UTR	p.F1397F	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4196	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1397			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4191C>T	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	43	10	43	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85992631	85992631	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:85992631C>T	ENST00000372105.3	-	4	945	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	308	Ig-like C2-type.					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						GAGTCCAGCTCGTGCCGTCAC	0.572																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(922-924)acG>acA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							26.0	25.0	25.0					10																	85992631		2181	4278	6459	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992631C>T	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.924G>A	10.37:g.85992631C>T			Somatic					p.T308T	NM_015613.2	NP_056428.1	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			4	945	-			308			Ig-like C2-type.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.924G>A	CCDS7373.1																																																																																				0.572	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		8	30	8	30	---	---	---	---
MORN4	118812	broad.mit.edu	37	10	99376049	99376049	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:99376049A>T	ENST00000307450.6	-	5	575	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.S196T|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	138										large_intestine(1)|lung(1)|stomach(2)	4						GCTGACTTGGAGGCGCTCTGG	0.532																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(586-588)Tcc>Acc		MORN repeat containing 4							62.0	59.0	60.0					10																	99376049		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376049A>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.412T>A	10.37:g.99376049A>T	ENSP00000307636:p.Ser138Thr		Somatic				PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T	p.S196T			WXS	Illumina GAIIx	Phase_I	Q8NDC4	MORN4_HUMAN			4	585	-			138					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.586T>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862519	0.71949	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.59638	0.68;0.25	5.03	5.03	0.67393	.	0.057529	0.64402	D	0.000001	T	0.65270	0.2675	L	0.40543	1.245	0.45946	D	0.998771	D;B	0.69078	0.997;0.39	P;B	0.60789	0.879;0.054	T	0.68577	-0.5372	10	0.66056	D	0.02	-11.5381	14.9245	0.70866	1.0:0.0:0.0:0.0	.	196;138	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	T	138;138;196	ENSP00000307636:S138T;ENSP00000335498:S196T	ENSP00000307636:S138T	S	-	1	0	MORN4	99366039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.875000	0.56108	2.119000	0.64992	0.459000	0.35465	TCC		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		3	32	3	32	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117052521	117052521	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:117052521A>G	ENST00000324225.4	+	3	836		c.e3-1		SIDT2_ENST00000431081.2_Splice_Site|SIDT2_ENST00000530948.1_Splice_Site	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCGGGCCATAGGTTTCAGCG	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.e3-1		SID1 transmembrane family, member 2							80.0	81.0	81.0					11																	117052521		2201	4296	6497	SO:0001630	splice_region_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117052521A>G	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.306-1A>G	11.37:g.117052521A>G			Somatic	OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000431081.2_Splice_Site|SIDT2_ENST00000530948.1_Splice_Site		NM_001040455.1	NP_001035545.1	WXS	Illumina GAIIx	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	836	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Splice_Site	SNP	ENST00000324225.4	37		CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840103	0.71488	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1236	0.72465	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT2	116557731	1.000000	0.71417	0.966000	0.40874	0.853000	0.48598	7.929000	0.87595	2.161000	0.67846	0.459000	0.35465	.		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	Intron	3	55	3	55	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7048124	7048124	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:7048124C>G	ENST00000356654.4	+	7	3235	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1000					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						GCCCCTGGAGCGAGAACGTCT	0.682																																						ENST00000356654.4																			0				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						c.(2998-3000)Cga>Gga		atrophin 1							46.0	55.0	52.0					12																	7048124		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048124C>G	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.2998C>G	12.37:g.7048124C>G	ENSP00000349076:p.Arg1000Gly		Somatic				ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	p.R1000G	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			7	3235	+			1000					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2998C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360027	0.41801	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.70631	-0.5;-0.5;-0.5	4.82	2.81	0.32909	.	0.000000	0.30620	U	0.009237	T	0.77184	0.4093	L	0.57536	1.79	0.47245	D	0.999362	D	0.57899	0.981	P	0.57283	0.817	T	0.79152	-0.1921	10	0.72032	D	0.01	.	14.0698	0.64852	0.5728:0.4272:0.0:0.0	.	1000	P54259	ATN1_HUMAN	G	1000;1000;1000;585	ENSP00000349076:R1000G;ENSP00000379915:R1000G;ENSP00000441744:R1000G	ENSP00000229279:R585G	R	+	1	2	ATN1	6918385	0.996000	0.38824	0.993000	0.49108	0.132000	0.20833	0.558000	0.23469	0.618000	0.30179	0.650000	0.86243	CGA		0.682	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22	84	22	84	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91347894	91347894	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:91347894C>T	ENST00000358859.2	-	1	1059	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	209																	CTCCTGCTGACGCTCCACCTT	0.647																																						ENST00000358859.2																			0											c.(625-627)cGt>cAt		coiled-coil glutamate-rich protein 1							81.0	85.0	84.0					12																	91347894		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347894C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.626G>A	12.37:g.91347894C>T	ENSP00000351727:p.Arg209His		Somatic				CCER1_ENST00000548187.1_Intron	p.R209H	NM_152638.2	NP_689851.1	WXS	Illumina GAIIx	Phase_I					1	1059	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.626G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248913	0.39797	.	.	ENSG00000197651	ENST00000358859	T	0.36157	1.27	4.46	3.57	0.40892	.	0.000000	0.35040	N	0.003497	T	0.42494	0.1205	L	0.27053	0.805	0.28195	N	0.927583	D	0.89917	1.0	D	0.87578	0.998	T	0.19095	-1.0316	10	0.72032	D	0.01	-17.1838	8.0531	0.30589	0.0:0.7542:0.0:0.2458	.	209	Q8TC90	CL012_HUMAN	H	209	ENSP00000351727:R209H	ENSP00000351727:R209H	R	-	2	0	C12orf12	89872025	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	1.232000	0.32636	1.096000	0.41439	-0.355000	0.07637	CGT		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	95	12	95	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817506	43817506	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43817506A>G	ENST00000300231.5	+	4	4285	c.3835A>G	c.(3835-3837)Atc>Gtc	p.I1279V	MAP1A_ENST00000382031.1_Missense_Mutation_p.I1517V|MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1279					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)	ACAGACAGACATCACAGATGA	0.542																																						ENST00000382031.1																			0				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						c.(4549-4551)Atc>Gtc		microtubule-associated protein 1A	Estramustine(DB01196)						94.0	103.0	100.0					15																	43817506		2139	4260	6399	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817506A>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.3835A>G	15.37:g.43817506A>G	ENSP00000300231:p.Ile1279Val		Somatic				MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V	p.I1517V			WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4580	+		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)	1279					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4549A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031437	0.19590	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01335	5.0;5.01;5.01	4.89	-8.13	0.01073	.	.	.	.	.	T	0.01254	0.0041	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49263	-0.8958	9	0.17369	T	0.5	0.0	1.1362	0.01755	0.141:0.2854:0.2147:0.3589	.	1279	P78559	MAP1A_HUMAN	V	1517;1279;1279	ENSP00000371462:I1517V;ENSP00000382380:I1279V;ENSP00000300231:I1279V	ENSP00000300231:I1279V	I	+	1	0	MAP1A	41604798	0.000000	0.05858	0.006000	0.13384	0.170000	0.22686	-0.999000	0.03697	-0.997000	0.03450	-0.490000	0.04691	ATC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	39	4	39	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23116855	23116855	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:23116855G>C	ENST00000219689.7	-	5	995	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			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)		TCCTCATGCAGTGAGAACATT	0.433																																						ENST00000219689.7																			0				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						c.(994-996)caC>caG		ubiquitin specific peptidase 31							117.0	94.0	102.0					16																	23116855		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116855G>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.996C>G	16.37:g.23116855G>C	ENSP00000219689:p.His332Gln		Somatic					p.H332Q	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	995	-			332					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.996C>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630092	0.67015	.	.	ENSG00000103404	ENST00000219689	T	0.07688	3.17	4.69	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.13884	0.0336	L	0.35414	1.06	0.80722	D	1	D	0.60575	0.988	P	0.60012	0.867	T	0.07028	-1.0794	10	0.27785	T	0.31	-13.3742	12.1731	0.54169	0.0842:0.0:0.9158:0.0	.	332	Q70CQ4	UBP31_HUMAN	Q	332	ENSP00000219689:H332Q	ENSP00000219689:H332Q	H	-	3	2	USP31	23024356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.266000	0.65525	2.157000	0.67596	0.655000	0.94253	CAC		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	60	6	60	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619569	37619569	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:37619569A>G	ENST00000337995.3	+	5	1891	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	559					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)			GAGAAACCATATCAATGTAAG	0.418																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1675-1677)tAt>tGt		zinc finger protein 420							85.0	82.0	83.0					19																	37619569		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619569A>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.1676A>G	19.37:g.37619569A>G	ENSP00000338770:p.Tyr559Cys		Somatic				ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	p.Y559C	NM_144689.3	NP_653290.2	WXS	Illumina GAIIx	Phase_I	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1891	+			559					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1676A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475659	0.26511	.	.	ENSG00000197050	ENST00000337995	T	0.25414	1.8	4.35	0.945	0.19543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45478	0.1344	M	0.78344	2.41	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.23619	-1.0183	8	.	.	.	.	4.6931	0.12790	0.4503:0.0:0.086:0.4637	.	559	Q8TAQ5	ZN420_HUMAN	C	559	ENSP00000338770:Y559C	.	Y	+	2	0	ZNF420	42311409	0.000000	0.05858	0.040000	0.18447	0.934000	0.57294	-0.302000	0.08221	-0.096000	0.12329	-0.438000	0.05819	TAT		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		4	59	4	59	---	---	---	---
MIR519A2	574500	broad.mit.edu	37	19	54265626	54265626	+	lincRNA	SNP	C	C	T	rs142071806	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54265626C>T	ENST00000384990.1	+	0	29				RNU6-1041P_ENST00000516254.1_RNA|MIR516A2_ENST00000384888.1_RNA	NR_030222.1				microRNA 519a-2																		TACAGGGAAGCGCTTTCTGTT	0.408													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19735	0.0		0.0	False		,,,				2504	0.0					ENST00000384990.1																			0															C		1,3135		0,1,1567	181.0	160.0	166.0			0.5	0.0	19	dbSNP_134	166	0,7164		0,0,3582	no	intergenic				0,1,5149	TT,TC,CC		0.0,0.0319,0.0097			54265626	1,10299	1568	3582	5150			574500							g.chr19:54265626C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54265626C>T			Somatic						NR_030222.1		WXS	Illumina GAIIx	Phase_I					0	29	+									RNA	SNP	ENST00000384990.1	37																																																																																						0.408	MIR519A2-201	KNOWN	basic	miRNA	lincRNA		NR_030222		27	115	27	115	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54721088	54721088	+	Silent	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54721088G>T	ENST00000391750.1	-	14	1906	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	LILRB3_ENST00000245620.9_Silent_p.S591S|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRA6_ENST00000440558.2_Silent_p.S590S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000424807.1_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		TCACATCCTGGGAGGCTTCAG	0.637																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1768-1770)tcC>tcA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							80.0	85.0	83.0					19																	54721088		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721088G>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1770C>A	19.37:g.54721088G>T			Somatic				LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000424807.1_Silent_p.S590S|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000440558.2_Silent_p.S590S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000346401.6_Silent_p.S602S	p.S590S			WXS	Illumina GAIIx	Phase_I	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1906	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		590					C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1770C>A	CCDS33105.1																																																																																				0.637	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		14	45	14	45	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55693512	55693512	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:55693512C>T	ENST00000376350.3	-	19	3092	c.3070G>A	c.(3070-3072)Gtg>Atg	p.V1024M	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	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)		GTGCGACCCACGCCAGCACTA	0.587																																						ENST00000376350.3																			0				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						c.(3070-3072)Gtg>Atg		protein tyrosine phosphatase, receptor type, H							72.0	73.0	73.0					19																	55693512		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693512C>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.3070G>A	19.37:g.55693512C>T	ENSP00000365528:p.Val1024Met		Somatic				PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	p.V1024M	NM_002842.3	NP_002833.3	WXS	Illumina GAIIx	Phase_I	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3092	-		Renal(1328;0.245)	1024			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3070G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593873	0.86953	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.85339	-1.97;-1.97	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.33938	N	0.004405	D	0.94558	0.8247	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96016	0.9005	10	0.87932	D	0	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	846;1024	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	1024;846	ENSP00000365528:V1024M;ENSP00000263434:V846M	ENSP00000263434:V846M	V	-	1	0	PTPRH	60385324	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	4.522000	0.60539	2.431000	0.82371	0.650000	0.86243	GTG		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			17	64	17	64	---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57036932	57036932	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:57036932G>T	ENST00000308031.5	+	5	1629	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		TTTAGAATCAGTTCACAGCTG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				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						c.(1495-1497)aGt>aTt		zinc finger protein 471							56.0	59.0	58.0					19																	57036932		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036932G>T	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.1496G>T	19.37:g.57036932G>T	ENSP00000309161:p.Ser499Ile		Somatic				ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.S499I	NM_020813.2	NP_065864.2	WXS	Illumina GAIIx	Phase_I	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1629	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	499					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1496G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211425	0.22289	.	.	ENSG00000196263	ENST00000308031	T	0.10288	2.89	3.51	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	M	0.73372	2.23	0.09310	N	1	P	0.44946	0.846	B	0.29267	0.1	T	0.24764	-1.0151	9	0.35671	T	0.21	.	8.7518	0.34620	0.2046:0.0:0.7954:0.0	.	499	Q9BX82	ZN471_HUMAN	I	499	ENSP00000309161:S499I	ENSP00000309161:S499I	S	+	2	0	ZNF471	61728744	0.000000	0.05858	0.335000	0.25508	0.949000	0.60115	-0.415000	0.07106	0.681000	0.31386	0.462000	0.41574	AGT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		17	45	17	45	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207020	48207020	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chrX:48207020A>T	ENST00000298396.2	-	7	538	c.486T>A	c.(484-486)caT>caA	p.H162Q	SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GGGTCCAGGCATGTTCCCCCC	0.478																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(484-486)caT>caA		synovial sarcoma, X breakpoint 3							259.0	234.0	242.0					X																	48207020		2203	4297	6500	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207020A>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.486T>A	X.37:g.48207020A>T	ENSP00000298396:p.His162Gln		Somatic				SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	p.H162Q	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	538	-			162					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.486T>A	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.927391	0.34002	.	.	ENSG00000165584	ENST00000298396;ENST00000376895	T;T	0.32023	3.14;1.47	1.86	-0.931	0.10438	SSXRD motif (1);	2.040690	0.02170	N	0.059583	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	P	0.50272	0.933	P	0.53146	0.719	T	0.07908	-1.0748	10	0.46703	T	0.11	.	1.5181	0.02510	0.4783:0.0:0.212:0.3098	.	162	Q99909	SSX3_HUMAN	Q	162;74	ENSP00000298396:H162Q;ENSP00000366092:H74Q	ENSP00000298396:H162Q	H	-	3	2	SSX3	48091964	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.313000	0.08103	-0.316000	0.08690	0.293000	0.19593	CAT		0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		66	112	66	112	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					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						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(5809-5811)attfs		RAN binding protein 2							93.0	111.0	105.0					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	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.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs		Somatic					p.I1937fs	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	539	7	539	---	---	---	---
PROC	5624	broad.mit.edu	37	2	128186333	128186333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128186333delG	ENST00000234071.3	+	9	1284	c.1197delG	c.(1195-1197)gagfs	p.E399fs	PROC_ENST00000453608.2_Frame_Shift_Del_p.E454fs|PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	399	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)	ATGCCTGCGAGGGCGACAGTG	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1360-1362)gagfs		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						58.0	66.0	63.0					2																	128186333		2203	4300	6503	SO:0001589	frameshift_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186333delG	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.1197delG	2.37:g.128186333delG	ENSP00000234071:p.Glu399fs		Somatic				PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	p.E454fs			WXS	Illumina GAIIx	Phase_I	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1370	+	Colorectal(110;0.1)		399					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Frame_Shift_Del	DEL	ENST00000234071.3	37	c.1362delG	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		18	99	18	99	---	---	---	---
