#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
PI4KB	5298	broad.mit.edu	37	1	151265387	151265387	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:151265387G>A	ENST00000368873.1	-	12	2560	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W	PI4KB_ENST00000368875.2_Missense_Mutation_p.R810W|PI4KB_ENST00000368874.4_Missense_Mutation_p.R783W|PI4KB_ENST00000368872.1_Missense_Mutation_p.R783W|PI4KB_ENST00000271657.5_Missense_Mutation_p.R810W|PI4KB_ENST00000529142.1_Missense_Mutation_p.R466W			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	798					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGATAGACCGCATACTGCCA	0.577																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2428-2430)Cgg>Tgg		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							141.0	134.0	136.0					1																	151265387		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265387G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2392C>T	1.37:g.151265387G>A	ENSP00000357867:p.Arg798Trp					PI4KB_uc001exs.3_Missense_Mutation_p.R783W|PI4KB_uc001exu.3_Missense_Mutation_p.R783W|PI4KB_uc010pcw.2_Missense_Mutation_p.R466W|PI4KB_uc001ext.3_Missense_Mutation_p.R798W	p.R810W	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	3067	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		798					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2428C>T		.	.	.	.	.	.	.	.	.	.	G	19.79	3.893823	0.72639	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.54	4.61	0.57282	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	L	0.48642	1.525	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.64144	0.872;0.922;0.784	T	0.01018	-1.1479	10	0.66056	D	0.02	-17.6211	11.0221	0.47724	0.0:0.0:0.6486:0.3514	.	798;783;466	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	W	783;810;810;798;466;783;209	ENSP00000357868:R783W;ENSP00000357869:R810W;ENSP00000271657:R810W;ENSP00000357867:R798W;ENSP00000433149:R466W;ENSP00000357866:R783W;ENSP00000410974:R209W	ENSP00000271657:R810W	R	-	1	2	PI4KB	149532011	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.216000	0.58540	1.514000	0.48869	0.655000	0.94253	CGG		0.577	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
DUSP27	92235	broad.mit.edu	37	1	167097496	167097496	+	Missense_Mutation	SNP	G	G	A	rs373097210		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:167097496G>A	ENST00000361200.2	+	6	3294	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1043H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1043H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1043					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACTTCTTCCGCCGGACCCCA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17980	0.001		0.0	False		,,,				2504	0.0					uc001geb.1																			0		p.R1043S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3127-3129)cGc>cAc		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	30.0	35.0	34.0		3128	3.0	1.0	1		34	0,8600		0,0,4300	no	missense	DUSP27	NM_001080426.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	1043/1159	167097496	2,13004	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097496G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3128G>A	1.37:g.167097496G>A	ENSP00000354483:p.Arg1043His						p.R1043H	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	3144	+			1043					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3128G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404622	0.42613	4.54E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.25	3.01	0.34805	.	0.728597	0.12539	N	0.460071	T	0.02047	0.0064	L	0.57536	1.79	0.25501	N	0.987551	B	0.18610	0.029	B	0.10450	0.005	T	0.36553	-0.9743	10	0.87932	D	0	-4.8272	11.2261	0.48884	0.1697:0.0:0.8303:0.0	.	1043	Q5VZP5	DUS27_HUMAN	H	1043	ENSP00000354483:R1043H;ENSP00000271385:R1043H;ENSP00000404874:R1043H	ENSP00000271385:R1043H	R	+	2	0	DUSP27	165364120	0.997000	0.39634	0.989000	0.46669	0.516000	0.34256	2.891000	0.48617	1.189000	0.43028	0.643000	0.83706	CGC		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
TNN	63923	broad.mit.edu	37	1	175097757	175097757	+	Missense_Mutation	SNP	G	G	A	rs200234361	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:175097757G>A	ENST00000239462.4	+	15	3318	c.3205G>A	c.(3205-3207)Gac>Aac	p.D1069N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1069	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCCTTCGGACTGCAGTCA	0.547																																						uc001gkl.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3205-3207)Gac>Aac		Homo sapiens tenascin N (TNN), mRNA.							91.0	87.0	88.0					1																	175097757		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097757G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3205G>A	1.37:g.175097757G>A	ENSP00000239462:p.Asp1069Asn						p.D1069N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3318	+		Breast(1374;0.000962)	1069			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3205G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907766	0.92107	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.81415	-1.49	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	L	0.58354	1.805	0.58432	D	0.999992	P	0.38223	0.623	B	0.40659	0.336	T	0.81351	-0.0972	10	0.51188	T	0.08	.	15.2509	0.73545	0.0:0.0:1.0:0.0	.	1069	Q9UQP3	TENN_HUMAN	N	1069;892	ENSP00000239462:D1069N	ENSP00000239462:D1069N	D	+	1	0	TNN	173364380	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.067000	0.71193	2.385000	0.81259	0.462000	0.41574	GAC		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
CFHR5	81494	broad.mit.edu	37	1	196964976	196964976	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:196964976C>G	ENST00000256785.4	+	5	846	c.737C>G	c.(736-738)cCt>cGt	p.P246R	CFHR5_ENST00000367414.5_Missense_Mutation_p.P270R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAAACGGGCCTAAGAAAATA	0.333																																						uc001gts.4																			0		p.G245R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(736-738)cCt>cGt		Homo sapiens complement factor H-related 5 (CFHR5), mRNA.							95.0	102.0	100.0					1																	196964976		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964976C>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.737C>G	1.37:g.196964976C>G	ENSP00000256785:p.Pro246Arg						p.P246R	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			4	865	+			246			Sushi 4.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.737C>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803892	0.31869	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.62639	0.01;0.01	3.49	2.56	0.30785	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67239	0.2872	M	0.67700	2.07	0.09310	N	1	P	0.47191	0.891	P	0.54889	0.763	T	0.53878	-0.8376	9	0.25751	T	0.34	.	7.0475	0.25055	0.0:0.8649:0.0:0.1351	.	246	Q9BXR6	FHR5_HUMAN	R	270;246	ENSP00000356384:P270R;ENSP00000256785:P246R	ENSP00000256785:P246R	P	+	2	0	CFHR5	195231599	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.492000	0.35594	0.580000	0.29522	0.544000	0.68410	CCT		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
DDX59	83479	broad.mit.edu	37	1	200635187	200635187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:200635187G>A	ENST00000331314.6	-	2	895	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	DDX59_ENST00000447706.2_Missense_Mutation_p.P228S|DDX59_ENST00000367348.3_Missense_Mutation_p.P228S	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	228						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTTGAATGGGAGTTGGCACC	0.458																																						uc009wzk.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(682-684)Ccc>Tcc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.							150.0	151.0	151.0					1																	200635187		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635187G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.682C>T	1.37:g.200635187G>A	ENSP00000330460:p.Pro228Ser					DDX59_uc010ppl.1_Missense_Mutation_p.P228S	p.P228S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			1	925	-			228					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.682C>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973626	0.92919	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.51574	0.7;0.7;0.7	5.33	5.33	0.75918	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.64859	-0.6308	10	0.19590	T	0.45	-18.0534	19.0796	0.93177	0.0:0.0:1.0:0.0	.	228;228	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	S	228	ENSP00000394367:P228S;ENSP00000356317:P228S;ENSP00000330460:P228S	ENSP00000330460:P228S	P	-	1	0	DDX59	198901810	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.848000	0.99507	2.498000	0.84270	0.650000	0.86243	CCC		0.458	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
PRKCQ	5588	broad.mit.edu	37	10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGCTCTGTCGGCAAATGACAG	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	uc001iji.1																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(2131-2133)gCc>gTc		Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.							204.0	213.0	210.0					10																	6470257		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6470257G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2033C>T	10.37:g.6470257G>A	ENSP00000263125:p.Ala678Val					PRKCQ_uc001ijj.2_Missense_Mutation_p.A678V|PRKCQ_uc009xim.2_Missense_Mutation_p.A615V|PRKCQ_uc009xin.2_Missense_Mutation_p.A642V|PRKCQ_uc010qax.2_Missense_Mutation_p.A553V	p.A711V	NM_006257	NP_006248	Q04759	KPCT_HUMAN			16	2216	-			678					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.2132C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.563|7.563	0.665173|0.665173	0.14710|0.14710	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.239518|.	0.42294|.	D|.	0.000736|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02665|0.02665	-0.54|-0.54	0.20074|0.20074	N|N	0.999935|0.999935	B;B;P;B|.	0.40553|.	0.01;0.041;0.721;0.032|.	B;B;P;B|.	0.45310|.	0.006;0.009;0.476;0.028|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.14252|.	T|.	0.57|.	.|.	15.5307|15.5307	0.75960|0.75960	0.0:0.1384:0.8616:0.0|0.0:0.1384:0.8616:0.0	.|.	553;450;615;678|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|S	678;615;553|451	ENSP00000263125:A678V;ENSP00000380361:A615V;ENSP00000441752:A553V|.	ENSP00000263125:A678V|.	A|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6510263|6510263	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.066000|0.066000	0.16364|0.16364	5.083000|5.083000	0.64456|0.64456	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
SF1	7536	broad.mit.edu	37	11	64537812	64537812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr11:64537812C>T	ENST00000377390.3	-	4	642	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SF1_ENST00000334944.5_Missense_Mutation_p.R102H|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R227H|SF1_ENST00000377394.3_Missense_Mutation_p.R102H|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000433274.2_Missense_Mutation_p.R76H|SF1_ENST00000227503.9_Missense_Mutation_p.R102H	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	102					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R102H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCTTTTTGCGGGTGCGGAA	0.547																																						uc001obb.2																			2	Substitution - Missense(2)	p.R102H(4)	kidney(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(304-306)cGc>cAc		Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.							129.0	127.0	128.0					11																	64537812		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537812C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.305G>A	11.37:g.64537812C>T	ENSP00000366607:p.Arg102His					SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.R76H|SF1_uc001oaz.2_Missense_Mutation_p.R227H|SF1_uc001oba.2_Missense_Mutation_p.R102H|SF1_uc001obd.2_Missense_Mutation_p.R102H|SF1_uc001obc.2_Missense_Mutation_p.R102H|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	p.R102H	NM_004630	NP_001171502	Q15637	SF01_HUMAN			3	757	-			102					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.305G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280256	0.80692	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.57907	0.37;0.4;0.44;0.56;0.39;0.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76575	0.988;0.982;0.973;0.988;0.988	T	0.80246	-0.1462	10	0.87932	D	0	.	17.8686	0.88804	0.0:1.0:0.0:0.0	.	102;102;102;102;227	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	H	227;102;102;102;102;76	ENSP00000366604:R227H;ENSP00000366607:R102H;ENSP00000227503:R102H;ENSP00000366611:R102H;ENSP00000334414:R102H;ENSP00000396793:R76H	ENSP00000227503:R102H	R	-	2	0	SF1	64294388	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.264000	0.78432	2.817000	0.96982	0.563000	0.77884	CGC		0.547	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2776-2778)gaafs		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	p.E926fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN			10	3063_3064	-			926			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.2776_2777delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
KRT7	3855	broad.mit.edu	37	12	52639222	52639222	+	Silent	SNP	C	C	T	rs368567294		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:52639222C>T	ENST00000331817.5	+	7	1194	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	337	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CCGCCATTGCCGAGGCTGAGG	0.662																																						uc001saa.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1009-1011)gcC>gcT		Homo sapiens keratin 7 (KRT7), mRNA.		C		0,4402		0,0,2201	26.0	28.0	27.0		1011	-8.8	0.0	12		27	1,8595		0,1,4297	no	coding-synonymous	KRT7	NM_005556.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		337/470	52639222	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639222C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1011C>T	12.37:g.52639222C>T							p.A337A	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	6	1138	+			337			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1011C>T	CCDS8822.1																																																																																				0.662	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556	
HOXC11	3227	broad.mit.edu	37	12	54367422	54367422	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:54367422A>C	ENST00000546378.1	+	1	513	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	HOXC11_ENST00000243082.4_Missense_Mutation_p.T133P|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	133					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CCCGCACGCAACCCCCGCCGG	0.642			T	NUP98	AML																																	uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(397-399)Acc>Ccc		Homo sapiens homeobox C11 (HOXC11), mRNA.							72.0	94.0	87.0					12																	54367422		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367422A>C		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.397A>C	12.37:g.54367422A>C	ENSP00000446680:p.Thr133Pro						p.T133P	NM_014212	NP_055027	O43248	HXC11_HUMAN			0	513	+			133					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.397A>C	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	A	9.011	0.982542	0.18889	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.48836	0.8;0.8	4.31	2.48	0.30137	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.160447	0.56097	D	0.000030	T	0.19485	0.0468	N	0.02539	-0.55	0.24979	N	0.991619	B	0.02656	0.0	B	0.04013	0.001	T	0.16276	-1.0408	10	0.28530	T	0.3	.	7.9107	0.29789	0.2675:0.0:0.7325:0.0	.	133	O43248	HXC11_HUMAN	P	133	ENSP00000446680:T133P;ENSP00000243082:T133P	ENSP00000243082:T133P	T	+	1	0	HOXC11	52653689	0.202000	0.23423	0.770000	0.31555	0.986000	0.74619	1.137000	0.31479	0.562000	0.29204	-0.253000	0.11424	ACC		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2		
MYO1A	4640	broad.mit.edu	37	12	57431824	57431824	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:57431824C>T	ENST00000442789.2	-	19	2077	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R435Q|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R597Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	597	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAACTGACCTCGCTGCTGATG	0.592																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1789-1791)cGa>cAa		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							96.0	77.0	84.0					12																	57431824		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431824C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1790G>A	12.37:g.57431824C>T	ENSP00000393392:p.Arg597Gln					MYO1A_uc010sqz.2_Missense_Mutation_p.R435Q|MYO1A_uc009zpd.3_Missense_Mutation_p.R597Q	p.R597Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			17	2030	-			597			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1790G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088092	0.55968	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71461	-0.57;-0.57;-0.57	5.13	-1.69	0.08186	Myosin head, motor domain (2);	0.683218	0.13959	N	0.350979	T	0.42223	0.1193	N	0.05124	-0.11	0.22947	N	0.998524	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.41790	T	0.15	.	5.4281	0.16438	0.0:0.3269:0.2269:0.4462	.	597	Q9UBC5	MYO1A_HUMAN	Q	597;597;435	ENSP00000300119:R597Q;ENSP00000393392:R597Q;ENSP00000440514:R435Q	ENSP00000300119:R597Q	R	-	2	0	MYO1A	55718091	0.000000	0.05858	0.901000	0.35422	0.949000	0.60115	-3.396000	0.00485	-0.046000	0.13446	-0.137000	0.14449	CGA		0.592	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
SELPLG	6404	broad.mit.edu	37	12	109017957	109017957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:109017957delC	ENST00000550948.1	-	2	351	c.127delG	c.(127-129)gccfs	p.A43fs	SELPLG_ENST00000228463.6_Frame_Shift_Del_p.A59fs|SELPLG_ENST00000388962.3_Frame_Shift_Del_p.A43fs			Q14242	SELPL_HUMAN	selectin P ligand	43					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TATTCGGTGGCCTGTCTCCGG	0.582																																						uc010sxe.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(175-177)gccfs		Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.							81.0	78.0	79.0					12																	109017957		2203	4300	6503	SO:0001589	frameshift_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017957delC		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.127delG	12.37:g.109017957delC	ENSP00000447752:p.Ala43fs					SELPLG_uc001tni.3_Frame_Shift_Del_p.A43fs|SELPLG_uc021rdm.1_Frame_Shift_Del_p.A43fs|SELPLG_uc001tnh.3_Frame_Shift_Del_p.A43fs	p.A59fs	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN			1	352	-			43					A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	c.175delG	CCDS31895.2																																																																																				0.582	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
FOXG1	2290	broad.mit.edu	37	14	29236962	29236988	+	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	GGGCGAGGGCGGCAAGGACGGGGAGGG	-	rs375378714|rs148157138	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	ENST00000313071.4	+	1	676_702	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg	p.GEGGKDGEG160del	FOXG1_ENST00000382535.3_In_Frame_Del_p.GEGGKDGEG160del|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	160	Gly-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G166G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agaagggggcgggcgagggcggcaaggacggggaggggggcaaggag	0.727																																						uc001wqe.3																			1	Substitution - coding silent(1)	p.G166G(2)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg		Homo sapiens forkhead box G1 (FOXG1), mRNA.																																				SO:0001651	inframe_deletion	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	14.37:g.29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	ENSP00000339004:p.Gly160_Gly168del						p.GEGGKDGEG160del	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	0	676_702	+			160			Gly-rich.		A6NFY2|P55315|Q14488|Q86XT7	In_Frame_Del	DEL	ENST00000313071.4	37	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	CCDS9636.1																																																																																				0.727	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
KRT222	125113	broad.mit.edu	37	17	38812794	38812794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr17:38812794G>A	ENST00000476049.1	-	6	789	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.R250*			Q8N1A0	KT222_HUMAN	keratin 222	250						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGATCAAATCGAAGAGAAACA	0.368																																						uc002hvc.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(748-750)Cga>Tga		Homo sapiens keratin 222 (KRT222), mRNA.							96.0	91.0	93.0					17																	38812794		2203	4300	6503	SO:0001587	stop_gained	125113					intermediate filament	structural molecule activity	g.chr17:38812794G>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.748C>T	17.37:g.38812794G>A	ENSP00000463483:p.Arg250*					KRT222_uc002hvb.2_Nonsense_Mutation_p.R210*	p.R250*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			5	813	-			250					Q7Z368	Nonsense_Mutation	SNP	ENST00000476049.1	37	c.748C>T	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761828	0.89932	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	.	.	.	5.93	4.93	0.64822	.	0.281924	0.29861	U	0.011018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3576	14.1622	0.65454	0.0:0.0:0.7305:0.2695	.	.	.	.	X	210;250	.	ENSP00000377613:R210X	R	-	1	2	KRT222	36066320	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.996000	0.70639	2.818000	0.97014	0.591000	0.81541	CGA		0.368	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
ACPT	93650	broad.mit.edu	37	19	51295399	51295399	+	Missense_Mutation	SNP	G	G	A	rs201115271		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:51295399G>A	ENST00000270593.1	+	5	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	174						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11906	0.0		0.0	False		,,,				2504	0.0					uc002pta.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(520-522)Gag>Aag		Homo sapiens acid phosphatase, testicular (ACPT), mRNA.							17.0	18.0	18.0					19																	51295399		2197	4298	6495	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295399G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.520G>A	19.37:g.51295399G>A	ENSP00000270593:p.Glu174Lys						p.E174K	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	520	+		all_neural(266;0.057)	174					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.520G>A	CCDS12802.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	15.68	2.905402	0.52333	.	.	ENSG00000142513	ENST00000270593	T	0.19938	2.11	4.39	4.39	0.52855	.	0.607857	0.15860	N	0.241053	T	0.18759	0.0450	L	0.52266	1.64	0.80722	D	1	P	0.36535	0.557	B	0.25987	0.065	T	0.07404	-1.0774	10	0.72032	D	0.01	-9.9568	12.8365	0.57775	0.0:0.0:1.0:0.0	.	174	Q9BZG2	PPAT_HUMAN	K	174	ENSP00000270593:E174K	ENSP00000270593:E174K	E	+	1	0	ACPT	55987211	0.770000	0.28543	0.881000	0.34555	0.716000	0.41182	1.387000	0.34430	2.178000	0.69098	0.455000	0.32223	GAG		0.706	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	
ZNF470	388566	broad.mit.edu	37	19	57089037	57089037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:57089037C>T	ENST00000330619.8	+	6	1926	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ZNF470_ENST00000391709.3_Nonsense_Mutation_p.Q414*|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGGACTTATTCAGCATAAGAG	0.413																																						uc002qnl.4																			0		p.I413F(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1240-1242)Cag>Tag		Homo sapiens zinc finger protein 470 (ZNF470), mRNA.							83.0	84.0	84.0					19																	57089037		2203	4300	6503	SO:0001587	stop_gained	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089037C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1240C>T	19.37:g.57089037C>T	ENSP00000333223:p.Gln414*					ZNF470_uc010etn.3_Intron	p.Q414*	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	1916	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	414					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Nonsense_Mutation	SNP	ENST00000330619.8	37	c.1240C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	39	7.451041	0.98292	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	.	.	.	4.26	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	5.0482	0.14494	0.4142:0.4794:0.0:0.1064	.	.	.	.	X	414	.	ENSP00000333223:Q414X	Q	+	1	0	ZNF470	61780849	0.000000	0.05858	0.994000	0.49952	0.506000	0.33950	-1.261000	0.02855	2.212000	0.71576	0.650000	0.86243	CAG		0.413	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZRANB3	84083	broad.mit.edu	37	2	135965224	135965224	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:135965224G>T	ENST00000264159.6	-	19	2905	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.S928Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.S928Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	930					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGAATCCCAAGAGTTCGCTTT	0.428																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2788-2790)tCt>tAt		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							209.0	194.0	199.0					2																	135965224		1922	4139	6061	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965224G>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2789C>A	2.37:g.135965224G>T	ENSP00000264159:p.Ser930Tyr					ZRANB3_uc002tuk.3_Missense_Mutation_p.S473Y|ZRANB3_uc002tul.3_Missense_Mutation_p.S928Y	p.S930Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	18	2906	-			930					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2789C>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964753	0.34659	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90900	-2.75;-2.75;-2.73	5.93	3.99	0.46301	.	0.460019	0.21786	N	0.069135	T	0.77974	0.4211	N	0.01874	-0.695	0.09310	N	0.999999	B;B	0.24132	0.059;0.098	B;B	0.15484	0.006;0.013	T	0.71686	-0.4518	10	0.87932	D	0	-8.9385	15.7855	0.78300	0.0:0.2573:0.7427:0.0	.	930;928	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	393;393;928;930;928	ENSP00000383979:S928Y;ENSP00000264159:S930Y;ENSP00000441320:S928Y	ENSP00000264159:S930Y	S	-	2	0	ZRANB3	135681694	0.113000	0.22115	0.728000	0.30774	0.662000	0.39071	2.892000	0.48625	1.461000	0.47929	0.655000	0.94253	TCT		0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
PRKRA	8575	broad.mit.edu	37	2	179296970	179296970	+	Missense_Mutation	SNP	C	C	T	rs148050153	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:179296970C>T	ENST00000325748.4	-	8	996	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000450044.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000420672.1_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.A255T|PRKRA_ENST00000487082.1_Missense_Mutation_p.A241T|PRKRA_ENST00000438687.3_Missense_Mutation_p.A153T|AC009948.5_ENST00000454488.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	266	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCCATTGGCGCTCAGTTCA	0.418																																					Melanoma(200;68 3001 23825 48764)	uc002umf.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(796-798)Gcc>Acc		Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	152.0	122.0	132.0		763,721,796	4.2	1.0	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PRKRA	NM_001139517.1,NM_001139518.1,NM_003690.4	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	255/303,241/289,266/314	179296970	1,13005	2203	4300	6503	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179296970C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.796G>A	2.37:g.179296970C>T	ENSP00000318176:p.Ala266Thr					MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.A98T|PRKRA_uc002umd.3_Missense_Mutation_p.A241T|PRKRA_uc002ume.3_Missense_Mutation_p.A255T|PRKRA_uc002umg.3_Missense_Mutation_p.A153T|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	p.A266T	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		7	997	-			266			DRBM 3.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.796G>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378957	0.42207	0.0	1.16E-4	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.12	4.23	0.50019	Double-stranded RNA-binding (2);	0.152498	0.42053	D	0.000771	T	0.59252	0.2180	N	0.04508	-0.205	0.33655	D	0.608922	B;B	0.28783	0.222;0.072	B;B	0.15870	0.014;0.01	T	0.64373	-0.6423	10	0.28530	T	0.3	.	7.1947	0.25845	0.1712:0.7404:0.0:0.0883	.	266;255	O75569;O75569-2	PRKRA_HUMAN;.	T	266;153;241;255	ENSP00000318176:A266T;ENSP00000398980:A153T;ENSP00000430604:A241T;ENSP00000393883:A255T	ENSP00000318176:A266T	A	-	1	0	PRKRA	179005216	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.163000	0.50763	2.402000	0.81655	0.467000	0.42956	GCC		0.418	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
UMODL1	89766	broad.mit.edu	37	21	43519223	43519223	+	Silent	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:43519223G>A	ENST00000408910.2	+	7	1119	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	UMODL1_ENST00000400427.1_Silent_p.L301L|UMODL1_ENST00000408989.2_Silent_p.L373L|UMODL1_ENST00000400424.2_Silent_p.L301L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	373	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGTGCTGTACAGGGTGA	0.612																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1117-1119)ctG>ctA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							44.0	52.0	49.0					21																	43519223		2122	4232	6354	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519223G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1119G>A	21.37:g.43519223G>A						UMODL1_uc002zad.1_Silent_p.L301L|UMODL1_uc002zae.1_Silent_p.L301L|UMODL1_uc002zaf.1_Silent_p.L373L|UMODL1_uc010gow.1_Silent_p.L165L|UMODL1_uc002zai.1_Silent_p.L24L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.L24L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.L118L	p.L373L	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			6	1119	+			373			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1119G>A	CCDS42936.1																																																																																				0.612	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
ITGB2	3689	broad.mit.edu	37	21	46330269	46330269	+	Missense_Mutation	SNP	G	G	A	rs148038936		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:46330269G>A	ENST00000397850.2	-	4	529	c.77C>T	c.(76-78)aCg>aTg	p.T26M	ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397857.1_Missense_Mutation_p.T26M|ITGB2_ENST00000302347.5_Missense_Mutation_p.T26M|ITGB2_ENST00000397854.3_Missense_Mutation_p.T26M|ITGB2_ENST00000397852.1_Missense_Mutation_p.T26M|ITGB2_ENST00000355153.4_Missense_Mutation_p.T26M|ITGB2_ENST00000397846.3_Missense_Mutation_p.T26M			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	26					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTTGAACTTCGTGCACTCCTG	0.657																																						uc002zgd.2																			0		p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(76-78)aCg>aTg		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						54.0	50.0	51.0					21																	46330269		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46330269G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.77C>T	21.37:g.46330269G>A	ENSP00000380948:p.Thr26Met					ITGB2_uc002zgf.3_Missense_Mutation_p.T26M|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.T26M|ITGB2_uc002zgg.2_Missense_Mutation_p.T26M	p.T26M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	1	121	-			26					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.77C>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604548	0.28623	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000517819;ENST00000397846;ENST00000521995	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.52	1.59	0.23543	.	.	.	.	.	T	0.75620	0.3874	N	0.08118	0	0.29504	N	0.854672	D;P	0.64830	0.994;0.61	P;P	0.51999	0.687;0.505	T	0.69094	-0.5236	9	0.48119	T	0.1	.	6.482	0.22067	0.0893:0.0:0.5925:0.3182	.	26;26	A8MYE6;P05107	.;ITB2_HUMAN	M	26;26;26;26;26;26;26;17;26;26;26;26;26;26	ENSP00000380950:T26M;ENSP00000380955:T26M;ENSP00000380952:T26M;ENSP00000347279:T26M;ENSP00000380948:T26M;ENSP00000303242:T26M;ENSP00000317697:T17M;ENSP00000428503:T26M;ENSP00000428979:T26M;ENSP00000428413:T26M;ENSP00000428870:T26M;ENSP00000380944:T26M;ENSP00000429683:T26M	ENSP00000303242:T26M	T	-	2	0	ITGB2	45154697	1.000000	0.71417	0.038000	0.18304	0.082000	0.17680	1.401000	0.34589	0.017000	0.15025	0.563000	0.77884	ACG		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
SLC35E4	339665	broad.mit.edu	37	22	31042730	31042730	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr22:31042730G>T	ENST00000343605.4	+	2	1564	c.765G>T	c.(763-765)tgG>tgT	p.W255C	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	255	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCGCCTCTGGGCCTGCATCC	0.677																																						uc003ais.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(763-765)tgG>tgT		Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.							52.0	38.0	43.0					22																	31042730		2203	4300	6503	SO:0001583	missense	339665					integral to membrane		g.chr22:31042730G>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.765G>T	22.37:g.31042730G>T	ENSP00000339626:p.Trp255Cys					SLC35E4_uc003ait.3_Intron	p.W255C	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			1	1410	+			255			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.765G>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105593	0.77096	.	.	ENSG00000100036	ENST00000343605	T	0.62788	0.0	5.02	5.02	0.67125	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76454	-0.2953	10	0.40728	T	0.16	-8.7361	17.4897	0.87700	0.0:0.0:1.0:0.0	.	255	Q6ICL7	S35E4_HUMAN	C	255	ENSP00000339626:W255C	ENSP00000339626:W255C	W	+	3	0	SLC35E4	29372730	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.317000	0.96327	2.515000	0.84797	0.561000	0.74099	TGG		0.677	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973	
RAD54L2	23132	broad.mit.edu	37	3	51690054	51690054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:51690054C>T	ENST00000409535.2	+	19	3219	c.3094C>T	c.(3094-3096)Ccc>Tcc	p.P1032S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P726S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1032						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCCCCATCCCCATGATGCC	0.522																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3094-3096)Ccc>Tcc		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							152.0	138.0	143.0					3																	51690054		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51690054C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3094C>T	3.37:g.51690054C>T	ENSP00000386520:p.Pro1032Ser					RAD54L2_uc003dbh.3_Missense_Mutation_p.P621S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P726S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P358S	p.P1032S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	18	3219	+			1032					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.3094C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.530830|4.530830	0.85706|0.85706	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.94613	.|-3.42;-3.47	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.051167|0.051167	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96306|0.96306	0.8795|0.8795	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.972;0.991	D|D	0.96747|0.96747	0.9551|0.9551	6|10	.|0.72032	.|D	.|0.01	-16.714|-16.714	16.2385|16.2385	0.82394|0.82394	0.0:0.8672:0.1328:0.0|0.0:0.8672:0.1328:0.0	.|.	.|1032;621	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	L|S	860|1032;726	.|ENSP00000386520:P1032S;ENSP00000296477:P726S	.|ENSP00000296477:P726S	P|P	+|+	2|1	0|0	RAD54L2|RAD54L2	51665094|51665094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.764000|5.764000	0.68826|0.68826	1.507000|1.507000	0.48752|0.48752	0.563000|0.563000	0.77884|0.77884	CCC|CCC		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106	
RAP2B	5912	broad.mit.edu	37	3	152880771	152880771	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:152880771C>T	ENST00000323534.2	+	1	743	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	97					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAAGCCCATGCGGGACCAGAT	0.617																																						uc003ezr.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(289-291)Cgg>Tgg		Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.							100.0	88.0	92.0					3																	152880771		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880771C>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.289C>T	3.37:g.152880771C>T	ENSP00000319096:p.Arg97Trp						p.R97W	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		0	743	+			97					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.289C>T	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116322	0.56505	.	.	ENSG00000181467	ENST00000323534	T	0.80214	-1.35	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000002	T	0.74496	0.3724	L	0.49126	1.545	0.58432	D	0.999997	B	0.30281	0.275	B	0.28553	0.091	T	0.76471	-0.2947	10	0.87932	D	0	.	11.2791	0.49184	0.1825:0.8175:0.0:0.0	.	97	P61225	RAP2B_HUMAN	W	97	ENSP00000319096:R97W	ENSP00000319096:R97W	R	+	1	2	RAP2B	154363461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.066000	0.30604	2.324000	0.78689	0.563000	0.77884	CGG		0.617	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886	
NLGN1	22871	broad.mit.edu	37	3	173998531	173998531	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:173998531G>C	ENST00000457714.1	+	7	2339	c.1910G>C	c.(1909-1911)aGa>aCa	p.R637T	NLGN1_ENST00000361589.4_Missense_Mutation_p.R637T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R677T|NLGN1_ENST00000545397.1_Missense_Mutation_p.R637T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	654					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCACTTTCAGACCTACGAGA	0.433																																						uc021xhm.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2029-2031)aGa>aCa		Homo sapiens neuroligin 1 (NLGN1), mRNA.							122.0	121.0	121.0					3																	173998531		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998531G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1910G>C	3.37:g.173998531G>C	ENSP00000392500:p.Arg637Thr					NLGN1_uc003fio.1_Missense_Mutation_p.R637T|NLGN1_uc003fip.1_Missense_Mutation_p.R637T	p.R677T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2350	+	Ovarian(172;0.0025)		654					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2030G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893455	0.17613	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.17	5.59	5.59	0.84812	.	0.049426	0.85682	D	0.000000	T	0.42743	0.1216	N	0.12182	0.205	0.47374	D	0.999402	B	0.06786	0.001	B	0.09377	0.004	T	0.29971	-0.9994	10	0.21014	T	0.42	.	13.2118	0.59830	0.0729:0.0:0.9271:0.0	.	637	Q8N2Q7-2	.	T	637;637;637;677	ENSP00000392500:R637T;ENSP00000354541:R637T;ENSP00000441108:R637T;ENSP00000385750:R677T	ENSP00000354541:R637T	R	+	2	0	NLGN1	175481225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.090000	0.71397	2.793000	0.96121	0.655000	0.94253	AGA		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
ALB	213	broad.mit.edu	37	4	74274453	74274453	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr4:74274453G>A	ENST00000295897.4	+	4	502	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R138Q|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCTCCCCCGATTGGTGAGA	0.398																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(412-414)cGa>cAa		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						76.0	74.0	74.0					4																	74274453		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274453G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.413G>A	4.37:g.74274453G>A	ENSP00000295897:p.Arg138Gln					ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.R28Q	p.R138Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	486	+	Breast(15;0.00102)		138		R -> G (in Yanomama-2).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.413G>A	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.537985	0.27475	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.72505	-0.66;-0.66;-0.66	6.13	-0.554	0.11811	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.083900	0.07111	N	0.842224	T	0.46964	0.1420	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	10	0.28530	T	0.3	-1.7316	6.5204	0.22272	0.4107:0.4316:0.0924:0.0653	.	138;138	A6NBZ8;P02768	.;ALBU_HUMAN	Q	140;138;138;138;147	ENSP00000392541:R140Q;ENSP00000295897:R138Q;ENSP00000422784:R138Q	ENSP00000295897:R138Q	R	+	2	0	ALB	74493317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.450000	0.06803	-0.047000	0.13423	-0.140000	0.14226	CGA		0.398	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	
PCDHB5	26167	broad.mit.edu	37	5	140516934	140516934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr5:140516934G>A	ENST00000231134.5	+	1	2135	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGGCTGGTGGTGCTGGT	0.706																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1918-1920)Gtg>Atg		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							23.0	27.0	26.0					5																	140516934		2103	4097	6200	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516934G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1918G>A	5.37:g.140516934G>A	ENSP00000231134:p.Val640Met						p.V640M	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2135	+			640			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1918G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569837	0.45798	.	.	ENSG00000113209	ENST00000231134	T	0.53857	0.6	4.71	-2.79	0.05841	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66056	0.2751	M	0.85462	2.755	0.20563	N	0.999883	P	0.41498	0.752	P	0.48921	0.595	T	0.68800	-0.5313	9	0.87932	D	0	.	16.5697	0.84608	0.0917:0.1823:0.726:0.0	.	640	Q9Y5E4	PCDB5_HUMAN	M	640	ENSP00000231134:V640M	ENSP00000231134:V640M	V	+	1	0	PCDHB5	140497118	0.000000	0.05858	0.983000	0.44433	0.760000	0.43138	-4.989000	0.00162	-0.398000	0.07679	-0.690000	0.03725	GTG		0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
NFIB	4781	broad.mit.edu	37	9	14150145	14150145	+	Splice_Site	SNP	T	T	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:14150145T>C	ENST00000380959.3	-	5	1278	c.805A>G	c.(805-807)Agc>Ggc	p.S269G	NFIB_ENST00000380924.1_Splice_Site_p.S17G|NFIB_ENST00000380934.4_Splice_Site_p.S295G|NFIB_ENST00000397579.2_Splice_Site_p.S269G|NFIB_ENST00000380953.1_Splice_Site_p.S269G|NFIB_ENST00000543693.1_Splice_Site_p.S17G|NFIB_ENST00000397575.3_Splice_Site_p.S269G|NFIB_ENST00000397581.2_Splice_Site_p.S269G	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	269					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTTCAGTACCTGCTTGGTGGA	0.458			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e5+1		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							261.0	267.0	265.0					9																	14150145		2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14150145T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.806+1A>G	9.37:g.14150145T>C						NFIB_uc003zld.3_Splice_Site_p.S17_splice|NFIB_uc003zlf.3_Splice_Site_p.S269_splice|NFIB_uc003zle.3_Splice_Site_p.S269_splice|NFIB_uc022bdp.1_Splice_Site_p.S295_splice|NFIB_uc011lmo.2_Splice_Site_p.S269_splice	p.S269_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	5	1341	-			269					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.806_splice	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394411	0.83011	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.35854	1.095	0.53688	D	0.99997	D;P;P;P	0.53885	0.963;0.596;0.508;0.877	D;B;P;P	0.67231	0.95;0.363;0.786;0.682	T	0.66783	-0.5836	10	0.87932	D	0	.	15.4719	0.75446	0.0:0.0:0.0:1.0	.	269;269;269;17	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	G	295;269;269;269;269;269;17;17	ENSP00000370321:S295G;ENSP00000370346:S269G;ENSP00000370340:S269G;ENSP00000380705:S269G;ENSP00000380711:S269G;ENSP00000380709:S269G;ENSP00000442888:S17G;ENSP00000370311:S17G	ENSP00000370311:S17G	S	-	1	0	NFIB	14140145	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.898000	0.75676	2.099000	0.63709	0.533000	0.62120	AGC		0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Missense_Mutation
SPATA31D1	389763	broad.mit.edu	37	9	84609194	84609194	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:84609194A>G	ENST00000344803.2	+	4	3856	c.3809A>G	c.(3808-3810)cAg>cGg	p.Q1270R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1270					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCACAGAAGCAGGAGCCCAGG	0.537																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(3808-3810)cAg>cGg		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							89.0	88.0	88.0					9																	84609194		2000	4173	6173	SO:0001583	missense	389763					integral to membrane		g.chr9:84609194A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3809A>G	9.37:g.84609194A>G	ENSP00000341988:p.Gln1270Arg						p.Q1270R	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	3856	+			1270						Missense_Mutation	SNP	ENST00000344803.2	37	c.3809A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482343	0.44147	.	.	ENSG00000214929	ENST00000344803	T	0.08896	3.04	3.26	3.26	0.37387	.	.	.	.	.	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.59643	0.861	T	0.32188	-0.9916	9	0.21014	T	0.42	-9.9373	8.2441	0.31677	1.0:0.0:0.0:0.0	.	1270	Q6ZQQ2	F75D1_HUMAN	R	1270	ENSP00000341988:Q1270R	ENSP00000341988:Q1270R	Q	+	2	0	FAM75D1	83799014	0.029000	0.19370	0.012000	0.15200	0.003000	0.03518	1.372000	0.34261	1.729000	0.51567	0.533000	0.62120	CAG		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
TNC	3371	broad.mit.edu	37	9	117844148	117844148	+	Silent	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:117844148C>T	ENST00000350763.4	-	6	2718	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_ENST00000423613.2_Silent_p.R769R|TNC_ENST00000341037.4_Silent_p.R769R|TNC_ENST00000535648.1_Silent_p.R769R|TNC_ENST00000537320.1_Silent_p.R769R|TNC_ENST00000345230.3_Silent_p.R769R|TNC_ENST00000340094.3_Silent_p.R769R|TNC_ENST00000346706.3_Silent_p.R769R|TNC_ENST00000542877.1_Silent_p.R769R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	769	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCAGTTTGCCGGTAAGAGG	0.522																																						uc004bjj.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2305-2307)cgG>cgA		Homo sapiens tenascin C (TNC), mRNA.							107.0	105.0	106.0					9																	117844148		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117844148C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2307G>A	9.37:g.117844148C>T						TNC_uc010mvf.3_Silent_p.R769R|TNC_uc022bmj.1_Silent_p.R769R	p.R769R	NM_002160	NP_002151	P24821	TENA_HUMAN			5	2719	-			769			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.2307G>A	CCDS6811.1																																																																																				0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
