#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATP13A4	84239	broad.mit.edu	37	3	193183888	193183888	+	Silent	SNP	T	T	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:193183888T>G	ENST00000342695.4	-	11	1520	c.1198A>C	c.(1198-1200)Agg>Cgg	p.R400R	ATP13A4_ENST00000295548.3_Silent_p.R400R|ATP13A4_ENST00000392443.3_Silent_p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	400						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGAGGAACCTGATGGCATCC	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1198-1200)Agg>Cgg		ATPase type 13A4							255.0	234.0	241.0					3																	193183888		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183888T>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1198A>C	3.37:g.193183888T>G						ATP13A4_ENST00000392443.3_Silent_p.R400R|ATP13A4_ENST00000295548.3_Silent_p.R400R	p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	11	1520	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		400					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.1198A>C	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		32	119	0	0	0	1	0	32	119				
ABCA7	10347	broad.mit.edu	37	19	1045143	1045143	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr19:1045143C>T	ENST00000263094.6	+	12	1589	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	453					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGCACCCAACCCCAGAC	0.627																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1357-1359)cCa>cTa		ATP-binding cassette, sub-family A (ABC1), member 7							53.0	55.0	54.0					19																	1045143		2203	4299	6502	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045143C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1358C>T	19.37:g.1045143C>T	ENSP00000263094:p.Pro453Leu					ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L	p.P453L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1589	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	453					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1358C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016380	0.35606	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96885	-4.16;-4.16	3.61	2.54	0.30619	.	.	.	.	.	D	0.90648	0.7067	N	0.14661	0.345	0.09310	N	1	B;B	0.26809	0.16;0.041	B;B	0.21917	0.037;0.017	D	0.84538	0.0637	9	0.87932	D	0	.	9.529	0.39182	0.0:0.783:0.217:0.0	.	315;453	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	453	ENSP00000263094:P453L;ENSP00000414062:P453L	ENSP00000263094:P453L	P	+	2	0	ABCA7	996143	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.810000	0.38932	0.775000	0.33450	0.462000	0.41574	CCA		0.627	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	66	0	0	0	1	0	23	66				
SYT13	57586	broad.mit.edu	37	11	45265636	45265636	+	Silent	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:45265636C>T	ENST00000020926.3	-	6	1359	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	416					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TGGCAATCTGCCGGCGAGGGT	0.632																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1246-1248)cgG>cgA		synaptotagmin XIII							69.0	76.0	74.0					11																	45265636		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45265636C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1248G>A	11.37:g.45265636C>T							p.R416R	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1359	-			416					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.1248G>A	CCDS31470.1																																																																																				0.632	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		3	61	0	0	0	1	0	3	61				
PLXNC1	10154	broad.mit.edu	37	12	94603368	94603368	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:94603368G>T	ENST00000258526.4	+	5	1691	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	481					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTTTAGGTGCACTTTTCAA	0.393																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1441-1443)tGc>tTc		plexin C1							182.0	187.0	186.0					12																	94603368		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603368G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1442G>T	12.37:g.94603368G>T	ENSP00000258526:p.Cys481Phe						p.C481F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			5	1691	+			481					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1442G>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315401	0.60524	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	D;D	0.91464	-2.85;-2.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.92833	3.35	0.80722	D	1	P	0.51449	0.945	P	0.50490	0.642	D	0.95536	0.8608	10	0.87932	D	0	.	15.5041	0.75725	0.0:0.0:1.0:0.0	.	481	O60486	PLXC1_HUMAN	F	481;97	ENSP00000258526:C481F;ENSP00000447843:C97F	ENSP00000258526:C481F	C	+	2	0	PLXNC1	93127499	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	4.834000	0.62774	2.728000	0.93425	0.655000	0.94253	TGC		0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	142	1	0	0.000602214	1	0.000646279	4	142				
ESR2	2100	broad.mit.edu	37	14	64701762	64701762	+	Silent	SNP	G	G	A	rs144392940	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr14:64701762G>A	ENST00000341099.4	-	8	1749	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	ESR2_ENST00000557772.1_Silent_p.S444S|ESR2_ENST00000267525.6_Silent_p.S353S|ESR2_ENST00000553796.1_Silent_p.S444S|ESR2_ENST00000353772.3_Silent_p.S444S|ESR2_ENST00000542956.1_Silent_p.S444S|ESR2_ENST00000357782.2_Silent_p.S444S|ESR2_ENST00000358599.5_Silent_p.S444S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.S444S|ESR2_ENST00000555278.1_Silent_p.S444S	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	444	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGGAGATGCCGCTCTTGGCAA	0.612																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1330-1332)agC>agT		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	G	,,,,	0,4406		0,0,2203	116.0	88.0	98.0		1332,1332,1332,1332,1332	-8.2	0.5	14	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	444/496,444/496,444/482,444/473,444/531	64701762	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64701762G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1332C>T	14.37:g.64701762G>A						ESR2_ENST00000353772.3_Silent_p.S444S|ESR2_ENST00000341099.4_Silent_p.S444S|ESR2_ENST00000555278.1_Silent_p.S444S|ESR2_ENST00000267525.6_Silent_p.S353S|ESR2_ENST00000554572.1_Silent_p.S444S|ESR2_ENST00000553796.1_Silent_p.S444S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Silent_p.S444S|ESR2_ENST00000358599.5_Silent_p.S444S|ESR2_ENST00000357782.2_Silent_p.S444S	p.S444S	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	7	1331	-			444			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.1332C>T	CCDS9762.1																																																																																				0.612	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			5	54	0	0	0	1	0	5	54				
ZNF99	7652	broad.mit.edu	37	19	22940877	22940877	+	Missense_Mutation	SNP	G	G	T	rs74455660		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr19:22940877G>T	ENST00000596209.1	-	4	1924	c.1834C>A	c.(1834-1836)Cag>Aag	p.Q612K	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q521K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q521K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTGATGTTTTCTA	0.378																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.Q521K(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1561-1563)Cag>Aag		zinc finger protein 99		G	LYS/GLN	0,3932		0,0,1966	35.0	40.0	38.0		1561	-2.3	0.0	19	dbSNP_131	38	1,8385		0,1,4192	no	missense	ZNF99	NM_001080409.2	53	0,1,6158	TT,TG,GG		0.0119,0.0,0.0081	benign	521/912	22940877	1,12317	1966	4193	6159	SO:0001583	missense	7652							g.chr19:22940877G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1834C>A	19.37:g.22940877G>T	ENSP00000472969:p.Gln612Lys					ZNF99_ENST00000596209.1_Missense_Mutation_p.Q612K	p.Q521K							5	1560	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1561C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.470556	0.01044	0.0	1.19E-4	ENSG00000213973	ENST00000397104	T	0.24151	1.87	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.25957	0.775	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17137	-1.0379	9	0.20519	T	0.43	.	2.1045	0.03688	0.2443:0.128:0.456:0.1717	.	521	A8MXY4	ZNF99_HUMAN	K	521	ENSP00000380293:Q521K	ENSP00000380293:Q521K	Q	-	1	0	ZNF99	22732717	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.998000	0.00317	-4.672000	0.00037	-3.580000	0.00029	CAG		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	37	1	0	0.00909568	1	0.00952881	3	37				
FAM89A	375061	broad.mit.edu	37	1	231155679	231155679	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:231155679C>T	ENST00000366654.4	-	2	519	c.485G>A	c.(484-486)gGc>gAc	p.G162D	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	162										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCGAGGAGGGCCTCGGTCCCT	0.577																																						ENST00000366654.4																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(484-486)gGc>gAc		family with sequence similarity 89, member A							80.0	78.0	79.0					1																	231155679		2203	4300	6503	SO:0001583	missense	375061							g.chr1:231155679C>T	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.485G>A	1.37:g.231155679C>T	ENSP00000355614:p.Gly162Asp					FAM89A_ENST00000494111.1_5'UTR	p.G162D	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN			2	519	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	162						Missense_Mutation	SNP	ENST00000366654.4	37	c.485G>A	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566721	0.86439	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.6	3.71	0.42584	.	0.569513	0.16504	N	0.211516	T	0.35682	0.0940	L	0.47716	1.5	0.09310	N	0.999999	B	0.15141	0.012	B	0.16722	0.016	T	0.26292	-1.0107	9	0.07990	T	0.79	-6.7445	9.1537	0.36978	0.0:0.7216:0.0:0.2784	.	162	Q96GI7	FA89A_HUMAN	D	162	.	ENSP00000355614:G162D	G	-	2	0	FAM89A	229222302	0.010000	0.17322	0.007000	0.13788	0.977000	0.68977	1.230000	0.32612	1.509000	0.48786	0.453000	0.30009	GGC		0.577	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		13	16	0	0	0	1	0	13	16				
FAM208B	54906	broad.mit.edu	37	10	5781751	5781751	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr10:5781751C>G	ENST00000328090.5	+	13	2243	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	540																	GTTAGCCGATCTAGCATTAAG	0.418																																						ENST00000328090.5																			0											c.(1618-1620)Cta>Gta		family with sequence similarity 208, member B							121.0	112.0	115.0					10																	5781751		1908	4138	6046	SO:0001583	missense	54906							g.chr10:5781751C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1618C>G	10.37:g.5781751C>G	ENSP00000328426:p.Leu540Val					RP11-336A10.2_ENST00000411512.2_RNA	p.L540V	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2243	+			540					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1618C>G	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706640|2.706640	0.48412|0.48412	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000328090|ENST00000380270	D|.	0.96685|.	-4.09|.	5.59|5.59	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.48767|.	D|.	0.000164|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.68952|0.68952	2.095|2.095	0.26220|0.26220	N|N	0.979178|0.979178	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.44726|0.44726	-0.9309|-0.9309	10|5	0.66056|.	D|.	0.02|.	.|.	9.9537|9.9537	0.41653|0.41653	0.0:0.8422:0.0:0.1578|0.0:0.8422:0.0:0.1578	.|.	540|.	Q5VWN6|.	F208B_HUMAN|.	V|C	540|238	ENSP00000328426:L540V|.	ENSP00000328426:L540V|.	L|S	+|+	1|2	2|0	C10orf18|C10orf18	5821757|5821757	0.787000|0.787000	0.28750|0.28750	0.321000|0.321000	0.25320|0.25320	0.397000|0.397000	0.30659|0.30659	1.329000|1.329000	0.33770|0.33770	0.723000|0.723000	0.32274|0.32274	0.491000|0.491000	0.48974|0.48974	CTA|TCT		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		29	77	0	0	0	1	0	29	77				
AADACL4	343066	broad.mit.edu	37	1	12721809	12721809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:12721809C>G	ENST00000376221.1	+	3	393	c.393C>G	c.(391-393)taC>taG	p.Y131*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	131						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGATTGTTACCATGGCCTGT	0.527																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(391-393)taC>taG		arylacetamide deacetylase-like 4							256.0	241.0	246.0					1																	12721809		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12721809C>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.393C>G	1.37:g.12721809C>G	ENSP00000365395:p.Tyr131*						p.Y131*	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	393	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	131						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.393C>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635871	0.47049	.	.	ENSG00000204518	ENST00000376221	.	.	.	3.86	2.94	0.34122	.	0.406531	0.25117	N	0.033014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0106	11.4002	0.49866	0.0:0.8166:0.1834:0.0	.	.	.	.	X	131	.	ENSP00000365395:Y131X	Y	+	3	2	AADACL4	12644396	0.008000	0.16893	0.088000	0.20740	0.041000	0.13682	0.008000	0.13197	1.193000	0.43086	0.561000	0.74099	TAC		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		11	86	0	0	0	1	0	11	86				
IGHV3-23	28442	broad.mit.edu	37	14	106725617	106725617	+	RNA	SNP	A	A	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr14:106725617A>G	ENST00000390609.2	-	0	116									immunoglobulin heavy variable 3-23																		ACCTTTTAAAATAGCCACAAG	0.428																																						ENST00000390609.2																			0																				115.0	134.0	128.0					14																	106725617		1889	4106	5995			0							g.chr14:106725617A>G	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725617A>G														0	116	-									RNA	SNP	ENST00000390609.2	37																																																																																						0.428	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		25	119	0	0	0	1	0	25	119				
ANPEP	290	broad.mit.edu	37	15	90349645	90349645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr15:90349645G>A	ENST00000300060.6	-	2	483	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	57	Cytosolic Ser/Thr-rich junction.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGCGGGGTTGGTGGTGGCTGA	0.607																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(169-171)aCc>aTc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						107.0	110.0	109.0					15																	90349645		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349645G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.170C>T	15.37:g.90349645G>A	ENSP00000300060:p.Thr57Ile						p.T57I	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	483	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		57			Cytosolic Ser/Thr-rich junction.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.170C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	7.000	0.554742	0.13436	.	.	ENSG00000166825	ENST00000300060	T	0.01323	5.01	4.2	3.23	0.37069	.	0.604741	0.17404	N	0.175422	T	0.01627	0.0052	L	0.36672	1.1	0.09310	N	1	B	0.26635	0.155	B	0.21151	0.033	T	0.45041	-0.9288	10	0.39692	T	0.17	.	11.7493	0.51839	0.0:0.1782:0.8218:0.0	.	57	P15144	AMPN_HUMAN	I	57	ENSP00000300060:T57I	ENSP00000300060:T57I	T	-	2	0	ANPEP	88150649	0.023000	0.18921	0.021000	0.16686	0.021000	0.10359	2.157000	0.42320	1.882000	0.54519	0.467000	0.42956	ACC		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	102	0	0	0	1	0	5	102				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	80	0	0	0	1	0	4	80				
SNTG1	54212	broad.mit.edu	37	8	51617164	51617164	+	Missense_Mutation	SNP	G	G	A	rs529933112		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:51617164G>A	ENST00000522124.1	+	16	1704	c.1043G>A	c.(1042-1044)aGt>aAt	p.S348N	SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	348	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CACCAGGACAGTGACCTGCTG	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0					ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1042-1044)aGt>aAt		syntrophin, gamma 1							134.0	112.0	120.0					8																	51617164		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617164G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1043G>A	8.37:g.51617164G>A	ENSP00000429842:p.Ser348Asn					SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N	p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			16	1704	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	348			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1043G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063022	0.76187	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.33438	1.41;1.41;2.19;2.19	5.19	5.19	0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.037292	0.85682	D	0.000000	T	0.35770	0.0943	M	0.63843	1.955	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.12785	-1.0534	10	0.48119	T	0.1	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	348;348	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	N	348	ENSP00000429276:S348N;ENSP00000429842:S348N;ENSP00000431123:S348N;ENSP00000276467:S348N	ENSP00000276467:S348N	S	+	2	0	SNTG1	51779717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.745000	0.62125	2.577000	0.86979	0.643000	0.83706	AGT		0.557	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	76	0	0	0	1	0	4	76				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	63	0	0	0	1	0	4	63				
CIDEC	63924	broad.mit.edu	37	3	9911609	9911609	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:9911609G>A	ENST00000336832.2	-	5	650	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	171					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TCATAGGAAAGGGAGTATGTA	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(511-513)Ctt>Ttt		cell death-inducing DFFA-like effector c							93.0	84.0	87.0					3																	9911609		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911609G>A		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.511C>T	3.37:g.9911609G>A	ENSP00000338642:p.Leu171Phe					CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000383817.1_Intron	p.L171F	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			5	650	-	Medulloblastoma(99;0.227)		171					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.511C>T	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768720	0.49680	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.89	1.89	0.25635	.	0.283478	0.34435	N	0.003970	T	0.81626	0.4862	M	0.71581	2.175	0.80722	D	1	P;D	0.56035	0.883;0.974	P;P	0.55577	0.621;0.779	T	0.78186	-0.2302	10	0.72032	D	0.01	-4.1972	2.3823	0.04357	0.1548:0.2847:0.4135:0.147	.	171;181	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	F	171;97;97;181	ENSP00000338642:L171F;ENSP00000392975:L97F;ENSP00000400649:L97F;ENSP00000408631:L181F	ENSP00000338642:L171F	L	-	1	0	CIDEC	9886609	0.994000	0.37717	0.933000	0.37362	0.425000	0.31504	1.341000	0.33907	0.388000	0.25054	0.655000	0.94253	CTT		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		3	45	0	0	0	1	0	3	45				
GLG1	2734	broad.mit.edu	37	16	74526917	74526917	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:74526917G>A	ENST00000422840.2	-	7	1171	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	GLG1_ENST00000447066.2_Missense_Mutation_p.P380L|GLG1_ENST00000205061.5_Missense_Mutation_p.P391L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	391					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGCGATCGCGGAAGGTTTTC	0.413																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1171-1173)cCg>cTg		golgi glycoprotein 1							116.0	103.0	107.0					16																	74526917		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74526917G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1172C>T	16.37:g.74526917G>A	ENSP00000405984:p.Pro391Leu					GLG1_ENST00000205061.5_Missense_Mutation_p.P391L|GLG1_ENST00000447066.2_Missense_Mutation_p.P380L	p.P391L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			7	1171	-			391					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1172C>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305389	0.81247	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	L	0.57536	1.79	0.80722	D	1	D;D;D	0.58970	0.961;0.984;0.964	P;P;P	0.50405	0.64;0.507;0.452	T	0.65117	-0.6246	9	0.45353	T	0.12	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	391;391;380	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	L	391;380;391	.	ENSP00000205061:P391L	P	-	2	0	GLG1	73084418	1.000000	0.71417	0.989000	0.46669	0.390000	0.30446	9.549000	0.98106	2.814000	0.96858	0.655000	0.94253	CCG		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		3	49	0	0	0	1	0	3	49				
XIRP1	165904	broad.mit.edu	37	3	39225734	39225734	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:39225734G>T	ENST00000340369.3	-	2	5431	c.5203C>A	c.(5203-5205)Cct>Act	p.P1735T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGAGGGAGGGGCAGGTTCA	0.587																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5203-5205)Cct>Act		xin actin-binding repeat containing 1							102.0	94.0	97.0					3																	39225734		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225734G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5203C>A	3.37:g.39225734G>T	ENSP00000343140:p.Pro1735Thr					XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T	p.P1735T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5431	-			1735			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5203C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.210360	0.01555	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.18657	3.94;2.2	3.56	2.68	0.31781	.	7.120940	0.01047	U	0.004403	T	0.17577	0.0422	L	0.38175	1.15	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.19386	-1.0307	10	0.20046	T	0.44	.	4.4517	0.11624	0.1195:0.0:0.6604:0.2201	.	1735	Q702N8	XIRP1_HUMAN	T	1735;418	ENSP00000343140:P1735T;ENSP00000391645:P418T	ENSP00000343140:P1735T	P	-	1	0	XIRP1	39200738	0.068000	0.21057	0.003000	0.11579	0.003000	0.03518	3.816000	0.55658	0.860000	0.35481	-0.136000	0.14681	CCT		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		6	94	1	0	0.0215528	1	0.022054	6	94				
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141.0	114.0	123.0					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	58	0	0	0	1	0	3	58				
C4orf29	80167	broad.mit.edu	37	4	128930134	128930134	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr4:128930134T>G	ENST00000444616.1	+	5	585	c.338T>G	c.(337-339)cTt>cGt	p.L113R	C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000388795.5_Missense_Mutation_p.L31R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	113						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCATTCATCTTGCTGGAACA	0.299																																						ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(91-93)cTt>cGt		chromosome 4 open reading frame 29							89.0	82.0	84.0					4																	128930134		1840	4095	5935	SO:0001583	missense	80167					extracellular region		g.chr4:128930134T>G	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.338T>G	4.37:g.128930134T>G	ENSP00000397229:p.Leu113Arg					C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R	p.L31R			Q0P651	CD029_HUMAN			5	495	+			113					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.92T>G		.	.	.	.	.	.	.	.	.	.	T	22.3	4.272228	0.80580	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000002	T	0.80904	0.4713	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84599	0.0671	9	0.87932	D	0	-19.4939	15.1875	0.73016	0.0:0.0:0.0:1.0	.	113	Q0P651	CD029_HUMAN	R	113;113;113;31;31	.	ENSP00000373447:L31R	L	+	2	0	C4orf29	129149584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.692000	0.68256	2.040000	0.60383	0.528000	0.53228	CTT		0.299	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		11	26	0	0	0	1	0	11	26				
PNLDC1	154197	broad.mit.edu	37	6	160225011	160225011	+	Missense_Mutation	SNP	C	C	T	rs370436669		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr6:160225011C>T	ENST00000610273.1	+	5	401	c.230C>T	c.(229-231)tCt>tTt	p.S77F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.S88F|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	77						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATAGCCCATTCTTGTAACTTC	0.418																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(229-231)tCt>tTt		poly(A)-specific ribonuclease (PARN)-like domain containing 1							122.0	124.0	123.0					6																	160225011		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225011C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.230C>T	6.37:g.160225011C>T	ENSP00000476448:p.Ser77Phe					PNLDC1_ENST00000392167.3_Missense_Mutation_p.S88F	p.S77F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	401	+		Breast(66;0.00519)|Ovarian(120;0.123)	77					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.230C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646504	0.67358	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.23552	1.9;1.9	5.19	5.19	0.71726	Ribonuclease H-like (1);	0.000000	0.49305	D	0.000152	T	0.41558	0.1164	M	0.71036	2.16	0.32732	N	0.508813	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.981	T	0.43940	-0.9360	10	0.72032	D	0.01	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	88;77	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	77;88	ENSP00000275275:S77F;ENSP00000376007:S88F	ENSP00000275275:S77F	S	+	2	0	PNLDC1	160145001	0.992000	0.36948	0.015000	0.15790	0.749000	0.42624	3.207000	0.51106	2.411000	0.81874	0.655000	0.94253	TCT		0.418	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		43	69	0	0	0	1	0	43	69				
TIAM1	7074	broad.mit.edu	37	21	32526726	32526726	+	Missense_Mutation	SNP	C	C	T	rs375192468		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr21:32526726C>T	ENST00000286827.3	-	18	3481	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A944T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1004					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGGCAAAATGCGGCCACCTGT	0.582																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3010-3012)Gca>Aca		T-cell lymphoma invasion and metastasis 1		C	THR/ALA	0,4406		0,0,2203	118.0	107.0	110.0		3010	3.6	0.7	21		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1004/1592	32526726	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526726C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3010G>A	21.37:g.32526726C>T	ENSP00000286827:p.Ala1004Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A944T	p.A1004T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3481	-			1004					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3010G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155398	0.57259	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40756	1.02;1.03	5.41	3.56	0.40772	.	0.243774	0.41294	N	0.000916	T	0.37433	0.1003	L	0.59436	1.845	0.53005	D	0.999966	B;B;B	0.30193	0.266;0.272;0.174	B;B;B	0.21917	0.037;0.025;0.017	T	0.41142	-0.9525	10	0.62326	D	0.03	.	12.1719	0.54163	0.0:0.8601:0.0:0.1399	.	944;944;1004	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	1004;845;944	ENSP00000286827:A1004T;ENSP00000441570:A944T	ENSP00000286827:A1004T	A	-	1	0	TIAM1	31448597	1.000000	0.71417	0.708000	0.30435	0.786000	0.44442	3.120000	0.50430	1.522000	0.49001	0.655000	0.94253	GCA		0.582	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		3	60	0	0	0	1	0	3	60				
C1orf87	127795	broad.mit.edu	37	1	60520927	60520927	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:60520927G>C	ENST00000371201.3	-	3	398	c.291C>G	c.(289-291)aaC>aaG	p.N97K	C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	97							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTTCTGGTTGTTTTCTGATT	0.393																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(289-291)aaC>aaG		chromosome 1 open reading frame 87							344.0	324.0	331.0					1																	60520927		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60520927G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.291C>G	1.37:g.60520927G>C	ENSP00000360244:p.Asn97Lys					C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			3	398	-			97					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.291C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030184	0.19512	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.18174	2.23	3.17	2.23	0.28157	.	0.799463	0.11159	N	0.593259	T	0.13072	0.0317	L	0.40543	1.245	0.09310	N	0.999995	P	0.36535	0.557	B	0.33750	0.169	T	0.18304	-1.0341	10	0.49607	T	0.09	.	6.607	0.22731	0.1364:0.0:0.8636:0.0	.	97	Q8N0U7	CA087_HUMAN	K	97	ENSP00000360244:N97K	ENSP00000360244:N97K	N	-	3	2	C1orf87	60293515	0.003000	0.15002	0.008000	0.14137	0.022000	0.10575	0.848000	0.27710	0.895000	0.36342	0.591000	0.81541	AAC		0.393	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		50	145	0	0	0	1	0	50	145				
ERBB4	2066	broad.mit.edu	37	2	212530061	212530061	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:212530061T>C	ENST00000342788.4	-	15	2168	c.1858A>G	c.(1858-1860)Aac>Gac	p.N620D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	620	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGGGTGCAGTTTGGATGGCAT	0.478										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(1858-1860)Aac>Gac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							149.0	130.0	137.0					2																	212530061		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530061T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1858A>G	2.37:g.212530061T>C	ENSP00000342235:p.Asn620Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D	p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	2168	-		Renal(323;0.06)|Lung NSC(271;0.197)	620			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1858A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878426	0.91740	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86497	-2.13;-2.13;-2.13	5.56	5.56	0.83823	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.56280	1.765	0.80722	D	1	P;P;P;P;P	0.51351	0.526;0.944;0.909;0.755;0.641	B;P;P;B;B	0.49999	0.251;0.628;0.626;0.251;0.127	D	0.89897	0.4041	10	0.87932	D	0	.	15.7153	0.77663	0.0:0.0:0.0:1.0	.	620;620;479;620;620	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	D	620	ENSP00000342235:N620D;ENSP00000403204:N620D;ENSP00000385565:N620D	ENSP00000342235:N620D	N	-	1	0	ERBB4	212238306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.033000	0.88852	2.127000	0.65507	0.533000	0.62120	AAC		0.478	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	51	0	0	0	1	0	21	51				
IGSF6	10261	broad.mit.edu	37	16	21658767	21658767	+	Silent	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:21658767T>C	ENST00000268389.4	-	2	175	c.114A>G	c.(112-114)ctA>ctG	p.L38L	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	38	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		AGTCCACTTCTAGGTACCACG	0.552																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(112-114)ctA>ctG		immunoglobulin superfamily, member 6							100.0	78.0	85.0					16																	21658767		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658767T>C	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.114A>G	16.37:g.21658767T>C						METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.L38L	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	175	-			38			Ig-like C2-type.		Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.114A>G	CCDS10599.1																																																																																				0.552	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			11	38	0	0	0	1	0	11	38				
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	T	C	rs111331725		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:29628261T>C	ENST00000278882.3	+	6	643	c.263T>C	c.(262-264)tTt>tCt	p.F88S	FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	88										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(262-264)tTt>tCt																																						SO:0001583	missense	0							g.chr20:29628261T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.263T>C	20.37:g.29628261T>C	ENSP00000278882:p.Phe88Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S	p.F88S							6	643	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.263T>C		.	.	.	.	.	.	.	.	.	.	t	18.59	3.656788	0.67586	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.66995	-0.24	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	.	.	.	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.78585	-0.2147	9	0.87932	D	0	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	93;88	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	88;93;88	ENSP00000408863:F93S	ENSP00000278882:F88S	F	+	2	0	FRG1B	28241922	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	87	0	0	0	1	0	10	87				
C1S	716	broad.mit.edu	37	12	7169982	7169982	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:7169982T>C	ENST00000406697.1	+	6	837	c.209T>C	c.(208-210)gTg>gCg	p.V70A	C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000360817.5_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent	70	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TATGACTCAGTGCAGGTATGT	0.463																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(208-210)gTg>gCg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						117.0	107.0	111.0					12																	7169982		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7169982T>C		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.209T>C	12.37:g.7169982T>C	ENSP00000385035:p.Val70Ala					C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.V70A	p.V70A			P09871	C1S_HUMAN			6	837	+			70			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.209T>C	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383571	0.82792	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.77	5.77	0.91146	CUB (5);	0.000000	0.38548	N	0.001655	T	0.75087	0.3802	H	0.96111	3.77	0.80722	D	1	D	0.61080	0.989	D	0.69479	0.964	T	0.83245	-0.0056	10	0.59425	D	0.04	.	16.1024	0.81184	0.0:0.0:0.0:1.0	.	70	P09871	C1S_HUMAN	A	70;70;70;52;70;70;70	ENSP00000385035:V70A;ENSP00000328173:V70A;ENSP00000354057:V70A;ENSP00000399892:V70A;ENSP00000406643:V70A;ENSP00000384464:V70A	ENSP00000328173:V70A	V	+	2	0	C1S	7040243	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.452000	0.73485	2.200000	0.70718	0.459000	0.35465	GTG		0.463	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		31	41	0	0	0	1	0	31	41				
TESPA1	9840	broad.mit.edu	37	12	55361659	55361659	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:55361659A>T	ENST00000449076.1	-	4	356	c.224T>A	c.(223-225)tTt>tAt	p.F75Y	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	75					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TTCCTCAGAAAATCCTTCTTC	0.373																																						ENST00000449076.1																			0											c.(223-225)tTt>tAt		thymocyte expressed, positive selection associated 1							91.0	87.0	88.0					12																	55361659		1849	4107	5956	SO:0001583	missense	9840							g.chr12:55361659A>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.224T>A	12.37:g.55361659A>T	ENSP00000400892:p.Phe75Tyr					TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR	p.F75Y	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN			4	356	-			75					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.224T>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450380	0.43531	.	.	ENSG00000135426	ENST00000449076;ENST00000316577;ENST00000524668	T;T	0.47528	0.84;0.84	4.74	3.62	0.41486	.	.	.	.	.	T	0.35451	0.0932	L	0.29908	0.895	0.23731	N	0.996994	B	0.25105	0.118	B	0.31751	0.135	T	0.18085	-1.0348	9	0.36615	T	0.2	.	6.2952	0.21081	0.8914:0.0:0.1086:0.0	.	75	A2RU30	K0748_HUMAN	Y	75	ENSP00000400892:F75Y;ENSP00000312679:F75Y	ENSP00000312679:F75Y	F	-	2	0	KIAA0748	53647926	0.857000	0.29778	0.397000	0.26308	0.902000	0.53008	2.949000	0.49074	2.086000	0.62901	0.533000	0.62120	TTT		0.373	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		11	27	0	0	0	1	0	11	27				
BLCAP	10904	broad.mit.edu	37	20	36147327	36147327	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:36147327C>T	ENST00000373537.2	-	2	564	c.250G>A	c.(250-252)Gtt>Att	p.V84I	BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|NNAT_ENST00000346199.2_5'Flank|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000414542.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	84					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				GTGCCCACAACGCCGGGATCA	0.547																																						ENST00000414542.2																			0				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(250-252)Gtt>Att		bladder cancer associated protein							65.0	65.0	65.0					20																	36147327		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147327C>T	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.250G>A	20.37:g.36147327C>T	ENSP00000362637:p.Val84Ile					BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I	p.V84I	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN			3	697	-		Myeloproliferative disorder(115;0.00878)	84					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.250G>A	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015923	0.02078	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	2.88	0.33553	.	0.170852	0.49916	N	0.000135	T	0.13500	0.0327	.	.	.	0.20926	N	0.999828	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	8	0.02654	T	1	.	8.3438	0.32261	0.0:0.7914:0.0:0.2086	.	84	P62952	BLCAP_HUMAN	I	84	.	ENSP00000362637:V84I	V	-	1	0	BLCAP	35580741	1.000000	0.71417	0.389000	0.26208	0.832000	0.47134	3.295000	0.51794	1.299000	0.44798	0.585000	0.79938	GTT		0.547	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698		14	34	0	0	0	1	0	14	34				
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr21:11098827C>T	ENST00000470054.1	-	0	98							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							18.0	29.0	26.0					21																	11098827		691	1591	2282			85319							g.chr21:11098827C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098827C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	98	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	30	0	0	0	1	0	8	30				
POLR1A	25885	broad.mit.edu	37	2	86327179	86327179	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:86327179G>T	ENST00000263857.6	-	2	572	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	65					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACGCAGGTGGAGCACACCTC	0.557																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(193-195)tCc>tAc		polymerase (RNA) I polypeptide A, 194kDa							88.0	92.0	91.0					2																	86327179		1996	4178	6174	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86327179G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.194C>A	2.37:g.86327179G>T	ENSP00000263857:p.Ser65Tyr					POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y	p.S65Y			O95602	RPA1_HUMAN			2	572	-			65					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.194C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323564	0.81580	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.24151	1.87;1.87	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.156649	0.64402	D	0.000016	T	0.49064	0.1535	M	0.79258	2.445	0.54753	D	0.999986	P;P	0.51147	0.855;0.942	P;P	0.54312	0.579;0.748	T	0.48625	-0.9019	10	0.62326	D	0.03	-13.8907	19.9976	0.97389	0.0:0.0:1.0:0.0	.	65;65	B9ZVN9;O95602	.;RPA1_HUMAN	Y	65	ENSP00000263857:S65Y;ENSP00000386300:S65Y	ENSP00000263857:S65Y	S	-	2	0	POLR1A	86180690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.737000	0.93849	0.563000	0.77884	TCC		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		3	39	1	0	0.115264	1	0.115264	3	39				
OTOGL	283310	broad.mit.edu	37	12	80647288	80647288	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:80647288G>T	ENST00000547103.1	+	13	1307	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C434F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	434	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.C434F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGGAAAATTGCCCATGCGGT	0.353																																						ENST00000458043.2																			1	Substitution - Missense(1)	p.C434F(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1300-1302)tGc>tTc		otogelin-like							162.0	155.0	157.0					12																	80647288		1841	4097	5938	SO:0001583	missense	283310							g.chr12:80647288G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1301G>T	12.37:g.80647288G>T	ENSP00000447211:p.Cys434Phe					OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F	p.C434F	NM_173591.3	NP_775862.3					13	1307	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1301G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.244939	0.79912	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.99532	-6.1;-6.1	5.71	5.71	0.89125	.	.	.	.	.	D	0.99809	0.9917	H	0.97023	3.925	0.80722	D	1	.	.	.	.	.	.	D	0.97083	0.9785	7	0.87932	D	0	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	F	434	ENSP00000447211:C434F;ENSP00000400895:C434F	ENSP00000400895:C434F	C	+	2	0	OTOGL	79171419	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.724000	0.91462	2.699000	0.92147	0.650000	0.86243	TGC		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		11	39	1	0	5.50884e-06	1	6.2151e-06	11	39				
SLC22A9	114571	broad.mit.edu	37	11	63137888	63137888	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:63137888G>T	ENST00000279178.3	+	1	609	c.360G>T	c.(358-360)tgG>tgT	p.W120C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	120					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGATGGCTGGGTGTATGACA	0.507																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(358-360)tgG>tgT		solute carrier family 22 (organic anion transporter), member 9							123.0	103.0	110.0					11																	63137888		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137888G>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.360G>T	11.37:g.63137888G>T	ENSP00000279178:p.Trp120Cys					SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			1	609	+			120					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.360G>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217608	0.39201	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	D;D	0.84800	-1.9;-1.9	3.48	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95892	0.8908	10	0.87932	D	0	.	13.0042	0.58694	0.0:0.0:1.0:0.0	.	120	Q8IVM8	S22A9_HUMAN	C	120	ENSP00000311527:W120C;ENSP00000279178:W120C	ENSP00000279178:W120C	W	+	3	0	SLC22A9	62894464	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.991000	0.76232	2.025000	0.59659	0.134000	0.15878	TGG		0.507	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		15	57	1	0	2.23348e-06	1	2.58614e-06	15	57				
MPP2	4355	broad.mit.edu	37	17	41958703	41958703	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr17:41958703T>A	ENST00000461854.1	-	9	985	c.900A>T	c.(898-900)gaA>gaT	p.E300D	MPP2_ENST00000269095.4_Missense_Mutation_p.E276D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CACTGCCCCCTTCGACATGGC	0.582											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(826-828)gaA>gaT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							83.0	85.0	85.0					17																	41958703		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958703T>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.900A>T	17.37:g.41958703T>A	ENSP00000428286:p.Glu300Asp		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D	p.E276D	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	8	1132	-		Breast(137;0.00314)	300			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.828A>T		.	.	.	.	.	.	.	.	.	.	t	13.76	2.333128	0.41297	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.1	-0.224	0.13115	.	.	.	.	.	T	0.70579	0.3240	L	0.31476	0.935	0.51482	D	0.999923	B;B	0.14012	0.009;0.007	B;B	0.21360	0.034;0.011	T	0.55477	-0.8135	9	0.29301	T	0.29	.	9.1251	0.36810	0.0:0.3227:0.0:0.6773	.	321;293	E7EV80;Q14168-3	.;.	D	293;276;300;137;265;265;321	ENSP00000366389:E293D;ENSP00000269095:E276D;ENSP00000428286:E300D;ENSP00000428136:E137D;ENSP00000430540:E265D;ENSP00000438012:E265D;ENSP00000428182:E321D	ENSP00000269095:E276D	E	-	3	2	MPP2	39314229	0.004000	0.15560	0.987000	0.45799	0.782000	0.44232	-1.404000	0.02494	-0.105000	0.12132	0.454000	0.30748	GAA		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		20	46	0	0	0	1	0	20	46				
NOL9	79707	broad.mit.edu	37	1	6592683	6592683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:6592683T>A	ENST00000377705.5	-	8	1407	c.1375A>T	c.(1375-1377)Aaa>Taa	p.K459*		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	459					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTGCTTTTTGTGTACAAG	0.463																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1375-1377)Aaa>Taa		nucleolar protein 9							206.0	203.0	204.0					1																	6592683		2203	4300	6503	SO:0001587	stop_gained	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592683T>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1375A>T	1.37:g.6592683T>A	ENSP00000366934:p.Lys459*						p.K459*	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	8	1407	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	459					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Nonsense_Mutation	SNP	ENST00000377705.5	37	c.1375A>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	38	6.778147	0.97833	.	.	ENSG00000162408	ENST00000377705	.	.	.	6.04	6.04	0.98038	.	0.344464	0.31358	N	0.007785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8246	14.5284	0.67905	0.0:0.0:0.0:1.0	.	.	.	.	X	459	.	ENSP00000366934:K459X	K	-	1	0	NOL9	6515270	0.996000	0.38824	0.182000	0.23118	0.926000	0.56050	5.304000	0.65744	2.317000	0.78254	0.459000	0.35465	AAA		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		8	119	0	0	0	1	0	8	119				
OR4P4	81300	broad.mit.edu	37	11	55405907	55405907	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:55405907G>C	ENST00000314612.2	+	1	74	c.74G>C	c.(73-75)tGc>tCc	p.C25S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAAGTCCTCTGCTTTGTATTA	0.353																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(73-75)tGc>tCc		olfactory receptor, family 4, subfamily P, member 4							124.0	115.0	119.0					11																	55405907		2181	4025	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405907G>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.74G>C	11.37:g.55405907G>C	ENSP00000324831:p.Cys25Ser						p.C25S	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	74	+			25						Missense_Mutation	SNP	ENST00000314612.2	37	c.74G>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276038	0.23307	.	.	ENSG00000181927	ENST00000314612	T	0.02944	4.1	5.02	3.0	0.34707	.	0.348394	0.21229	N	0.078016	T	0.03739	0.0106	N	0.25332	0.735	0.09310	N	1	P	0.38370	0.628	P	0.47346	0.544	T	0.35351	-0.9792	10	0.54805	T	0.06	-3.3595	6.2079	0.20613	0.0871:0.0:0.4423:0.4705	.	25	Q8NGL7	OR4P4_HUMAN	S	25	ENSP00000324831:C25S	ENSP00000324831:C25S	C	+	2	0	OR4P4	55162483	0.000000	0.05858	0.062000	0.19696	0.189000	0.23516	0.610000	0.24253	1.120000	0.41904	0.626000	0.83405	TGC		0.353	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		3	56	0	0	0	1	0	3	56				
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(274-285)agt>ag		inositol-trisphosphate 3-kinase B				530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				SO:0001651	inframe_deletion	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924876_226924884delCTGCCGCTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del					ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	603_611	-		Prostate(94;0.0773)	92					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	c.276_284delCAGCGGCAG	CCDS1555.1																																																																																				0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		4	2						4	2	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13711707	13711709	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr6:13711707_13711709delGCG	ENST00000011619.3	-	1	87_89	c.29_31delCGC	c.(28-33)ccgcag>cag	p.P10del		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			tgctgctgctgcggcggcggcgg	0.764																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-33)cag>c		RAN binding protein 9																																				SO:0001651	inframe_deletion	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711707_13711709delGCG	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29_31delCGC	6.37:g.13711716_13711718delGCG	ENSP00000011619:p.Pro10del						p.PQ10del	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87_89	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	In_Frame_Del	DEL	ENST00000011619.3	37	c.29_31delCGC	CCDS4529.1																																																																																				0.764	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			4	6						4	6	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151864240	151864249	+	Frame_Shift_Del	DEL	CTGTTTCTGA	CTGTTTCTGA	-			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr7:151864240_151864249delCTGTTTCTGA	ENST00000262189.6	-	42	9950_9959	c.9732_9741delTCAGAAACAG	c.(9730-9741)gttcagaaacagfs	p.VQKQ3244fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.VQKQ3244fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3244	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGTTCTAGCTGTTTCTGAACCATGCTTT	0.386																																						ENST00000355193.2																			0											c.(9730-9741)gtfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151864240_151864249delCTGTTTCTGA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9732_9741delTCAGAAACAG	7.37:g.151864240_151864249delCTGTTTCTGA	ENSP00000262189:p.Val3244fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.VQKQ3244fs	p.VQKQ3244fs							42	9950_9959	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.9732_9741delTCAGAAACAG	CCDS5931.1																																																																																				0.386	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	89						8	89	---	---	---	---
ZNF7	7553	broad.mit.edu	37	8	146068408	146068409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:146068408_146068409insT	ENST00000528372.1	+	5	2156_2157	c.1916_1917insT	c.(1915-1920)tgtgagfs	p.E640fs	ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs			P17097	ZNF7_HUMAN	zinc finger protein 7	640					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGAAGACTGTGAGAAGATAT	0.426																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1915-1917)tgafs		zinc finger protein 7																																				SO:0001589	frameshift_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068408_146068409insT	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1917dupT	8.37:g.146068409_146068409dupT	ENSP00000432724:p.Glu640fs					ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.*639fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.*543fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.*650fs|ZNF7_ENST00000525266.1_Intron	p.*639fs			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	2156_2157	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	639					B4DT08|D3DWN6|P17015|Q8N8Y4	Frame_Shift_Ins	INS	ENST00000528372.1	37	c.1916_1917insT	CCDS6435.1																																																																																				0.426	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		12	112						12	112	---	---	---	---
ABO	28	broad.mit.edu	37	9	136131057	136131057	+	RNA	DEL	G	G	-	rs8176750|rs56392308	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr9:136131057delG	ENST00000453660.2	-	0	1071				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)	p.P353fs?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCCGCTCACGGGTTCCGGAC	0.662													GGG|GGG|GG|deletion	242	0.0483227	0.0658	0.0432	5008	,	,		13669	0.0		0.0954	False		,,,				2504	0.0297					ENST00000453660.2																			1	Deletion - Frameshift(1)	p.P353fs?(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)				234,3304		17,200,1552	9.0	10.0	10.0			-7.1	0.0	9	dbSNP_129	10	533,7273		35,463,3405	no	frameshift	ABO	NM_020469.2		52,663,4957	A1A1,A1R,RR		6.8281,6.6139,6.7613			136131057	767,10577	1853	4054	5907			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131057delG	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131057delG										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	1071	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	DEL	ENST00000453660.2	37																																																																																						0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		7	2						7	2	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			0							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	45						9	45	---	---	---	---
