#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AUNIP	79000	broad.mit.edu	37	1	26162205	26162205	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:26162205G>T	ENST00000374298.3	-	3	407	c.353C>A	c.(352-354)cCt>cAt	p.P118H	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.P118H	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	118					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGTGGCTAAAGGGGATGCCAT	0.483																																						uc001bkw.1		NA																	0					0						c.(352-354)CCT>CAT		aurora A-binding protein							174.0	163.0	167.0					1																	26162205		2203	4300	6503	SO:0001583	missense	79000							g.chr1:26162205G>T		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.353C>A	1.37:g.26162205G>T	ENSP00000363416:p.Pro118His						p.P118H	NM_024037	NP_076942	Q9H7T9	CA135_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	3	353	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)	118					C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	c.353C>A	CCDS266.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335093	0.60853	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56611	0.45;0.45	5.14	5.14	0.70334	.	0.000000	0.50627	D	0.000118	T	0.62122	0.2402	L	0.36672	1.1	0.35603	D	0.808017	D	0.89917	1.0	D	0.70016	0.967	T	0.70699	-0.4800	10	0.72032	D	0.01	-10.7659	13.9704	0.64237	0.0:0.0:1.0:0.0	.	118	Q9H7T9	CA135_HUMAN	H	118	ENSP00000443647:P118H;ENSP00000363416:P118H	ENSP00000363416:P118H	P	-	2	0	C1orf135	26034792	1.000000	0.71417	0.989000	0.46669	0.630000	0.37929	4.235000	0.58666	2.671000	0.90904	0.585000	0.79938	CCT		0.483	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		5	84	1	0	0.00116845	0.00931082	5	84				
MACF1	23499	broad.mit.edu	37	1	39903546	39903546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:39903546G>C	ENST00000372915.3	+	70	17870	c.17783G>C	c.(17782-17784)aGa>aCa	p.R5928T	MACF1_ENST00000361689.2_Missense_Mutation_p.R3970T|MACF1_ENST00000317713.7_Missense_Mutation_p.R3970T|MACF1_ENST00000564288.1_Missense_Mutation_p.R6029T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4472T|MACF1_ENST00000545844.1_Missense_Mutation_p.R3970T|MACF1_ENST00000539005.1_Missense_Mutation_p.R3840T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6066T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5928					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAGATCAGAGAGTGCATC	0.488																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(13414-13416)AGA>ACA		microfilament and actin filament cross-linker							169.0	156.0	160.0					1																	39903546		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39903546G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17783G>C	1.37:g.39903546G>C	ENSP00000362006:p.Arg5928Thr					MACF1_uc010ois.1_Missense_Mutation_p.R3970T	p.R4472T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	13546	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13415G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.599322|4.599322	0.87055|0.87055	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.52526	.|0.66;0.66;0.66;0.66;0.66;0.66	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.71609|0.71609	0.3360|0.3360	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.979	T|T	0.74674|0.74674	-0.3586|-0.3586	5|10	.|0.87932	.|D	.|0	.|.	19.497|19.497	0.95077|0.95077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5928;3970	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	H|T	2973|3970;5928;3970;3970;3840;4472	.|ENSP00000439537:R3970T;ENSP00000362006:R5928T;ENSP00000354573:R3970T;ENSP00000313438:R3970T;ENSP00000444364:R3840T;ENSP00000289893:R4472T	.|ENSP00000289893:R4472T	Q|R	+|+	3|2	2|0	MACF1|MACF1	39676133|39676133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.763000|5.763000	0.68818|0.68818	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	134	0	0	0	0	3	134				
RAVER2	55225	broad.mit.edu	37	1	65243359	65243359	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:65243359C>G	ENST00000294428.3	+	3	448	c.370C>G	c.(370-372)Cat>Gat	p.H124D	RAVER2_ENST00000430964.2_5'Flank|RAVER2_ENST00000371072.4_Missense_Mutation_p.H124D			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	124	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCAGATGTTTCATCAATATTC	0.348																																						uc001dbs.1		NA																	0				large_intestine(1)	1						c.(370-372)CAT>GAT		ribonucleoprotein, PTB-binding 2							109.0	97.0	101.0					1																	65243359		1843	4087	5930	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65243359C>G	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.370C>G	1.37:g.65243359C>G	ENSP00000294428:p.His124Asp					RAVER2_uc001dbt.1_Missense_Mutation_p.H3D|RAVER2_uc010opb.1_Missense_Mutation_p.H3D	p.H124D	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			3	448	+			124			RRM 1.		Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.370C>G		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397257	0.83120	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.39229	1.09;1.09	5.61	5.61	0.85477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56019	-0.8048	10	0.59425	D	0.04	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	124;124	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	D	124	ENSP00000360112:H124D;ENSP00000294428:H124D	ENSP00000294428:H124D	H	+	1	0	RAVER2	65015947	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.466000	0.80914	2.623000	0.88846	0.655000	0.94253	CAT		0.348	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		3	111	0	0	0	0	3	111				
FCGR1A	2209	broad.mit.edu	37	1	149761632	149761632	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:149761632G>A	ENST00000369168.4	+	5	636	c.582G>A	c.(580-582)ctG>ctA	p.L194L	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	194	Ig-like C2-type 3.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCAGTGCTGAATGCATCTG	0.498																																						uc001esp.3		NA																	0				ovary(1)	1						c.(580-582)CTG>CTA		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						26.0	37.0	33.0					1																	149761632		2165	4294	6459	SO:0001819	synonymous_variant	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149761632G>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.582G>A	1.37:g.149761632G>A						HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron	p.L194L	NM_000566	NP_000557	P12314	FCGR1_HUMAN			5	632	+	Breast(34;0.0124)|all_hematologic(923;0.127)		194			Extracellular (Potential).|Ig-like C2-type 3.		P12315|Q5QNW7|Q92495|Q92663	Silent	SNP	ENST00000369168.4	37	c.582G>A	CCDS933.1																																																																																				0.498	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		5	65	0	0	0	0	5	65				
HRNR	388697	broad.mit.edu	37	1	152191393	152191393	+	Silent	SNP	G	G	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:152191393G>T	ENST00000368801.2	-	3	2787	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	904					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATAGCTGGGAGACTGCC	0.647																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2710-2712)CCC>CCA		hornerin							101.0	112.0	108.0					1																	152191393		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191393G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2712C>A	1.37:g.152191393G>T							p.P904P	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		904			10		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2712C>A	CCDS30859.1																																																																																				0.647	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		30	175	1	0	3.99e-17	3.44e-16	30	175				
ZBTB7B	51043	broad.mit.edu	37	1	154987971	154987971	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:154987971G>A	ENST00000368426.3	+	3	972	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E279K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E313K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E279K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	279					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGAAGAAGAAGAGGAGCT	0.657																																						uc001fgk.3		NA																	0					0						c.(835-837)GAA>AAA		zinc finger and BTB domain containing 7B							38.0	39.0	39.0					1																	154987971		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987971G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.835G>A	1.37:g.154987971G>A	ENSP00000357411:p.Glu279Lys					ZBTB7B_uc009wpa.2_Missense_Mutation_p.E279K|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E313K|ZBTB7B_uc010peq.1_Missense_Mutation_p.E313K|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E279K	p.E279K	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	993	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		279					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.835G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414234	0.25465	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.08807	3.08;3.08;3.05;3.08	4.3	4.3	0.51218	.	0.320514	0.28322	N	0.015765	T	0.01421	0.0046	N	0.19112	0.55	0.29153	N	0.878253	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.34873	0.191;0.191;0.191	T	0.36529	-0.9744	10	0.07325	T	0.83	.	9.5149	0.39100	0.0:0.0:0.7896:0.2103	.	279;279;313	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	279;279;313;279	ENSP00000438647:E279K;ENSP00000357411:E279K;ENSP00000406286:E313K;ENSP00000292176:E279K	ENSP00000292176:E279K	E	+	1	0	ZBTB7B	153254595	0.995000	0.38212	0.993000	0.49108	0.983000	0.72400	3.557000	0.53741	2.229000	0.72834	0.462000	0.41574	GAA		0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		6	29	0	0	0	0	6	29				
TRAF5	7188	broad.mit.edu	37	1	211545470	211545470	+	Splice_Site	SNP	C	C	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:211545470C>A	ENST00000261464.5	+	11	1154	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	TRAF5_ENST00000427925.2_Splice_Site_p.A261D|TRAF5_ENST00000336184.2_Splice_Site_p.A367D|TRAF5_ENST00000367004.3_Splice_Site_p.A367D	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	367	Interaction with EIF2AK2/PKR.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTGCAGCCGTTTTAGAA	0.318																																						uc001hih.2		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1099-1101)GCC>GAC		TNF receptor-associated factor 5							50.0	56.0	54.0					1																	211545470		2186	4294	6480	SO:0001630	splice_region_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211545470C>A	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1100-1C>A	1.37:g.211545470C>A						TRAF5_uc001hii.2_Missense_Mutation_p.A367D|TRAF5_uc010psx.1_Missense_Mutation_p.A378D|TRAF5_uc010psy.1_Missense_Mutation_p.A261D|TRAF5_uc001hij.2_Missense_Mutation_p.A367D	p.A367D	NM_004619	NP_004610	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	11	1160	+			367					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.1100C>A	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000324	0.19121	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37235	2.09;1.21;2.09;2.09	5.03	3.91	0.45181	.	0.264825	0.29830	N	0.011093	T	0.19167	0.0460	N	0.19112	0.55	0.42524	D	0.993018	B;B;B	0.13594	0.008;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.07731	-1.0757	9	.	.	.	.	4.6811	0.12736	0.1402:0.1596:0.0:0.7002	.	261;378;367	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	D	367;261;367;367	ENSP00000336825:A367D;ENSP00000389891:A261D;ENSP00000261464:A367D;ENSP00000355971:A367D	.	A	+	2	0	TRAF5	209612093	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.529000	0.35996	0.879000	0.35944	-0.378000	0.06908	GCC		0.318	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	Missense_Mutation	17	52	1	0	3.41e-10	2.9e-09	17	52				
SMYD2	56950	broad.mit.edu	37	1	214478569	214478569	+	Silent	SNP	A	A	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:214478569A>C	ENST00000366957.5	+	2	235	c.213A>C	c.(211-213)gcA>gcC	p.A71A	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Silent_p.A71A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	71	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCAAGCAGGCATTTTACTGCA	0.473																																						uc010ptx.1		NA																	0				ovary(1)	1						c.(211-213)GCA>GCC		SET and MYND domain containing 2							199.0	186.0	190.0					1																	214478569		2203	4300	6503	SO:0001819	synonymous_variant	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214478569A>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.213A>C	1.37:g.214478569A>C						SMYD2_uc009xdj.2_Intron|SMYD2_uc010ptw.1_Intron|SMYD2_uc009xdl.1_RNA	p.A71A	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	2	246	+			71			MYND-type.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Silent	SNP	ENST00000366957.5	37	c.213A>C	CCDS31022.1																																																																																				0.473	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		32	109	0	0	0	0	32	109				
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G	rs200429699		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577													A|||	1	0.000199681	0.0	0.0	5008	,	,		15267	0.0		0.001	False		,,,				2504	0.0					uc001jut.3		NA																	0				ovary(1)	1						c.(2458-2460)TTT>CTT		synaptopodin 2-like isoform a							62.0	74.0	70.0					10																	75406952		2202	4300	6502	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406952A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2458T>C	10.37:g.75406952A>G	ENSP00000378289:p.Phe820Leu					SYNPO2L_uc001jus.3_Missense_Mutation_p.F596L	p.F820L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2610	-	Prostate(51;0.0112)		820			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2458T>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813125	0.70912	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.22539	1.95;2.26	4.98	4.98	0.66077	.	0.119748	0.64402	D	0.000019	T	0.23766	0.0575	L	0.54323	1.7	0.44500	D	0.997447	P;P	0.45531	0.666;0.86	B;P	0.44561	0.162;0.453	T	0.03597	-1.1021	10	0.12103	T	0.63	-5.368	14.8374	0.70194	1.0:0.0:0.0:0.0	.	820;596	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	596;820	ENSP00000361964:F596L;ENSP00000378289:F820L	ENSP00000361964:F596L	F	-	1	0	SYNPO2L	75076958	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.090000	0.63153	0.402000	0.26972	TTT		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		3	116	0	0	0	0	3	116				
CYP2C9	1559	broad.mit.edu	37	10	96708979	96708979	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:96708979G>A	ENST00000260682.6	+	5	769	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	253					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGAACACCAAGAATCAATGGA	0.333																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	0				skin(4)|ovary(2)	6						c.(757-759)GAA>AAA		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						86.0	89.0	88.0					10																	96708979		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96708979G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.757G>A	10.37:g.96708979G>A	ENSP00000260682:p.Glu253Lys					CYP2C9_uc009xut.2_Missense_Mutation_p.E253K	p.E253K	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	5	782	+		Colorectal(252;0.0902)	253					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.757G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.664136	0.29604	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69435	-0.4	3.29	1.24	0.21308	.	0.184267	0.36101	U	0.002797	T	0.49201	0.1543	L	0.41632	1.29	0.27690	N	0.946156	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.27054	-1.0085	10	0.23302	T	0.38	.	5.3116	0.15833	0.448:0.0:0.552:0.0	.	253;253	Q5VX92;P11712	.;CP2C9_HUMAN	K	253	ENSP00000260682:E253K	ENSP00000260682:E253K	E	+	1	0	CYP2C9	96698969	0.100000	0.21855	0.023000	0.16930	0.635000	0.38103	0.762000	0.26503	0.168000	0.19655	0.491000	0.48974	GAA		0.333	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	45	0	0	0	0	6	45				
OR51L1	119682	broad.mit.edu	37	11	5021081	5021081	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:5021081A>G	ENST00000321543.1	+	1	869	c.869A>G	c.(868-870)aAc>aGc	p.N290S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCCTTAACCCTATTGTC	0.458																																						uc010qyu.1		NA																	0				skin(1)	1						c.(868-870)AAC>AGC		olfactory receptor, family 51, subfamily L,							123.0	110.0	114.0					11																	5021081		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5021081A>G	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.869A>G	11.37:g.5021081A>G	ENSP00000322156:p.Asn290Ser						p.N290S	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	869	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	290			Helical; Name=7; (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.869A>G	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124344	0.77436	.	.	ENSG00000176798	ENST00000321543	T	0.58652	0.32	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000306	D	0.82981	0.5155	H	0.96111	3.77	0.33315	D	0.566575	D	0.89917	1.0	D	0.79108	0.992	D	0.91299	0.5065	10	0.87932	D	0	.	14.4424	0.67327	1.0:0.0:0.0:0.0	.	290	Q8NGJ5	O51L1_HUMAN	S	290	ENSP00000322156:N290S	ENSP00000322156:N290S	N	+	2	0	OR51L1	4977657	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	8.640000	0.91028	2.277000	0.76020	0.528000	0.53228	AAC		0.458	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		5	43	0	0	0	0	5	43				
TENM4	26011	broad.mit.edu	37	11	78413296	78413296	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:78413296G>A	ENST00000278550.7	-	28	4824	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1454					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCAGGAAGTGGTCAATGCCAG	0.547																																						uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(4360-4362)GAC>GAT		odz, odd Oz/ten-m homolog 4							67.0	67.0	67.0					11																	78413296		2069	4195	6264	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78413296G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4362C>T	11.37:g.78413296G>A						ODZ4_uc009yvb.1_Silent_p.D38D	p.D1454D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	4825	-			1454			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.4362C>T	CCDS44688.1																																																																																				0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			9	41	0	0	0	0	9	41				
CCDC89	220388	broad.mit.edu	37	11	85396815	85396815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:85396815C>T	ENST00000316398.3	-	1	505	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	120						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTAGTTTCCGACTGTACTC	0.542																																						uc001pau.1		NA																	0					0						c.(358-360)CGG>CAG		coiled-coil domain containing 89							117.0	92.0	100.0					11																	85396815		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396815C>T	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.359G>A	11.37:g.85396815C>T	ENSP00000320649:p.Arg120Gln						p.R120Q	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	506	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	120			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.359G>A	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.554771	0.00918	.	.	ENSG00000179071	ENST00000316398	.	.	.	4.92	-9.83	0.00482	.	0.530450	0.18377	N	0.143083	T	0.07052	0.0179	N	0.00707	-1.245	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.28870	-1.0030	8	.	.	.	-1.866	10.0322	0.42107	0.1484:0.1585:0.0:0.6931	.	120	Q8N998	CCD89_HUMAN	Q	120	.	.	R	-	2	0	CCDC89	85074463	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.532000	0.06164	-2.436000	0.00553	-0.726000	0.03593	CGG		0.542	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		6	103	0	0	0	0	6	103				
CWF19L2	143884	broad.mit.edu	37	11	107224441	107224441	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:107224441C>G	ENST00000282251.5	-	13	1921	c.1894G>C	c.(1894-1896)Gac>Cac	p.D632H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.D632H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	632							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTGTAATAGTCTCCATCTGTT	0.388																																						uc010rvp.1		NA																	0					0						c.(1894-1896)GAC>CAC		CWF19-like 2, cell cycle control							74.0	74.0	74.0					11																	107224441		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224441C>G	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1894G>C	11.37:g.107224441C>G	ENSP00000282251:p.Asp632His					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_Intron	p.D632H	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	1924	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	632					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1894G>C	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828566	0.90955	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.24908	2.58;1.83	5.95	5.95	0.96441	.	0.083554	0.85682	D	0.000000	T	0.52645	0.1747	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.52305	-0.8593	10	0.87932	D	0	-22.4824	19.3813	0.94536	0.0:1.0:0.0:0.0	.	632	Q2TBE0	C19L2_HUMAN	H	632	ENSP00000282251:D632H;ENSP00000387533:D632H	ENSP00000282251:D632H	D	-	1	0	CWF19L2	106729651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.742000	0.85008	2.824000	0.97209	0.655000	0.94253	GAC		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		14	75	0	0	0	0	14	75				
A2ML1	144568	broad.mit.edu	37	12	9027036	9027036	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:9027036C>G	ENST00000299698.7	+	34	4417	c.4237C>G	c.(4237-4239)Cag>Gag	p.Q1413E	A2ML1_ENST00000539547.1_Missense_Mutation_p.Q922E	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAAGAACACTCAGACTTACAC	0.433																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(4237-4239)CAG>GAG		alpha-2-macroglobulin-like 1 precursor							147.0	144.0	145.0					12																	9027036		2001	4165	6166	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9027036C>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4237C>G	12.37:g.9027036C>G	ENSP00000299698:p.Gln1413Glu					A2ML1_uc001qva.1_Missense_Mutation_p.Q993E|A2ML1_uc010sgm.1_Missense_Mutation_p.Q913E|A2ML1_uc001qvb.1_RNA	p.Q1413E	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			34	4335	+			1257						Missense_Mutation	SNP	ENST00000299698.7	37	c.4237C>G	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	1.938	-0.444311	0.04604	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.20200	2.09;2.09;2.09	3.32	3.32	0.38043	Alpha-macroglobulin, receptor-binding (3);	0.843301	0.09899	N	0.741297	T	0.09949	0.0244	N	0.04203	-0.255	0.22880	N	0.998619	B	0.32968	0.392	B	0.30401	0.115	T	0.09164	-1.0687	10	0.12766	T	0.61	.	12.9415	0.58348	0.0:1.0:0.0:0.0	.	1413	A8K2U0	A2ML1_HUMAN	E	1413;1413;963;922	ENSP00000299698:Q1413E;ENSP00000443174:Q963E;ENSP00000438292:Q922E	ENSP00000299698:Q1413E	Q	+	1	0	A2ML1	8918303	1.000000	0.71417	0.815000	0.32552	0.526000	0.34562	3.173000	0.50839	2.163000	0.67991	0.650000	0.86243	CAG		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		18	54	0	0	0	0	18	54				
TM7SF3	51768	broad.mit.edu	37	12	27149786	27149786	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:27149786G>A	ENST00000343028.4	-	4	632	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACAGCCTCCAGGGACAGGATC	0.353																																						uc010sjl.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(406-408)CCT>CTT		transmembrane 7 superfamily member 3 precursor							50.0	49.0	49.0					12																	27149786		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27149786G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.407C>T	12.37:g.27149786G>A	ENSP00000342322:p.Pro136Leu						p.P136L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			4	645	-	Colorectal(261;0.0847)		136					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.407C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408733	0.83340	.	.	ENSG00000064115	ENST00000343028;ENST00000543803;ENST00000539741;ENST00000543088;ENST00000535423;ENST00000512808	T;T;T;T	0.80653	-0.03;0.01;0.05;-1.4	4.4	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89720	0.3918	10	0.87932	D	0	-17.1789	13.2831	0.60226	0.0815:0.0:0.9185:0.0	.	136	Q9NS93	TM7S3_HUMAN	L	136;34;14;14;14;115	ENSP00000342322:P136L;ENSP00000442617:P34L;ENSP00000441027:P14L;ENSP00000444632:P14L	ENSP00000342322:P136L	P	-	2	0	TM7SF3	27041053	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.784000	0.75084	2.448000	0.82819	0.563000	0.77884	CCT		0.353	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		4	22	0	0	0	0	4	22				
MDM1	56890	broad.mit.edu	37	12	68724993	68724993	+	Silent	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:68724993A>G	ENST00000303145.7	-	2	113	c.27T>C	c.(25-27)agT>agC	p.S9S	MDM1_ENST00000393543.3_Silent_p.S9S|MDM1_ENST00000430606.2_Silent_p.S9S|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Silent_p.S9S|MDM1_ENST00000540418.1_5'UTR|RP11-81H14.2_ENST00000541707.1_lincRNA	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	9					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCTGGTATTCACTCAGCCCCT	0.418																																						uc001stz.2		NA																	0				ovary(3)|skin(2)	5						c.(25-27)AGT>AGC		mouse Mdm1 nuclear protein homolog isoform 1							99.0	102.0	101.0					12																	68724993		2203	4300	6503	SO:0001819	synonymous_variant	56890					nucleus		g.chr12:68724993A>G	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.27T>C	12.37:g.68724993A>G						MDM1_uc010stc.1_Silent_p.S9S|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_Silent_p.S9S|MDM1_uc010std.1_Silent_p.S9S	p.S9S	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	2	163	-			9					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	c.27T>C	CCDS8983.1																																																																																				0.418	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		9	161	0	0	0	0	9	161				
NAV3	89795	broad.mit.edu	37	12	78400292	78400292	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:78400292C>T	ENST00000397909.2	+	8	1147	c.974C>T	c.(973-975)tCt>tTt	p.S325F	NAV3_ENST00000228327.6_Missense_Mutation_p.S325F|NAV3_ENST00000266692.7_Missense_Mutation_p.S325F|NAV3_ENST00000536525.2_Missense_Mutation_p.S325F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	325						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S325F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCATCCCTTCTCCAAGTGCC	0.547										HNSCC(70;0.22)																												uc001syp.2		NA																	1	Substitution - Missense(1)		skin(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(973-975)TCT>TTT		neuron navigator 3							57.0	60.0	59.0					12																	78400292		2083	4218	6301	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400292C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.974C>T	12.37:g.78400292C>T	ENSP00000381007:p.Ser325Phe	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S325F	p.S325F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1147	+			325					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.974C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.975957	0.74360	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.4	5.4	0.78164	.	0.000000	0.40064	U	0.001193	T	0.62804	0.2458	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.961	T	0.65228	-0.6219	10	0.87932	D	0	-11.8226	19.1684	0.93567	0.0:1.0:0.0:0.0	.	325;325	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	F	325	ENSP00000446628:S325F;ENSP00000446132:S325F;ENSP00000381007:S325F;ENSP00000228327:S325F;ENSP00000266692:S325F	ENSP00000228327:S325F	S	+	2	0	NAV3	76924423	0.998000	0.40836	0.998000	0.56505	0.872000	0.50106	3.772000	0.55325	2.528000	0.85240	0.561000	0.74099	TCT		0.547	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	65	0	0	0	0	14	65				
STYX	6815	broad.mit.edu	37	14	53223283	53223283	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr14:53223283A>T	ENST00000354586.4	+	5	550	c.257A>T	c.(256-258)gAt>gTt	p.D86V	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.D86V	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	86					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TTAGTCCTGGATATTGCAGAT	0.249																																						uc010tqy.1		NA																	0					0						c.(256-258)GAT>GTT		serine/threonine/tyrosine interacting protein							39.0	44.0	43.0					14																	53223283		2189	4282	6471	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53223283A>T		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.257A>T	14.37:g.53223283A>T	ENSP00000346599:p.Asp86Val					STYX_uc001xaa.2_Missense_Mutation_p.D86V	p.D86V	NM_001130701	NP_001124173	Q8WUJ0	STYX_HUMAN			6	319	+	Breast(41;0.176)		86					B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.257A>T	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195493	0.78902	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	D;D	0.89875	-2.58;-2.58	5.47	5.47	0.80525	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.78223	2.4	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.94225	0.7471	10	0.54805	T	0.06	.	15.8584	0.79005	1.0:0.0:0.0:0.0	.	86	Q8WUJ0	STYX_HUMAN	V	86	ENSP00000403214:D86V;ENSP00000346599:D86V	ENSP00000346599:D86V	D	+	2	0	STYX	52293033	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.153000	0.89640	2.201000	0.70794	0.528000	0.53228	GAT		0.249	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		8	49	0	0	0	0	8	49				
MAPKBP1	23005	broad.mit.edu	37	15	42111558	42111558	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42111558G>A	ENST00000456763.2	+	22	2620	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	MAPKBP1_ENST00000221214.6_Silent_p.K685K|MAPKBP1_ENST00000514566.1_Silent_p.K802K|MAPKBP1_ENST00000457542.2_Silent_p.K802K|MAPKBP1_ENST00000260357.7_Silent_p.K641K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	808										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCTTGCCAAGAGTACCAAGA	0.542																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2422-2424)AAG>AAA		mitogen-activated protein kinase binding protein							108.0	106.0	106.0					15																	42111558		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42111558G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2424G>A	15.37:g.42111558G>A						MAPKBP1_uc001zoj.3_Silent_p.K802K|MAPKBP1_uc010bcj.2_Silent_p.K309K|MAPKBP1_uc010bci.2_Silent_p.K802K|MAPKBP1_uc010udb.1_Silent_p.K641K|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.K309K	p.K808K	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	22	2710	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	808					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.2424G>A	CCDS45239.1																																																																																				0.542	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		13	116	0	0	0	0	13	116				
LRRC57	255252	broad.mit.edu	37	15	42839505	42839505	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42839505G>A	ENST00000323443.2	-	3	813	c.446C>T	c.(445-447)tCa>tTa	p.S149L	HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.S149L|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000397130.3_Missense_Mutation_p.S149L|HAUS2_ENST00000260372.3_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	149						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTCTCCCACTGAGTCAGGTAT	0.468																																						uc001zqd.1		NA																	0					0						c.(445-447)TCA>TTA		leucine rich repeat containing 57							96.0	86.0	89.0					15																	42839505		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42839505G>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.446C>T	15.37:g.42839505G>A	ENSP00000326817:p.Ser149Leu					HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.S149L	p.S149L	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	3	814	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	149			LRR 5.		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.446C>T	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930868	0.18131	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.55052	0.54;0.54	5.41	-7.93	0.01156	.	1.043820	0.07424	N	0.894567	T	0.49236	0.1545	M	0.75085	2.285	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40117	-0.9580	10	0.31617	T	0.26	.	15.1807	0.72956	0.091:0.0855:0.7386:0.0849	.	149	Q8N9N7	LRC57_HUMAN	L	149	ENSP00000326817:S149L;ENSP00000380319:S149L	ENSP00000326817:S149L	S	-	2	0	LRRC57	40626797	0.000000	0.05858	0.001000	0.08648	0.462000	0.32619	-0.544000	0.06077	-1.429000	0.01987	-0.793000	0.03317	TCA		0.468	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		7	84	0	0	0	0	7	84				
ZNF592	9640	broad.mit.edu	37	15	85341886	85341886	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:85341886C>G	ENST00000560079.2	+	8	3092	c.2804C>G	c.(2803-2805)tCa>tGa	p.S935*	ZNF592_ENST00000299927.3_Nonsense_Mutation_p.S935*	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	935					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACACATCCTCAAGCCGCCCT	0.632																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(2803-2805)TCA>TGA		zinc finger protein 592							37.0	40.0	39.0					15																	85341886		2203	4299	6502	SO:0001587	stop_gained	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85341886C>G	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2804C>G	15.37:g.85341886C>G	ENSP00000452877:p.Ser935*					ZNF592_uc010upb.1_RNA	p.S935*	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3140	+			935					Q2M1T2|Q504Y9	Nonsense_Mutation	SNP	ENST00000560079.2	37	c.2804C>G	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618603	0.87460	.	.	ENSG00000166716	ENST00000299927	.	.	.	4.75	4.75	0.60458	.	0.590245	0.17604	N	0.168336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.6937	10.3552	0.43960	0.1957:0.8043:0.0:0.0	.	.	.	.	X	935	.	ENSP00000299927:S935X	S	+	2	0	ZNF592	83142890	0.847000	0.29606	0.483000	0.27378	0.108000	0.19459	2.100000	0.41777	2.439000	0.82584	0.655000	0.94253	TCA		0.632	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		9	50	0	0	0	0	9	50				
SEZ6L2	26470	broad.mit.edu	37	16	29888272	29888272	+	Splice_Site	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:29888272C>T	ENST00000308713.5	-	12	2437		c.e12-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCGGGACCTCTGCAGGGGAG	0.662																																						uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.e12-1		seizure related 6 homolog (mouse)-like 2 isoform							28.0	30.0	29.0					16																	29888272		2197	4300	6497	SO:0001630	splice_region_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888272C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1910-1G>A	16.37:g.29888272C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.E567_splice|SEZ6L2_uc002dur.3_Splice_Site_p.E567_splice|SEZ6L2_uc002dus.3_Splice_Site_p.E523_splice|SEZ6L2_uc010vec.1_Splice_Site_p.E637_splice|SEZ6L2_uc010ved.1_Splice_Site_p.E593_splice	p.E637_splice	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			12	2150	-								B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Splice_Site	SNP	ENST00000308713.5	37	c.1910_splice	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254929	0.95336	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3115	0.90201	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6L2	29795773	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.466000	0.80914	2.618000	0.88619	0.655000	0.94253	.		0.662	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	Intron	3	18	0	0	0	0	3	18				
KAT8	84148	broad.mit.edu	37	16	31138398	31138398	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:31138398G>A	ENST00000543774.2	+	5	840	c.505G>A	c.(505-507)Gag>Aag	p.E169K	KAT8_ENST00000448516.2_Missense_Mutation_p.E169K|KAT8_ENST00000219797.4_Missense_Mutation_p.E169K			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	169					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CTTGGAGAAGGAGCATGAGGC	0.622																																						uc002eay.2		NA																	0				ovary(1)	1						c.(505-507)GAG>AAG		MYST histone acetyltransferase 1 isoform 1							95.0	96.0	95.0					16																	31138398		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31138398G>A	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.505G>A	16.37:g.31138398G>A	ENSP00000456933:p.Glu169Lys					MYST1_uc002eax.2_Missense_Mutation_p.E169K|MYST1_uc002eaz.2_Missense_Mutation_p.E11K|MYST1_uc002eba.2_5'Flank|MYST1_uc002ebb.2_5'Flank	p.E169K	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			4	523	+			169					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.505G>A	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284310	0.95517	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.48836	0.8;0.8	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.993	T	0.71731	-0.4504	10	0.72032	D	0.01	-26.5113	18.2773	0.90087	0.0:0.0:1.0:0.0	.	169;169	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	K	169	ENSP00000219797:E169K;ENSP00000406037:E169K	ENSP00000219797:E169K	E	+	1	0	KAT8	31045899	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	6.916000	0.75776	2.623000	0.88846	0.558000	0.71614	GAG		0.622	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		13	47	0	0	0	0	13	47				
NMT1	4836	broad.mit.edu	37	17	43175832	43175832	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr17:43175832G>C	ENST00000592782.1	+	8	927	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	NMT1_ENST00000258960.2_Missense_Mutation_p.E266Q			P30419	NMT1_HUMAN	N-myristoyltransferase 1	266					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCTGATCCGAGAGATCACCAG	0.522																																						uc002ihz.2		NA																	0					0						c.(796-798)GAG>CAG		N-myristoyltransferase 1							120.0	116.0	117.0					17																	43175832		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43175832G>C		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.796G>C	17.37:g.43175832G>C	ENSP00000468424:p.Glu266Gln					NMT1_uc002iia.2_RNA	p.E266Q	NM_021079	NP_066565	P30419	NMT1_HUMAN			7	814	+		Prostate(33;0.155)	266					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.796G>C	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189364	0.78789	.	.	ENSG00000136448	ENST00000258960	T	0.74632	-0.86	5.49	5.49	0.81192	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94267	0.7507	10	0.87932	D	0	-26.877	19.5755	0.95441	0.0:0.0:1.0:0.0	.	266	P30419	NMT1_HUMAN	Q	266	ENSP00000258960:E266Q	ENSP00000258960:E266Q	E	+	1	0	NMT1	40531358	1.000000	0.71417	0.970000	0.41538	0.199000	0.23934	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	GAG		0.522	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		4	127	0	0	0	0	4	127				
NDUFS7	374291	broad.mit.edu	37	19	1387822	1387822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1387822G>A	ENST00000233627.9	+	2	325	c.29G>A	c.(28-30)cGc>cAc	p.R10H	NDUFS7_ENST00000539480.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000313408.7_Missense_Mutation_p.R10H|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R10H|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	10					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CCTGGCCTGCGCGGCTTCCGG	0.711																																						uc002lse.3		NA																	0					0						c.(28-30)CGC>CAC		NADH-ubiquinone oxidoreductase Fe-S protein 7	NADH(DB00157)						42.0	41.0	41.0					19																	1387822		2203	4300	6503	SO:0001583	missense	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1387822G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.29G>A	19.37:g.1387822G>A	ENSP00000233627:p.Arg10His					NDUFS7_uc002lsf.2_Missense_Mutation_p.R74H|NDUFS7_uc002lsh.2_Missense_Mutation_p.R74H|NDUFS7_uc002lsg.2_5'UTR	p.R10H	NM_024407	NP_077718	O75251	NDUS7_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)	2	72	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	10					B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	c.29G>A	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479788	0.26511	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000435801;ENST00000450862;ENST00000414651	T;T;T;T;T	0.67345	-0.09;-0.07;-0.07;-0.09;-0.26	3.48	-1.2	0.09554	.	1.008970	0.07970	U	0.983899	T	0.47303	0.1438	N	0.22421	0.69	0.09310	N	1	D;D;P	0.57571	0.98;0.961;0.767	P;B;B	0.44597	0.454;0.276;0.13	T	0.38693	-0.9649	10	0.18710	T	0.47	.	4.0559	0.09816	0.0:0.3738:0.2176:0.4086	.	10;10;10	F5H5N1;B3KRI2;O75251	.;.;NDUS7_HUMAN	H	10	ENSP00000440348:R10H;ENSP00000233627:R10H;ENSP00000443273:R10H;ENSP00000364262:R10H;ENSP00000406630:R10H	ENSP00000233627:R10H	R	+	2	0	NDUFS7	1338822	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	0.242000	0.18087	-0.178000	0.10672	-0.521000	0.04368	CGC		0.711	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		9	41	0	0	0	0	9	41				
ATP8B3	148229	broad.mit.edu	37	19	1802615	1802615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1802615G>A	ENST00000310127.6	-	11	1172	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R312W|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R259W|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259W	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGCATCCGACTGTTAGGC	0.612																																						uc002ltw.2		NA																	0					0						c.(934-936)CGG>TGG		ATPase, class I, type 8B, member 3							91.0	97.0	95.0					19																	1802615		2104	4230	6334	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802615G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.934C>T	19.37:g.1802615G>A	ENSP00000311336:p.Arg312Trp					ATP8B3_uc002ltv.2_Missense_Mutation_p.R259W|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.R60W|ATP8B3_uc002ltz.1_Missense_Mutation_p.R259W	p.R312W	NM_138813	NP_620168	O60423	AT8B3_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)	11	1168	-		Hepatocellular(1079;0.137)	312			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.934C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	11.81	1.749060	0.30955	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	3.72	2.66	0.31614	ATPase, P-type, ATPase-associated domain (1);	0.481828	0.23175	U	0.051081	D	0.84969	0.5590	M	0.88105	2.93	0.27361	N	0.955977	D;D;D	0.89917	0.999;0.999;1.0	P;P;P	0.62885	0.857;0.877;0.908	T	0.77509	-0.2561	10	0.72032	D	0.01	.	9.8774	0.41211	0.0:0.0:0.6292:0.3707	.	259;312;259	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	W	312;312;259;259;259	ENSP00000311336:R312W;ENSP00000443574:R312W;ENSP00000437115:R259W;ENSP00000445204:R259W	ENSP00000311336:R312W	R	-	1	2	ATP8B3	1753615	0.320000	0.24616	0.683000	0.30040	0.010000	0.07245	0.702000	0.25631	0.764000	0.33197	-0.552000	0.04208	CGG		0.612	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		7	20	0	0	0	0	7	20				
FBN3	84467	broad.mit.edu	37	19	8152087	8152087	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:8152087C>T	ENST00000600128.1	-	54	7042	c.6628G>A	c.(6628-6630)Gag>Aag	p.E2210K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2210K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2210K			Q75N90	FBN3_HUMAN	fibrillin 3	2210	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCTGCACACTCGTCCACATCT	0.632																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6628-6630)GAG>AAG		fibrillin 3 precursor							79.0	68.0	72.0					19																	8152087		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152087C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6628G>A	19.37:g.8152087C>T	ENSP00000470498:p.Glu2210Lys					FBN3_uc002mje.2_Missense_Mutation_p.E49K	p.E2210K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			53	6649	-			2210			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6628G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984064	0.74474	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.98849	-5.18	3.71	3.71	0.42584	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.124673	0.52532	U	0.000069	D	0.99187	0.9718	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.70935	0.971;0.594	D	0.99126	1.0851	10	0.87932	D	0	.	15.8673	0.79074	0.0:1.0:0.0:0.0	.	2210;316	Q75N90;Q6ZNB8	FBN3_HUMAN;.	K	2210;316	ENSP00000270509:E2210K	ENSP00000270509:E2210K	E	-	1	0	FBN3	8058087	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.256000	0.78350	1.791000	0.52520	0.407000	0.27541	GAG		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		6	54	0	0	0	0	6	54				
SLC44A2	57153	broad.mit.edu	37	19	10742817	10742817	+	Silent	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:10742817C>T	ENST00000335757.5	+	10	1184	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	SLC44A2_ENST00000586078.1_Silent_p.L270L|SLC44A2_ENST00000407327.4_Silent_p.L268L			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	270					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATGGTGATTCTGGTGCTGGG	0.562																																						uc002mpf.2		NA																	0				ovary(1)	1						c.(808-810)CTG>TTG		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						241.0	205.0	217.0					19																	10742817		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742817C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.808C>T	19.37:g.10742817C>T						SLC44A2_uc002mpe.3_Silent_p.L268L|SLC44A2_uc002mpg.1_5'Flank	p.L270L	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		10	947	+			270			Helical; (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.808C>T	CCDS12245.1																																																																																				0.562	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			5	131	0	0	0	0	5	131				
LILRB2	10288	broad.mit.edu	37	19	54782209	54782209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:54782209G>C	ENST00000391749.4	-	7	1434	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	LILRB2_ENST00000391746.1_Nonsense_Mutation_p.S388*|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.S388*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.S272*|LILRB2_ENST00000391748.1_Nonsense_Mutation_p.S388*	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	388	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCGTGGGCTGAGGTCACAGG	0.592																																						uc002qfb.2		NA																	0				skin(1)	1						c.(1162-1164)TCA>TGA		leukocyte immunoglobulin-like receptor,							139.0	136.0	137.0					19																	54782209		2203	4300	6503	SO:0001587	stop_gained	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782209G>C	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1163C>G	19.37:g.54782209G>C	ENSP00000375629:p.Ser388*					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Nonsense_Mutation_p.S388*|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Nonsense_Mutation_p.S388*|LILRB2_uc010yet.1_Nonsense_Mutation_p.S272*|LILRB2_uc010yeu.1_RNA	p.S388*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1429	-	Ovarian(34;0.19)		388			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Nonsense_Mutation	SNP	ENST00000391749.4	37	c.1163C>G	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	39	7.627116	0.98396	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	.	.	.	1.88	-0.439	0.12264	.	1.581510	0.04370	U	0.358990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.2463	0.10674	0.389:0.0:0.611:0.0	.	.	.	.	X	388;388;388;388;272	.	ENSP00000319960:S388X	S	-	2	0	LILRB2	59474021	0.003000	0.15002	0.099000	0.21106	0.595000	0.36748	0.649000	0.24843	-0.014000	0.14175	0.442000	0.29010	TCA		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			4	158	0	0	0	0	4	158				
CHRND	1144	broad.mit.edu	37	2	233393036	233393036	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:233393036T>C	ENST00000258385.3	+	4	340	c.308T>C	c.(307-309)cTc>cCc	p.L103P	CHRND_ENST00000543200.1_Missense_Mutation_p.L88P|CHRND_ENST00000536614.1_Missense_Mutation_p.L103P|CHRND_ENST00000457943.2_Missense_Mutation_p.S13P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	103					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GTCCTGCGCCTCCCCCCGGAC	0.567																																						uc002vsw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(307-309)CTC>CCC		nicotinic acetylcholine receptor delta							119.0	115.0	116.0					2																	233393036		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393036T>C	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.308T>C	2.37:g.233393036T>C	ENSP00000258385:p.Leu103Pro					CHRND_uc010zmg.1_Missense_Mutation_p.L88P|CHRND_uc010fyc.2_Missense_Mutation_p.S13P|CHRND_uc010zmh.1_Missense_Mutation_p.S13P	p.L103P	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	4	312	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	103			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.308T>C	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.60|17.60	3.429316|3.429316	0.62844|0.62844	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614|ENST00000457943	D;D;D;D|D	0.82344|0.87966	-1.6;-1.6;-1.6;-1.6|-2.32	4.4|4.4	4.4|4.4	0.53042|0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.153019|.	0.45126|.	D|.	0.000381|.	D|D	0.88573|0.88573	0.6473|0.6473	M|M	0.90198|0.90198	3.095|3.095	0.27261|0.27261	N|N	0.958621|0.958621	D;D|P	0.89917|0.39624	1.0;1.0|0.681	D;D|B	0.79784|0.33799	0.988;0.993|0.17	D|D	0.84799|0.84799	0.0783|0.0783	10|8	0.87932|.	D|.	0|.	.|.	14.1132|14.1132	0.65137|0.65137	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	88;103|13	B4DT92;Q07001|B4E3W4	.;ACHD_HUMAN|.	P|P	88;88;103;103|13	ENSP00000404950:L88P;ENSP00000438380:L88P;ENSP00000258385:L103P;ENSP00000437740:L103P|ENSP00000391055:S13P	ENSP00000258385:L103P|.	L|S	+|+	2|1	0|0	CHRND|CHRND	233101280|233101280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	7.863000|7.863000	0.87023|0.87023	1.987000|1.987000	0.57996|0.57996	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.567	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			3	56	0	0	0	0	3	56				
DIP2A	23181	broad.mit.edu	37	21	47959793	47959793	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr21:47959793C>T	ENST00000417564.2	+	17	1946	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	DIP2A_ENST00000435722.3_Missense_Mutation_p.S642L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S599L|DIP2A_ENST00000318711.7_Missense_Mutation_p.S643L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S578L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S642L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S638L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	642					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTGCAGGGTCGATCTCCTCC	0.597																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(1924-1926)TCG>TTG		disco-interacting protein 2A isoform a							134.0	139.0	137.0					21																	47959793		2121	4226	6347	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959793C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1925C>T	21.37:g.47959793C>T	ENSP00000392066:p.Ser642Leu					DIP2A_uc011afy.1_Missense_Mutation_p.S578L|DIP2A_uc011afz.1_Missense_Mutation_p.S638L|DIP2A_uc002zjl.2_Missense_Mutation_p.S642L|DIP2A_uc002zjm.2_Missense_Mutation_p.S642L|DIP2A_uc010gql.2_Missense_Mutation_p.S599L|DIP2A_uc002zjn.2_Missense_Mutation_p.S642L|DIP2A_uc002zjp.1_Missense_Mutation_p.S387L|DIP2A_uc002zjq.2_Missense_Mutation_p.S34L	p.S642L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	17	2108	+	Breast(49;0.0933)		642					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1925C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082182	0.76528	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.64	4.64	0.57946	AMP-dependent synthetase/ligase (1);	0.080027	0.52532	D	0.000062	T	0.45597	0.1350	M	0.90650	3.135	0.80722	D	1	D;P;D;D;D;D;P	0.89917	0.999;0.801;1.0;0.999;0.999;1.0;0.902	D;B;D;D;D;D;P	0.83275	0.985;0.339;0.996;0.975;0.966;0.993;0.573	T	0.56426	-0.7981	10	0.52906	T	0.07	-19.1171	16.495	0.84237	0.0:1.0:0.0:0.0	.	643;578;599;578;642;642;642	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	L	638;578;643;599;642;599;642;642	ENSP00000383133:S638L;ENSP00000400528:S578L;ENSP00000323633:S643L;ENSP00000393434:S642L;ENSP00000430249:S599L;ENSP00000415089:S642L;ENSP00000392066:S642L	ENSP00000323633:S643L	S	+	2	0	DIP2A	46784221	1.000000	0.71417	0.944000	0.38274	0.445000	0.32107	7.615000	0.83006	2.121000	0.65114	0.655000	0.94253	TCG		0.597	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		33	72	0	0	0	0	33	72				
MTMR14	64419	broad.mit.edu	37	3	9726305	9726305	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:9726305G>C	ENST00000296003.4	+	11	1123	c.1001G>C	c.(1000-1002)tGg>tCg	p.W334S	MTMR14_ENST00000351233.5_Missense_Mutation_p.W334S|MTMR14_ENST00000420925.1_Missense_Mutation_p.W88S|MTMR14_ENST00000353332.5_Missense_Mutation_p.W334S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	334					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATCTCAGGCTGGGATCGGACC	0.577																																						uc003brz.2		NA																	0				skin(1)	1						c.(1000-1002)TGG>TCG		jumpy isoform 2							135.0	132.0	133.0					3																	9726305		1996	4171	6167	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9726305G>C	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1001G>C	3.37:g.9726305G>C	ENSP00000296003:p.Trp334Ser					MTMR14_uc003bsa.2_Missense_Mutation_p.W334S|MTMR14_uc003bsb.2_Missense_Mutation_p.W334S|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.W88S|MTMR14_uc003bsc.2_RNA	p.W334S	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			11	1125	+	Medulloblastoma(99;0.227)		334					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.1001G>C	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832475	0.91036	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.96520	0.9385	10	0.87932	D	0	-13.9824	19.8766	0.96875	0.0:0.0:1.0:0.0	.	88;334;334;334	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	S	334;88;334;334;334;106	ENSP00000323462:W334S;ENSP00000401993:W88S;ENSP00000296003:W334S;ENSP00000334070:W334S;ENSP00000388746:W106S	ENSP00000296003:W334S	W	+	2	0	MTMR14	9701305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	TGG		0.577	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	80	0	0	0	0	4	80				
XIRP1	165904	broad.mit.edu	37	3	39230859	39230859	+	Silent	SNP	T	T	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:39230859T>G	ENST00000340369.3	-	2	306	c.78A>C	c.(76-78)ccA>ccC	p.P26P	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.P26P	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	26	Interaction with VASP.|Poly-Pro.				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)		GGGCTGGGGGTGGAGGGAGGG	0.637																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(76-78)CCA>CCC		xin actin-binding repeat containing 1																																				SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230859T>G	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.78A>C	3.37:g.39230859T>G						XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron	p.P26P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	299	-			26			Interaction with VASP.|Poly-Pro.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.78A>C	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	22	0	0	0	0	5	22				
NKTR	4820	broad.mit.edu	37	3	42679772	42679772	+	Missense_Mutation	SNP	G	G	A	rs570080629	byFrequency	TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:42679772G>A	ENST00000232978.8	+	13	2764	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	859					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAAAAAAGAACTTTGAAA	0.373													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20371	0.0		0.0	False		,,,				2504	0.001					uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(2575-2577)AGA>AAA		natural killer-tumor recognition sequence							44.0	49.0	48.0					3																	42679772		2195	4298	6493	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679772G>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2576G>A	3.37:g.42679772G>A	ENSP00000232978:p.Arg859Lys					NKTR_uc003clm.1_Missense_Mutation_p.R606K|NKTR_uc003clp.2_Missense_Mutation_p.R606K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R749K|NKTR_uc003clr.1_Missense_Mutation_p.R606K|NKTR_uc003cls.2_Missense_Mutation_p.R559K	p.R859K	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2723	+			859						Missense_Mutation	SNP	ENST00000232978.8	37	c.2576G>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345830	0.11126	.	.	ENSG00000114857	ENST00000232978	T	0.11169	2.8	5.67	3.56	0.40772	.	0.683969	0.15644	N	0.251752	T	0.04679	0.0127	N	0.04880	-0.145	0.19575	N	0.999966	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.39961	-0.9588	10	0.22109	T	0.4	-12.7678	6.4475	0.21885	0.2129:0.0:0.6374:0.1496	.	559;859	Q6M1B8;P30414	.;NKTR_HUMAN	K	859	ENSP00000232978:R859K	ENSP00000232978:R859K	R	+	2	0	NKTR	42654776	0.006000	0.16342	0.826000	0.32828	0.708000	0.40852	0.387000	0.20718	1.404000	0.46819	0.655000	0.94253	AGA		0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	49	0	0	0	0	7	49				
STAB1	23166	broad.mit.edu	37	3	52544478	52544478	+	Silent	SNP	T	T	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:52544478T>C	ENST00000321725.6	+	25	2818	c.2742T>C	c.(2740-2742)ggT>ggC	p.G914G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	914	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGAGAGGTGGCTGCCACA	0.647																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(2740-2742)GGT>GGC		stabilin 1 precursor							67.0	59.0	62.0					3																	52544478		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544478T>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2742T>C	3.37:g.52544478T>C							p.G914G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	25	2816	+			914			Extracellular (Potential).|EGF-like 8.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2742T>C	CCDS33768.1																																																																																				0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		16	33	0	0	0	0	16	33				
PEX5L	51555	broad.mit.edu	37	3	179525565	179525565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:179525565C>T	ENST00000467460.1	-	14	1903	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PEX5L_ENST00000472994.1_Missense_Mutation_p.E466K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E501K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E417K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E333K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.E523K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E482K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E417K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E490K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	525					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACGGCTTCCTCGCTGCGGTCT	0.537																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1573-1575)GAG>AAG		peroxisomal biogenesis factor 5-like							128.0	134.0	132.0					3																	179525565		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525565C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1573G>A	3.37:g.179525565C>T	ENSP00000419975:p.Glu525Lys					PEX5L_uc011bqd.1_Missense_Mutation_p.E482K|PEX5L_uc011bqe.1_Missense_Mutation_p.E333K|PEX5L_uc011bqf.1_Missense_Mutation_p.E417K|PEX5L_uc003fkj.1_Missense_Mutation_p.E490K|PEX5L_uc010hxd.1_Missense_Mutation_p.E523K|PEX5L_uc011bqg.1_Missense_Mutation_p.E501K|PEX5L_uc011bqh.1_Missense_Mutation_p.E466K	p.E525K	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1703	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		525			TPR 4.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1573G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.123170	0.97305	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.992;0.999;0.999;1.0	D;D;P;P;P;P	0.78314	0.991;0.991;0.802;0.832;0.77;0.895	D	0.91566	0.5268	10	0.87932	D	0	-26.5919	20.6525	0.99598	0.0:1.0:0.0:0.0	.	466;501;417;523;490;525	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	525;523;490;523;417;333;482;413;466;417;501	ENSP00000419975:E525K;ENSP00000263962:E523K;ENSP00000418440:E490K;ENSP00000376420:E417K;ENSP00000418665:E333K;ENSP00000420555:E482K;ENSP00000418054:E466K;ENSP00000417270:E417K;ENSP00000419348:E501K	ENSP00000263962:E523K	E	-	1	0	PEX5L	181008259	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	GAG		0.537	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		28	227	0	0	0	0	28	227				
AMBN	258	broad.mit.edu	37	4	71467197	71467197	+	Silent	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr4:71467197A>G	ENST00000322937.6	+	6	460	c.357A>G	c.(355-357)caA>caG	p.Q119Q	AMBN_ENST00000449493.2_Silent_p.Q104Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	119					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGCCTCAACAGCCAGGAC	0.502											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hfl.2		NA																	0				ovary(3)|skin(1)	4						c.(355-357)CAA>CAG		ameloblastin precursor							147.0	147.0	147.0					4																	71467197		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467197A>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.357A>G	4.37:g.71467197A>G			OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130		p.Q119Q	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		6	432	+			119					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.357A>G	CCDS3543.1																																																																																				0.502	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		53	146	0	0	0	0	53	146				
GPX8	493869	broad.mit.edu	37	5	54456872	54456872	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:54456872T>G	ENST00000503787.1	+	2	330	c.255T>G	c.(253-255)aaT>aaG	p.N85K	GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_Missense_Mutation_p.N34K|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	85					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGACAGAAATTACTTAGGGC	0.463																																						uc003jpq.2		NA																	0					0						c.(253-255)AAT>AAG		glutathione peroxidase 8	Glutathione(DB00143)						69.0	66.0	67.0					5																	54456872		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456872T>G	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.255T>G	5.37:g.54456872T>G	ENSP00000423822:p.Asn85Lys					CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.N34K	p.N85K	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN			2	292	+			85						Missense_Mutation	SNP	ENST00000503787.1	37	c.255T>G	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006996	0.74932	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.03889	3.77;3.77	5.53	1.82	0.25136	Thioredoxin-like fold (2);	0.178125	0.64402	D	0.000011	T	0.19248	0.0462	M	0.84948	2.725	0.37422	D	0.913674	D;D	0.89917	0.983;1.0	P;D	0.69479	0.725;0.964	T	0.03130	-1.1069	10	0.87932	D	0	.	9.1644	0.37043	0.0:0.3572:0.0:0.6428	.	34;85	E7ETY7;Q8TED1	.;GPX8_HUMAN	K	85;34	ENSP00000423822:N85K;ENSP00000427466:N34K	ENSP00000423822:N85K	N	+	3	2	GPX8	54492629	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	0.096000	0.15147	0.399000	0.25367	0.533000	0.62120	AAT		0.463	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		13	35	0	0	0	0	13	35				
AP3B1	8546	broad.mit.edu	37	5	77590312	77590312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:77590312G>A	ENST00000255194.6	-	1	267	c.92C>T	c.(91-93)tCg>tTg	p.S31L	AP3B1_ENST00000519295.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	31					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAAGGCCCCCGAGGGGGAAAT	0.607									Hermansky-Pudlak syndrome																													uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.(91-93)TCG>TTG		adaptor-related protein complex 3, beta 1							55.0	64.0	61.0					5																	77590312		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77590312G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.92C>T	5.37:g.77590312G>A	ENSP00000255194:p.Ser31Leu						p.S31L	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	1	217	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	31					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.92C>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843551	0.71488	.	.	ENSG00000132842	ENST00000255194;ENST00000535760;ENST00000535667	T	0.57907	0.37	5.23	5.23	0.72850	.	0.973567	0.08458	N	0.942816	T	0.44008	0.1273	N	0.24115	0.695	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.11941	-1.0567	10	0.52906	T	0.07	-0.4888	14.2878	0.66256	0.0:0.0:1.0:0.0	.	31	O00203	AP3B1_HUMAN	L	31	ENSP00000255194:S31L	ENSP00000255194:S31L	S	-	2	0	AP3B1	77626068	0.999000	0.42202	0.988000	0.46212	0.993000	0.82548	4.347000	0.59373	2.440000	0.82611	0.561000	0.74099	TCG		0.607	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			12	73	0	0	0	0	12	73				
BRD8	10902	broad.mit.edu	37	5	137500599	137500599	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137500599G>A	ENST00000254900.5	-	12	1906	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	BRD8_ENST00000402931.1_Missense_Mutation_p.P512L|BRD8_ENST00000455658.2_Missense_Mutation_p.P471L|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000230901.5_Missense_Mutation_p.P585L|BRD8_ENST00000411594.2_Missense_Mutation_p.P515L	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	512					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTTCTGCAGGTTCCACCTT	0.502																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(1534-1536)CCT>CTT		bromodomain containing 8 isoform 2							192.0	169.0	177.0					5																	137500599		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137500599G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1535C>T	5.37:g.137500599G>A	ENSP00000254900:p.Pro512Leu					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.P291L|BRD8_uc003lcg.2_Missense_Mutation_p.P585L|BRD8_uc003lci.2_Missense_Mutation_p.P515L|BRD8_uc003lch.2_Missense_Mutation_p.P406L|BRD8_uc011cym.1_Missense_Mutation_p.P496L|BRD8_uc010jer.1_Missense_Mutation_p.P481L|BRD8_uc011cyn.1_Missense_Mutation_p.P471L	p.P512L	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		12	1590	-			512					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1535C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115178	0.37339	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	T;T;T;T;T;T;T	0.34859	1.73;1.37;1.35;1.5;1.47;1.34;1.46	5.52	5.52	0.82312	.	0.300697	0.36338	N	0.002649	T	0.25791	0.0628	N	0.24115	0.695	0.49798	D	0.999824	B;B;B;B;B;B;B;B	0.13594	0.008;0.005;0.004;0.0;0.001;0.001;0.0;0.001	B;B;B;B;B;B;B;B	0.12837	0.008;0.002;0.004;0.0;0.004;0.003;0.001;0.002	T	0.03587	-1.1022	10	0.27082	T	0.32	-2.1009	13.8865	0.63712	0.0745:0.0:0.9255:0.0	.	471;496;291;585;515;406;585;512	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	L	512;541;510;585;512;515;406;471	ENSP00000254900:P512L;ENSP00000398067:P541L;ENSP00000398873:P510L;ENSP00000230901:P585L;ENSP00000384845:P512L;ENSP00000394330:P515L;ENSP00000408396:P471L	ENSP00000230901:P585L	P	-	2	0	BRD8	137528498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.223000	0.42936	2.890000	0.99128	0.585000	0.79938	CCT		0.502	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		6	122	0	0	0	0	6	122				
FAM53C	51307	broad.mit.edu	37	5	137680937	137680937	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137680937G>A	ENST00000239906.5	+	4	988	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FAM53C_ENST00000434981.2_Missense_Mutation_p.R187K|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	187										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCTCACAGACCCTACAGC	0.642																																						uc003lcv.2		NA																	0				ovary(1)	1						c.(559-561)AGA>AAA		hypothetical protein LOC51307							162.0	175.0	170.0					5																	137680937		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137680937G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.560G>A	5.37:g.137680937G>A	ENSP00000239906:p.Arg187Lys					FAM53C_uc003lcw.2_Missense_Mutation_p.R187K|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.R187K	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1030	+			187					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.560G>A	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138839	0.21123	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.41065	1.01;1.01	6.08	6.08	0.98989	.	0.462621	0.24975	N	0.034111	T	0.33818	0.0876	L	0.40543	1.245	0.80722	D	1	P	0.34864	0.473	B	0.25506	0.061	T	0.06534	-1.0821	9	.	.	.	-5.2904	17.5802	0.87965	0.0:0.0:1.0:0.0	.	187	Q9NYF3	FA53C_HUMAN	K	187	ENSP00000403705:R187K;ENSP00000239906:R187K	.	R	+	2	0	FAM53C	137708836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.362000	0.52314	2.894000	0.99253	0.655000	0.94253	AGA		0.642	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		43	213	0	0	0	0	43	213				
NSD1	64324	broad.mit.edu	37	5	176687121	176687121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:176687121C>T	ENST00000439151.2	+	14	5143	c.5098C>T	c.(5098-5100)Cga>Tga	p.R1700*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1597*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1700					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCGGGGCTGCCGAAATCATGA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CM074953	NSD1	M		c.(5098-5100)CGA>TGA		nuclear receptor binding SET domain protein 1							77.0	72.0	74.0					5																	176687121		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687121C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5098C>T	5.37:g.176687121C>T	ENSP00000395929:p.Arg1700*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R1431*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1597*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1348*	p.R1700*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5236	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1700					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5098C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	44	10.672971	0.99447	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	4.6	0.57074	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2749	0.66173	0.2826:0.7174:0.0:0.0	.	.	.	.	X	1431;1700;1431;1597	.	ENSP00000343209:R1431X	R	+	1	2	NSD1	176619727	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.842000	0.39250	2.752000	0.94435	0.467000	0.42956	CGA		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		5	59	0	0	0	0	5	59				
HIST1H2AB	8335	broad.mit.edu	37	6	26033429	26033429	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:26033429C>G	ENST00000259791.2	-	1	367	c.368G>C	c.(367-369)aGc>aCc	p.S123T	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTATGATGGCTCTCAGTTTT	0.478																																						uc003nft.1		NA																	0					0						c.(367-369)AGC>ACC		histone cluster 1, H2ab							59.0	61.0	60.0					6																	26033429		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033429C>G	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.368G>C	6.37:g.26033429C>G	ENSP00000259791:p.Ser123Thr					HIST1H3B_uc003nfs.1_5'Flank	p.S123T	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	368	-			123					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.368G>C	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.561094	0.27827	.	.	ENSG00000137259	ENST00000259791	T	0.42513	0.97	5.35	5.35	0.76521	Histone-fold (2);Histone H2A (1);	0.000000	0.42053	U	0.000776	T	0.21145	0.0509	.	.	.	0.31248	N	0.694419	B	0.02656	0.0	B	0.01281	0.0	T	0.04140	-1.0974	9	0.38643	T	0.18	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	123	P04908	H2A1B_HUMAN	T	123	ENSP00000259791:S123T	ENSP00000259791:S123T	S	-	2	0	HIST1H2AB	26141408	.	.	1.000000	0.80357	0.486000	0.33341	.	.	2.648000	0.89879	0.561000	0.74099	AGC		0.478	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		9	68	0	0	0	0	9	68				
ZNF76	7629	broad.mit.edu	37	6	35262305	35262305	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:35262305G>A	ENST00000373953.3	+	13	1833	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	ZNF76_ENST00000440666.2_Missense_Mutation_p.A497T|ZNF76_ENST00000339411.5_Missense_Mutation_p.A468T	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	523					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCAACAGGTGGCACTGTTGGC	0.517											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1		NA																	0					0						c.(1567-1569)GCA>ACA		zinc finger protein 76 (expressed in testis)							183.0	142.0	156.0					6																	35262305		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35262305G>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1567G>A	6.37:g.35262305G>A	ENSP00000363064:p.Ala523Thr		OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	854	ZNF76_uc003okj.1_Missense_Mutation_p.A468T	p.A523T	NM_003427	NP_003418	P36508	ZNF76_HUMAN			13	1772	+			523					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1567G>A	CCDS4801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092193|2.092193	0.36952|0.36952	.|.	.|.	ENSG00000065029|ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411|ENST00000498555	T;T;T|.	0.08807|.	3.05;3.07;3.07|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.44688|.	D|.	0.000428|.	T|.	0.30417|.	0.0764|.	N|N	0.20881|0.20881	0.62|0.62	0.53005|0.53005	D|D	0.999966|0.999966	B;D|.	0.67145|.	0.071;0.996|.	B;P|.	0.60012|.	0.085;0.867|.	T|.	0.07366|.	-1.0776|.	10|.	0.02654|.	T|.	1|.	.|.	10.9288|10.9288	0.47205|0.47205	0.0848:0.0:0.9152:0.0|0.0848:0.0:0.9152:0.0	.|.	468;523|.	P36508-2;P36508|.	.;ZNF76_HUMAN|.	T|X	523;497;468|55	ENSP00000363064:A523T;ENSP00000392243:A497T;ENSP00000344097:A468T|.	ENSP00000344097:A468T|.	A|W	+|+	1|3	0|0	ZNF76|ZNF76	35370283|35370283	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.946000|0.946000	0.59487|0.59487	4.047000|4.047000	0.57383|0.57383	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.517	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		6	56	0	0	0	0	6	56				
PRPH2	5961	broad.mit.edu	37	6	42689524	42689524	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:42689524G>A	ENST00000230381.5	-	1	788	c.549C>T	c.(547-549)cgC>cgT	p.R183R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGTCCAGGTAGCGATTGCTGA	0.493																																						uc003osk.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(547-549)CGC>CGT		peripherin 2							151.0	144.0	147.0					6																	42689524		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689524G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.549C>T	6.37:g.42689524G>A							p.R183R	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	835	-	Colorectal(47;0.196)		183			Lumenal (Potential).		Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.549C>T	CCDS4871.1																																																																																				0.493	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		18	141	0	0	0	0	18	141				
TJAP1	93643	broad.mit.edu	37	6	43472753	43472753	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:43472753G>A	ENST00000372445.5	+	11	1210	c.834G>A	c.(832-834)ccG>ccA	p.P278P	TJAP1_ENST00000436109.2_Silent_p.P268P|TJAP1_ENST00000372444.2_Silent_p.P268P|TJAP1_ENST00000372452.1_Silent_p.P268P|TJAP1_ENST00000372449.1_Silent_p.P278P|TJAP1_ENST00000438588.2_Silent_p.P278P|TJAP1_ENST00000259751.1_Silent_p.P268P|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	278	Pro-rich.				Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGTCCCCCGGCCCCTGGCA	0.657																																						uc003ovd.2		NA																	0					0						c.(832-834)CCG>CCA		tight junction associated protein 1 isoform a							33.0	39.0	37.0					6																	43472753		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472753G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.834G>A	6.37:g.43472753G>A						TJAP1_uc003ovf.2_Silent_p.P268P|TJAP1_uc003ove.2_Silent_p.P268P|TJAP1_uc003ovc.2_Silent_p.P268P|TJAP1_uc010jyp.2_Silent_p.P237P|TJAP1_uc011dvh.1_Silent_p.P268P|TJAP1_uc003ovg.2_Silent_p.P144P|TJAP1_uc011dvi.1_Silent_p.P278P|TJAP1_uc011dvj.1_Silent_p.P78P|TJAP1_uc003ovi.2_Silent_p.P144P	p.P278P	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1210	+	all_lung(25;0.00536)		278			Pro-rich.		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.834G>A	CCDS55004.1																																																																																				0.657	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		9	52	0	0	0	0	9	52				
ECT2L	345930	broad.mit.edu	37	6	139167812	139167812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:139167812G>A	ENST00000423192.1	+	7	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E301K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E232K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	301							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTGCGTATGAGGTAGAGTA	0.398			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(901-903)GAG>AAG		epithelial cell transforming sequence 2							222.0	213.0	216.0					6																	139167812		1941	4137	6078	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139167812G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.901G>A	6.37:g.139167812G>A	ENSP00000387388:p.Glu301Lys					ECT2L_uc011edq.1_Missense_Mutation_p.E232K	p.E301K	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			6	1004	+			301					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.901G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097001	0.76870	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.80304	-0.23;-0.23;-1.36	5.53	5.53	0.82687	.	1.349620	0.06369	U	0.713105	D	0.89181	0.6642	M	0.74258	2.255	0.38563	D	0.949759	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.82502	-0.0425	10	0.87932	D	0	-7.8699	16.7274	0.85426	0.0:0.0:1.0:0.0	.	232;301	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	301;301;232	ENSP00000387388:E301K;ENSP00000356655:E301K;ENSP00000442307:E232K	ENSP00000356655:E301K	E	+	1	0	ECT2L	139209505	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	5.807000	0.69157	2.753000	0.94483	0.585000	0.79938	GAG		0.398	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		7	273	0	0	0	0	7	273				
AKAP12	9590	broad.mit.edu	37	6	151670504	151670504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:151670504G>C	ENST00000253332.1	+	3	1167	c.978G>C	c.(976-978)aaG>aaC	p.K326N	AKAP12_ENST00000359755.5_Missense_Mutation_p.K221N|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000402676.2_Missense_Mutation_p.K326N|AKAP12_ENST00000354675.6_Missense_Mutation_p.K228N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	326	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTTCAGAGAAGAAAAAGGAAC	0.507																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(976-978)AAG>AAC		A kinase (PRKA) anchor protein 12 isoform 1							50.0	64.0	59.0					6																	151670504		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670504G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.978G>C	6.37:g.151670504G>C	ENSP00000253332:p.Lys326Asn					AKAP12_uc003qoe.2_Missense_Mutation_p.K326N|AKAP12_uc003qof.2_Missense_Mutation_p.K228N|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.K221N	p.K326N	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1218	+		Ovarian(120;0.125)	326			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.978G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274171	0.59649	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.11930	2.73;2.73;2.74;2.74	4.99	4.13	0.48395	.	0.000000	0.41097	D	0.000948	T	0.17662	0.0424	M	0.73598	2.24	0.39588	D	0.969544	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.982;0.96	T	0.07214	-1.0784	10	0.31617	T	0.26	.	4.2193	0.10549	0.2182:0.0:0.6041:0.1777	.	221;228;326	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	326;326;228;221	ENSP00000384537:K326N;ENSP00000253332:K326N;ENSP00000346702:K228N;ENSP00000352794:K221N	ENSP00000253332:K326N	K	+	3	2	AKAP12	151712197	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	3.547000	0.53663	1.259000	0.44117	-0.123000	0.14984	AAG		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			10	45	0	0	0	0	10	45				
CYTH3	9265	broad.mit.edu	37	7	6226735	6226735	+	Silent	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr7:6226735C>T	ENST00000350796.3	-	4	331	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	65					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GTTTGTTCCTCTGAGTCGTTT	0.443																																						uc003spt.2		NA																	0					0						c.(193-195)CAG>CAA		cytohesin 3							274.0	252.0	260.0					7																	6226735		2203	4300	6503	SO:0001819	synonymous_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6226735C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.195G>A	7.37:g.6226735C>T							p.Q65Q	NM_004227	NP_004218	O43739	CYH3_HUMAN			4	299	-			65					A4D2N8	Silent	SNP	ENST00000350796.3	37	c.195G>A	CCDS5346.1																																																																																				0.443	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		28	156	0	0	0	0	28	156				
LINGO2	158038	broad.mit.edu	37	9	27949880	27949880	+	Missense_Mutation	SNP	C	C	A	rs148104069		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:27949880C>A	ENST00000379992.2	-	6	1239	c.790G>T	c.(790-792)Gta>Tta	p.V264L	LINGO2_ENST00000308675.3_Missense_Mutation_p.V264L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	264						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGAAGGGTACAGTAGACAGA	0.463																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(790-792)GTA>TTA		leucine rich repeat and Ig domain containing 2							266.0	241.0	249.0					9																	27949880		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949880C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.790G>T	9.37:g.27949880C>A	ENSP00000369328:p.Val264Leu					LINGO2_uc010mjf.1_Missense_Mutation_p.V264L|LINGO2_uc003zqv.1_Missense_Mutation_p.V264L	p.V264L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	984	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	264			LRR 9.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.790G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.139919	0.06669	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.78003	-1.14;-1.14	5.96	2.09	0.27110	.	0.319538	0.34460	N	0.003944	T	0.59059	0.2166	N	0.11364	0.135	0.21553	N	0.999645	B	0.19331	0.035	B	0.31245	0.126	T	0.48019	-0.9071	9	.	.	.	.	10.4739	0.44652	0.0:0.6894:0.0:0.3106	.	264	Q7L985	LIGO2_HUMAN	L	264	ENSP00000369328:V264L;ENSP00000310126:V264L	.	V	-	1	0	LINGO2	27939880	0.522000	0.26266	0.019000	0.16419	0.293000	0.27360	1.206000	0.32321	0.863000	0.35553	0.655000	0.94253	GTA		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		26	124	1	0	1.74e-06	1.47e-05	26	124				
GOLM1	51280	broad.mit.edu	37	9	88650358	88650358	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:88650358C>G	ENST00000388712.3	-	8	1108	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.E314Q	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	314					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCCTCCATCTCTGGATTTTCC	0.642											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aol.2		NA																	0					0						c.(940-942)GAG>CAG		golgi membrane protein 1							96.0	106.0	102.0					9																	88650358		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650358C>G	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.940G>C	9.37:g.88650358C>G	ENSP00000373364:p.Glu314Gln		OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_uc004aom.2_Missense_Mutation_p.E314Q	p.E314Q	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN			8	1138	-			314			Lumenal (Potential).		Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.940G>C	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976579	0.53720	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.44482	0.92;0.92	4.54	3.64	0.41730	.	0.922779	0.09173	N	0.838503	T	0.34832	0.0911	L	0.36672	1.1	0.09310	N	1	P	0.48503	0.911	P	0.45232	0.474	T	0.05517	-1.0880	10	0.13470	T	0.59	-6.887	8.7428	0.34567	0.0:0.896:0.0:0.104	.	314	Q8NBJ4	GOLM1_HUMAN	Q	314	ENSP00000373364:E314Q;ENSP00000373363:E314Q	ENSP00000373363:E314Q	E	-	1	0	GOLM1	87840178	0.023000	0.18921	0.017000	0.16124	0.072000	0.16883	1.110000	0.31147	1.273000	0.44346	0.462000	0.41574	GAG		0.642	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		24	131	0	0	0	0	24	131				
ASTN2	23245	broad.mit.edu	37	9	119382714	119382714	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:119382714C>G	ENST00000313400.4	-	18	3181	c.3081G>C	c.(3079-3081)aaG>aaC	p.K1027N	ASTN2_ENST00000373996.3_Missense_Mutation_p.K1023N|ASTN2_ENST00000288520.5_Missense_Mutation_p.K128N|ASTN2_ENST00000341734.4_Missense_Mutation_p.K79N|ASTN2_ENST00000361209.2_Missense_Mutation_p.K976N|ASTN2_ENST00000358637.4_Missense_Mutation_p.K79N|ASTN2_ENST00000361477.3_Missense_Mutation_p.K79N			O75129	ASTN2_HUMAN	astrotactin 2	1027					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCAGTGCACTCTTGAAGGCCT	0.507																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3079-3081)AAG>AAC		astrotactin 2 isoform c							159.0	145.0	150.0					9																	119382714		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119382714C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3081G>C	9.37:g.119382714C>G	ENSP00000314038:p.Lys1027Asn					ASTN2_uc004bjr.1_Missense_Mutation_p.K1023N|ASTN2_uc004bjt.1_Missense_Mutation_p.K976N|ASTN2_uc004bjp.1_Missense_Mutation_p.K120N|ASTN2_uc004bjq.1_Missense_Mutation_p.K79N|ASTN2_uc011lxr.1_Missense_Mutation_p.K79N|ASTN2_uc011lxs.1_Missense_Mutation_p.K79N|ASTN2_uc011lxt.1_Missense_Mutation_p.K79N|ASTN2_uc004bjv.1_Missense_Mutation_p.K79N	p.K1027N	NM_198187	NP_937830	O75129	ASTN2_HUMAN			18	3182	-			1027			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3081G>C		.	.	.	.	.	.	.	.	.	.	C	15.92	2.975803	0.53720	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	6.08	5.01	0.66863	Membrane attack complex component/perforin (MACPF) domain (1);	0.110606	0.64402	D	0.000011	T	0.34890	0.0913	L	0.40543	1.245	0.41169	D	0.986154	B;B;P;P;B;P;B;B	0.41673	0.13;0.13;0.759;0.589;0.115;0.746;0.13;0.447	B;B;B;B;B;P;B;B	0.45406	0.077;0.077;0.19;0.288;0.086;0.479;0.077;0.196	T	0.02263	-1.1186	9	.	.	.	-17.2658	12.2054	0.54348	0.0:0.8213:0.0:0.1787	.	79;79;750;976;1027;1023;79;128	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	N	1027;1023;128;79;750;976;79;79	ENSP00000314038:K1027N;ENSP00000363108:K1023N;ENSP00000288520:K128N;ENSP00000339925:K79N;ENSP00000363098:K750N;ENSP00000354504:K976N;ENSP00000355116:K79N;ENSP00000351460:K79N	.	K	-	3	2	ASTN2	118422535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.236000	0.32683	2.894000	0.99253	0.655000	0.94253	AAG		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		34	150	0	0	0	0	34	150				
BCOR	54880	broad.mit.edu	37	X	39923017	39923017	+	Missense_Mutation	SNP	G	G	A	rs147934033		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:39923017G>A	ENST00000378444.4	-	8	3919	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	BCOR_ENST00000397354.3_Missense_Mutation_p.R1197W|BCOR_ENST00000342274.4_Missense_Mutation_p.R1197W|BCOR_ENST00000378455.4_Missense_Mutation_p.R1179W|BCOR_ENST00000378463.1_Missense_Mutation_p.R74W	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1231					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTTTGCCGGCCAGGTTTG	0.547			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3691-3693)CGG>TGG		BCL-6 interacting corepressor isoform c		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3833		0,0,1631,571	116.0	98.0	105.0		3589,3535,3691,3589	5.5	1.0	X	dbSNP_134	105	1,6727		0,1,2427,1872	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	101,101,101,101	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1197/1722,1179/1704,1231/1756,1197/1722	39923017	1,10560	2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923017G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3691C>T	X.37:g.39923017G>A	ENSP00000367705:p.Arg1231Trp					BCOR_uc004dep.3_Missense_Mutation_p.R1197W|BCOR_uc004deo.3_Missense_Mutation_p.R1179W|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Missense_Mutation_p.R1197W	p.R1231W	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			8	3983	-			1231					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3691C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229002	0.79688	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	5.52	5.52	0.82312	.	.	.	.	.	T	0.27967	0.0689	L	0.27053	0.805	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.99	T	0.04427	-1.0952	9	0.87932	D	0	-17.9422	18.5259	0.90973	0.0:0.0:1.0:0.0	.	1179;1231;1197	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	W	101;74;1179;1197;1231;1197;1197	ENSP00000408006:R101W;ENSP00000367724:R74W;ENSP00000367716:R1179W;ENSP00000380512:R1197W;ENSP00000367705:R1231W;ENSP00000345923:R1197W;ENSP00000384485:R1197W	ENSP00000345923:R1197W	R	-	1	2	BCOR	39807961	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.514000	0.67043	2.317000	0.78254	0.529000	0.55759	CGG		0.547	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	83	0	0	0	0	4	83				
AWAT1	158833	broad.mit.edu	37	X	69458123	69458123	+	Silent	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:69458123C>T	ENST00000374521.3	+	5	563	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	174					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGCAACCTCGTGGGCATTG	0.572																																						uc004dxy.2		NA																	0				ovary(3)	3						c.(520-522)CTC>CTT		wax synthase 1							116.0	88.0	97.0					X																	69458123		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458123C>T	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.522C>T	X.37:g.69458123C>T							p.L174L	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			5	563	+			174					Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.522C>T	CCDS35321.1																																																																																				0.572	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		10	31	0	0	0	0	10	31				
SPANXD	64648	broad.mit.edu	37	X	140786496	140786496	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:140786496C>T	ENST00000370515.3	-	1	400	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTTACCATCTCGTTGGCCTCG	0.517																																						uc004fbq.2		NA																	0					0						c.(67-69)GAG>AAG		SPANX family, member E							3.0	3.0	3.0					X																	140786496		1397	2773	4170	SO:0001583	missense	171489					cytoplasm|nucleus		g.chrX:140786496C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.67G>A	X.37:g.140786496C>T	ENSP00000359546:p.Glu23Lys						p.E23K	NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN			1	160	-	Acute lymphoblastic leukemia(192;7.65e-05)		23					Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.67G>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246435	0.10130	.	.	ENSG00000196406	ENST00000370515	T	0.09255	3.0	.	.	.	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.35201	-0.9798	6	0.45353	T	0.12	.	.	.	.	.	23	Q9BXN6	SPNXD_HUMAN	K	23	ENSP00000359546:E23K	ENSP00000359546:E23K	E	-	1	0	SPANXD	140614162	0.032000	0.19561	0.004000	0.12327	0.004000	0.04260	0.650000	0.24858	0.080000	0.16959	0.081000	0.15443	GAG		0.517	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			26	43	0	0	0	0	26	43				
UEVLD	55293	broad.mit.edu	37	11	18557990	18557992	+	In_Frame_Del	DEL	CTT	CTT	-	rs201487826		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:18557990_18557992delCTT	ENST00000396197.3	-	10	1113_1115	c.1085_1087delAAG	c.(1084-1089)gaagta>gta	p.E362del	UEVLD_ENST00000543987.1_In_Frame_Del_p.E362del|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_In_Frame_Del_p.E324del|UEVLD_ENST00000320750.6_In_Frame_Del_p.E340del|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_In_Frame_Del_p.E340del	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGACTCACTACTTCTTCTTGGCC	0.374																																						uc001mot.2		NA																	0					0						c.(1084-1089)GAAGTA>GTA		ubiquitin-conjugating enzyme E2-like isoform a			,	3,4261		0,3,2129					,	-2.6	0.0			160	2,8252		0,2,4125	no	coding,coding	UEVLD	NM_018314.3,NM_001040697.1	,	0,5,6254	A1A1,A1R,RR		0.0242,0.0704,0.0399	,	,		5,12513				SO:0001651	inframe_deletion	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18557990_18557992delCTT	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1085_1087delAAG	11.37:g.18557996_18557998delCTT	ENSP00000379500:p.Glu362del					UEVLD_uc001mou.2_In_Frame_Del_p.E362del|UEVLD_uc010rde.1_In_Frame_Del_p.E232del|UEVLD_uc010rdf.1_In_Frame_Del_p.E340del|UEVLD_uc010rdg.1_In_Frame_Del_p.E232del|UEVLD_uc001mov.2_In_Frame_Del_p.E340del	p.E362del	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			10	1165_1167	-			362						In_Frame_Del	DEL	ENST00000396197.3	37	c.1085_1087delAAG	CCDS41624.1																																																																																				0.374	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		20	76	NA	NA	NA	NA	20	76	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						uc001wjr.2		NA																	0				ovary(1)	1						c.(502-504)TGTfs		interleukin 25 isoform 1 precursor																																				SO:0001589	frameshift_variant	64806				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_uc001wjq.2_Frame_Shift_Del_p.C152fs|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	p.C168fs	NM_022789	NP_073626	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	812_813	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			7	119	NA	NA	NA	NA	7	119	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166170610	166170610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:166170610delG	ENST00000375437.2	+	10	1665	c.1375delG	c.(1375-1377)gaafs	p.E459fs	SCN2A_ENST00000357398.3_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.E459fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	459					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAACAAGAAGAAGCTCAGGT	0.408																																						uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(1375-1377)GAAfs		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						55.0	53.0	53.0					2																	166170610		2202	4299	6501	SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166170610delG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1375delG	2.37:g.166170610delG	ENSP00000364586:p.Glu459fs					SCN2A_uc002udd.2_Frame_Shift_Del_p.E459fs|SCN2A_uc002ude.2_Frame_Shift_Del_p.E459fs	p.E459fs	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			10	1665	+			459					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	ENST00000375437.2	37	c.1375delG	CCDS33314.1																																																																																				0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	31	NA	NA	NA	NA	7	31	---	---	---	---
