#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POTEH	23784	broad.mit.edu	37	22	16287548	16287548	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:16287548C>T	ENST00000343518.6	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	113										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(337-339)gGc>gAc		POTE ankyrin domain family, member H							97.0	110.0	106.0					22																	16287548		2057	3903	5960	SO:0001583	missense	23784							g.chr22:16287548C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.338G>A	22.37:g.16287548C>T	ENSP00000340610:p.Gly113Asp						p.G113D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	389	-			113					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.338G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.666	0.123749	0.08931	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.35605	1.3	.	.	.	.	.	.	.	.	T	0.28699	0.0711	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.25572	-1.0128	7	0.25106	T	0.35	.	.	.	.	.	113	Q6S545	POTEH_HUMAN	D	76;113;113	ENSP00000340610:G113D	ENSP00000340610:G113D	G	-	2	0	POTEH	14667548	0.000000	0.05858	0.018000	0.16275	0.019000	0.09904	-3.312000	0.00516	0.269000	0.21961	0.274000	0.19336	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		5	186	0	0	0	1	0	5	186				
USH2A	7399	broad.mit.edu	37	1	216260090	216260090	+	Missense_Mutation	SNP	C	C	T	rs372436408		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:216260090C>T	ENST00000307340.3	-	24	5344	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1653Q|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1653	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATAACTTCGCGGGAGCCC	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4957-4959)cGa>cAa		Usher syndrome 2A (autosomal recessive, mild)		T	GLN/ARG	0,4406		0,0,2203	60.0	56.0	57.0		4958	-10.4	0.0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1653/5203	216260090	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216260090C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4958G>A	1.37:g.216260090C>T	ENSP00000305941:p.Arg1653Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R1653Q|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.R1653Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	24	5344	-			1653			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4958G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.431385	0.01117	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77098	-1.07;-1.07	5.21	-10.4	0.00318	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.753140	0.03520	N	0.220810	T	0.42810	0.1219	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40079	-0.9582	10	0.09843	T	0.71	.	4.1347	0.10166	0.0764:0.2868:0.3096:0.3272	.	1653	O75445	USH2A_HUMAN	Q	1653	ENSP00000305941:R1653Q;ENSP00000355910:R1653Q	ENSP00000305941:R1653Q	R	-	2	0	USH2A	214326713	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.789000	0.04609	-2.889000	0.00316	-3.955000	0.00015	CGA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	15	0	0	0	1	0	9	15				
LCT	3938	broad.mit.edu	37	2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:136569967C>T	ENST00000264162.2	-	7	2277	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	756	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G756D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TATGGGCATGCCATTCCCGGC	0.438																																						ENST00000264162.2																			1	Substitution - Missense(1)	p.G756D(1)	lung(1)	breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2266-2268)gGc>gAc		lactase							98.0	100.0	99.0					2																	136569967		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569967C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2267G>A	2.37:g.136569967C>T	ENSP00000264162:p.Gly756Asp						p.G756D	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2277	-			756			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2267G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908857	0.92107	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	D	0.90620	-2.7	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	-28.7843	19.76	0.96311	0.0:1.0:0.0:0.0	.	756	P09848	LPH_HUMAN	D	756;188	ENSP00000264162:G756D	ENSP00000264162:G756D	G	-	2	0	LCT	136286437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.793000	0.85851	2.666000	0.90696	0.655000	0.94253	GGC		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	59	0	0	0	1	0	5	59				
GTF3C5	9328	broad.mit.edu	37	9	135926319	135926319	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr9:135926319T>C	ENST00000372097.5	+	4	1045	c.722T>C	c.(721-723)gTc>gCc	p.V241A	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.V241A|GTF3C5_ENST00000372099.6_Missense_Mutation_p.V232A|GTF3C5_ENST00000372095.5_Missense_Mutation_p.V116A	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	241					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGGAGGAGAGTCTGCACTAAC	0.642																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(721-723)gTc>gCc		general transcription factor IIIC, polypeptide 5, 63kDa							38.0	32.0	34.0					9																	135926319		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135926319T>C	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.722T>C	9.37:g.135926319T>C	ENSP00000361169:p.Val241Ala					GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.V232A|GTF3C5_ENST00000372095.5_Missense_Mutation_p.V116A|GTF3C5_ENST00000372108.5_Missense_Mutation_p.V241A	p.V241A	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	4	1045	+			241					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.722T>C	CCDS6958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.04|11.04	1.523256|1.523256	0.27299|0.27299	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000434175|ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697	.|T;T;T	.|0.46063	.|0.88;0.89;0.89	5.21|5.21	4.08|4.08	0.47627|0.47627	.|.	.|0.615435	.|0.16566	.|N	.|0.208830	T|T	0.29093|0.29093	0.0723|0.0723	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.24092	.|0.097;0.004;0.01	.|B;B;B	.|0.20184	.|0.028;0.009;0.015	T|T	0.19582|0.19582	-1.0301|-1.0301	5|10	.|0.18710	.|T	.|0.47	-2.9775|-2.9775	7.5846|7.5846	0.27985|0.27985	0.0:0.1164:0.0:0.8836|0.0:0.1164:0.0:0.8836	.|.	.|116;241;241	.|B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.|.;.;TF3C5_HUMAN	P|A	13|241;194;232;116;91;241;116	.|ENSP00000361169:V241A;ENSP00000361171:V232A;ENSP00000361180:V241A	.|ENSP00000361161:V91A	S|V	+|+	1|2	0|0	GTF3C5|GTF3C5	134916140|134916140	0.031000|0.031000	0.19500|0.19500	0.042000|0.042000	0.18584|0.18584	0.636000|0.636000	0.38137|0.38137	2.219000|2.219000	0.42899|0.42899	0.831000|0.831000	0.34780|0.34780	0.379000|0.379000	0.24179|0.24179	TCT|GTC		0.642	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		7	20	0	0	0	1	0	7	20				
SHANK1	50944	broad.mit.edu	37	19	51217085	51217085	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:51217085G>A	ENST00000293441.1	-	5	780	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SHANK1_ENST00000359082.3_Silent_p.A254A|SHANK1_ENST00000391814.1_Silent_p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	254					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(760-762)gcC>gcT		SH3 and multiple ankyrin repeat domains 1							41.0	47.0	45.0					19																	51217085		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217085G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.762C>T	19.37:g.51217085G>A						SHANK1_ENST00000359082.3_Silent_p.A254A|SHANK1_ENST00000391814.1_Silent_p.A254A	p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	5	780	-		all_neural(266;0.057)	254					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.762C>T	CCDS12799.1																																																																																				0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		8	57	0	0	0	1	0	8	57				
KRT15	3866	broad.mit.edu	37	17	39672161	39672161	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:39672161G>A	ENST00000254043.3	-	5	4587	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	KRT15_ENST00000393976.2_Silent_p.I334I|KRT15_ENST00000393974.3_Silent_p.I169I|KRT15_ENST00000393981.3_Silent_p.I169I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	334	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTGCAGCTCGATCTCCAGCT	0.577																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1000-1002)atC>atT		keratin 15							206.0	186.0	193.0					17																	39672161		2203	4300	6503	SO:0001819	synonymous_variant	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39672161G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1002C>T	17.37:g.39672161G>A						KRT15_ENST00000393976.2_Silent_p.I334I|KRT15_ENST00000393981.3_Silent_p.I169I|KRT15_ENST00000393974.3_Silent_p.I169I	p.I334I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			5	4587	-		Breast(137;0.000286)	334			Coil 2.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	c.1002C>T	CCDS11398.1																																																																																				0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		51	91	0	0	0	1	0	51	91				
CPED1	79974	broad.mit.edu	37	7	120768459	120768459	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:120768459A>C	ENST00000310396.5	+	11	1793	c.1326A>C	c.(1324-1326)ctA>ctC	p.L442L	CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	442						endoplasmic reticulum (GO:0005783)											AAAAGGAACTAAATCAGTGTC	0.358																																						ENST00000310396.5																			0											c.(1324-1326)ctA>ctC		cadherin-like and PC-esterase domain containing 1							87.0	88.0	88.0					7																	120768459		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120768459A>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1326A>C	7.37:g.120768459A>C						CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	p.L442L	NM_024913.4	NP_079189.4					11	1793	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.1326A>C	CCDS34739.1																																																																																				0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		13	29	0	0	0	1	0	13	29				
AFM	173	broad.mit.edu	37	4	74351740	74351740	+	Silent	SNP	C	C	T	rs368964031	byFrequency	TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr4:74351740C>T	ENST00000226355.3	+	4	525	c.432C>T	c.(430-432)ccC>ccT	p.P144P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	144	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.P144P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTGGATCCCGAAGAGAAAT	0.388													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16972	0.001		0.0	False		,,,				2504	0.0					ENST00000226355.3																			1	Substitution - coding silent(1)	p.P144P(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(430-432)ccC>ccT		afamin		C		0,4406		0,0,2203	88.0	90.0	89.0		432	-4.7	1.0	4		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AFM	NM_001133.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		144/600	74351740	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74351740C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.432C>T	4.37:g.74351740C>T							p.P144P	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	525	+	Breast(15;0.00102)		144			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.432C>T	CCDS3557.1																																																																																				0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			22	45	0	0	0	1	0	22	45				
DENND2A	27147	broad.mit.edu	37	7	140285506	140285506	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:140285506C>T	ENST00000275884.6	-	4	1545	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	DENND2A_ENST00000492720.1_Silent_p.P376P|DENND2A_ENST00000537639.1_Silent_p.P376P|DENND2A_ENST00000496613.1_Silent_p.P376P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	376					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCTTCATTGGCGGATCTGTGT	0.488																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1126-1128)ccG>ccA		DENN/MADD domain containing 2A							154.0	152.0	153.0					7																	140285506		1970	4168	6138	SO:0001819	synonymous_variant	27147							g.chr7:140285506C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1128G>A	7.37:g.140285506C>T						DENND2A_ENST00000492720.1_Silent_p.P376P|DENND2A_ENST00000496613.1_Silent_p.P376P|DENND2A_ENST00000537639.1_Silent_p.P376P	p.P376P			Q9ULE3	DEN2A_HUMAN			4	1545	-	Melanoma(164;0.00956)		376					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.1128G>A	CCDS43659.1																																																																																				0.488	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		4	109	0	0	0	1	0	4	109				
ZNF841	284371	broad.mit.edu	37	19	52580282	52580282	+	Intron	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:52580282C>T	ENST00000426391.2	-	4	475				ZNF841_ENST00000389534.4_Missense_Mutation_p.C24Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGGTCCAGGCATTTCCACTC	0.468																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(70-72)tGc>tAc		zinc finger protein 841							70.0	62.0	64.0					19																	52580282		692	1591	2283	SO:0001627	intron_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52580282C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.76+7757G>A	19.37:g.52580282C>T						ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y|ZNF841_ENST00000426391.2_Intron	p.C24Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			5	530	-			0					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.71G>A		.	.	.	.	.	.	.	.	.	.	C	0.006	-2.036489	0.00406	.	.	ENSG00000197608	ENST00000389534	T	0.01767	4.65	2.66	-1.5	0.08691	.	.	.	.	.	T	0.01454	0.0047	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.44221	-0.9342	8	0.13853	T	0.58	.	2.6778	0.05085	0.212:0.3719:0.0:0.4161	.	24	Q6ZN19-3	.	Y	24	ENSP00000374185:C24Y	ENSP00000374185:C24Y	C	-	2	0	ZNF841	57272094	0.000000	0.05858	0.070000	0.20053	0.203000	0.24098	-2.141000	0.01300	0.036000	0.15547	0.449000	0.29647	TGC		0.468	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		15	41	0	0	0	1	0	15	41				
BICD1	636	broad.mit.edu	37	12	32369195	32369195	+	Silent	SNP	C	C	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369195C>G	ENST00000281474.5	+	2	331	c.228C>G	c.(226-228)tcC>tcG	p.S76S	BICD1_ENST00000548411.1_Silent_p.S76S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	76					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGGGCAGTCCTTCTCCATCC	0.463																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(226-228)tcC>tcG		bicaudal D homolog 1 (Drosophila)							71.0	73.0	72.0					12																	32369195		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369195C>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.228C>G	12.37:g.32369195C>G						BICD1_ENST00000281474.5_Silent_p.S76S	p.S76S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	409	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		76					A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.228C>G	CCDS8726.1																																																																																				0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		4	54	0	0	0	1	0	4	54				
TMEM87B	84910	broad.mit.edu	37	2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:112813329A>G	ENST00000283206.4	+	1	530	c.161A>G	c.(160-162)aAc>aGc	p.N54S		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	54						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GAGACAGTCAACGACGTAAGT	0.711																																						ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(160-162)aAc>aGc		transmembrane protein 87B							14.0	16.0	15.0					2																	112813329		2184	4277	6461	SO:0001583	missense	84910					integral to membrane		g.chr2:112813329A>G	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.161A>G	2.37:g.112813329A>G	ENSP00000283206:p.Asn54Ser						p.N54S	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			1	530	+			54					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.161A>G	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	a	10.13	1.264801	0.23136	.	.	ENSG00000153214	ENST00000283206	.	.	.	3.66	-7.32	0.01436	.	0.634288	0.14786	N	0.298505	T	0.22475	0.0542	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.43015	-0.9417	9	0.07325	T	0.83	-1.5524	6.6825	0.23127	0.1949:0.4769:0.3282:0.0	.	54;54	Q96K49-2;Q96K49	.;TM87B_HUMAN	S	54	.	ENSP00000283206:N54S	N	+	2	0	TMEM87B	112529800	0.000000	0.05858	0.164000	0.22755	0.979000	0.70002	-1.082000	0.03400	-0.814000	0.04352	-0.602000	0.04101	AAC		0.711	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		11	23	0	0	0	1	0	11	23				
APOBEC4	403314	broad.mit.edu	37	1	183617689	183617689	+	Silent	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:183617689A>T	ENST00000308641.4	-	2	499	c.228T>A	c.(226-228)ggT>ggA	p.G76G	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	76					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCACCAGGCTACCAGAAGAAG	0.388																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(226-228)ggT>ggA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							132.0	138.0	136.0					1																	183617689		2203	4300	6503	SO:0001819	synonymous_variant	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617689A>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.228T>A	1.37:g.183617689A>T						RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron	p.G76G	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	499	-			76					Q8N7F6	Silent	SNP	ENST00000308641.4	37	c.228T>A	CCDS1358.1																																																																																				0.388	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		5	41	0	0	0	1	0	5	41				
VCPIP1	80124	broad.mit.edu	37	8	67579179	67579179	+	Silent	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr8:67579179C>A	ENST00000310421.4	-	1	273	c.15G>T	c.(13-15)ccG>ccT	p.P5P	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	5	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			gcggcggcggcggcggcTGAG	0.692																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(13-15)ccG>ccT		valosin containing protein (p97)/p47 complex interacting protein 1							4.0	6.0	6.0					8																	67579179		1746	3665	5411	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67579179C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.15G>T	8.37:g.67579179C>A							p.P5P	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	273	-		Lung NSC(129;0.142)|all_lung(136;0.227)	5			Pro-rich.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.15G>T	CCDS6192.1																																																																																				0.692	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			4	13	1	0	0.00909568	1	0.00934834	4	13				
LRP1B	53353	broad.mit.edu	37	2	141609267	141609267	+	Silent	SNP	C	C	T	rs375820720		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:141609267C>T	ENST00000389484.3	-	28	5636	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1555	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGGGGGCACGCACAGGCAG	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4663-4665)gcG>gcA		low density lipoprotein receptor-related protein 1B		T		0,4406		0,0,2203	107.0	105.0	106.0		4665	-11.0	0.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1555/4600	141609267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141609267C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4665G>A	2.37:g.141609267C>T		TSP Lung(27;0.18)					p.A1555A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	28	5636	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1555					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4665G>A	CCDS2182.1																																																																																				0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	33	0	0	0	1	0	20	33				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:47696426A>T	ENST00000393328.2	-	6	762	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393331.3_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Atc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>A	17.37:g.47696426A>T	ENSP00000377001:p.Phe133Ile	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I	p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932698	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.88181	2.935	0.80722	D	1	P	0.41475	0.751	P	0.47206	0.541	T	0.68697	-0.5340	10	0.72032	D	0.01	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	I	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133I;ENSP00000377004:F133I;ENSP00000240327:F133I;ENSP00000425905:F133I;ENSP00000420908:F133I;ENSP00000426986:F133I;ENSP00000420960:F133I;ENSP00000426262:F133I;ENSP00000424119:F133I	ENSP00000240327:F133I	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		31	79	0	0	0	1	0	31	79				
ASB1	51665	broad.mit.edu	37	2	239353281	239353281	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:239353281C>T	ENST00000264607.4	+	4	1040	c.793C>T	c.(793-795)Cta>Tta	p.L265L	ASB1_ENST00000409297.1_Silent_p.L164L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	265					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CAACCTGAATCTAGTGAAGTG	0.562																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(793-795)Cta>Tta		ankyrin repeat and SOCS box containing 1							77.0	84.0	82.0					2																	239353281		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239353281C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.793C>T	2.37:g.239353281C>T						ASB1_ENST00000409297.1_Silent_p.L164L	p.L265L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	4	1040	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	265					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.793C>T	CCDS33416.1																																																																																				0.562	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		24	49	0	0	0	1	0	24	49				
TMEM132A	54972	broad.mit.edu	37	11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702905C>A	ENST00000453848.2	+	10	2176	c.2018C>A	c.(2017-2019)gCc>gAc	p.A673D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.A674D			Q24JP5	T132A_HUMAN	transmembrane protein 132A	673	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTTCCCGCCCCAAAGCAG	0.642																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2020-2022)gCc>gAc		transmembrane protein 132A							17.0	16.0	16.0					11																	60702905		2201	4294	6495	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702905C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2018C>A	11.37:g.60702905C>A	ENSP00000405823:p.Ala673Asp					TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D	p.A674D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			10	2174	+			673			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2021C>A	CCDS44618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533778|1.533778	0.27387|0.27387	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480|ENST00000540112	T;T;T|.	0.14893|.	2.47;2.47;2.47|.	4.81|4.81	1.6|1.6	0.23607|0.23607	.|.	0.623994|.	0.14745|.	N|.	0.300943|.	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P|.	0.42692|.	0.744;0.787|.	B;B|.	0.42282|.	0.211;0.382|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.87932|.	D|.	0|.	.|.	2.8813|2.8813	0.05648|0.05648	0.1466:0.5429:0.1428:0.1677|0.1466:0.5429:0.1428:0.1677	.|.	673;674|.	Q24JP5;Q24JP5-2|.	T132A_HUMAN;.|.	D|T	424;673;674;39|102	ENSP00000405823:A673D;ENSP00000005286:A674D;ENSP00000439716:A39D|.	ENSP00000005286:A674D|.	A|P	+|+	2|1	0|0	TMEM132A|TMEM132A	60459481|60459481	0.000000|0.000000	0.05858|0.05858	0.751000|0.751000	0.31187|0.31187	0.912000|0.912000	0.54170|0.54170	0.256000|0.256000	0.18351|0.18351	0.526000|0.526000	0.28541|0.28541	0.462000|0.462000	0.41574|0.41574	GCC|CCC		0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	5	1	0	6.4e-05	1	6.76571e-05	3	5				
MKL1	57591	broad.mit.edu	37	22	40816928	40816928	+	Silent	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:40816928G>C	ENST00000355630.3	-	10	1394	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_ENST00000396617.3_Silent_p.L268L|MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000402042.1_Silent_p.L218L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	268	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGAGGAAGAGCTGCTGCT	0.627			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(802-804)ctC>ctG		megakaryoblastic leukemia (translocation) 1							73.0	71.0	71.0					22																	40816928		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816928G>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.804C>G	22.37:g.40816928G>C						MKL1_ENST00000402042.1_Silent_p.L218L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000407029.1_Silent_p.L268L	p.L268L			Q969V6	MKL1_HUMAN			10	1394	-			268			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.804C>G	CCDS14003.1																																																																																				0.627	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		16	36	0	0	0	1	0	16	36				
SLC5A12	159963	broad.mit.edu	37	11	26725366	26725366	+	Silent	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:26725366T>C	ENST00000396005.3	-	5	963	c.654A>G	c.(652-654)acA>acG	p.T218T	SLC5A12_ENST00000280467.6_Silent_p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	218					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGATCCATTTGTTGATTGCT	0.358																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(652-654)acA>acG		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							230.0	218.0	222.0					11																	26725366		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725366T>C	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.654A>G	11.37:g.26725366T>C						SLC5A12_ENST00000280467.6_Silent_p.T218T	p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	963	-			218					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.654A>G	CCDS7860.2																																																																																				0.358	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		40	73	0	0	0	1	0	40	73				
RFC3	5983	broad.mit.edu	37	13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	rs140507898		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr13:34392356G>A	ENST00000380071.3	+	1	171	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	14					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGCTCCTTGGGACGGCTGGAC	0.701																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(40-42)gGa>gAa		replication factor C (activator 1) 3, 38kDa							22.0	30.0	27.0					13																	34392356		2192	4273	6465	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34392356G>A		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.41G>A	13.37:g.34392356G>A	ENSP00000369411:p.Gly14Glu					RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	1	171	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	14					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.41G>A	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948854	0.34377	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.40756	1.02;1.02	5.06	0.847	0.18961	.	0.734087	0.12985	N	0.422928	T	0.18257	0.0438	N	0.00760	-1.21	0.09310	N	1	B;B;B	0.18863	0.031;0.002;0.001	B;B;B	0.21360	0.034;0.002;0.002	T	0.19192	-1.0313	10	0.40728	T	0.16	-8.1737	17.346	0.87309	0.0:0.7201:0.2799:0.0	.	14;14;14	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	E	14	ENSP00000369411:G14E;ENSP00000401001:G14E	ENSP00000369411:G14E	G	+	2	0	RFC3	33290356	0.040000	0.19996	0.081000	0.20488	0.920000	0.55202	0.172000	0.16704	0.116000	0.18110	0.655000	0.94253	GGA		0.701	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		10	37	0	0	0	1	0	10	37				
PUM2	23369	broad.mit.edu	37	2	20463106	20463106	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:20463106A>C	ENST00000361078.2	-	13	2095	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000536417.1_Silent_p.P635P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	691					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGGAAGGAGGAAAGAGCT	0.463																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2071-2073)ccT>ccG		pumilio RNA-binding family member 2							62.0	63.0	63.0					2																	20463106		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463106A>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2073T>G	2.37:g.20463106A>C						PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000403432.1_Silent_p.P691P	p.P691P			Q8TB72	PUM2_HUMAN			13	2095	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		691					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.2073T>G																																																																																					0.463	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		15	30	0	0	0	1	0	15	30				
FAM71B	153745	broad.mit.edu	37	5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:156590271G>T	ENST00000302938.4	-	2	1100	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	335						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATATGTTGGCAGCAC	0.567																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1003-1005)aaC>aaA		family with sequence similarity 71, member B							107.0	104.0	105.0					5																	156590271		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590271G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1005C>A	5.37:g.156590271G>T	ENSP00000305596:p.Asn335Lys						p.N335K	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1100	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	335					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1005C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296311	0.10622	.	.	ENSG00000170613	ENST00000302938	T	0.03468	3.92	3.76	0.752	0.18398	.	0.588289	0.15303	N	0.269537	T	0.02727	0.0082	L	0.41824	1.3	0.09310	N	1	B	0.23128	0.08	B	0.15484	0.013	T	0.48317	-0.9046	10	0.09338	T	0.73	-8.9582	5.9315	0.19142	0.3824:0.0:0.6176:0.0	.	335	Q8TC56	FA71B_HUMAN	K	335	ENSP00000305596:N335K	ENSP00000305596:N335K	N	-	3	2	FAM71B	156522849	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.378000	0.07446	0.129000	0.18514	-0.367000	0.07326	AAC		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		28	69	1	0	1.7881e-09	1	2.00484e-09	28	69				
ZBTB7A	51341	broad.mit.edu	37	19	4054988	4054988	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:4054988G>A	ENST00000322357.4	-	2	521	c.243C>T	c.(241-243)agC>agT	p.S81S	ZBTB7A_ENST00000601588.1_Silent_p.S81S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTCGGCGCTGACGAAGT	0.662																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(241-243)agC>agT		zinc finger and BTB domain containing 7A							78.0	61.0	67.0					19																	4054988		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054988G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.243C>T	19.37:g.4054988G>A						ZBTB7A_ENST00000601588.1_Silent_p.S81S	p.S81S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	521	-		Hepatocellular(1079;0.137)	81			BTB.		D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.243C>T	CCDS12119.1																																																																																				0.662	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		16	14	0	0	0	1	0	16	14				
PIGQ	9091	broad.mit.edu	37	16	624161	624161	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr16:624161C>A	ENST00000026218.5	+	2	175	c.87C>A	c.(85-87)agC>agA	p.S29R	PIGQ_ENST00000470411.2_Missense_Mutation_p.S29R|PIGQ_ENST00000321878.5_Missense_Mutation_p.S29R|PIGQ_ENST00000409527.2_Missense_Mutation_p.S29R	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	29					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGCAGAGCAGCGCCGTGGTCC	0.697																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(85-87)agC>agA		phosphatidylinositol glycan anchor biosynthesis, class Q							76.0	61.0	66.0					16																	624161		2200	4299	6499	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624161C>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.87C>A	16.37:g.624161C>A	ENSP00000026218:p.Ser29Arg					PIGQ_ENST00000026218.5_Missense_Mutation_p.S29R|PIGQ_ENST00000409527.2_Missense_Mutation_p.S29R|PIGQ_ENST00000470411.2_Missense_Mutation_p.S29R	p.S29R	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	246	+		Hepatocellular(780;0.00335)	29					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.87C>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804835	0.50315	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.61158	0.35;0.13;0.32;0.23;0.13;0.4;1.39;0.26	5.17	-6.39	0.01951	.	0.202450	0.53938	D	0.000056	T	0.64538	0.2607	M	0.63843	1.955	0.52501	D	0.999957	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.993	T	0.69676	-0.5081	10	0.87932	D	0	-18.508	10.3724	0.44062	0.0:0.1115:0.1048:0.7836	.	43;29;29;29	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	R	29	ENSP00000293874:S29R;ENSP00000386760:S29R;ENSP00000386554:S29R;ENSP00000413753:S29R;ENSP00000326674:S29R;ENSP00000387820:S29R;ENSP00000026218:S29R;ENSP00000439650:S29R	ENSP00000026218:S29R	S	+	3	2	PIGQ	564162	0.609000	0.26975	0.576000	0.28549	0.443000	0.32047	-0.324000	0.07986	-0.715000	0.04968	-0.424000	0.05967	AGC		0.697	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	36	1	0	0.014758	1	0.014758	4	36				
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					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)		CTGATTGGCTGCAAAAGCTGG	0.338																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(622-624)gCa>gTa		Mdm1 nuclear protein homolog (mouse)							121.0	133.0	129.0					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	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.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val					MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR	p.A208V	NM_017440.4	NP_059136.2	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)	4	709	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		4	112	0	0	0	1	0	4	112				
ATP13A5	344905	broad.mit.edu	37	3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:193002807C>A	ENST00000342358.4	-	27	3239	c.3122G>T	c.(3121-3123)aGt>aTt	p.S1041I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGTCTCAAAACTTAAAATTGA	0.393																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3121-3123)aGt>aTt		ATPase type 13A5							126.0	131.0	129.0					3																	193002807		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193002807C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3122G>T	3.37:g.193002807C>A	ENSP00000341942:p.Ser1041Ile					ATP13A5_ENST00000495496.1_5'UTR	p.S1041I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	27	3239	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1041					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.3122G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623855	0.66901	.	.	ENSG00000187527	ENST00000342358	T	0.73363	-0.74	5.48	5.48	0.80851	.	0.057592	0.64402	D	0.000001	D	0.84973	0.5591	M	0.84773	2.715	0.36466	D	0.866967	D	0.63046	0.992	D	0.64237	0.923	D	0.89102	0.3490	10	0.72032	D	0.01	-14.3328	10.3095	0.43699	0.0:0.9114:0.0:0.0886	.	1041	Q4VNC0	AT135_HUMAN	I	1041	ENSP00000341942:S1041I	ENSP00000341942:S1041I	S	-	2	0	ATP13A5	194485501	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.463000	0.53050	2.576000	0.86940	0.655000	0.94253	AGT		0.393	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		13	31	1	0	9.31168e-06	1	1.01333e-05	13	31				
ARHGAP26	23092	broad.mit.edu	37	5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:142264887G>C	ENST00000274498.4	+	5	787	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.E137Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	137					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGACAAAGAGACAGAAAA	0.358																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(409-411)Gag>Cag		Rho GTPase activating protein 26							102.0	112.0	109.0					5																	142264887		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142264887G>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.409G>C	5.37:g.142264887G>C	ENSP00000274498:p.Glu137Gln					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q	p.E137Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	764	+		all_hematologic(541;0.0416)	137					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.409G>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187135	0.78789	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000378013	T;T;T	0.34667	1.35;1.35;1.35	5.9	5.9	0.94986	IRSp53/MIM homology domain (IMD) (2);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.50333	1.59	0.80722	D	1	D;B	0.89917	1.0;0.207	D;B	0.81914	0.995;0.237	T	0.32981	-0.9886	10	0.19147	T	0.46	.	19.8673	0.96808	0.0:0.0:1.0:0.0	.	137;137	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	Q	137;137;109	ENSP00000274498:E137Q;ENSP00000367243:E137Q;ENSP00000367252:E109Q	ENSP00000274498:E137Q	E	+	1	0	ARHGAP26	142245071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.325000	0.96381	2.793000	0.96121	0.563000	0.77884	GAG		0.358	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		13	42	0	0	0	1	0	13	42				
TMEM132A	54972	broad.mit.edu	37	11	60702907	60702907	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702907C>T	ENST00000453848.2	+	10	2178	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P675S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	674	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTCCCGCCCCAAAGCAGGT	0.647																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2023-2025)Cca>Tca		transmembrane protein 132A							17.0	16.0	16.0					11																	60702907		2202	4294	6496	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702907C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2020C>T	11.37:g.60702907C>T	ENSP00000405823:p.Pro674Ser					TMEM132A_ENST00000453848.2_Missense_Mutation_p.P674S	p.P675S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			10	2176	+			674			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2023C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593259	0.28357	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480	T;T;T	0.54071	0.59;0.59;2.57	4.81	3.87	0.44632	.	0.215447	0.30151	N	0.010282	T	0.51652	0.1687	M	0.79258	2.445	0.22330	N	0.999193	B;B	0.34200	0.383;0.441	B;B	0.32805	0.106;0.153	T	0.56715	-0.7933	10	0.87932	D	0	.	10.2774	0.43519	0.0:0.8461:0.0:0.1539	.	674;675	Q24JP5;Q24JP5-2	T132A_HUMAN;.	S	425;674;675;40	ENSP00000405823:P674S;ENSP00000005286:P675S;ENSP00000439716:P40S	ENSP00000005286:P675S	P	+	1	0	TMEM132A	60459483	0.000000	0.05858	0.987000	0.45799	0.929000	0.56500	0.363000	0.20301	2.388000	0.81334	0.462000	0.41574	CCA		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	6	0	0	0	1	0	3	6				
ZBTB2	57621	broad.mit.edu	37	6	151687732	151687732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr6:151687732G>A	ENST00000325144.4	-	3	609	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGTGGATCTCGCCCGAGTTTT	0.532																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(469-471)Cga>Tga		zinc finger and BTB domain containing 2							95.0	95.0	95.0					6																	151687732		2203	4300	6503	SO:0001587	stop_gained	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687732G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.469C>T	6.37:g.151687732G>A	ENSP00000323183:p.Arg157*						p.R157*	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	609	-			157					A8K7C7|Q5SZ81|Q9P245	Nonsense_Mutation	SNP	ENST00000325144.4	37	c.469C>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795866	0.90453	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.45	0.53987	.	0.340718	0.27976	N	0.017095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.05	15.3813	0.74658	0.0:0.0:0.8506:0.1493	.	.	.	.	X	157	.	ENSP00000323183:R157X	R	-	1	2	ZBTB2	151729425	1.000000	0.71417	0.528000	0.27938	0.890000	0.51754	4.921000	0.63397	1.173000	0.42796	0.561000	0.74099	CGA		0.532	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		20	42	0	0	0	1	0	20	42				
HMCN1	83872	broad.mit.edu	37	1	186064439	186064439	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:186064439C>T	ENST00000271588.4	+	68	10588	c.10359C>T	c.(10357-10359)acC>acT	p.T3453T	HMCN1_ENST00000367492.2_Silent_p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3453	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGTTCCACCTCTATGGCAT	0.493																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10357-10359)acC>acT		hemicentin 1							94.0	89.0	91.0					1																	186064439		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186064439C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10359C>T	1.37:g.186064439C>T						HMCN1_ENST00000367492.2_Silent_p.T3453T	p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			68	10588	+			3453			Ig-like C2-type 33.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10359C>T	CCDS30956.1																																																																																				0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	38	0	0	0	1	0	9	38				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	104	0	0	0	1	0	4	104				
BICD1	636	broad.mit.edu	37	12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369197T>C	ENST00000281474.5	+	2	333	c.230T>C	c.(229-231)tTc>tCc	p.F77S	BICD1_ENST00000548411.1_Missense_Mutation_p.F77S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	77					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGCAGTCCTTCTCCATCCAC	0.463																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(229-231)tTc>tCc		bicaudal D homolog 1 (Drosophila)							72.0	73.0	73.0					12																	32369197		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369197T>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.230T>C	12.37:g.32369197T>C	ENSP00000281474:p.Phe77Ser					BICD1_ENST00000281474.5_Missense_Mutation_p.F77S	p.F77S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	411	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		77					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.230T>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312786	0.40895	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.40476	1.03;1.03	5.45	5.45	0.79879	.	0.070349	0.64402	D	0.000013	T	0.42381	0.1200	N	0.25647	0.755	0.80722	D	1	P;P	0.47841	0.718;0.901	P;P	0.52823	0.447;0.71	T	0.14755	-1.0461	10	0.18710	T	0.47	.	15.5284	0.75932	0.0:0.0:0.0:1.0	.	77;77	F8W113;Q96G01	.;BICD1_HUMAN	S	77	ENSP00000446793:F77S;ENSP00000281474:F77S	ENSP00000281474:F77S	F	+	2	0	BICD1	32260464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.197000	0.58413	2.059000	0.61396	0.533000	0.62120	TTC		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		4	54	0	0	0	1	0	4	54				
ANXA2R	389289	broad.mit.edu	37	5	43039709	43039709	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:43039709C>T	ENST00000314890.3	-	2	1859	c.440G>A	c.(439-441)cGc>cAc	p.R147H	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	147																	AGGATGGCGGCGTTCCAAAAG	0.622											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(439-441)cGc>cAc		annexin A2 receptor							44.0	48.0	47.0					5																	43039709		2203	4300	6503	SO:0001583	missense	389289						receptor activity	g.chr5:43039709C>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.440G>A	5.37:g.43039709C>T	ENSP00000315915:p.Arg147His		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.R147H	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1859	-			147					Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	c.440G>A	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454475	0.26161	.	.	ENSG00000177721	ENST00000314890	T	0.32272	1.46	3.11	-2.12	0.07165	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.34722	0.188	T	0.15464	-1.0436	9	0.42905	T	0.14	.	0.4022	0.00427	0.3317:0.2874:0.1628:0.2181	.	147	Q3ZCQ2	AX2R_HUMAN	H	147	ENSP00000315915:R147H	ENSP00000315915:R147H	R	-	2	0	C5orf39	43075466	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.616000	0.05591	-0.545000	0.06224	0.655000	0.94253	CGC		0.622	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		7	20	0	0	0	1	0	7	20				
FOXL2NB	401089	broad.mit.edu	37	3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:138669318_138669323delTGAGCG	ENST00000383165.3	+	3	563_568	c.432_437delTGAGCG	c.(430-438)cctgagcgg>ccg	p.ER147del		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		147										large_intestine(1)|lung(3)	4						TTCCCGCTCCTGAGCGGGAGAGAATA	0.626																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(430-438)ccg>cc		chromosome 3 open reading frame 72																																				SO:0001651	inframe_deletion	401089							g.chr3:138669318_138669323delTGAGCG																												ENST00000383165.3:c.432_437delTGAGCG	3.37:g.138669318_138669323delTGAGCG	ENSP00000372651:p.Glu147_Arg148del						p.PER144del	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	563_568	+			144					A6NGX0	In_Frame_Del	DEL	ENST00000383165.3	37	c.432_437delTGAGCG	CCDS43155.1																																																																																				0.626	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			17	40						17	40	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72503837	72503837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr10:72503837delA	ENST00000373207.1	+	14	2074	c.2074delA	c.(2074-2076)aagfs	p.K692fs	ADAMTS14_ENST00000373208.1_Frame_Shift_Del_p.K695fs	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	692	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGCTGTGACAAGGAGGTGGG	0.667																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2083-2085)agfs		ADAM metallopeptidase with thrombospondin type 1 motif, 14							27.0	24.0	25.0					10																	72503837		2195	4289	6484	SO:0001589	frameshift_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72503837delA	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2074delA	10.37:g.72503837delA	ENSP00000362303:p.Lys692fs					ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.K692fs	p.K695fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			14	2083	+			692			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Frame_Shift_Del	DEL	ENST00000373207.1	37	c.2083delA	CCDS7306.1																																																																																				0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		2	4						2	4	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64107744	64107744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:64107744delG	ENST00000356786.5	+	1	50	c.6delG	c.(4-6)gagfs	p.E2fs	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	2						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGGCATGGAGGGGGGCAAGG	0.692																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(4-6)gafs		coiled-coil domain containing 88B							4.0	5.0	5.0					11																	64107744		1999	4022	6021	SO:0001589	frameshift_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64107744delG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.6delG	11.37:g.64107744delG	ENSP00000349238:p.Glu2fs					CCDC88B_ENST00000463837.1_3'UTR	p.E2fs	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			1	50	+			2					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Frame_Shift_Del	DEL	ENST00000356786.5	37	c.6delG	CCDS8072.2																																																																																				0.692	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		2	4						2	4	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:110630424delG	ENST00000242591.5	+	14	1976	c.1470delG	c.(1468-1470)gtgfs	p.V490fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	490					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGT	0.279																																						ENST00000242591.5																			1	Insertion - Frameshift(1)	p.L493fs*7(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1468-1470)gtfs		intraflagellar transport 81 homolog (Chlamydomonas)							70.0	68.0	69.0					12																	110630424		1795	4055	5850	SO:0001589	frameshift_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110630424delG	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1470delG	12.37:g.110630424delG	ENSP00000242591:p.Val490fs					IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			14	1976	+			490					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Del	DEL	ENST00000242591.5	37	c.1470delG	CCDS41831.1																																																																																				0.279	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		12	25						12	25	---	---	---	---
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																						ENST00000408133.1																			0																																																			0							g.chr14:70270922delT	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT														0	126	-									RNA	DEL	ENST00000408133.1	37																																																																																						0.353	SNORA11.1-201	NOVEL	basic	snoRNA	snoRNA		NR_002953		2	4						2	4	---	---	---	---
MIS12	79003	broad.mit.edu	37	17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:5392653delT	ENST00000381165.3	+	3	1024	c.471delT	c.(469-471)actfs	p.T157fs	MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACGTTGACTTTCTTTGATG	0.398																																						ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(469-471)acfs		MIS12 kinetochore complex component							189.0	185.0	186.0					17																	5392653		2203	4300	6503	SO:0001589	frameshift_variant	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392653delT	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.471delT	17.37:g.5392653delT	ENSP00000370557:p.Thr157fs					MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs	p.T157fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	1024	+			157						Frame_Shift_Del	DEL	ENST00000381165.3	37	c.471delT	CCDS11074.1																																																																																				0.398	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		79	156						79	156	---	---	---	---
GJD3	125111	broad.mit.edu	37	17	38520102	38520102	+	5'Flank	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:38520102delG	ENST00000578689.1	-	0	0				GJD3_ENST00000337376.4_5'Flank|CTD-2267D19.3_ENST00000578774.1_Frame_Shift_Del_p.W305fs	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa						cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			GTCAGGGGATGGGGCAAGTCA	0.701																																						ENST00000578774.1																			0											c.(913-915)tgfs									4.0	4.0	4.0					17																	38520102		1589	3382	4971	SO:0001631	upstream_gene_variant	0							g.chr17:38520102delG	AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144			17.37:g.38520102delG	Exception_encountered						p.W305fs							2	1251	+								Q6ZUW6	Frame_Shift_Del	DEL	ENST00000578689.1	37	c.914delG	CCDS58547.1																																																																																				0.701	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219		2	4						2	4	---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:18178954delT	ENST00000317582.5	+	5	781	c.434delT	c.(433-435)gttfs	p.V145fs	BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000355028.3_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	145					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGACCACAGTTCATGCCAGC	0.378																																						ENST00000317582.5																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(433-435)gtfs		BCL2-like 13 (apoptosis facilitator)							103.0	102.0	102.0					22																	18178954		2203	4300	6503	SO:0001589	frameshift_variant	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18178954delT	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.434delT	22.37:g.18178954delT	ENSP00000318883:p.Val145fs					BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000355028.3_Intron	p.V145fs	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	5	781	+		all_epithelial(15;0.123)	145					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Frame_Shift_Del	DEL	ENST00000317582.5	37	c.434delT	CCDS13746.1																																																																																				0.378	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		8	38						8	38	---	---	---	---
SAMM50	25813	broad.mit.edu	37	22	44386201	44386201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:44386201delG	ENST00000350028.4	+	14	1436	c.1279delG	c.(1279-1281)gggfs	p.G427fs	SAMM50_ENST00000396202.3_Frame_Shift_Del_p.G217fs	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	427					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1279-1281)ggfs		SAMM50 sorting and assembly machinery component							139.0	105.0	117.0					22																	44386201		2203	4300	6503	SO:0001589	frameshift_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44386201delG	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1279delG	22.37:g.44386201delG	ENSP00000345445:p.Gly427fs					SAMM50_ENST00000396202.3_Frame_Shift_Del_p.G217fs	p.G427fs	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			14	1436	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	427					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Frame_Shift_Del	DEL	ENST00000350028.4	37	c.1279delG	CCDS14055.1																																																																																				0.562	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		21	59						21	59	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chrY:21758039delA	ENST00000253320.4	+	0	3120																				haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													GA	15	0.0125209	0.0063	0.0059	1198	,	,		6405	0.0082		0.0063	False		,,,				1198	0.0038					ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														0							g.chrY:21758039delA																													Y.37:g.21758039delA										Q9BZA5	CY15A_HUMAN			0	3120	+									RNA	DEL	ENST00000253320.4	37																																																																																						0.378	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			2	4						2	4	---	---	---	---
