#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
RTCB	51493	broad.mit.edu	37	22	32804799	32804799	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:32804799T>C	ENST00000216038.5	-	2	213	c.115A>G	c.(115-117)Aat>Gat	p.N39D	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Missense_Mutation_p.N39D	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AGAGCATCATTCACATAGAAA	0.438																																						ENST00000216038.5																			0											c.(115-117)Aat>Gat		RNA 2',3'-cyclic phosphate and 5'-OH ligase							200.0	154.0	170.0					22																	32804799		2203	4300	6503	SO:0001583	missense	51493							g.chr22:32804799T>C	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.115A>G	22.37:g.32804799T>C	ENSP00000216038:p.Asn39Asp					RTCB_ENST00000451746.2_Missense_Mutation_p.N39D	p.N39D	NM_014306.4	NP_055121.1					2	213	-									Missense_Mutation	SNP	ENST00000216038.5	37	c.115A>G	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322090	0.41096	.	.	ENSG00000100220	ENST00000216038;ENST00000451746	T;T	0.28895	1.59;1.59	5.9	5.9	0.94986	.	0.087284	0.85682	D	0.000000	T	0.27594	0.0678	L	0.43923	1.385	0.80722	D	1	B	0.17667	0.023	B	0.24269	0.052	T	0.09487	-1.0672	10	0.08179	T	0.78	-22.713	16.3245	0.82970	0.0:0.0:0.0:1.0	.	39	Q9Y3I0	RTCB_HUMAN	D	39	ENSP00000216038:N39D;ENSP00000413466:N39D	ENSP00000216038:N39D	N	-	1	0	C22orf28	31134799	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.763000	0.85283	2.254000	0.74563	0.460000	0.39030	AAT		0.438	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		3	60	0	0	0	1	0	3	60				
CFHR5	81494	broad.mit.edu	37	1	196973838	196973838	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:196973838A>G	ENST00000256785.4	+	9	1487	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A	CFHR5_ENST00000367414.5_Missense_Mutation_p.T484A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	460	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAATGGAGATACCACCTCATT	0.408																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1450-1452)Acc>Gcc		complement factor H-related 5							141.0	137.0	138.0					1																	196973838		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196973838A>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1378A>G	1.37:g.196973838A>G	ENSP00000256785:p.Thr460Ala					CFHR5_ENST00000256785.4_Missense_Mutation_p.T460A	p.T484A	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			9	1506	+			460			Sushi 8.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1450A>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953369	0.34471	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65732	-0.17;-0.17	3.69	1.12	0.20585	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.38719	0.1051	N	0.17345	0.48	0.21184	N	0.999764	B	0.16396	0.017	B	0.22601	0.04	T	0.22800	-1.0206	9	0.16420	T	0.52	.	3.8189	0.08827	0.6564:0.2187:0.1249:0.0	.	460	Q9BXR6	FHR5_HUMAN	A	484;460	ENSP00000356384:T484A;ENSP00000256785:T460A	ENSP00000256785:T460A	T	+	1	0	CFHR5	195240461	0.001000	0.12720	0.070000	0.20053	0.288000	0.27193	0.884000	0.28214	-0.014000	0.14175	0.402000	0.26972	ACC		0.408	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		35	63	0	0	0	1	0	35	63				
UPK1B	7348	broad.mit.edu	37	3	118909856	118909856	+	Missense_Mutation	SNP	A	A	G	rs147312682		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:118909856A>G	ENST00000264234.3	+	5	522	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V|UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	125					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CCTGAAGCAGATGCTAGAGAG	0.453																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(373-375)Atg>Gtg		uroplakin 1B							336.0	344.0	341.0					3																	118909856		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118909856A>G	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.373A>G	3.37:g.118909856A>G	ENSP00000264234:p.Met125Val					UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V|UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V	p.M125V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	522	+			125					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.373A>G	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997769	0.74818	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	D;D;D;D;T	0.85484	-1.99;-1.99;-1.99;-1.99;-1.18	5.55	5.55	0.83447	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.69823	2.125	0.44073	D	0.996829	D;D	0.76494	0.999;0.979	D;D	0.79108	0.992;0.982	D	0.88998	0.3419	10	0.24483	T	0.36	-21.2224	14.5249	0.67881	1.0:0.0:0.0:0.0	.	117;125	C9J9M7;O75841	.;UPK1B_HUMAN	V	45;125;125;125;117	ENSP00000418972:M45V;ENSP00000264234:M125V;ENSP00000418399:M125V;ENSP00000418597:M125V;ENSP00000418116:M117V	ENSP00000264234:M125V	M	+	1	0	UPK1B	120392546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.906000	0.63293	2.112000	0.64535	0.379000	0.24179	ATG		0.453	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			13	405	0	0	0	1	0	13	405				
PACS1	55690	broad.mit.edu	37	11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C	rs369233658	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796													A|||	11	0.00219649	0.0015	0.0014	5008	,	,		5485	0.005		0.002	False		,,,				2504	0.001					ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(103-105)cAg>cCg		phosphofurin acidic cluster sorting protein 1							2.0	3.0	3.0					11																	65838061		1347	2972	4319	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838061A>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.104A>C	11.37:g.65838061A>C	ENSP00000316454:p.Gln35Pro						p.Q35P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	137	+			35			Gly-rich.|Poly-Gln.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.104A>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.981563	0.00448	.	.	ENSG00000175115	ENST00000320580	T	0.25414	1.8	.	.	.	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.20821	N	0.999845	.	.	.	.	.	.	T	0.19910	-1.0291	5	0.52906	T	0.07	.	.	.	.	.	35;35	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	P	35	ENSP00000316454:Q35P	ENSP00000316454:Q35P	Q	+	2	0	PACS1	65594637	0.213000	0.23551	0.029000	0.17559	0.156000	0.22039	0.616000	0.24344	-1.624000	0.01556	-1.675000	0.00742	CAG		0.796	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	3	0	0	0	1	0	2	3				
ODF2L	57489	broad.mit.edu	37	1	86826179	86826179	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:86826179T>C	ENST00000359242.3	-	12	1465	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G|ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	395						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAGTTCATTTTCAACAGATAC	0.303																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1183-1185)gAa>gGa		outer dense fiber of sperm tails 2-like							91.0	96.0	94.0					1																	86826179		2201	4292	6493	SO:0001583	missense	57489					centrosome		g.chr1:86826179T>C		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1184A>G	1.37:g.86826179T>C	ENSP00000359600:p.Glu395Gly					ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000524695.1_5'UTR	p.E395G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1465	-			395					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1184A>G	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.227840|4.227840	0.79576|0.79576	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890|ENST00000459999	T;T;D;T;T;T;D;T|.	0.81739|.	1.66;1.64;-1.53;1.66;1.71;1.73;-1.53;1.25|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.206630|.	0.49916|.	D|.	0.000133|.	T|T	0.62319|0.62319	0.2418|0.2418	M|M	0.64997|0.64997	1.995|1.995	0.47862|0.47862	D|D	0.999531|0.999531	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.998;0.997;0.994;0.976;0.997;0.999|.	T|T	0.63616|0.63616	-0.6597|-0.6597	10|5	0.54805|.	T|.	0.06|.	-17.7511|-17.7511	13.6468|13.6468	0.62286|0.62286	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	366;366;395;366;366;395|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	G|E	366;366;395;242;395;366;235;366;196|215	ENSP00000359597:E366G;ENSP00000359600:E395G;ENSP00000433092:E242G;ENSP00000320165:E395G;ENSP00000359598:E366G;ENSP00000378219:E235G;ENSP00000294678:E366G;ENSP00000432834:E196G|.	ENSP00000294678:E366G|.	E|K	-|-	2|1	0|0	ODF2L|ODF2L	86598767|86598767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.022000|5.022000	0.64078|0.64078	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	GAA|AAA		0.303	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			13	16	0	0	0	1	0	13	16				
GUCY2F	2986	broad.mit.edu	37	X	108719067	108719067	+	Silent	SNP	C	C	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:108719067C>A	ENST00000218006.2	-	2	390	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	33					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAAGCACCACAGGAACTTGG	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(97-99)ctG>ctT		guanylate cyclase 2F, retinal							91.0	79.0	83.0					X																	108719067		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719067C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.99G>T	X.37:g.108719067C>A			OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.L33L	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	390	-			33					Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.99G>T	CCDS14545.1																																																																																				0.567	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		44	54	1	0	1.62957e-23	1	1.702e-23	44	54				
ZNF518B	85460	broad.mit.edu	37	4	10445618	10445618	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:10445618T>C	ENST00000326756.3	-	3	2773	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTAAGAACCCTCAACACAGCC	0.473																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2335-2337)Agg>Ggg		zinc finger protein 518B							70.0	70.0	70.0					4																	10445618		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445618T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2335A>G	4.37:g.10445618T>C	ENSP00000317614:p.Arg779Gly						p.R779G	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2773	-			779					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2335A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786904	0.49997	.	.	ENSG00000178163	ENST00000326756	T	0.02197	4.4	6.02	4.82	0.62117	.	0.095949	0.44902	D	0.000413	T	0.07593	0.0191	L	0.48642	1.525	0.31886	N	0.617872	D	0.76494	0.999	D	0.66084	0.941	T	0.02070	-1.1219	10	0.87932	D	0	-15.4899	11.3386	0.49520	0.0:0.0:0.152:0.848	.	779	Q9C0D4	Z518B_HUMAN	G	779	ENSP00000317614:R779G	ENSP00000317614:R779G	R	-	1	2	ZNF518B	10054716	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	1.341000	0.33907	1.070000	0.40811	0.533000	0.62120	AGG		0.473	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		20	45	0	0	0	1	0	20	45				
IL1RAPL1	11141	broad.mit.edu	37	X	29414470	29414470	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:29414470A>C	ENST00000378993.1	+	4	1131	c.458A>C	c.(457-459)aAa>aCa	p.K153T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	153	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATTTTGAAAAAGCTGAACTT	0.393																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(457-459)aAa>aCa		interleukin 1 receptor accessory protein-like 1							100.0	94.0	96.0					X																	29414470		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414470A>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.458A>C	X.37:g.29414470A>C	ENSP00000368278:p.Lys153Thr					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			4	1131	+			153			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.458A>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327270	0.60743	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03982	3.74;3.74	5.12	5.12	0.69794	Immunoglobulin subtype (1);	0.054525	0.64402	D	0.000001	T	0.20780	0.0500	M	0.78223	2.4	0.40711	D	0.982575	D	0.76494	0.999	D	0.76071	0.987	T	0.00896	-1.1523	9	.	.	.	.	13.3041	0.60342	1.0:0.0:0.0:0.0	.	153	Q9NZN1	IRPL1_HUMAN	T	153	ENSP00000368278:K153T;ENSP00000305200:K153T	.	K	+	2	0	IL1RAPL1	29324391	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.104000	0.77024	1.804000	0.52760	0.417000	0.27973	AAA		0.393	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		6	97	0	0	0	1	0	6	97				
CTBP1	1487	broad.mit.edu	37	4	1206203	1206203	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:1206203G>A	ENST00000290921.6	-	9	1329	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	CTBP1_ENST00000382952.3_Missense_Mutation_p.P372L	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	383					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CACCACGCCCGGAGGGTACCT	0.721																																						ENST00000382952.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1114-1116)cCg>cTg		C-terminal binding protein 1							13.0	12.0	12.0					4																	1206203		2156	4266	6422	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206203G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1148C>T	4.37:g.1206203G>A	ENSP00000290921:p.Pro383Leu					CTBP1_ENST00000290921.6_Missense_Mutation_p.P383L	p.P372L	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	10	1499	-			383					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1115C>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392268	0.25118	.	.	ENSG00000159692	ENST00000382952;ENST00000290921	D;D	0.82344	-1.59;-1.6	4.15	2.37	0.29283	.	0.061993	0.64402	D	0.000003	T	0.76234	0.3959	L	0.56769	1.78	0.80722	D	1	P;P;P	0.52463	0.953;0.651;0.651	B;B;B	0.38500	0.275;0.068;0.068	T	0.75323	-0.3358	10	0.51188	T	0.08	-12.3854	10.309	0.43697	0.1652:0.0:0.8348:0.0	.	170;383;372	Q6IP95;Q13363;Q7Z2Q5	.;CTBP1_HUMAN;.	L	372;383	ENSP00000372411:P372L;ENSP00000290921:P383L	ENSP00000290921:P383L	P	-	2	0	CTBP1	1196203	1.000000	0.71417	0.066000	0.19879	0.051000	0.14879	5.672000	0.68102	0.733000	0.32492	0.561000	0.74099	CCG		0.721	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		4	2	0	0	0	1	0	4	2				
RET	5979	broad.mit.edu	37	10	43619143	43619143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:43619143G>A	ENST00000355710.3	+	17	3058	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	942	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCCTGCTGTGGGAGATCGTGA	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM001787	RET	M		c.(2824-2826)tgG>tgA		ret proto-oncogene	Sunitinib(DB01268)						132.0	131.0	131.0					10																	43619143		2203	4300	6503	SO:0001587	stop_gained	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619143G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2826G>A	10.37:g.43619143G>A	ENSP00000347942:p.Trp942*					RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3058	+		Ovarian(717;0.0423)	942			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP	ENST00000355710.3	37	c.2826G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	38	6.889983	0.97912	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.33	4.44	0.53790	.	0.055626	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2128	0.82178	0.0:0.1333:0.8667:0.0	.	.	.	.	X	942	.	ENSP00000344798:W942X	W	+	3	0	RET	42939149	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.869000	0.99810	1.271000	0.44313	-0.215000	0.12644	TGG		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		4	170	0	0	0	1	0	4	170				
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59.0	70.0	66.0					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		4	122	0	0	0	1	0	4	122				
RBFOX2	23543	broad.mit.edu	37	22	36177682	36177682	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:36177682G>A	ENST00000438146.2	-	4	573	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RBFOX2_ENST00000397303.2_Missense_Mutation_p.R102C|RBFOX2_ENST00000416721.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R101C|RBFOX2_ENST00000405409.2_Missense_Mutation_p.R122C|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R121C|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R121C	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	131	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						TCCCGGAAGCGGAAAGGAATA	0.448																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(364-366)Cgc>Tgc		RNA binding protein, fox-1 homolog (C. elegans) 2							153.0	162.0	159.0					22																	36177682		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177682G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.574C>T	22.37:g.36177682G>A	ENSP00000413035:p.Arg192Cys					RBFOX2_ENST00000416721.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R121C|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R101C|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R102C|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000438146.2_Missense_Mutation_p.R192C	p.R122C	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			3	732	-			131			RRM.	Interaction with RNA (By similarity).	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.364C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430872	0.83776	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T;T;T	0.74737	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;-0.87;0.93	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.997;0.996;0.996;0.99;0.99;0.994;0.994	D	0.84635	0.0692	10	0.87932	D	0	.	19.6891	0.95991	0.0:0.0:1.0:0.0	.	101;131;191;192;121;121;122;121;121;102	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	C	122;131;121;121;121;102;101;121;192;144;101	ENSP00000384944:R122C;ENSP00000407855:R121C;ENSP00000391670:R121C;ENSP00000262829:R121C;ENSP00000380470:R102C;ENSP00000352328:R101C;ENSP00000405651:R121C;ENSP00000413035:R192C;ENSP00000386177:R144C;ENSP00000380472:R101C	ENSP00000262829:R121C	R	-	1	0	RBFOX2	34507628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.914000	0.48797	2.641000	0.89580	0.650000	0.86243	CGC		0.448	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			5	267	0	0	0	1	0	5	267				
TMEM86A	144110	broad.mit.edu	37	11	18723300	18723300	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:18723300T>G	ENST00000280734.2	+	3	563	c.467T>G	c.(466-468)tTc>tGc	p.F156C		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	156						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTTATCGGCTTCATGGGCTGG	0.627																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(466-468)tTc>tGc		transmembrane protein 86A							60.0	56.0	57.0					11																	18723300		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723300T>G	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.467T>G	11.37:g.18723300T>G	ENSP00000280734:p.Phe156Cys						p.F156C	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	563	+			156					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.467T>G	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534656	0.64972	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.22539	1.95	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.39566	1.225	0.58432	D	0.999995	D	0.76494	0.999	D	0.68192	0.956	T	0.02398	-1.1165	9	.	.	.	-24.128	10.0268	0.42076	0.0:0.0744:0.0:0.9256	.	156	Q8N2M4	TM86A_HUMAN	C	156	ENSP00000280734:F156C	.	F	+	2	0	TMEM86A	18679876	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.512000	0.81728	2.279000	0.76181	0.533000	0.62120	TTC		0.627	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		13	19	0	0	0	1	0	13	19				
EP300	2033	broad.mit.edu	37	22	41513608	41513608	+	Missense_Mutation	SNP	C	C	T	rs533349187		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:41513608C>T	ENST00000263253.7	+	2	1731	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	171					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGATGAATGCGGGCATGAAT	0.502			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		24740	0.0		0.0	False		,,,				2504	0.0					ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(511-513)gCg>gTg		E1A binding protein p300							106.0	87.0	93.0					22																	41513608		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513608C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.512C>T	22.37:g.41513608C>T	ENSP00000263253:p.Ala171Val						p.A171V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1731	+			171					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.512C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582514	0.86748	.	.	ENSG00000100393	ENST00000263253	D	0.83992	-1.79	6.17	5.13	0.70059	.	0.000000	0.48286	D	0.000193	D	0.86331	0.5907	L	0.58101	1.795	0.45025	D	0.998042	D	0.69078	0.997	P	0.58620	0.842	D	0.84708	0.0732	10	0.30854	T	0.27	-9.0902	12.9243	0.58252	0.0:0.9216:0.0:0.0784	.	171	Q09472	EP300_HUMAN	V	171	ENSP00000263253:A171V	ENSP00000263253:A171V	A	+	2	0	EP300	39843554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.508000	0.53378	1.534000	0.49203	-0.345000	0.07892	GCG		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		3	50	0	0	0	1	0	3	50				
NEK1	4750	broad.mit.edu	37	4	170476964	170476964	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:170476964C>T	ENST00000439128.2	-	17	2109	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000512193.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	490					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTGCAGCCCCATAAGGAAA	0.413																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1468-1470)gGg>gAg		NIMA-related kinase 1							105.0	99.0	101.0					4																	170476964		1853	4102	5955	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170476964C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1469G>A	4.37:g.170476964C>T	ENSP00000408020:p.Gly490Glu					NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron	p.G490E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	17	2109	-		Prostate(90;0.00601)|Renal(120;0.0183)	490					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1469G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920106	0.33908	.	.	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.68479	-0.33;-0.32	5.67	3.94	0.45596	.	0.000000	0.56097	D	0.000039	T	0.50188	0.1601	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29085	0.015;0.232;0.149	B;B;B	0.31442	0.009;0.13;0.061	T	0.35525	-0.9785	10	0.24483	T	0.36	.	9.9124	0.41415	0.0:0.7889:0.0:0.2111	.	490;490;490	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	E	490	ENSP00000408020:G490E;ENSP00000424757:G490E	ENSP00000408020:G490E	G	-	2	0	NEK1	170713539	1.000000	0.71417	0.985000	0.45067	0.701000	0.40568	2.756000	0.47549	0.743000	0.32719	-0.229000	0.12294	GGG		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			21	47	0	0	0	1	0	21	47				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	50	0	0	0	1	0	7	50				
OR2M3	127062	broad.mit.edu	37	1	248366669	248366669	+	Silent	SNP	A	A	G	rs200425194		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:248366669A>G	ENST00000456743.1	+	1	338	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGCCACACAAATTTTCTTCT	0.488																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(298-300)caA>caG		olfactory receptor, family 2, subfamily M, member 3							265.0	269.0	268.0					1																	248366669		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366669A>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.300A>G	1.37:g.248366669A>G							p.Q100Q	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	338	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		100					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.300A>G	CCDS31107.1																																																																																				0.488	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		35	290	0	0	0	1	0	35	290				
CHD9	80205	broad.mit.edu	37	16	53276924	53276924	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr16:53276924A>G	ENST00000398510.3	+	12	3137	c.3050A>G	c.(3049-3051)aAt>aGt	p.N1017S	CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S|CHD9_ENST00000566029.1_Missense_Mutation_p.N1017S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1017	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAACTCATGAATCTGGTAAGT	0.279																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3049-3051)aAt>aGt		chromodomain helicase DNA binding protein 9							71.0	70.0	71.0					16																	53276924		1809	4071	5880	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53276924A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3050A>G	16.37:g.53276924A>G	ENSP00000381522:p.Asn1017Ser					CHD9_ENST00000398510.3_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S	p.N1017S			Q3L8U1	CHD9_HUMAN			13	3259	+		all_cancers(37;0.0212)	1017			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3050A>G		.	.	.	.	.	.	.	.	.	.	A	14.39	2.520726	0.44866	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.92249	-3.0;-3.0	5.4	5.4	0.78164	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000025	D	0.84611	0.5510	N	0.11724	0.165	0.58432	D	0.999997	B;B;P;P	0.38420	0.008;0.198;0.63;0.577	B;B;B;B	0.36922	0.023;0.236;0.191;0.121	D	0.84786	0.0776	10	0.31617	T	0.26	-23.2022	15.7172	0.77677	1.0:0.0:0.0:0.0	.	543;1017;1017;1017	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1017;1017;543	ENSP00000396345:N1017S;ENSP00000381522:N1017S	ENSP00000219084:N543S	N	+	2	0	CHD9	51834425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.170000	0.68504	0.460000	0.39030	AAT		0.279	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	57	0	0	0	1	0	3	57				
CPZ	8532	broad.mit.edu	37	4	8616093	8616093	+	Silent	SNP	C	C	T	rs574133810	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:8616093C>T	ENST00000360986.4	+	9	1545	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	CPZ_ENST00000315782.6_Silent_p.S446S|CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000429646.2_Silent_p.S65S	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	457					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCATGTCCGATTTCAACT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.002					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(193-195)tcC>tcT		carboxypeptidase Z							132.0	116.0	121.0					4																	8616093		2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616093C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1371C>T	4.37:g.8616093C>T						CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000315782.6_Silent_p.S446S|CPZ_ENST00000360986.4_Silent_p.S457S	p.S65S			Q66K79	CBPZ_HUMAN			7	2988	+			457			FZ.		O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.195C>T	CCDS33953.1																																																																																				0.612	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		33	29	0	0	0	1	0	33	29				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	37	0	0	0	1	0	17	37				
KCNAB1	7881	broad.mit.edu	37	3	155860969	155860969	+	Intron	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:155860969T>C	ENST00000490337.1	+	1	339				KCNAB1_ENST00000471742.1_Start_Codon_SNP_p.M1T|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTGAAACATGCATCTGTAT	0.458																																						ENST00000471742.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1-3)aTg>aCg		potassium voltage-gated channel, shaker-related subfamily, beta member 1							70.0	70.0	70.0					3																	155860969		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155860969T>C	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22294T>C	3.37:g.155860969T>C						KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	p.M1T	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	219	+			0					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Translation_Start_Site	SNP	ENST00000490337.1	37	c.2T>C	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568300	0.45798	.	.	ENSG00000169282	ENST00000471742	T	0.06768	3.26	5.17	5.17	0.71159	.	.	.	.	.	T	0.22399	0.0540	.	.	.	0.80722	D	1	P	0.43662	0.814	P	0.55345	0.774	T	0.00229	-1.1898	8	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.0:1.0	.	1	Q14722-3	.	T	1	ENSP00000418956:M1T	ENSP00000418956:M1T	M	+	2	0	KCNAB1	157343663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.216000	0.65246	2.073000	0.62155	0.459000	0.35465	ATG		0.458	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		9	16	0	0	0	1	0	9	16				
OLFM4	10562	broad.mit.edu	37	13	53603147	53603147	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr13:53603147G>A	ENST00000219022.2	+	1	254	c.176G>A	c.(175-177)aGc>aAc	p.S59N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	59	Ser-rich.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		tccagccgcagcTTAGGCAGC	0.572																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(175-177)aGc>aAc		olfactomedin 4							55.0	62.0	60.0					13																	53603147		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53603147G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.176G>A	13.37:g.53603147G>A	ENSP00000219022:p.Ser59Asn						p.S59N	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	254	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	59			Ser-rich.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.176G>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	7.996	0.754303	0.15778	.	.	ENSG00000102837	ENST00000219022	D	0.91011	-2.77	3.77	0.718	0.18202	.	5.424620	0.00447	N	0.000099	T	0.78059	0.4224	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.66984	-0.5785	10	0.17369	T	0.5	.	1.2493	0.01979	0.1327:0.1805:0.3915:0.2953	.	59	Q6UX06	OLFM4_HUMAN	N	59	ENSP00000219022:S59N	ENSP00000219022:S59N	S	+	2	0	OLFM4	52501148	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.270000	0.08584	0.096000	0.17463	0.467000	0.42956	AGC		0.572	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		27	72	0	0	0	1	0	27	72				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	101	0	0	0	1	0	3	101				
ATP10B	23120	broad.mit.edu	37	5	160061405	160061405	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:160061405C>T	ENST00000327245.5	-	12	2183	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCAACGTCGGAACACCAT	0.502																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1336-1338)cGa>cAa		ATPase, class V, type 10B							130.0	130.0	130.0					5																	160061405		1964	4153	6117	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061405C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1337G>A	5.37:g.160061405C>T	ENSP00000313600:p.Arg446Gln					CTC-348L5.1_ENST00000523598.1_RNA	p.R446Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2183	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	446					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1337G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420891	0.83559	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.45668	0.89;0.89	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	L	0.48260	1.515	0.51482	D	0.999928	D;D;D;D;D	0.89917	1.0;0.965;1.0;1.0;1.0	D;P;D;D;D	0.77004	0.981;0.767;0.989;0.985;0.973	T	0.53655	-0.8408	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	490;446;418;54;446	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	Q	446;54	ENSP00000313600:R446Q;ENSP00000431081:R54Q	.	R	-	2	0	ATP10B	159993983	1.000000	0.71417	0.182000	0.23118	0.902000	0.53008	5.966000	0.70395	2.605000	0.88082	0.655000	0.94253	CGA		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		24	78	0	0	0	1	0	24	78				
PRUNE2	158471	broad.mit.edu	37	9	79322596	79322596	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:79322596C>T	ENST00000376718.3	-	8	4717	c.4594G>A	c.(4594-4596)Gac>Aac	p.D1532N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1173N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1532					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTATCTCTGTCAAAATTTCCA	0.448																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3517-3519)Gac>Aac		prune homolog 2 (Drosophila)							55.0	50.0	52.0					9																	79322596		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322596C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4594G>A	9.37:g.79322596C>T	ENSP00000365908:p.Asp1532Asn					PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1532N	p.D1173N			Q8WUY3	PRUN2_HUMAN			8	4717	-			1532					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3517G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	1.239	-0.621942	0.03636	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.53423	0.62;0.63	5.91	5.01	0.66863	.	0.913555	0.09291	N	0.822229	T	0.44030	0.1274	L	0.47716	1.5	0.39417	D	0.966848	P	0.43094	0.799	B	0.35859	0.212	T	0.46091	-0.9216	10	0.87932	D	0	-2.2402	14.4171	0.67158	0.0:0.8436:0.1564:0.0	.	1532	Q8WUY3	PRUN2_HUMAN	N	1532;1173;1531	ENSP00000365908:D1532N;ENSP00000397425:D1173N	ENSP00000365908:D1532N	D	-	1	0	PRUNE2	78512416	0.847000	0.29606	0.012000	0.15200	0.002000	0.02628	2.474000	0.45154	1.491000	0.48482	0.655000	0.94253	GAC		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	11	0	0	0	1	0	4	11				
WDR31	114987	broad.mit.edu	37	9	116080790	116080790	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:116080790T>A	ENST00000374193.4	-	10	1154	c.908A>T	c.(907-909)gAt>gTt	p.D303V	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000341761.4_Missense_Mutation_p.D302V	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	303										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CACCTTGCAATCATGTGATGA	0.423																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(907-909)gAt>gTt		WD repeat domain 31							172.0	150.0	157.0					9																	116080790		2203	4300	6503	SO:0001583	missense	114987							g.chr9:116080790T>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.908A>T	9.37:g.116080790T>A	ENSP00000363308:p.Asp303Val					WDR31_ENST00000341761.4_Missense_Mutation_p.D302V|WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000461942.1_5'UTR	p.D303V	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			10	1154	-			303					Q5W0T9|Q96EG8	Missense_Mutation	SNP	ENST00000374193.4	37	c.908A>T	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872564	0.91587	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761	D;D;D	0.89415	-2.51;-2.51;-2.51	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	-16.9289	15.7575	0.78046	0.0:0.0:0.0:1.0	.	303;302	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	V	303;178;302	ENSP00000363308:D303V;ENSP00000363310:D178V;ENSP00000345027:D302V	ENSP00000345027:D302V	D	-	2	0	WDR31	115120611	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.774000	0.75012	2.317000	0.78254	0.459000	0.35465	GAT		0.423	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		16	73	0	0	0	1	0	16	73				
RHOT1	55288	broad.mit.edu	37	17	30534025	30534025	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:30534025G>A	ENST00000333942.6	+	17	1752	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K|RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K|RHOT1_ENST00000358365.3_Missense_Mutation_p.E505K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	505	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E505Q(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAAATCCTTTGAATACTGTGC	0.373																																						ENST00000358365.3																			1	Substitution - Missense(1)	p.E505Q(1)	urinary_tract(1)	NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1513-1515)Gaa>Aaa		ras homolog family member T1							187.0	173.0	177.0					17																	30534025		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30534025G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1513G>A	17.37:g.30534025G>A	ENSP00000334724:p.Glu505Lys					RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E505K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K	p.E505K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			17	1740	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	505			Miro 2.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1513G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751782	0.69533	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.68624	-0.34;-0.34;-0.34	5.66	5.66	0.87406	Mitochondrial Rho-like (1);MIRO (1);	0.043425	0.85682	D	0.000000	T	0.64249	0.2581	L	0.39085	1.19	0.80722	D	1	B;B;B;P	0.39940	0.337;0.302;0.217;0.696	B;B;B;B	0.43155	0.133;0.41;0.098;0.283	T	0.60316	-0.7287	10	0.30078	T	0.28	-16.9028	19.7529	0.96275	0.0:0.0:1.0:0.0	.	505;505;505;505	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	K	505	ENSP00000351132:E505K;ENSP00000378184:E505K;ENSP00000334724:E505K	ENSP00000334724:E505K	E	+	1	0	RHOT1	27558138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.668000	0.90789	0.460000	0.39030	GAA		0.373	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		37	75	0	0	0	1	0	37	75				
SHROOM4	57477	broad.mit.edu	37	X	50377747	50377747	+	Silent	SNP	C	C	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:50377747C>A	ENST00000289292.7	-	4	1609	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	SHROOM4_ENST00000460112.3_Silent_p.G326G|SHROOM4_ENST00000376020.2_Silent_p.G442G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	442					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCACTGGTGCCCATCCTGTA	0.577																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1324-1326)ggG>ggT		shroom family member 4							66.0	54.0	58.0					X																	50377747		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377747C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1326G>T	X.37:g.50377747C>A						SHROOM4_ENST00000289292.7_Silent_p.G442G|SHROOM4_ENST00000460112.3_Silent_p.G326G	p.G442G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1351	-	Ovarian(276;0.236)		442					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.1326G>T	CCDS35277.1																																																																																				0.577	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		19	35	1	0	8.34094e-07	1	8.34094e-07	19	35				
ARHGEF15	22899	broad.mit.edu	37	17	8215685	8215685	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:8215685C>T	ENST00000361926.3	+	2	438	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672																																						ENST00000361926.3																			1	Substitution - Missense(1)	p.P110T(1)	lung(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(328-330)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 15							95.0	103.0	100.0					17																	8215685		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215685C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.328C>T	17.37:g.8215685C>T	ENSP00000355026:p.Pro110Ser					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	438	+			110			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.328C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144756	0.21288	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81078	-1.45;-1.45	4.85	4.85	0.62838	.	0.482977	0.17170	N	0.184335	D	0.82944	0.5147	L	0.27053	0.805	0.26775	N	0.969725	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.75434	-0.3319	10	0.56958	D	0.05	-10.294	13.3958	0.60851	0.0:1.0:0.0:0.0	.	110;110	D3DTR7;O94989	.;ARHGF_HUMAN	S	110	ENSP00000355026:P110S;ENSP00000412505:P110S	ENSP00000355026:P110S	P	+	1	0	ARHGEF15	8156410	0.999000	0.42202	1.000000	0.80357	0.362000	0.29581	3.576000	0.53878	2.549000	0.85964	0.555000	0.69702	CCA		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		4	158	0	0	0	1	0	4	158				
PRPF19	27339	broad.mit.edu	37	11	60665317	60665317	+	Splice_Site	SNP	C	C	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:60665317C>G	ENST00000227524.4	-	15	1623		c.e15+1			NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGCCTCTACCTGTAAAGTG	0.527																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.e15+1		pre-mRNA processing factor 19							90.0	98.0	96.0					11																	60665317		2203	4299	6502	SO:0001630	splice_region_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665317C>G	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1417+1G>C	11.37:g.60665317C>G								NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			15	1623	-									Splice_Site	SNP	ENST00000227524.4	37		CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423764	0.83667	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.687	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPF19	60421893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.258000	0.78371	2.570000	0.86706	0.650000	0.86243	.		0.527	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	Intron	3	92	0	0	0	1	0	3	92				
CYP4F11	57834	broad.mit.edu	37	19	16040277	16040277	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:16040277G>A	ENST00000402119.4	-	2	759	c.333C>T	c.(331-333)acC>acT	p.T111T	CYP4F11_ENST00000248041.8_Silent_p.T111T|CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000326742.8_Silent_p.T111T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGAGGCACTGGTGATAGGCC	0.582																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(331-333)acC>acT		cytochrome P450, family 4, subfamily F, polypeptide 11							133.0	135.0	134.0					19																	16040277		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040277G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.333C>T	19.37:g.16040277G>A						CYP4F11_ENST00000248041.7_Silent_p.T111T|CYP4F11_ENST00000402119.3_Silent_p.T111T	p.T111T			Q9HBI6	CP4FB_HUMAN			2	334	-			111						Silent	SNP	ENST00000402119.4	37	c.333C>T	CCDS12337.1																																																																																				0.582	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		61	101	0	0	0	1	0	61	101				
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A	rs575501301		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		20027	0.0		0.0	False		,,,				2504	0.001					ENST00000507866.2																			1	Substitution - coding silent(1)	p.T39T(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(565-567)acG>acA		sortilin-related VPS10 domain containing receptor 2							88.0	101.0	97.0					4																	7533275		2111	4203	6314	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7533275G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.567G>A	4.37:g.7533275G>A						SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR	p.T189T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			3	676	+			189					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.567G>A	CCDS47008.1																																																																																				0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	13	0	0	0	1	0	7	13				
PSMA2	5683	broad.mit.edu	37	7	42966160	42966160	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr7:42966160A>G	ENST00000223321.4	-	3	290	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	PSMA2_ENST00000442788.1_Missense_Mutation_p.Y76H|PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGCCACTGTACACCAAACCT	0.373																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(226-228)Tac>Cac		proteasome (prosome, macropain) subunit, alpha type, 2							170.0	146.0	154.0					7																	42966160		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42966160A>G	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.226T>C	7.37:g.42966160A>G	ENSP00000223321:p.Tyr76His					PSMA2_ENST00000223321.4_Missense_Mutation_p.Y76H|PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR	p.Y76H			P25787	PSA2_HUMAN			3	241	-			76					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.226T>C	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802747	0.90623	.	.	ENSG00000106588	ENST00000223321	T	0.23147	1.92	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	H	0.94222	3.51	0.80722	D	1	D	0.55605	0.972	D	0.79108	0.992	T	0.73789	-0.3872	10	0.59425	D	0.04	.	16.1205	0.81351	1.0:0.0:0.0:0.0	.	76	P25787	PSA2_HUMAN	H	76	ENSP00000223321:Y76H	ENSP00000223321:Y76H	Y	-	1	0	PSMA2	42932685	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.228000	0.95250	2.205000	0.71048	0.533000	0.62120	TAC		0.373	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		3	45	0	0	0	1	0	3	45				
SNHG14	104472715	broad.mit.edu	37	15	25475834	25475834	+	RNA	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr15:25475834G>A	ENST00000453082.2	+	0	1429				SNORD115-33_ENST00000363723.1_RNA|SNORD115-32_ENST00000364079.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GACTTCTGTCGGCCTCGCTTT	0.617																																						ENST00000453082.2																			0																																																			0							g.chr15:25475834G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475834G>A								NR_003343.1						0	1429	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.617	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	24	0	0	0	1	0	3	24				
WDR66	144406	broad.mit.edu	37	12	122396945	122396945	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:122396945G>T	ENST00000288912.4	+	13	2932	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	693							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAATATTCCAGAACCAGTGTG	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2077-2079)aGa>aTa		WD repeat domain 66							172.0	160.0	164.0					12																	122396945		1833	4087	5920	SO:0001583	missense	144406						calcium ion binding	g.chr12:122396945G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2078G>T	12.37:g.122396945G>T	ENSP00000288912:p.Arg693Ile					WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	13	2932	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		693					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2078G>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556057	0.65425	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63417	1.01;-0.04	4.87	0.858	0.19030	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.325727	0.34700	N	0.003741	T	0.61476	0.2350	M	0.68317	2.08	0.40100	D	0.976367	P	0.37141	0.584	B	0.43623	0.425	T	0.63260	-0.6677	10	0.72032	D	0.01	.	8.5871	0.33664	0.4218:0.0:0.5782:0.0	.	693	Q8TBY9	WDR66_HUMAN	I	693	ENSP00000288912:R693I;ENSP00000380595:R693I	ENSP00000288912:R693I	R	+	2	0	WDR66	120881328	0.906000	0.30813	0.274000	0.24659	0.979000	0.70002	0.890000	0.28295	0.430000	0.26230	0.491000	0.48974	AGA		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		8	152	1	0	1.06961e-07	1	1.09287e-07	8	152				
ETNPPL	64850	broad.mit.edu	37	4	109675776	109675776	+	Splice_Site	SNP	C	C	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:109675776C>G	ENST00000296486.3	-	5	655	c.501G>C	c.(499-501)gtG>gtC	p.V167V	ETNPPL_ENST00000411864.2_Splice_Site_p.V161V|ETNPPL_ENST00000510706.1_Splice_Site_p.V127V|ETNPPL_ENST00000512646.1_Splice_Site_p.V109V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	167						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGACACTTACCACATGTACAA	0.348																																						ENST00000296486.3																			0											c.e5+1		ethanolamine-phosphate phospho-lyase							102.0	100.0	100.0					4																	109675776		2203	4299	6502	SO:0001630	splice_region_variant	64850							g.chr4:109675776C>G	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.501+1G>C	4.37:g.109675776C>G						ETNPPL_ENST00000411864.2_Splice_Site_p.V161_splice|ETNPPL_ENST00000512646.1_Splice_Site_p.V109_splice|ETNPPL_ENST00000510706.1_Splice_Site_p.V127_splice	p.V167_splice	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					5	655	-								B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP	ENST00000296486.3	37	c.501_splice	CCDS3682.1																																																																																				0.348	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	Silent	9	26	0	0	0	1	0	9	26				
COL6A2	1292	broad.mit.edu	37	21	47545900	47545900	+	Missense_Mutation	SNP	G	G	A	rs145450812		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr21:47545900G>A	ENST00000300527.4	+	26	2275	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	724	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> C. {ECO:0000269|PubMed:15689448}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGAAGACACGTGTGTTTGCG	0.642																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2170-2172)cGt>cAt		collagen, type VI, alpha 2							76.0	74.0	75.0					21																	47545900		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545900G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2171G>A	21.37:g.47545900G>A	ENSP00000300527:p.Arg724His					COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H	p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2275	+	Breast(49;0.245)		724		R -> C.	Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2171G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917649	0.33815	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	4.05	2.16	0.27623	von Willebrand factor, type A (3);	0.421976	0.24094	N	0.041618	T	0.81351	0.4804	L	0.43923	1.385	0.25069	N	0.99101	D;D;D	0.71674	0.998;0.957;0.957	P;B;B	0.55260	0.772;0.205;0.205	T	0.71407	-0.4602	10	0.87932	D	0	-16.0833	6.96	0.24591	0.3463:0.0:0.6537:0.0	.	724;724;724	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	724	ENSP00000300527:R724H;ENSP00000350497:R724H;ENSP00000312529:R724H;ENSP00000387115:R724H;ENSP00000380870:R724H	ENSP00000300527:R724H	R	+	2	0	COL6A2	46370328	0.703000	0.27826	0.986000	0.45419	0.402000	0.30811	2.812000	0.47994	1.808000	0.52836	0.491000	0.48974	CGT		0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			15	61	0	0	0	1	0	15	61				
IKBKG	8517	broad.mit.edu	37	X	153780226	153780226	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:153780226G>A	ENST00000369606.4	+	2	463	c.9G>A	c.(7-9)agG>agA	p.R3R	IKBKG_ENST00000369601.3_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000393549.2_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000369607.1_Silent_p.R3R|IKBKG_ENST00000369609.5_Silent_p.R71R	NM_001099857.1	NP_001093327.1	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	3					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of neuron death (GO:1901215)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGATGAATAGGCACCTCTGGA	0.577																																						ENST00000393549.2																			0				endometrium(1)|lung(1)	2						c.(7-9)agG>agA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma							111.0	111.0	111.0					X																	153780226		2203	4300	6503	SO:0001819	synonymous_variant	8517				activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity	g.chrX:153780226G>A	AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"""Zinc fingers, C2HC-type containing"""	5961	protein-coding gene	gene with protein product		300248	"""incontinentia pigmenti"""	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369606.4:c.9G>A	X.37:g.153780226G>A						IKBKG_ENST00000369606.4_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000369609.5_Silent_p.R71R|IKBKG_ENST00000369607.1_Silent_p.R3R|IKBKG_ENST00000369601.3_Silent_p.R3R	p.R3R			Q9Y6K9	NEMO_HUMAN			2	132	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		3					Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369606.4	37	c.9G>A	CCDS14757.1																																																																																				0.577	IKBKG-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061156.2	NM_003639		12	177	0	0	0	1	0	12	177				
KDR	3791	broad.mit.edu	37	4	55984889	55984889	+	Silent	SNP	G	G	A	rs141577956	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:55984889G>A	ENST00000263923.4	-	3	535	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	80	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCATCGCTGCACTCAG	0.502			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			G|||	5	0.000998403	0.0	0.0	5008	,	,		15856	0.0		0.002	False		,,,				2504	0.0031					ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(238-240)agC>agT		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)	G		0,4406		0,0,2203	126.0	117.0	120.0		240	-7.4	0.5	4	dbSNP_134	120	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	KDR	NM_002253.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		80/1357	55984889	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984889G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.240C>T	4.37:g.55984889G>A		TSP Lung(20;0.16)					p.S80S	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	535	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		80			Ig-like C2-type 1.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.240C>T	CCDS3497.1																																																																																				0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			11	49	0	0	0	1	0	11	49				
LRP2	4036	broad.mit.edu	37	2	170027173	170027173	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:170027173G>A	ENST00000263816.3	-	59	11553	c.11268C>T	c.(11266-11268)ccC>ccT	p.P3756P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3756	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCACTCCCGGGGAGCTGGAA	0.552																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11266-11268)ccC>ccT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						107.0	93.0	98.0					2																	170027173		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170027173G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11268C>T	2.37:g.170027173G>A							p.P3756P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11553	-			3756			LDL-receptor class A 31.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11268C>T	CCDS2232.1																																																																																				0.552	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	38	0	0	0	1	0	29	38				
LINC00359	100887754	broad.mit.edu	37	13	97600364	97600364	+	lincRNA	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr13:97600364C>T	ENST00000442322.1	-	0	153				RN7SKP7_ENST00000410540.1_RNA|RP11-65L19.4_ENST00000606096.1_lincRNA					long intergenic non-protein coding RNA 359																		CTTCTTTTTCCAAGTATATAC	0.403																																						ENST00000442322.1																			0																																																			0							g.chr13:97600364C>T			13q32.1	2013-06-03			ENSG00000243300	ENSG00000243300		"""Long non-coding RNAs"""	42679	non-coding RNA	RNA, long non-coding							Standard	NR_051966		Approved		uc031qmy.1		OTTHUMG00000185759		13.37:g.97600364C>T														0	153	-									RNA	SNP	ENST00000442322.1	37																																																																																						0.403	LINC00359-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000471175.1			5	6	0	0	0	1	0	5	6				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			4	105	0	0	0	1	0	4	105				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	58	0	0	0	1	0	6	58				
SLC30A6	55676	broad.mit.edu	37	2	32445757	32445757	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:32445757A>G	ENST00000282587.5	+	14	1398	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	454				N -> S (in Ref. 5; AAH66903). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAACTAATAATAGAATTGGA	0.353																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)aAt>aGt		solute carrier family 30 (zinc transporter), member 6							40.0	42.0	41.0					2																	32445757		2177	4289	6466	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32445757A>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1361A>G	2.37:g.32445757A>G	ENSP00000282587:p.Asn454Ser					SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S	p.N454S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			14	1398	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		454	N -> S (in Ref. 4; AAH66903).				A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.1361A>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	7.134	0.580478	0.13686	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.77098	-1.07;-1.06	5.58	-2.19	0.07015	.	0.470245	0.22591	N	0.058090	T	0.53610	0.1807	N	0.19112	0.55	0.24605	N	0.99375	B;B;B;B	0.16396	0.01;0.017;0.001;0.01	B;B;B;B	0.14578	0.005;0.011;0.003;0.005	T	0.39272	-0.9622	10	0.11182	T	0.66	-9.1899	7.3477	0.26672	0.3359:0.2588:0.4054:0.0	.	425;431;494;454	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	S	494;454;431;425;257;380	ENSP00000282587:N454S;ENSP00000440678:N425S	ENSP00000282587:N454S	N	+	2	0	SLC30A6	32299261	0.917000	0.31117	0.742000	0.31022	0.868000	0.49771	0.144000	0.16135	-0.023000	0.13963	-0.462000	0.05337	AAT		0.353	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			5	48	0	0	0	1	0	5	48				
FUBP1	8880	broad.mit.edu	37	1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:78433848_78433851delCAGT	ENST00000370768.2	-	3	329_332	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs|FUBP1_ENST00000370767.1_Splice_Site_p.DC83fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e3+1		far upstream element (FUSE) binding protein 1																																				SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78433848_78433851delCAGT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.250+1ACTG>-	1.37:g.78433848_78433851delCAGT						FUBP1_ENST00000370768.2_Splice_Site_p.83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.104_splice	p.83_splice			Q96AE4	FUBP1_HUMAN			3	335_338	-			83					Q12828	Splice_Site	DEL	ENST00000370768.2	37	c.250_splice	CCDS683.1																																																																																				0.319	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Frame_Shift_Del	16	16						16	16	---	---	---	---
EXOG	9941	broad.mit.edu	37	3	38548446	38548449	+	Frame_Shift_Del	DEL	TAGT	TAGT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:38548446_38548449delTAGT	ENST00000287675.5	+	5	728_731	c.632_635delTAGT	c.(631-636)atagttfs	p.IV211fs	Y_RNA_ENST00000384781.1_RNA|EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	211					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAAAGAAAATAGTTAGTTACCAG	0.353																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(631-636)atfs		endo/exonuclease (5'-3'), endonuclease G-like																																				SO:0001589	frameshift_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38548446_38548449delTAGT	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.632_635delTAGT	3.37:g.38548450_38548453delTAGT	ENSP00000287675:p.Ile211fs					EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	p.IV211fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			5	728_731	+			211					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Frame_Shift_Del	DEL	ENST00000287675.5	37	c.632_635delTAGT	CCDS2680.1																																																																																				0.353	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		11	46						11	46	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37154027	37154030	+	Frame_Shift_Del	DEL	ATAG	ATAG	-	rs375897633		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:37154027_37154030delATAG	ENST00000508244.1	-	40	8116_8119	c.8023_8026delCTAT	c.(8023-8028)ctattgfs	p.LL2675fs	C5orf42_ENST00000274258.7_Frame_Shift_Del_p.LL1573fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2675						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGTTTCCACAATAGATAATCTTCT	0.431																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4717-4722)tgfs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37154027_37154030delATAG		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8023_8026delCTAT	5.37:g.37154027_37154030delATAG	ENSP00000421690:p.Leu2675fs					C5orf42_ENST00000508244.1_Frame_Shift_Del_p.LL2675fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs	p.LL1573fs			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		41	8304_8307	-	all_lung(31;0.000616)		2675					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Del	DEL	ENST00000508244.1	37	c.4717_4720delCTAT	CCDS34146.2																																																																																				0.431	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		23	53						23	53	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	6						3	6	---	---	---	---
ADAT2	134637	broad.mit.edu	37	6	143771733	143771735	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:143771733_143771735delCTC	ENST00000237283.8	-	1	75_77	c.61_63delGAG	c.(61-63)gagdel	p.E21del	RNA5SP221_ENST00000411271.1_RNA|ADAT2_ENST00000367593.1_5'UTR|PEX3_ENST00000367591.4_5'Flank	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	21					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACTTTTCGGTCTCCTCTGCCGAC	0.665																																						ENST00000237283.8																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(61-63)del		adenosine deaminase, tRNA-specific 2																																				SO:0001651	inframe_deletion	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143771733_143771735delCTC	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.61_63delGAG	6.37:g.143771736_143771738delCTC	ENSP00000237283:p.Glu21del					ADAT2_ENST00000367593.1_5'UTR	p.E21del	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	1	75_77	-			21					A6NL12|B3KWY3|Q7Z327|Q8IY39	In_Frame_Del	DEL	ENST00000237283.8	37	c.61_63delGAG	CCDS43511.1																																																																																				0.665	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		43	177						43	177	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001374	150001376	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:150001374_150001376delGAA	ENST00000543571.1	-	5	2775_2777	c.2228_2230delTTC	c.(2227-2232)cttcga>cga	p.L743del	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.L743del	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTTGATTTCGAAGAAGAACATC	0.384																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2227-2232)cga>c		large tumor suppressor kinase 1																																				SO:0001651	inframe_deletion	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001374_150001376delGAA	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2228_2230delTTC	6.37:g.150001380_150001382delGAA	ENSP00000437550:p.Leu743del					LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.LR743del	p.LR743del	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2775_2777	-		Ovarian(120;0.0164)	743			Protein kinase.			In_Frame_Del	DEL	ENST00000543571.1	37	c.2228_2230delTTC	CCDS34551.1																																																																																				0.384	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		23	112						23	112	---	---	---	---
FAM84B	157638	broad.mit.edu	37	8	127568724	127568726	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr8:127568724_127568726delTCC	ENST00000304916.3	-	2	1364_1366	c.909_911delGGA	c.(907-912)gaggac>gac	p.E303del	RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	303						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCCTCTCCGTCCTCCTCCTCGG	0.7																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(907-912)gac>ga		family with sequence similarity 84, member B																																				SO:0001651	inframe_deletion	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127568724_127568726delTCC	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.909_911delGGA	8.37:g.127568730_127568732delTCC	ENSP00000302578:p.Glu303del						p.ED303del	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	1364_1366	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		303						In_Frame_Del	DEL	ENST00000304916.3	37	c.909_911delGGA	CCDS6358.1																																																																																				0.700	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		2	4						2	4	---	---	---	---
RPLP0P2	113157	broad.mit.edu	37	11	61405251	61405252	+	RNA	INS	-	-	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:61405251_61405252insA	ENST00000496593.1	+	0	1855_1856					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		agaaagaaaagaaaaaaaaaat	0.366																																						ENST00000496593.1																			0																																																			0							g.chr11:61405251_61405252insA	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405261_61405261dupA								NR_002775.2						0	1855_1856	+									RNA	INS	ENST00000496593.1	37																																																																																						0.366	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		2	4						2	4	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113704275	113704276	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:113704275_113704276delTT	ENST00000003302.4	-	7	693_694	c.625_626delAA	c.(625-627)aagfs	p.K209fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	209	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATTTCTCTTTTCCTGTAGA	0.332																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(625-627)gfs		ubiquitin specific peptidase 28																																				SO:0001589	frameshift_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704275_113704276delTT	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.625_626delAA	11.37:g.113704277_113704278delTT	ENSP00000003302:p.Lys209fs					USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs|USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000542033.1_5'UTR	p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	693_694	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	209					B0YJC0|B0YJC1|Q9P213	Frame_Shift_Del	DEL	ENST00000003302.4	37	c.625_626delAA	CCDS31680.1																																																																																				0.332	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			26	39						26	39	---	---	---	---
TAS2R31	259290	broad.mit.edu	37	12	11183257	11183258	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:11183257_11183258delTT	ENST00000390675.2	-	1	748_749	c.677_678delAA	c.(676-678)aaafs	p.K226fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	226					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TTTGCAAAGCTTTTATGTGGAC	0.396																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(676-678)afs		taste receptor, type 2, member 31																																				SO:0001589	frameshift_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183257_11183258delTT	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.677_678delAA	12.37:g.11183259_11183260delTT	ENSP00000375093:p.Lys226fs					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.K226fs	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	748_749	-			226					P59547|Q17R84|Q645X5	Frame_Shift_Del	DEL	ENST00000390675.2	37	c.677_678delAA	CCDS53747.1																																																																																				0.396	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		34	149						34	149	---	---	---	---
HDGFRP3	50810	broad.mit.edu	37	15	83876152	83876152	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr15:83876152delC	ENST00000299633.4	-	1	618	c.15delG	c.(13-15)cggfs	p.R5fs	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		5					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTCGCGGGGCCGCGGACGCG	0.756																																						ENST00000299633.4																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(13-15)cgfs									8.0	9.0	9.0					15																	83876152		2139	4218	6357	SO:0001589	frameshift_variant	0				cell proliferation	nucleus	growth factor activity	g.chr15:83876152delC																												ENST00000299633.4:c.15delG	15.37:g.83876152delC	ENSP00000299633:p.Arg5fs					RP11-382A20.4_ENST00000565495.1_RNA	p.R5fs	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN			1	618	-			5						Frame_Shift_Del	DEL	ENST00000299633.4	37	c.15delG	CCDS32314.1																																																																																				0.756	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1			2	4						2	4	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	AA	rs200618809|rs74546027		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr16:3546140_3546141insAA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insAA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546149_3546150dupAA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29220737	29220740	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:29220737_29220740delAAAG	ENST00000321990.4	+	21	5244_5247	c.4866_4869delAAAG	c.(4864-4869)acaaagfs	p.TK1622fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1622					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCCAGAGACAAAGAAATCTATTC	0.392																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4864-4869)acfs		ATPase family, AAA domain containing 5																																				SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220737_29220740delAAAG		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4866_4869delAAAG	17.37:g.29220737_29220740delAAAG	ENSP00000313171:p.Thr1622fs						p.TK1622fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5244_5247	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1622					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.4866_4869delAAAG	CCDS11260.1																																																																																				0.392	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		45	73						45	73	---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44630791	44630793	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:44630791_44630793delAAG	ENST00000576629.1	+	12	5330_5332	c.4835_4837delAAG	c.(4834-4839)caagaa>caa	p.E1613del	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000570550.1_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.E1613del|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1613						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTCATTACAAGAAGATGAAGA	0.369																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4834-4839)caa>c		leucine rich repeat containing 37, member A2																																				SO:0001651	inframe_deletion	474170					integral to membrane		g.chr17:44630791_44630793delAAG	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4835_4837delAAG	17.37:g.44630794_44630796delAAG	ENSP00000459551:p.Glu1613del					ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.QE1612del|ARL17A_ENST00000573185.1_Intron	p.QE1612del			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	12	5330_5332	+		Melanoma(429;0.211)	1612					B7ZMC3	In_Frame_Del	DEL	ENST00000576629.1	37	c.4835_4837delAAG	CCDS42353.1																																																																																				0.369	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		23	243						23	243	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48653584	48653584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:48653584delA	ENST00000359106.5	+	8	1821	c.1821delA	c.(1819-1821)ctafs	p.L607fs	CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	607					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGAAGGCACTAGTAGAGGTGG	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1819-1821)ctfs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						15.0	19.0	18.0					17																	48653584		2060	4194	6254	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653584delA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1821delA	17.37:g.48653584delA	ENSP00000352011:p.Leu607fs					CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs	p.L607fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	2193	+	Breast(11;6.7e-17)		607					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.1821delA	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4						2	4	---	---	---	---
MATK	4145	broad.mit.edu	37	19	3785085	3785086	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:3785085_3785086delCA	ENST00000310132.6	-	2	446_447	c.48_49delTG	c.(46-51)tgtgatfs	p.CD16fs	MATK_ENST00000590821.1_5'Flank|MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	16					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCAGAATCACAGCCGTGAA	0.619																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(46-51)tgatfs		megakaryocyte-associated tyrosine kinase																																				SO:0001589	frameshift_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3785085_3785086delCA	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.48_49delTG	19.37:g.3785087_3785088delCA	ENSP00000308734:p.Cys16fs					MATK_ENST00000395045.2_Intron|MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395040.2_Intron	p.CD16fs	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	446_447	-		Hepatocellular(1079;0.137)	16					B3KNZ9|Q9NST8	Frame_Shift_Del	DEL	ENST00000310132.6	37	c.48_49delTG	CCDS12114.1																																																																																				0.619	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		23	43						23	43	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795543	42795544	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:42795543_42795544delAA	ENST00000575354.2	+	10	2663_2664	c.2623_2624delAA	c.(2623-2625)aaafs	p.K875fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.K1784fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	875	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCAACGGCAAAGTCCTGGCT	0.683			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5350-5352)afs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795543_42795544delAA	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2623_2624delAA	19.37:g.42795543_42795544delAA	ENSP00000458663:p.Lys875fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K875fs	p.K1784fs			Q96RK0	CIC_HUMAN			11	5418_5419	+		Prostate(69;0.00682)	875					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5350_5351delAA	CCDS12601.1																																																																																				0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	19						21	19	---	---	---	---
BIRC7	79444	broad.mit.edu	37	20	61867458	61867458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr20:61867458delA	ENST00000217169.3	+	1	224	c.10delA	c.(10-12)aaafs	p.K4fs	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_5'Flank|BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	4					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CATGGGACCTAAAGACAGTGC	0.627																																						ENST00000217169.3																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(10-12)aafs		baculoviral IAP repeat containing 7							13.0	11.0	12.0					20																	61867458		2178	4283	6461	SO:0001589	frameshift_variant	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61867458delA	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.10delA	20.37:g.61867458delA	ENSP00000217169:p.Lys4fs					BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			1	224	+	all_cancers(38;2.72e-09)		4					Q9BQV0|Q9H2A8|Q9HAP7	Frame_Shift_Del	DEL	ENST00000217169.3	37	c.10delA	CCDS13513.1																																																																																				0.627	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		2	4						2	4	---	---	---	---
