#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
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:93412799C>A	ENST00000267615.6	-	10	951	c.778G>T	c.(778-780)Gag>Tag	p.E260*	ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	260	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(778-780)Gag>Tag		inositol-tetrakisphosphate 1-kinase							83.0	75.0	78.0					14																	93412799		2203	4300	6503	SO:0001587	stop_gained	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412799C>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.778G>T	14.37:g.93412799C>A	ENSP00000267615:p.Glu260*					ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556954.1_5'UTR	p.E260*			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	951	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	260			ATP-grasp.		Q9BTL6|Q9H2E7	Nonsense_Mutation	SNP	ENST00000267615.6	37	c.778G>T	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682923	0.68157	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	5.25	5.25	0.73442	.	0.147171	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.1782	18.8572	0.92257	0.0:1.0:0.0:0.0	.	.	.	.	X	260;290;260;141;260;260	.	ENSP00000267615:E260X	E	-	1	0	ITPK1	92482552	0.998000	0.40836	0.742000	0.31022	0.059000	0.15707	5.940000	0.70187	2.456000	0.83038	0.561000	0.74099	GAG		0.632	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		111	123	1	0	2.90702e-44	1	3.05421e-44	111	123				
UNC93B1	81622	broad.mit.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																						ENST00000227471.2																			1	Substitution - Missense(1)	p.V498M(1)	skin(1)								c.(1492-1494)Gtg>Atg		unc-93 homolog B1 (C. elegans)							2.0	2.0	2.0					11																	67759316		806	1754	2560	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67759316C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met					UNC93B1_ENST00000530331.1_5'UTR	p.V498M	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			12	1571	-			499					O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.1492G>A		.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		3	42	0	0	0	1	0	3	42				
DGKK	139189	broad.mit.edu	37	X	50213492	50213492	+	RNA	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:50213492A>G	ENST00000376025.2	-	0	245							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGGACCTGGAGCAAGCTCTG	0.677																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							47.0	55.0	53.0					X																	50213492		1922	4117	6039			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213492A>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213492A>G										Q5KSL6	DGKK_HUMAN			0	245	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.677	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		247	250	0	0	0	1	0	247	250				
UMOD	7369	broad.mit.edu	37	16	20362076	20362076	+	5'UTR	SNP	G	G	A	rs375932019		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:20362076G>A	ENST00000570689.1	-	0	130				UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000302509.4_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.A44V|UMOD_ENST00000424589.1_5'UTR			P07911	UROM_HUMAN	uromodulin						cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCTCTTCCCGCTACTTCAGG	0.517																																						ENST00000396138.4																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(130-132)gCg>gTg		uromodulin			,	0,4406		0,0,2203	136.0	113.0	121.0		,	1.4	0.0	16		121	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,utr-5	UMOD	NM_001008389.1,NM_003361.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	20362076	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20362076G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.-17C>T	16.37:g.20362076G>A						UMOD_ENST00000570689.1_5'UTR|UMOD_ENST00000424589.1_5'UTR|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000302509.4_5'UTR	p.A44V			P07911	UROM_HUMAN			2	197	-			0			EGF-like 1.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.131C>T	CCDS10583.1																																																																																				0.517	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			4	163	0	0	0	1	0	4	163				
TMC4	147798	broad.mit.edu	37	19	54664079	54664079	+	Silent	SNP	G	G	A	rs77135688		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:54664079G>A	ENST00000376591.4	-	15	2234	c.2103C>T	c.(2101-2103)cgC>cgT	p.R701R	TMC4_ENST00000416963.1_Silent_p.R283R|TMC4_ENST00000301187.4_Silent_p.R695R|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	701					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCCACAGCGCGCCGTGCCA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0					ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(2101-2103)cgC>cgT		transmembrane channel-like 4		G	,	1,4405	2.1+/-5.4	0,1,2202	79.0	89.0	85.0		2103,2085	-10.7	0.1	19	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	701/713,695/707	54664079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54664079G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2103C>T	19.37:g.54664079G>A						TMC4_ENST00000301187.4_Silent_p.R695R|TMC4_ENST00000416963.1_Silent_p.R283R	p.R701R	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			15	2234	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		701					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.2103C>T	CCDS46174.1																																																																																				0.612	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			138	179	0	0	0	1	0	138	179				
ANKRD20A8P	729171	broad.mit.edu	37	2	95484663	95484663	+	RNA	SNP	T	T	C	rs7421280		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:95484663T>C	ENST00000432432.2	-	0	1271					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TTATTTCCTTTTTTGACCTTT	0.259																																						ENST00000432432.2																			0																																																			0							g.chr2:95484663T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95484663T>C								NR_040113.1						0	1271	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.259	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	406	0	0	0	1	0	6	406				
NRP1	8829	broad.mit.edu	37	10	33515104	33515104	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:33515104G>A	ENST00000265371.4	-	8	1620	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	NRP1_ENST00000432372.2_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N|NRP1_ENST00000374875.1_Silent_p.N184N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000374816.3_Silent_p.N365N|NRP1_ENST00000374821.5_Silent_p.N365N			O14786	NRP1_HUMAN	neuropilin 1	365	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTCTTCCCCGTTGGAGCTAA	0.433																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1093-1095)aaC>aaT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						162.0	145.0	151.0					10																	33515104		2203	4300	6503	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33515104G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1095C>T	10.37:g.33515104G>A						NRP1_ENST00000374816.3_Silent_p.N365N|NRP1_ENST00000374821.5_Silent_p.N365N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N	p.N365N			O14786	NRP1_HUMAN			8	1620	-			365			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.1095C>T	CCDS7177.1																																																																																				0.433	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			238	277	0	0	0	1	0	238	277				
FRMPD3	84443	broad.mit.edu	37	X	106845604	106845604	+	Silent	SNP	A	A	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:106845604A>T	ENST00000276185.4	+	16	4434	c.4434A>T	c.(4432-4434)tcA>tcT	p.S1478S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1478						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTCTGGAGTCACCGACGCTGG	0.632																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4432-4434)tcA>tcT		FERM and PDZ domain containing 3							43.0	41.0	41.0					X																	106845604		876	1991	2867	SO:0001819	synonymous_variant	84443					cytoskeleton		g.chrX:106845604A>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4434A>T	X.37:g.106845604A>T							p.S1478S			Q5JV73	FRPD3_HUMAN			16	4434	+			1478					Q96JK8	Silent	SNP	ENST00000276185.4	37	c.4434A>T																																																																																					0.632	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		4	218	0	0	0	1	0	4	218				
LSS	4047	broad.mit.edu	37	21	47629468	47629468	+	Splice_Site	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:47629468C>A	ENST00000397728.3	-	13	1344	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	LSS_ENST00000522411.1_Splice_Site_p.Q411H|LSS_ENST00000457828.2_Splice_Site_p.Q342H|LSS_ENST00000356396.4_Splice_Site_p.Q422H	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	422					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCGGCCTCACCTGTGAGAGCC	0.652																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.e13+1		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							37.0	34.0	35.0					21																	47629468		2203	4297	6500	SO:0001630	splice_region_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47629468C>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1266+1G>T	21.37:g.47629468C>A						LSS_ENST00000457828.2_Splice_Site_p.Q342_splice|LSS_ENST00000356396.4_Splice_Site_p.Q422_splice|LSS_ENST00000522411.1_Splice_Site_p.Q411_splice	p.Q422_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			13	1344	-	Breast(49;0.214)		422					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Splice_Site	SNP	ENST00000397728.3	37	c.1266_splice	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377801	0.61735	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.3	4.42	0.53409	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82723	-0.0316	9	.	.	.	.	13.865	0.63583	0.0:0.9252:0.0:0.0748	.	411;422	E9PEI9;P48449	.;ERG7_HUMAN	H	422;342;422;411	ENSP00000348762:Q422H;ENSP00000409191:Q342H;ENSP00000380837:Q422H;ENSP00000429133:Q411H	.	Q	-	3	2	LSS	46453896	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	6.017000	0.70805	1.385000	0.46445	0.655000	0.94253	CAG		0.652	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Missense_Mutation	3	49	1	0	6.4e-05	1	6.55802e-05	3	49				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			7	166	0	0	0	1	0	7	166				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			8	327	0	0	0	1	0	8	327				
EFCAB13	124989	broad.mit.edu	37	17	45517840	45517840	+	Silent	SNP	C	C	T	rs200910398	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:45517840C>T	ENST00000331493.2	+	25	3093	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S		NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	894	EF-hand 6.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTAAATTATCCGATATATTGA	0.294													.|||	4	0.000798722	0.0	0.0043	5008	,	,		16893	0.001		0.0	False		,,,				2504	0.0					ENST00000331493.2																			0											c.(2680-2682)tcC>tcT		EF-hand calcium binding domain 13							47.0	49.0	49.0					17																	45517840		2203	4291	6494	SO:0001819	synonymous_variant	124989							g.chr17:45517840C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2682C>T	17.37:g.45517840C>T							p.S894S	NM_152347.4	NP_689560.3					25	3093	+								G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	c.2682C>T	CCDS11512.1																																																																																				0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		18	501	0	0	0	1	0	18	501				
BZW2	28969	broad.mit.edu	37	7	16722403	16722403	+	Splice_Site	SNP	A	A	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:16722403A>T	ENST00000433922.2	+	5	517		c.e5-1		BZW2_ENST00000452975.2_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|BZW2_ENST00000405202.1_Splice_Site|BZW2_ENST00000432311.1_Splice_Site	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.?(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTTTTTTTTTAGGTCTTCAAT	0.274																																						ENST00000433922.2																			1	Unknown(1)	p.?(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.e5-1		basic leucine zipper and W2 domains 2							40.0	45.0	43.0					7																	16722403		2197	4294	6491	SO:0001630	splice_region_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16722403A>T	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.340-1A>T	7.37:g.16722403A>T						BZW2_ENST00000452975.2_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|BZW2_ENST00000405202.1_Splice_Site		NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	5	517	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)							A4D123|Q3B779|Q96JW5|Q9H3F7	Splice_Site	SNP	ENST00000433922.2	37		CCDS5362.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107216	0.77096	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6402	0.76993	1.0:0.0:0.0:0.0	rs59826374	.	.	.	.	-1	.	.	.	+	.	.	BZW2	16688928	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.207000	0.95064	2.107000	0.64212	0.528000	0.53228	.		0.274	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038	Intron	5	243	0	0	0	1	0	5	243				
SPRR3	6707	broad.mit.edu	37	1	152975691	152975691	+	Silent	SNP	C	C	T	rs201771127		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:152975691C>T	ENST00000295367.4	+	2	237	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000331860.3_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(193-195)ggC>ggT		small proline-rich protein 3							51.0	45.0	47.0					1																	152975691		2203	4299	6502	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975691C>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.195C>T	1.37:g.152975691C>T						SPRR3_ENST00000295367.4_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	345	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65	Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).		14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.195C>T	CCDS1033.1																																																																																				0.557	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		5	204	0	0	0	1	0	5	204				
SLC6A16	28968	broad.mit.edu	37	19	49797186	49797186	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:49797186G>A	ENST00000335875.4	-	9	1757	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	SLC6A16_ENST00000454748.3_Silent_p.L506L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	506					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCATGGCCAGCAACATCAGG	0.498																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1516-1518)Ctg>Ttg		solute carrier family 6, member 16							162.0	165.0	164.0					19																	49797186		2026	4189	6215	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797186G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1516C>T	19.37:g.49797186G>A						SLC6A16_ENST00000335875.4_Silent_p.L506L	p.L506L			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1717	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	506					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.1516C>T	CCDS42590.1																																																																																				0.498	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		6	590	0	0	0	1	0	6	590				
CHRNB1	1140	broad.mit.edu	37	17	7348716	7348716	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:7348716A>G	ENST00000306071.2	+	2	253	c.186A>G	c.(184-186)caA>caG	p.Q62Q	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_5'Flank|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	62					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCCTGGCGCAACTCATCAGCC	0.682																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(184-186)caA>caG		cholinergic receptor, nicotinic, beta 1 (muscle)							15.0	16.0	16.0					17																	7348716		2200	4294	6494	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7348716A>G	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.186A>G	17.37:g.7348716A>G						FGF11_ENST00000575331.1_3'UTR	p.Q62Q	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			2	253	+		Prostate(122;0.157)	62					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.186A>G	CCDS11106.1																																																																																				0.682	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			30	42	0	0	0	1	0	30	42				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262122	39262122	+	Missense_Mutation	SNP	G	G	A	rs200757692|rs188946528	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:39262122G>A	ENST00000391415.1	+	1	539	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	161	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgccgcccctcttgc	0.652													g|||	92	0.0183706	0.0038	0.0331	5008	,	,		17570	0.001		0.0616	False		,,,				2504	0.001					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(481-483)cGc>cAc		keratin associated protein 4-9							8.0	13.0	11.0					17																	39262122		684	1580	2264	SO:0001583	missense	100132386					keratin filament		g.chr17:39262122G>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.482G>A	17.37:g.39262122G>A	ENSP00000375234:p.Arg161His						p.R161H	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	539	+			161			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.482G>A	CCDS54124.1	61	0.027930402930402932	3	0.006097560975609756	12	0.03314917127071823	1	0.0017482517482517483	45	0.059366754617414245	.	12.11	1.839141	0.32513	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00599	6.3	2.87	-2.78	0.05859	.	0.000000	0.40640	U	0.001042	T	0.00109	0.0003	M	0.74881	2.28	0.09310	N	1	B	0.22080	0.064	B	0.12837	0.008	T	0.47598	-0.9105	10	0.56958	D	0.05	.	4.4035	0.11399	0.3381:0.1654:0.4965:0.0	.	161	Q9BYQ8	KRA49_HUMAN	H	149;161;152	ENSP00000375234:R161H	ENSP00000334461:R152H	R	+	2	0	KRTAP4-9	36515648	0.000000	0.05858	0.312000	0.25196	0.222000	0.24845	-0.253000	0.08794	-0.966000	0.03587	-1.073000	0.02249	CGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		15	56	0	0	0	1	0	15	56				
ZNF367	195828	broad.mit.edu	37	9	99180246	99180246	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:99180246G>A	ENST00000375256.4	-	1	365	c.69C>T	c.(67-69)tgC>tgT	p.C23C		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	23	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGGAGTCGTGGCAGAAGATGA	0.756																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(67-69)tgC>tgT		zinc finger protein 367							3.0	4.0	4.0					9																	99180246		1575	3485	5060	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180246G>A	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.69C>T	9.37:g.99180246G>A							p.C23C	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	365	-		Acute lymphoblastic leukemia(62;0.0167)	23			Pro-rich.		Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.69C>T	CCDS6718.1																																																																																				0.756	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			5	48	0	0	0	1	0	5	48				
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	445	0	0	0	1	0	6	445				
TUBGCP4	27229	broad.mit.edu	37	15	43696705	43696705	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr15:43696705T>G	ENST00000260383.7	+	17	2200	c.1946T>G	c.(1945-1947)cTa>cGa	p.L649R	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.L648R			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	649					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGTTACGACTAGATTATAAC	0.453																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1942-1944)cTa>cGa		tubulin, gamma complex associated protein 4							99.0	90.0	93.0					15																	43696705		1869	4100	5969	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43696705T>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1946T>G	15.37:g.43696705T>G	ENSP00000260383:p.Leu649Arg					TUBGCP4_ENST00000260383.7_Missense_Mutation_p.L649R|TUBGCP4_ENST00000399460.3_3'UTR	p.L648R	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	17	2183	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	649					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1943T>G		.	.	.	.	.	.	.	.	.	.	T	27.1	4.804879	0.90623	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70710	-0.4797	9	0.87932	D	0	-8.7423	15.4929	0.75624	0.0:0.0:0.0:1.0	.	649;648	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	R	648	.	ENSP00000260383:L648R	L	+	2	0	TUBGCP4	41483997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.308000	0.77769	0.533000	0.62120	CTA		0.453	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		29	272	0	0	0	1	0	29	272				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000564451.1																			0																																																			0							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000567960.1_RNA								0	1932	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	612	0	0	0	1	0	7	612				
PCDHA6	56142	broad.mit.edu	37	5	140208566	140208566	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:140208566G>A	ENST00000529310.1	+	1	1004	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATAGATCGAAATACGGGA	0.418																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(889-891)cGa>cAa									85.0	88.0	87.0					5																	140208566		2203	4300	6503	SO:0001583	missense	0							g.chr5:140208566G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.890G>A	5.37:g.140208566G>A	ENSP00000433378:p.Arg297Gln					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.R297Q	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1004	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.890G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444875	0.04604	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.51325	0.71;0.71	3.7	-1.17	0.09648	Cadherin (4);Cadherin-like (1);	1.944250	0.03754	U	0.256999	T	0.30479	0.0766	N	0.12746	0.255	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.007	B;B;B	0.15870	0.0;0.014;0.004	T	0.31081	-0.9956	10	0.51188	T	0.08	.	7.6233	0.28197	0.2589:0.405:0.3362:0.0	.	297;297;297	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Q	297	ENSP00000433378:R297Q;ENSP00000434113:R297Q	ENSP00000434113:R297Q	R	+	2	0	PCDHA6	140188750	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-0.330000	0.07925	-0.018000	0.14079	-0.802000	0.03209	CGA		0.418	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		289	327	0	0	0	1	0	289	327				
SPTB	6710	broad.mit.edu	37	14	65253368	65253368	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:65253368A>G	ENST00000389721.5	-	15	3347	c.3315T>C	c.(3313-3315)ggT>ggC	p.G1105G	SPTB_ENST00000542895.1_Silent_p.G1105G|SPTB_ENST00000389722.3_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000556626.1_Silent_p.G1105G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1105					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCTTGATACCTGCATGCT	0.577																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3313-3315)ggT>ggC		spectrin, beta, erythrocytic							76.0	69.0	71.0					14																	65253368		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253368A>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3315T>C	14.37:g.65253368A>G						SPTB_ENST00000556626.1_Silent_p.G1105G|SPTB_ENST00000542895.1_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000389721.5_Silent_p.G1105G	p.G1105G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3368	-		all_lung(585;4.15e-09)	1105					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.3315T>C	CCDS32100.1																																																																																				0.577	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			73	105	0	0	0	1	0	73	105				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			0							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			5	95	0	0	0	1	0	5	95				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	276	0	0	0	1	0	9	276				
THBS3	7059	broad.mit.edu	37	1	155170284	155170284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:155170284T>C	ENST00000368378.3	-	14	1686	c.1666A>G	c.(1666-1668)Aat>Gat	p.N556D	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	556					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCCCCATTGCCATCTGTG	0.547																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1666-1668)Aat>Gat		thrombospondin 3							256.0	225.0	236.0					1																	155170284		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170284T>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1666A>G	1.37:g.155170284T>C	ENSP00000357362:p.Asn556Asp					RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron	p.N556D	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		14	1686	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		556					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1666A>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	7.447	0.641950	0.14451	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.95482	-3.72;-3.72;-3.72	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.18871	0.023;0.006;0.009;0.006	T	0.73097	-0.4090	10	0.02654	T	1	-25.899	13.2277	0.59924	0.0:0.0:0.0:1.0	.	436;556;556;556	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	556;436;85	ENSP00000357362:N556D;ENSP00000392207:N436D;ENSP00000437353:N85D	ENSP00000357362:N556D	N	-	1	0	THBS3	153436908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.681000	0.46926	2.281000	0.76405	0.533000	0.62120	AAT		0.547	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		236	269	0	0	0	1	0	236	269				
LOC81691	81691	broad.mit.edu	37	16	20856445	20856445	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:20856445G>A	ENST00000261377.6	+	18	2215	c.2006G>A	c.(2005-2007)gGc>gAc	p.G669D	AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AAGCTGAAAGGCAGGCATGCC	0.537																																						ENST00000261377.6																			0											c.(2005-2007)gGc>gAc									79.0	72.0	74.0					16																	20856445		2201	4300	6501	SO:0001583	missense	0							g.chr16:20856445G>A																												ENST00000261377.6:c.2006G>A	16.37:g.20856445G>A	ENSP00000261377:p.Gly669Asp					AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D|AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron	p.G669D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					18	2215	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.2006G>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724681	0.68959	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.34072	1.38;1.78	5.53	4.56	0.56223	RNA recognition motif domain (2);	0.418429	0.26474	N	0.024169	T	0.52805	0.1757	L	0.55990	1.75	0.35869	D	0.828072	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.91	T	0.64188	-0.6466	10	0.62326	D	0.03	-13.38	12.8304	0.57742	0.0:0.0:0.8362:0.1638	.	638;669	Q96IC2-2;Q96IC2	.;REXON_HUMAN	D	638;669	ENSP00000261378:G638D;ENSP00000261377:G669D	ENSP00000261377:G669D	G	+	2	0	AC004381.6	20763946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.000000	0.63940	1.284000	0.44531	0.561000	0.74099	GGC		0.537	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			79	112	0	0	0	1	0	79	112				
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	lincRNA	SNP	G	G	A	rs11586784		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGGGCTCACGAACCTGCTGC	0.662																																						ENST00000412962.1																			0																																																			0							g.chr1:16946336G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946336G>A														0	1183	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	61	0	0	0	1	0	4	61				
FZD7	8324	broad.mit.edu	37	2	202900538	202900538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:202900538G>A	ENST00000286201.1	+	1	1229	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	390					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A390T(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCCGTGCCCGCCGTCAAGAC	0.667											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			1	Substitution - Missense(1)	p.A390T(1)	ovary(1)	breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1168-1170)Gcc>Acc		frizzled family receptor 7							45.0	50.0	49.0					2																	202900538		2203	4299	6502	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900538G>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1168G>A	2.37:g.202900538G>A	ENSP00000286201:p.Ala390Thr		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A390T	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1229	+			390					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1168G>A	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504401	0.85176	.	.	ENSG00000155760	ENST00000286201	D	0.82433	-1.61	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90349	0.4365	10	0.39692	T	0.17	.	19.4726	0.94969	0.0:0.0:1.0:0.0	.	390	O75084	FZD7_HUMAN	T	390	ENSP00000286201:A390T	ENSP00000286201:A390T	A	+	1	0	FZD7	202608783	1.000000	0.71417	0.953000	0.39169	0.913000	0.54294	9.862000	0.99564	2.618000	0.88619	0.561000	0.74099	GCC		0.667	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		4	294	0	0	0	1	0	4	294				
GLI3	2737	broad.mit.edu	37	7	42005281	42005281	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:42005281G>A	ENST00000395925.3	-	15	3474	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1130					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCGGGCGCGTCAAAGTCAC	0.642									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3388-3390)gaC>gaT		GLI family zinc finger 3							56.0	63.0	60.0					7																	42005281		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005281G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3390C>T	7.37:g.42005281G>A						GLI3_ENST00000479210.1_5'UTR	p.D1130D	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3474	-			1130					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3390C>T	CCDS5465.1																																																																																				0.642	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		160	295	0	0	0	1	0	160	295				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			5	104	0	0	0	1	0	5	104				
LAMA2	3908	broad.mit.edu	37	6	129813459	129813459	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:129813459G>A	ENST00000421865.2	+	58	8124		c.e58-1		LAMA2_ENST00000498257.1_Splice_Site	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATTCTATTAGCCCCATGGAC	0.413																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e58-1		laminin, alpha 2							75.0	78.0	77.0					6																	129813459		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129813459G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8076-1G>A	6.37:g.129813459G>A						LAMA2_ENST00000498257.1_Splice_Site		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	58	8124	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186430	0.57909	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129855152	1.000000	0.71417	0.989000	0.46669	0.668000	0.39293	6.417000	0.73337	2.650000	0.89964	0.563000	0.77884	.		0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	12	665	0	0	0	1	0	12	665				
NUP214	8021	broad.mit.edu	37	9	134072641	134072641	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:134072641G>A	ENST00000359428.5	+	29	3904	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000483497.2_Missense_Mutation_p.A80T			P35658	NU214_HUMAN	nucleoporin 214kDa	1254	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCCGGACGCATTCTCATC	0.483			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(3760-3762)Gca>Aca		nucleoporin 214kDa							82.0	79.0	80.0					9																	134072641		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134072641G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3760G>A	9.37:g.134072641G>A	ENSP00000352400:p.Ala1254Thr					NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000483497.2_Missense_Mutation_p.A80T	p.A1254T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	3904	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1254			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.3760G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029241	0.07589	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.46819	1.6;1.6;1.6;0.98;0.86	5.68	-7.71	0.01254	.	0.850834	0.10024	N	0.725668	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.003;0.001;0.003;0.001	B;B;B;B;B	0.12156	0.006;0.002;0.001;0.001;0.007	T	0.17653	-1.0362	10	0.21540	T	0.41	-0.0613	5.706	0.17909	0.5759:0.0771:0.2202:0.1269	.	80;683;848;1244;1254	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	T	1254;1244;1255;1233;848;683;80;31;31	ENSP00000352400:A1254T;ENSP00000396576:A1244T;ENSP00000405014:A1255T;ENSP00000436793:A80T;ENSP00000435364:A31T	ENSP00000352400:A1254T	A	+	1	0	NUP214	133062462	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.051000	0.03507	-1.632000	0.01541	-1.012000	0.02466	GCA		0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	420	0	0	0	1	0	5	420				
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	C	G	rs201519055	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr22:25011062C>G	ENST00000400382.1	+	7	1105	c.350C>G	c.(349-351)aCc>aGc	p.T117S	GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	117					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.T117S(8)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCTTTGCCACCATGTTCAAC	0.637																																						ENST00000400382.1																			8	Substitution - Missense(8)	p.T117S(8)	kidney(4)|skin(3)|lung(1)	breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(349-351)aCc>aGc		gamma-glutamyltransferase 1	Glutathione(DB00143)						25.0	26.0	26.0					22																	25011062		1913	4123	6036	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25011062C>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.350C>G	22.37:g.25011062C>G	ENSP00000383232:p.Thr117Ser					GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000400383.1_Missense_Mutation_p.T117S	p.T117S			P19440	GGT1_HUMAN			7	1105	+			117					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.350C>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.981130	0.00448	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000447416;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	3.62	-7.23	0.01480	.	1.055640	0.07408	N	0.891875	T	0.04998	0.0134	N	0.21097	0.63	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.40001	-0.9586	10	0.23302	T	0.38	-25.7648	9.3717	0.38258	0.4508:0.4439:0.1054:0.0	.	117	P19440	GGT1_HUMAN	S	117	ENSP00000248923:T117S;ENSP00000389935:T117S;ENSP00000393537:T117S;ENSP00000395271:T117S;ENSP00000383232:T117S;ENSP00000415553:T117S;ENSP00000383233:T117S;ENSP00000383231:T117S;ENSP00000400621:T117S;ENSP00000385975:T117S;ENSP00000415068:T117S	ENSP00000248923:T117S	T	+	2	0	GGT1	23341062	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-3.668000	0.00398	-2.673000	0.00413	-1.718000	0.00708	ACC		0.637	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	135	0	0	0	1	0	5	135				
SPTBN1	6711	broad.mit.edu	37	2	54887113	54887113	+	Missense_Mutation	SNP	C	C	T	rs369581553		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:54887113C>T	ENST00000356805.4	+	32	6678	c.6397C>T	c.(6397-6399)Cca>Tca	p.P2133S	AC093110.3_ENST00000456363.1_RNA|SPTBN1_ENST00000333896.5_Missense_Mutation_p.P2120S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2133					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAACGGTTTGCCAGCTGAACA	0.473																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6358-6360)Cca>Tca		spectrin, beta, non-erythrocytic 1		C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	71.0	64.0	67.0		6397,6358	5.8	1.0	2		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTBN1	NM_003128.2,NM_178313.2	74,74	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	2133/2365,2120/2156	54887113	2,13004	2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54887113C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6397C>T	2.37:g.54887113C>T	ENSP00000349259:p.Pro2133Ser					SPTBN1_ENST00000356805.4_Missense_Mutation_p.P2133S	p.P2120S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		31	6743	+			2133					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6358C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003472	0.54254	2.27E-4	1.16E-4	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.69175	-0.38;-0.28	5.76	5.76	0.90799	.	0.124466	0.56097	D	0.000037	T	0.51024	0.1650	N	0.19112	0.55	0.49389	D	0.999785	P;B;B;B	0.42203	0.773;0.009;0.001;0.001	B;B;B;B	0.34093	0.175;0.006;0.002;0.003	T	0.50642	-0.8804	10	0.23891	T	0.37	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	123;2133;2120;2133	B4DIF8;Q01082-2;Q01082-3;Q01082	.;.;.;SPTB2_HUMAN	S	2133;2120	ENSP00000349259:P2133S;ENSP00000334156:P2120S	ENSP00000334156:P2120S	P	+	1	0	SPTBN1	54740617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.769000	0.62300	2.713000	0.92767	0.655000	0.94253	CCA		0.473	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	219	0	0	0	1	0	4	219				
CACNB2	783	broad.mit.edu	37	10	18690942	18690942	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:18690942G>A	ENST00000324631.7	+	3	363	c.303G>A	c.(301-303)cgG>cgA	p.R101R	CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000396576.2_Silent_p.R46R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000377329.4_Silent_p.R47R	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	101				ER -> Q (in Ref. 5; AAD33729). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCGGAGCGGCAGGCCCAGG	0.567																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(136-138)cgG>cgA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72.0	61.0	65.0					10																	18690942		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690942G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.303G>A	10.37:g.18690942G>A						CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000324631.7_Silent_p.R101R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000377329.4_Silent_p.R47R	p.R46R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			2	639	+			101					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.138G>A	CCDS7125.1																																																																																				0.567	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		5	203	0	0	0	1	0	5	203				
MUC4	4585	broad.mit.edu	37	3	195505830	195505830	+	Silent	SNP	G	G	C	rs373203224		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:195505830G>C	ENST00000463781.3	-	2	13080	c.12621C>G	c.(12619-12621)acC>acG	p.T4207T	MUC4_ENST00000475231.1_Silent_p.T4207T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4207T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGGGGTGGCGTGAC	0.602																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.T4207T(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12619-12621)acC>acG		mucin 4, cell surface associated							16.0	15.0	15.0					3																	195505830		686	1569	2255	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505830G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12621C>G	3.37:g.195505830G>C						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T	p.T4207T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13080	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12621C>G	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	24	0	0	0	1	0	5	24				
PCDHA11	56138	broad.mit.edu	37	5	140248828	140248828	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:140248828G>A	ENST00000398640.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.642																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(139-141)cGc>cAc									58.0	69.0	66.0					5																	140248828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140248828G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.140G>A	5.37:g.140248828G>A	ENSP00000381636:p.Arg47His					PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.R47H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.140G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985516	0.74589	.	.	ENSG00000249158	ENST00000398640	T	0.27256	1.68	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.37210	0.0995	L	0.55213	1.73	0.30173	N	0.801147	P;D	0.54207	0.609;0.965	B;P	0.49853	0.185;0.624	T	0.30297	-0.9983	9	0.59425	D	0.04	.	16.584	0.84723	0.0:0.13:0.87:0.0	.	47;47	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	47	ENSP00000381636:R47H	ENSP00000381636:R47H	R	+	2	0	PCDHA11	140229012	0.016000	0.18221	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.628000	0.89032	0.655000	0.94253	CGC		0.642	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		7	571	0	0	0	1	0	7	571				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	176	0	0	0	1	0	5	176				
STXBP5L	9515	broad.mit.edu	37	3	121126282	121126282	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:121126282T>C	ENST00000273666.6	+	24	3123	c.2852T>C	c.(2851-2853)aTa>aCa	p.I951T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGTATACAATAATCTGCTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2851-2853)aTa>aCa		syntaxin binding protein 5-like							127.0	122.0	123.0					3																	121126282		1892	4118	6010	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126282T>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2852T>C	3.37:g.121126282T>C	ENSP00000273666:p.Ile951Thr					STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T	p.I951T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3123	+			951					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2852T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175675	0.57692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.55052	0.54;0.54;1.96;1.96;1.96;0.54	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.116455	0.64402	D	0.000018	T	0.47395	0.1443	L	0.39898	1.24	0.48901	D	0.999726	P;P	0.37781	0.608;0.608	B;B	0.37601	0.171;0.254	T	0.53725	-0.8398	10	0.87932	D	0	-16.4474	15.5893	0.76512	0.0:0.0:0.0:1.0	.	927;951	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	951;927;927;925;951;894	ENSP00000273666:I951T;ENSP00000420019:I927T;ENSP00000419627:I927T;ENSP00000420287:I925T;ENSP00000420666:I951T;ENSP00000420167:I894T	ENSP00000273666:I951T	I	+	2	0	STXBP5L	122608972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.149000	0.67028	0.528000	0.53228	ATA		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			223	225	0	0	0	1	0	223	225				
TLR5	7100	broad.mit.edu	37	1	223284937	223284937	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:223284937G>C	ENST00000540964.1	-	4	1898	c.1437C>G	c.(1435-1437)ttC>ttG	p.F479L	TLR5_ENST00000342210.6_Missense_Mutation_p.F479L			O60602	TLR5_HUMAN	toll-like receptor 5	479			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTCTCCAAGGAAAAGCTGTT	0.413																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1435-1437)ttC>ttG		toll-like receptor 5							73.0	75.0	74.0					1																	223284937		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284937G>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1437C>G	1.37:g.223284937G>C	ENSP00000440643:p.Phe479Leu					TLR5_ENST00000342210.6_Missense_Mutation_p.F479L	p.F479L			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1898	-			479		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1437C>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488957	0.26686	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23552	1.9;1.9;1.9	5.49	3.4	0.38934	.	0.154028	0.53938	D	0.000046	T	0.25606	0.0623	M	0.68317	2.08	0.28839	N	0.896695	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.44086	T	0.13	.	8.8258	0.35054	0.3007:0.0:0.6993:0.0	.	479	O60602	TLR5_HUMAN	L	479	ENSP00000440643:F479L;ENSP00000355846:F479L;ENSP00000340089:F479L	ENSP00000340089:F479L	F	-	3	2	TLR5	221351560	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.463000	0.45058	1.320000	0.45209	0.650000	0.86243	TTC		0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		219	253	0	0	0	1	0	219	253				
GPT	2875	broad.mit.edu	37	8	145732324	145732324	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:145732324C>T	ENST00000528431.1	+	12	1589	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Missense_Mutation_p.R478W			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	478					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GGAGAAACTGCGGCTGCTGCT	0.632																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1432-1434)Cgg>Tgg		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						71.0	66.0	68.0					8																	145732324		2203	4300	6503	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732324C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1432C>T	8.37:g.145732324C>T	ENSP00000433586:p.Arg478Trp					GPT_ENST00000528431.1_Missense_Mutation_p.R478W	p.R478W	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	1655	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		478					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1432C>T	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611676	0.66558	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91124	-2.79;-2.79	4.68	2.52	0.30459	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123114	0.50627	D	0.000109	D	0.91399	0.7286	L	0.41492	1.28	0.36704	D	0.880285	D	0.76494	0.999	D	0.66979	0.948	D	0.92471	0.5985	10	0.87932	D	0	-35.9045	10.8248	0.46625	0.44:0.56:0.0:0.0	.	478	P24298	ALAT1_HUMAN	W	478	ENSP00000433586:R478W;ENSP00000378408:R478W	ENSP00000378408:R478W	R	+	1	2	GPT	145703132	0.979000	0.34478	0.972000	0.41901	0.939000	0.58152	0.413000	0.21148	0.891000	0.36235	0.561000	0.74099	CGG		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			4	230	0	0	0	1	0	4	230				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	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.S155S(4)		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)		tgctgctactgctgctgctgc	0.532			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		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(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.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>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.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S155S	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	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	310	0	0	0	1	0	6	310				
ACSS1	84532	broad.mit.edu	37	20	24993472	24993472	+	Silent	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr20:24993472C>A	ENST00000323482.4	-	11	1762	c.1683G>T	c.(1681-1683)ggG>ggT	p.G561G	ACSS1_ENST00000542618.1_Silent_p.G440G|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Silent_p.G478G|ACSS1_ENST00000484396.1_5'Flank	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	561					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTCTGCGGTCCCCAGCCGGT	0.587																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1432-1434)ggG>ggT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						127.0	111.0	116.0					20																	24993472		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993472C>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1683G>T	20.37:g.24993472C>A						ACSS1_ENST00000323482.4_Silent_p.G561G|ACSS1_ENST00000542618.1_Silent_p.G440G|ACSS1_ENST00000432802.2_Intron	p.G478G			Q9NUB1	ACS2L_HUMAN			9	2965	-			561					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1434G>T	CCDS13167.1																																																																																				0.587	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		165	200	1	0	4.90236e-94	1	5.21661e-94	165	200				
FNDC1	84624	broad.mit.edu	37	6	159688923	159688923	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:159688923C>A	ENST00000297267.9	+	22	5734	c.5534C>A	c.(5533-5535)cCt>cAt	p.P1845H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1782H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1845					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAACAGGGCCTCAGTCCTAT	0.448																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5533-5535)cCt>cAt		fibronectin type III domain containing 1							103.0	98.0	100.0					6																	159688923		1929	4136	6065	SO:0001583	missense	84624					extracellular region		g.chr6:159688923C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5534C>A	6.37:g.159688923C>A	ENSP00000297267:p.Pro1845His					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1782H	p.P1845H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	22	5734	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1845					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5534C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087615	0.94100	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.45668	0.89;0.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37009	-0.9724	9	.	.	.	-19.5385	19.5709	0.95419	0.0:1.0:0.0:0.0	.	1845	Q4ZHG4	FNDC1_HUMAN	H	1845;1782	ENSP00000297267:P1845H;ENSP00000342460:P1782H	.	P	+	2	0	FNDC1	159608913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.620000	0.88729	0.491000	0.48974	CCT		0.448	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	117	1	0	2.56e-06	1	2.656e-06	4	117				
BAG3	9531	broad.mit.edu	37	10	121432046	121432046	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:121432046G>A	ENST00000369085.3	+	3	1093	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	263					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CCTGCGGGCGGCATCCCCGTT	0.677																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(787-789)Gca>Aca		BCL2-associated athanogene 3							46.0	53.0	51.0					10																	121432046		2203	4299	6502	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121432046G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.787G>A	10.37:g.121432046G>A	ENSP00000358081:p.Ala263Thr						p.A263T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	1093	+		Lung NSC(174;0.109)|all_lung(145;0.142)	263					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.787G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550019	0.27652	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74421	-0.84;-0.84	5.94	0.494	0.16884	.	0.903691	0.09790	N	0.755578	T	0.55924	0.1951	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.33111	-0.9881	10	0.16896	T	0.51	-0.9935	10.7786	0.46365	0.1553:0.5997:0.245:0.0	.	263;263	O95817;Q53GY1	BAG3_HUMAN;.	T	263;205	ENSP00000358081:A263T;ENSP00000410036:A205T	ENSP00000358081:A263T	A	+	1	0	BAG3	121422036	0.010000	0.17322	0.000000	0.03702	0.008000	0.06430	0.787000	0.26858	0.090000	0.17273	-0.253000	0.11424	GCA		0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		4	143	0	0	0	1	0	4	143				
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	rs575911571		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353.0	352.0	353.0					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		10	1782	0	0	0	1	0	10	1782				
PRKCB	5579	broad.mit.edu	37	16	23847561	23847561	+	Missense_Mutation	SNP	G	G	A	rs200442462		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:23847561G>A	ENST00000321728.7	+	1	240	c.65G>A	c.(64-66)cGc>cAc	p.R22H	PRKCB_ENST00000498058.1_Missense_Mutation_p.R22H|PRKCB_ENST00000303531.7_Missense_Mutation_p.R22H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	22					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGCGCC	0.692																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(64-66)cGc>cAc		protein kinase C, beta	Vitamin E(DB00163)						59.0	52.0	54.0					16																	23847561		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847561G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.65G>A	16.37:g.23847561G>A	ENSP00000318315:p.Arg22His					PRKCB_ENST00000321728.7_Missense_Mutation_p.R22H|PRKCB_ENST00000498058.1_Missense_Mutation_p.R22H	p.R22H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	217	+			22					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.65G>A	CCDS10618.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	16.39	3.108558	0.56291	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88124	-2.34;-2.34	3.71	2.73	0.32206	.	0.086882	0.41294	U	0.000919	D	0.92844	0.7724	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92357	0.5894	10	0.87932	D	0	.	10.3438	0.43895	0.0:0.0:0.8013:0.1987	.	22;22	P05771-2;P05771	.;KPCB_HUMAN	H	22	ENSP00000318315:R22H;ENSP00000305355:R22H	ENSP00000305355:R22H	R	+	2	0	PRKCB	23755062	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	8.649000	0.91067	0.640000	0.30582	-0.317000	0.08691	CGC		0.692	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		4	234	0	0	0	1	0	4	234				
SLMAP	7871	broad.mit.edu	37	3	57898112	57898112	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:57898112A>G	ENST00000428312.1	+	18	1747	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000495364.1_Silent_p.Q85Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000295951.3_Silent_p.Q534Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	551					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TTGCAGCCCAATTGCAGAGGT	0.408																																						ENST00000295951.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1600-1602)caA>caG		sarcolemma associated protein							70.0	73.0	72.0					3																	57898112		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57898112A>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1653A>G	3.37:g.57898112A>G						SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000428312.1_Silent_p.Q551Q|SLMAP_ENST00000495364.1_Silent_p.Q85Q	p.Q534Q			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	18	2819	+			551					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.1602A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.715|3.715	-0.058842|-0.058842	0.07317|0.07317	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.09|5.09	-6.98|-6.98	0.01611|0.01611	.|.	.|.	.|.	.|.	.|.	T|T	0.65460|0.65460	0.2693|0.2693	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69266|0.69266	-0.5190|-0.5190	4|4	.|.	.|.	.|.	-10.0023|-10.0023	17.6214|17.6214	0.88083|0.88083	0.3198:0.0:0.6802:0.0|0.3198:0.0:0.6802:0.0	.|.	.|.	.|.	.|.	V|S	159;89|135	.|.	.|.	I|N	+|+	1|2	0|0	SLMAP|SLMAP	57873152|57873152	0.299000|0.299000	0.24426|0.24426	0.803000|0.803000	0.32268|0.32268	0.563000|0.563000	0.35712|0.35712	-0.154000|-0.154000	0.10130|0.10130	-1.299000|-1.299000	0.02344|0.02344	-1.194000|-1.194000	0.01681|0.01681	ATT|AAT		0.408	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		11	209	0	0	0	1	0	11	209				
UGT2B11	10720	broad.mit.edu	37	4	70074189	70074189	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:70074189C>T	ENST00000446444.1	-	3	890	c.882G>A	c.(880-882)gaG>gaA	p.E294E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	294					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTACAAACTCCTCCATTT	0.398																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(880-882)gaG>gaA		UDP glucuronosyltransferase 2 family, polypeptide B11							119.0	123.0	122.0					4																	70074189		2203	4293	6496	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074189C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.882G>A	4.37:g.70074189C>T						RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.E294E	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			3	890	-			294					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.882G>A	CCDS3527.1																																																																																				0.398	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		11	1228	0	0	0	1	0	11	1228				
DMXL1	1657	broad.mit.edu	37	5	118513060	118513060	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:118513060A>G	ENST00000311085.8	+	27	6847	c.6767A>G	c.(6766-6768)cAg>cGg	p.Q2256R	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2256										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGTTCATTTCAGACGAATCAG	0.299																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6766-6768)cAg>cGg		Dmx-like 1							51.0	47.0	48.0					5																	118513060		2201	4299	6500	SO:0001583	missense	1657							g.chr5:118513060A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6767A>G	5.37:g.118513060A>G	ENSP00000309690:p.Gln2256Arg					DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R	p.Q2256R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	27	6847	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2256						Missense_Mutation	SNP	ENST00000311085.8	37	c.6767A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917013	0.33815	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10573	2.86;2.86	5.96	5.96	0.96718	.	0.090364	0.85682	D	0.000000	T	0.11580	0.0282	L	0.58101	1.795	0.47621	D	0.999475	P;B	0.45126	0.851;0.394	B;B	0.33454	0.164;0.079	T	0.02301	-1.1180	10	0.62326	D	0.03	-6.2321	13.4635	0.61241	0.87:0.13:0.0:0.0	.	2256;2256	F5H269;Q9Y485	.;DMXL1_HUMAN	R	2256	ENSP00000309690:Q2256R;ENSP00000439479:Q2256R	ENSP00000309690:Q2256R	Q	+	2	0	DMXL1	118540959	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.694000	0.68272	2.285000	0.76669	0.533000	0.62120	CAG		0.299	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		6	197	0	0	0	1	0	6	197				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	784	0	0	0	1	0	7	784				
ZMYM3	9203	broad.mit.edu	37	X	70463797	70463797	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:70463797G>A	ENST00000353904.2	-	21	3501	c.3314C>T	c.(3313-3315)gCc>gTc	p.A1105V	ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1093V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCTGAGCAGGCGAGAATATC	0.463																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3277-3279)gCc>gTc		zinc finger, MYM-type 3							164.0	112.0	129.0					X																	70463797		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463797G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3314C>T	X.37:g.70463797G>A	ENSP00000343909:p.Ala1105Val					ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR	p.A1093V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	3975	-	Renal(35;0.156)		1105					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3278C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	19.13	3.766881	0.69878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.46451	1.46;0.87;1.46;1.47;1.47	5.04	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.38825	0.1055	N	0.22421	0.69	0.35936	D	0.832909	P;P	0.41313	0.745;0.629	P;B	0.47645	0.553;0.351	T	0.51268	-0.8727	10	0.49607	T	0.09	-12.5039	13.8071	0.63238	0.0:0.0:0.8458:0.1542	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1105;1093;1105;1100;1107	ENSP00000322845:A1105V;ENSP00000363110:A1093V;ENSP00000343909:A1105V;ENSP00000363096:A1100V;ENSP00000363100:A1107V	ENSP00000322845:A1105V	A	-	2	0	ZMYM3	70380522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.215000	0.65241	1.066000	0.40716	0.529000	0.55759	GCC		0.463	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		96	108	0	0	0	1	0	96	108				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	349	0	0	0	1	0	5	349				
TNC	3371	broad.mit.edu	37	9	117822234	117822234	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:117822234C>T	ENST00000350763.4	-	14	4492	c.4081G>A	c.(4081-4083)Gat>Aat	p.D1361N	TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1361N|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1270N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1361	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGAGGCCATCCCAGCCAACC	0.493																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4081-4083)Gat>Aat		tenascin C							60.0	48.0	52.0					9																	117822234		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117822234C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4081G>A	9.37:g.117822234C>T	ENSP00000265131:p.Asp1361Asn					TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1270N|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1361N|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron	p.D1361N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			14	4492	-			1361			Fibronectin type-III 9.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4081G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132387	0.56828	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.56103	0.48;0.48;0.48	5.43	4.54	0.55810	Fibronectin, type III (4);	0.141158	0.43260	N	0.000585	T	0.66925	0.2839	M	0.71920	2.185	0.80722	D	1	P;D	0.64830	0.553;0.994	B;D	0.63192	0.34;0.912	T	0.65286	-0.6205	10	0.26408	T	0.33	.	13.8185	0.63306	0.0:0.9264:0.0:0.0736	.	1361;1361	E9PC84;P24821	.;TENA_HUMAN	N	1361;1270;1361	ENSP00000265131:D1361N;ENSP00000339553:D1270N;ENSP00000411406:D1361N	ENSP00000339553:D1270N	D	-	1	0	TNC	116862055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.500000	0.53318	1.282000	0.44496	0.563000	0.77884	GAT		0.493	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	127	0	0	0	1	0	5	127				
CHERP	10523	broad.mit.edu	37	19	16640583	16640583	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:16640583C>T	ENST00000198939.6	-	8	1074	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	CHERP_ENST00000546361.2_Silent_p.Q335Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgttgctgctgctgct	0.667																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1005)caG>caA		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640583		2194	4294	6488	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640583C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038G>A	19.37:g.16640583C>T						CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.Q346Q	p.Q335Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156	-			335			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1005G>A																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	111	0	0	0	1	0	4	111				
UQCC3	790955	broad.mit.edu	37	11	62439431	62439431	+	Missense_Mutation	SNP	C	C	T	rs375694374		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:62439431C>T	ENST00000531323.1	+	3	670	c.127C>T	c.(127-129)Cca>Tca	p.P43S	C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank|C11orf48_ENST00000354588.3_5'Flank			Q6UW78	CK083_HUMAN		43						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						TCAGGAGATGCCACTGCAGGA	0.652																																						ENST00000531323.1																			0				cervix(1)|lung(1)|prostate(1)	3						c.(127-129)Cca>Tca		chromosome 11 open reading frame 83		C	SER/PRO	0,4294		0,0,2147	22.0	29.0	26.0		127	5.1	1.0	11		26	1,8507		0,1,4253	no	missense	C11orf83	NM_001085372.2	74	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	43/94	62439431	1,12801	2147	4254	6401	SO:0001583	missense	790955					extracellular region		g.chr11:62439431C>T																												ENST00000531323.1:c.127C>T	11.37:g.62439431C>T	ENSP00000432692:p.Pro43Ser					C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S	p.P43S			Q6UW78	CK083_HUMAN			3	670	+			43					Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	c.127C>T	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556223	0.65425	0.0	1.18E-4	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	5.08	0.68730	.	0.084007	0.45361	D	0.000377	T	0.74397	0.3711	.	.	.	0.34743	D	0.730986	D	0.89917	1.0	D	0.73708	0.981	T	0.82096	-0.0626	8	0.72032	D	0.01	-14.1074	14.1832	0.65588	0.0:1.0:0.0:0.0	.	43	Q6UW78	CK083_HUMAN	S	43	.	ENSP00000367189:P43S	P	+	1	0	C11orf83	62196007	0.989000	0.36119	0.993000	0.49108	0.124000	0.20399	2.131000	0.42074	2.798000	0.96311	0.655000	0.94253	CCA		0.652	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2			4	129	0	0	0	1	0	4	129				
CCDC85B	11007	broad.mit.edu	37	11	65658773	65658773	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:65658773C>T	ENST00000312579.2	+	1	899	c.519C>T	c.(517-519)tgC>tgT	p.C173C	FIBP_ENST00000338369.2_5'Flank|FIBP_ENST00000533045.1_5'Flank|FIBP_ENST00000357519.4_5'Flank|FIBP_ENST00000426652.2_5'Flank	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	173					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)									READ - Rectum adenocarcinoma(159;0.166)		TGCCCCCGTGCGGGCCCCGCG	0.721																																						ENST00000312579.2																			0											c.(517-519)tgC>tgT		coiled-coil domain containing 85B							9.0	9.0	9.0					11																	65658773		2177	4275	6452	SO:0001819	synonymous_variant	11007				cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding	g.chr11:65658773C>T	BC008796	CCDS8120.1	11q13.1	2010-12-24				ENSG00000175602			24926	protein-coding gene	gene with protein product	"""hepatitis delta antigen interacting protein A"""	605360				8810253, 15644333, 17873903	Standard	NM_006848		Approved	DIPA	uc001ogf.3	Q15834		ENST00000312579.2:c.519C>T	11.37:g.65658773C>T							p.C173C	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	899	+			173					B2R598|Q96HA0	Silent	SNP	ENST00000312579.2	37	c.519C>T	CCDS8120.1																																																																																				0.721	CCDC85B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391196.1	NM_006848		3	38	0	0	0	1	0	3	38				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	501	0	0	0	1	0	9	501				
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		15	1053	0	0	0	1	0	15	1053				
L3HYPDH	112849	broad.mit.edu	37	14	59950906	59950906	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:59950906A>G	ENST00000247194.4	-	1	242	c.129T>C	c.(127-129)tcT>tcC	p.S43S	JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000556985.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	43					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GGGTGGGCCCAGACACCTCCG	0.697											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000247194.4																			0											c.(127-129)tcT>tcC		L-3-hydroxyproline dehydratase (trans-)							17.0	15.0	16.0					14																	59950906		2091	4140	6231	SO:0001819	synonymous_variant	112849							g.chr14:59950906A>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.129T>C	14.37:g.59950906A>G			OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	RP11-701B16.2_ENST00000554253.1_RNA	p.S43S	NM_144581.1	NP_653182.1					1	242	-								Q96LJ5	Silent	SNP	ENST00000247194.4	37	c.129T>C	CCDS9739.1																																																																																				0.697	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		26	53	0	0	0	1	0	26	53				
GPR27	2850	broad.mit.edu	37	3	71803791	71803791	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:71803791G>A	ENST00000304411.2	+	1	591	c.591G>A	c.(589-591)acG>acA	p.T197T	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_Intron	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	197					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(589-591)acG>acA		G protein-coupled receptor 27							4.0	5.0	4.0					3																	71803791		1449	2852	4301	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71803791G>A	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.591G>A	3.37:g.71803791G>A						EIF4E3_ENST00000421769.2_Intron	p.T197T	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	591	+		Prostate(10;0.00899)	197						Silent	SNP	ENST00000304411.2	37	c.591G>A	CCDS2915.1																																																																																				0.746	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		3	23	0	0	0	1	0	3	23				
PRDM15	63977	broad.mit.edu	37	21	43299470	43299470	+	Missense_Mutation	SNP	C	C	T	rs555345589		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:43299470C>T	ENST00000269844.3	-	1	121	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SNORA3_ENST00000515969.1_RNA|PRDM15_ENST00000538201.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|AP001619.2_ENST00000432411.1_RNA|PRDM15_ENST00000422911.1_Missense_Mutation_p.R4H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						cggggggcggcggcggggcAT	0.746													c|||	1	0.000199681	0.0	0.0	5008	,	,		2754	0.001		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(10-12)cGc>cAc		PR domain containing 15							4.0	5.0	4.0					21																	43299470		1746	3685	5431	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43299470C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.11G>A	21.37:g.43299470C>T	ENSP00000269844:p.Arg4His					PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R4H|PRDM15_ENST00000538201.1_5'UTR	p.R4H			P57071	PRD15_HUMAN			1	112	-			4					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.11G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	4.273	0.049715	0.08243	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000269844	T;T;T	0.10960	2.82;2.83;2.82	3.01	-6.02	0.02192	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45454	-0.9260	9	0.21014	T	0.42	.	8.0005	0.30293	0.0:0.5084:0.3199:0.1718	.	4;4;4	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	4	ENSP00000408592:R4H;ENSP00000381556:R4H;ENSP00000269844:R4H	ENSP00000269844:R4H	R	-	2	0	PRDM15	42172539	0.000000	0.05858	0.335000	0.25508	0.962000	0.63368	-3.397000	0.00485	-1.134000	0.02899	-0.537000	0.04273	CGC		0.746	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		25	39	0	0	0	1	0	25	39				
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000414170.3_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - coding silent(1)	p.C75C(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(223-225)tgC>tgT		lipase, hepatic							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C	p.C75C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	512	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	749	0	0	0	1	0	7	749				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390332	52390332	+	RNA	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:52390332C>T	ENST00000443374.2	+	0	1521				RP11-50E11.3_ENST00000609579.1_RNA																							CCAAAAAGGCCGTCATTTTTT	0.333																																						ENST00000443374.1																			0																																																			0							g.chr10:52390332C>T																													10.37:g.52390332C>T														0	1025	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.333	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			4	125	0	0	0	1	0	4	125				
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1.0			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	291						11	291	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38003368	38003370	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:38003368_38003370delTCC	ENST00000296215.6	-	4	1242_1244	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	390	Poly-Glu.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1168-1173)gaa>ga		Smad nuclear interacting protein 1																																				SO:0001651	inframe_deletion	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003368_38003370delTCC		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1170_1172delGGA	1.37:g.38003377_38003379delTCC	ENSP00000296215:p.Glu392del						p.EE390del	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1242_1244	-		Myeloproliferative disorder(586;0.0393)	390			Poly-Glu.		Q96SP9|Q9H9T7	In_Frame_Del	DEL	ENST00000296215.6	37	c.1170_1172delGGA	CCDS419.1																																																																																				0.448	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		9	600						9	600	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53.0	55.0	54.0					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	1104						7	1104	---	---	---	---
DMRTB1	63948	broad.mit.edu	37	1	53930351	53930353	+	In_Frame_Del	DEL	GCC	GCC	-	rs75818218|rs566504124|rs147307088|rs375544915	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:53930351_53930353delGCC	ENST00000371445.3	+	3	847_849	c.792_794delGCC	c.(790-795)ctgccg>ctg	p.P270del	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	270	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.67																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(790-795)ctg>ct		DMRT-like family B with proline-rich C-terminal, 1																																				SO:0001651	inframe_deletion	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930351_53930353delGCC	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.792_794delGCC	1.37:g.53930360_53930362delGCC	ENSP00000360500:p.Pro270del					DMRTB1_ENST00000463126.1_3'UTR	p.LP264del	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			3	847_849	+			264			Pro-rich.		Q96SD2	In_Frame_Del	DEL	ENST00000371445.3	37	c.792_794delGCC	CCDS581.1																																																																																				0.670	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			8	330						8	330	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:103355065delT	ENST00000370096.3	-	59	4722	c.4410delA	c.(4408-4410)aaafs	p.K1470fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.K1482fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1470	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4444-4446)aafs		collagen, type XI, alpha 1							75.0	72.0	73.0					1																	103355065		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355065delT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4410delA	1.37:g.103355065delT	ENSP00000359114:p.Lys1470fs					COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs	p.K1482fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4763	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1470			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.4446delA	CCDS778.1																																																																																				0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	644						7	644	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	90						8	90	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			9	89						9	89	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241753558	241753558	+	IGR	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:241753558delA	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366559.4_Frame_Shift_Del_p.Q418fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGCATTGGCAAAAAAAGGTT	0.313																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1252-1254)cafs		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							95.0	98.0	97.0					1																	241753558		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753558delA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753558delA						KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs	p.Q418fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1564	+	Ovarian(103;0.103)|all_lung(81;0.23)		418					Q8IX08|Q9Y344	Frame_Shift_Del	DEL	ENST00000366554.2	37	c.1253delA	CCDS31072.1																																																																																				0.313	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		7	705						7	705	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	58688842	58688843	+	lincRNA	DEL	CT	CT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465																																						ENST00000452840.1																			0																																																			0							g.chr2:58688842_58688843delCT																													2.37:g.58688852_58688853delCT														0	127	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.465	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			7	194						7	194	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179517014	179517014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:179517014delT	ENST00000591111.1	-	158	34891	c.34667delA	c.(34666-34668)aagfs	p.K11556fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.K13063fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10629fs|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11528	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCAGGCTTTTTAGGAGG	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39187-39189)agfs		titin							172.0	169.0	170.0					2																	179517014		1817	4080	5897	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179517014delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34667delA	2.37:g.179517014delT	ENSP00000465570:p.Lys11556fs					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11556fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10629fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.K13063fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		203	39412	-			11414					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.39188delA																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	1631						7	1631	---	---	---	---
DENND6A	201627	broad.mit.edu	37	3	57627438	57627438	+	Frame_Shift_Del	DEL	A	A	-	rs34959359		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:57627438delA	ENST00000311128.5	-	12	1144	c.1074delT	c.(1072-1074)tttfs	p.F358fs	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	358					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GTGTCTTAGCAAAAAAAGGGT	0.353																																						ENST00000311128.5																			0											c.(1072-1074)ttfs		DENN/MADD domain containing 6A							130.0	129.0	130.0					3																	57627438		2203	4300	6503	SO:0001589	frameshift_variant	201627							g.chr3:57627438delA	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1074delT	3.37:g.57627438delA	ENSP00000311401:p.Phe358fs					RP11-755B10.2_ENST00000470427.1_RNA	p.F358fs	NM_152678.2	NP_689891.1					12	1144	-								Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Del	DEL	ENST00000311128.5	37	c.1074delT	CCDS33773.1																																																																																				0.353	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		8	445						8	445	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	240						9	240	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_ENST00000508372.1_In_Frame_Del_p.Q55del|MMRN1_ENST00000264790.2_In_Frame_Del_p.Q313del|MMRN1_ENST00000394981.1_In_Frame_Del_p.Q279del			Q13201	MMRN1_HUMAN	multimerin 1	313	Poly-Gln.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(922-927)gag>g		multimerin 1																																				SO:0001651	inframe_deletion	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844391_90844393delAGC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.923_925delAGC	4.37:g.90844400_90844402delAGC	ENSP00000378431:p.Gln313del					MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del	p.EQ308del			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	1242_1244	+		Hepatocellular(203;0.114)	308					Q4W5L1|Q6P3T8|Q6ZUL9	In_Frame_Del	DEL	ENST00000394980.1	37	c.923_925delAGC	CCDS3635.1																																																																																				0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	1189						8	1189	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:190876218_190876219insAT	ENST00000226798.4	+	5	566_567	c.344_345insAT	c.(343-348)aaatatfs	p.KY115fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	115					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(343-345)atafs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876218_190876219insAT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.347_348dupAT	4.37:g.190876221_190876222dupAT	ENSP00000226798:p.Lys115fs					FRG1_ENST00000514482.1_3'UTR	p.I115fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	566_567	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	115					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.344_345insAT	CCDS34121.1																																																																																				0.361	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	587						8	587	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	200						7	200	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52397308	52397308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:52397308delT	ENST00000396954.3	-	5	935	c.258delA	c.(256-258)aaafs	p.K86fs	MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AGCTAATGACTTTTTTCCCTT	0.318																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(256-258)aafs		molybdenum cofactor synthesis 2							194.0	200.0	198.0					5																	52397308		2203	4300	6503	SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52397308delT	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.258delA	5.37:g.52397308delT	ENSP00000380157:p.Lys86fs					MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR	p.K86fs	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			5	935	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Frame_Shift_Del	DEL	ENST00000396954.3	37	c.258delA	CCDS3958.1																																																																																				0.318	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		8	1820						8	1820	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	1046						7	1046	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176710903	176710903	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:176710903delT	ENST00000439151.2	+	20	6170	c.6125delT	c.(6124-6126)cttfs	p.L2042fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2042	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTGTAGGCCTTTTTGCACTA	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6124-6126)ctfs		nuclear receptor binding SET domain protein 1							162.0	158.0	159.0					5																	176710903		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710903delT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6125delT	5.37:g.176710903delT	ENSP00000395929:p.Leu2042fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs	p.L2042fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6170	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2042			SET.		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.6125delT	CCDS4412.1																																																																																				0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		7	1077						7	1077	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	713						7	713	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96034896	96034897	+	Intron	DEL	TG	TG	-	rs200988008	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:96034896_96034897delTG	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Frame_Shift_Del_p.L194fs	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		tgtttgtgtctgtatatatgca	0.282														140	0.0279553	0.0098	0.0476	5008	,	,		13885	0.0		0.0736	False		,,,				2504	0.0204					ENST00000369293.1																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(580-582)cfs		mannosidase, endo-alpha				54,3170		10,34,1568						-4.9	0.0		dbSNP_132	16	401,5661		44,313,2674	no	intron	MANEA	NM_024641.3		54,347,4242	A1A1,A1R,RR		6.615,1.6749,4.8998				455,8831				SO:0001627	intron_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034896_96034897delTG	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+37TG>-	6.37:g.96034896_96034897delTG						MANEA_ENST00000358812.4_Intron	p.L194fs			Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	715_716	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	0			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Frame_Shift_Del	DEL	ENST00000358812.4	37	c.581_582delTG	CCDS5032.1																																																																																				0.282	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		17	161						17	161	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		9	964						9	964	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)aacfs	p.N204fs	ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTGTCAAAGTTTTTTTTTGC	0.378																																						ENST00000402384.3																			3	Deletion - Frameshift(3)	p.N204fs*5(3)	large_intestine(3)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(610-612)acfs		islet cell autoantigen 1, 69kDa							143.0	125.0	131.0					7																	8198251		2203	4300	6503	SO:0001589	frameshift_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198251delT		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.611delA	7.37:g.8198251delT	ENSP00000385570:p.Asn204fs					ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs	p.N204fs			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	877	-		Ovarian(82;0.0612)	204			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	ENST00000402384.3	37	c.611delA	CCDS34602.1																																																																																				0.378	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		8	563						8	563	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		11	583						11	583	---	---	---	---
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			7	19						7	19	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			8	59						8	59	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-	rs548021046	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	7						4	7	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aatfs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)aafs		olfactory receptor, family 9, subfamily A, member 4							152.0	152.0	152.0					7																	141619203		2056	4243	6299	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619203delT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.528delT	7.37:g.141619203delT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.N176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.528delT	CCDS43661.1																																																																																				0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		9	1156						9	1156	---	---	---	---
EPHA1-AS1	285965	broad.mit.edu	37	7	143208738	143208738	+	RNA	DEL	C	C	-	rs34333193|rs397889580	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:143208738delC	ENST00000429289.1	+	0	263				OR10AC1P_ENST00000439431.2_RNA	NR_033897.1				EPHA1 antisense RNA 1																		CCTGCGGTGGCCCCGGCGTGC	0.667													CCC|CCCC|CCC|insertion	3782	0.755192	0.9682	0.7767	5008	,	,		16064	0.5942		0.7207	False		,,,				2504	0.6534					ENST00000429289.1																			0																																																			0							g.chr7:143208738delC	AL833583		7q35	2012-10-12	2012-08-15		ENSG00000229153	ENSG00000229153		"""Long non-coding RNAs"""	27799	non-coding RNA	RNA, long non-coding			"""EPHA1 antisense RNA 1 (non-protein coding)"""				Standard	NR_033897		Approved		uc003wda.4		OTTHUMG00000155893		7.37:g.143208738delC								NR_033897.1						0	263	+									RNA	DEL	ENST00000429289.1	37																																																																																						0.667	EPHA1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000342151.1	NR_033897		9	13						9	13	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1011						7	1011	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34.0	37.0	36.0					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	11	327						11	327	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	535						7	535	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3109-3114)ggt>g		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001651	inframe_deletion	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11990430_11990432delCTT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3110_3112delAAG	10.37:g.11990439_11990441delCTT	ENSP00000348708:p.Glu1037del					UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del	p.EG1037del			Q9HAU5	RENT2_HUMAN			15	3583_3585	-		Renal(717;0.228)	1037			Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	In_Frame_Del	DEL	ENST00000356352.2	37	c.3110_3112delAAG	CCDS7086.1																																																																																				0.374	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			7	216						7	216	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61833451	61833453	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:61833451_61833453delTTC	ENST00000280772.2	-	37	7377_7379	c.7186_7188delGAA	c.(7186-7188)gaadel	p.E2396del	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2396	Poly-Glu.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGCAGTAAGTTCTTCTTCTTCT	0.438																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7186-7188)del		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833451_61833453delTTC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7186_7188delGAA	10.37:g.61833460_61833462delTTC	ENSP00000280772:p.Glu2396del					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.E2396del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7377_7379	-			2396			Poly-Glu.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.7186_7188delGAA	CCDS7258.1																																																																																				0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	433						7	433	---	---	---	---
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1999-2001)aafs		adducin 3 (gamma)							51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893350delA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs					ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	p.K669fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2364	+		Breast(234;0.052)|Lung NSC(174;0.223)	701					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	c.1999delA	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		7	593						7	593	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	638						7	638	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs56394515|rs574346914	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:66321927_66321928insA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													|||unknown(HR)	1645	0.328474	0.4433	0.2493	5008	,	,		13398	0.3323		0.3549	False		,,,				2504	0.1984					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321938_66321938dupA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		5	8						5	8	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	568						12	568	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		18	994						18	994	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445917	49445917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr12:49445917delC	ENST00000301067.7	-	10	1548	c.1549delG	c.(1549-1551)gagfs	p.E517fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	517	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGGGCGACTCCTCCAGTGGA	0.617																																						ENST00000301067.7																			0											c.(1549-1551)agfs		lysine (K)-specific methyltransferase 2D							46.0	52.0	50.0					12																	49445917		2049	4194	6243	SO:0001589	frameshift_variant	8085							g.chr12:49445917delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1549delG	12.37:g.49445917delC	ENSP00000301067:p.Glu517fs						p.E517fs	NM_003482.3	NP_003473.3					10	1548	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.1549delG	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			117	150						117	150	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(385-387)tttfs	p.F129fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(382-387)gattttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680156_101680157insT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.392dupT	12.37:g.101680164_101680164dupT	ENSP00000261637:p.Phe129fs						p.DF128fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	558_559	+			128					Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.384_385insT	CCDS9081.1																																																																																				0.396	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		12	1296						12	1296	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			8	106						8	106	---	---	---	---
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102.0	103.0	102.0					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			7	725						7	725	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			8	303						8	303	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20874475	20874477	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:20874475_20874477delCCT	ENST00000262715.5	-	3	690_692	c.650_652delAGG	c.(649-654)gaggtg>gtg	p.E217del	TEP1_ENST00000556935.1_In_Frame_Del_p.E217del	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	217					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGATCCTCCACCTCCTCCTCCTC	0.498																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(649-654)gtg>g		telomerase-associated protein 1																																				SO:0001651	inframe_deletion	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20874475_20874477delCCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.650_652delAGG	14.37:g.20874484_20874486delCCT	ENSP00000262715:p.Glu217del					TEP1_ENST00000556935.1_In_Frame_Del_p.EV217del	p.EV217del	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	690_692	-	all_cancers(95;0.00123)	all_lung(585;0.235)	217					A0AUV9	In_Frame_Del	DEL	ENST00000262715.5	37	c.650_652delAGG	CCDS9548.1																																																																																				0.498	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	380						7	380	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		11	157						11	157	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		10	1078						10	1078	---	---	---	---
FENDRR	400550	broad.mit.edu	37	16	86531072	86531073	+	lincRNA	INS	-	-	C	rs559694320		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:86531072_86531073insC	ENST00000595886.1	-	0	206					NR_033925.1				FOXF1 adjacent non-coding developmental regulatory RNA																		CTCCCAGGAcgccccccccgcc	0.723																																						ENST00000595886.1																			0																																																			0							g.chr16:86531072_86531073insC	AK091834		16q24.1	2014-01-03	2013-02-07	2013-02-07	ENSG00000268388	ENSG00000268388		"""Long non-coding RNAs"", ""-"""	43894	non-coding RNA	RNA, long non-coding		614975	"""FOXF1 antisense RNA 1 (head to head)"""	FOXF1-AS1		24381249, 23369715, 19571010, 23034409	Standard	NR_033925		Approved	lincFOXF1	uc021tmg.1		OTTHUMG00000183870		16.37:g.86531080_86531080dupC								NR_033925.1						0	206	-									RNA	INS	ENST00000595886.1	37																																																																																						0.723	FENDRR-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467210.1	NR_033925		3	3						3	3	---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39975559	39975559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:39975559delC	ENST00000321562.4	+	5	929	c.825delC	c.(823-825)ctcfs	p.L275fs	FKBP10_ENST00000544340.1_5'UTR	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	275					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGCTGGAGCTCCCCCCCGGCT	0.632																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(823-825)ctfs		FK506 binding protein 10, 65 kDa				27,6,4231		0,0,27,3,0,2102	52.0	57.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.8	0.4	17	dbSNP_133	55	15,9,8230		0,0,15,2,5,4105	no	codingComplex	FKBP10	NM_021939.3		0,0,42,5,5,6207	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.7739,0.4553			39975559	42,15,12461	2203	4300	6503	SO:0001589	frameshift_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975559delC	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.825delC	17.37:g.39975559delC	ENSP00000317232:p.Leu275fs					FKBP10_ENST00000544340.1_5'UTR	p.L275fs	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	5	929	+		Breast(137;0.00122)	275					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Frame_Shift_Del	DEL	ENST00000321562.4	37	c.825delC	CCDS11409.1																																																																																				0.632	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		11	445						11	445	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)caafs	p.Q510fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			1	Deletion - Frameshift(1)	p.N512fs*2(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1528-1530)cafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							71.0	73.0	72.0					17																	58740624		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740624delA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1529delA	17.37:g.58740624delA	ENSP00000306682:p.Gln510fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.Q510fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1761	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		510					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1529delA	CCDS11625.1																																																																																				0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		7	508						7	508	---	---	---	---
LSM7	51690	broad.mit.edu	37	19	2330586	2330587	+	5'Flank	DEL	GG	GG	-	rs111676128	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:2330586_2330587delGG	ENST00000252622.10	-	0	0				AC004410.3_ENST00000586111.2_RNA|SPPL2B_ENST00000452401.2_RNA	NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|spliceosomal complex (GO:0005681)	U6 snRNA binding (GO:0017070)			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATAATGCTGGAAGGAAGGGT	0.619														399	0.0796725	0.1785	0.0663	5008	,	,		15010	0.0		0.0984	False		,,,				2504	0.0184					ENST00000452401.2																			0													signal peptide peptidase like 2B																																				SO:0001631	upstream_gene_variant	56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2330586_2330587delGG	AF182293	CCDS45907.1	19p13.3	2008-05-02			ENSG00000130332	ENSG00000130332			20470	protein-coding gene	gene with protein product		607287				10523320, 12515382	Standard	NM_016199		Approved	YNL147W	uc002lvp.4	Q9UK45			19.37:g.2330586_2330587delGG	Exception_encountered					AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	146	+		Hepatocellular(1079;0.137)							RNA	DEL	ENST00000252622.10	37		CCDS45907.1																																																																																				0.619	LSM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451375.2			3	3						3	3	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:12384448delA	ENST00000356109.5	-	5	884	c.766delT	c.(766-768)tggfs	p.W256fs	ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398																																						ENST00000356109.5																			0				ovary(1)	1						c.(766-768)ggfs		zinc finger protein 44							88.0	93.0	92.0					19																	12384448		2203	4300	6503	SO:0001589	frameshift_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384448delA	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.766delT	19.37:g.12384448delA	ENSP00000348419:p.Trp256fs					ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	p.W256fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	884	-		Renal(1328;0.157)	256					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Frame_Shift_Del	DEL	ENST00000356109.5	37	c.766delT	CCDS54223.1																																																																																				0.398	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		8	685						8	685	---	---	---	---
ZNF90	7643	broad.mit.edu	37	19	20216076	20216076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:20216076delA	ENST00000418063.2	+	3	289	c.177delA	c.(175-177)ggafs	p.G59fs	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGCAAGGAAAAAAACCCT	0.393																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(175-177)ggfs		zinc finger protein 90							120.0	116.0	117.0					19																	20216076		692	1591	2283	SO:0001589	frameshift_variant	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20216076delA	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.177delA	19.37:g.20216076delA	ENSP00000410466:p.Gly59fs					ZNF90_ENST00000474284.1_3'UTR	p.G59fs	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			3	289	+			59			KRAB.		B9EH87	Frame_Shift_Del	DEL	ENST00000418063.2	37	c.177delA	CCDS46028.1																																																																																				0.393	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		7	812						7	812	---	---	---	---
MAP3K10	4294	broad.mit.edu	37	19	40697941	40697943	+	Start_Codon_Del	DEL	GGA	GGA	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:40697941_40697943delGGA	ENST00000253055.3	+	0	291_293					NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTCCCCCATGGAGGAGGAGGAG	0.773																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24								mitogen-activated protein kinase kinase kinase 10				17,2787		3,11,1388						4.2	1.0			3	42,5980		5,32,2974	no	coding	MAP3K10	NM_002446.3		8,43,4362	A1A1,A1R,RR		0.6974,0.6063,0.6685				59,8767				SO:0001582	initiator_codon_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40697941_40697943delGGA	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591		19.37:g.40697950_40697952delGGA								NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			0	291_293	+								Q12761|Q14871	Translation_Start_Site	DEL	ENST00000253055.3	37		CCDS12549.1																																																																																				0.773	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		3	6						3	6	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		7	112						7	112	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57908592	57908592	+	Intron	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:57908592delT	ENST00000366197.5	+	2	392				ZNF548_ENST00000336128.7_Intron|AC003002.4_ENST00000597658.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_Intron|ZNF548_ENST00000598895.1_Frame_Shift_Del_p.P76fs|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGTTACCCCTTTTTACCCAA	0.542																																						ENST00000598895.1																			0				breast(1)	1						c.(226-228)ccfs		zinc finger protein 548							155.0	153.0	153.0					19																	57908592		1327	2309	3636	SO:0001627	intron_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908592delT	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.142+50T>-	19.37:g.57908592delT						AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000366197.5_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	p.P76fs			Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	444	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	0			KRAB.		Q96M05	Frame_Shift_Del	DEL	ENST00000366197.5	37	c.228delT	CCDS46209.1																																																																																				0.542	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		7	1247						7	1247	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(3046-3048)agfs		activity-dependent neuroprotector homeobox							106.0	100.0	102.0					20																	49508204		2203	4300	6503	SO:0001589	frameshift_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508204delT	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3047delA	20.37:g.49508204delT	ENSP00000379346:p.Lys1016fs					ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs	p.K1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3614	-			1016					E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Del	DEL	ENST00000396029.3	37	c.3047delA	CCDS13433.1																																																																																				0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		12	557						12	557	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			10	580						10	580	---	---	---	---
AP000345.2	0	broad.mit.edu	37	22	23909807	23909808	+	RNA	DEL	AG	AG	-	rs372668974		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr22:23909807_23909808delAG	ENST00000458318.1	+	0	261				AP000345.2_ENST00000454863.1_RNA																							TAAGAGGGCCagagagagagag	0.609																																						ENST00000454863.1																			0																																																			0							g.chr22:23909807_23909808delAG																													22.37:g.23909817_23909818delAG						AP000345.2_ENST00000458318.1_RNA								0	261	+									RNA	DEL	ENST00000458318.1	37																																																																																						0.609	AP000345.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000319535.1			3	6						3	6	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1759-1764)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120323_38120325delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS587del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2015_2017	+	Melanoma(58;0.0574)		587					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	1182						7	1182	---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr22:41257115delT	ENST00000307221.4	-	1	1015	c.884delA	c.(883-885)aagfs	p.K296fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	296	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(883-885)agfs		DnaJ (Hsp40) homolog, subfamily B, member 7							105.0	100.0	102.0					22																	41257115		2203	4300	6503	SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257115delT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.884delA	22.37:g.41257115delT	ENSP00000307197:p.Lys296fs					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	p.K296fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	1015	-			296			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Del	DEL	ENST00000307221.4	37	c.884delA	CCDS14008.1																																																																																				0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		11	699						11	699	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046080	73046080	+	lincRNA	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGCCTGGCACTTTTTTTTCCC	0.423																																						ENST00000604411.1																			0																				118.0	116.0	117.0					X																	73046080		876	1991	2867			0							g.chrX:73046080delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046080delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34041	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.423	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	867						13	867	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70.0	74.0	72.0					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		7	469						7	469	---	---	---	---
