#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
ASPRV1	151516	broad.mit.edu	37	2	70188473	70188473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:70188473C>T	ENST00000320256.4	-	1	924	c.348G>A	c.(346-348)tgG>tgA	p.W116*	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTGTGCAGCCAGAGGTTTG	0.582																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(346-348)tgG>tgA		aspartic peptidase, retroviral-like 1							57.0	53.0	54.0					2																	70188473		2203	4300	6503	SO:0001587	stop_gained	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188473C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.348G>A	2.37:g.70188473C>T	ENSP00000315383:p.Trp116*						p.W116*	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	924	-			116						Nonsense_Mutation	SNP	ENST00000320256.4	37	c.348G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	38	7.272686	0.98179	.	.	ENSG00000244617	ENST00000320256	.	.	.	5.99	5.99	0.97316	.	0.151068	0.30723	N	0.009003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1769	15.9778	0.80083	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000315383:W116X	W	-	3	0	ASPRV1	70041977	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	3.754000	0.55189	2.840000	0.97914	0.655000	0.94253	TGG		0.582	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		94	124	0	0	0	1	0	94	124				
AFF3	3899	broad.mit.edu	37	2	100210198	100210198	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:100210198C>T	ENST00000409236.2	-	13	2037	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	AFF3_ENST00000356421.2_Missense_Mutation_p.R667H|AFF3_ENST00000317233.4_Missense_Mutation_p.R642H|AFF3_ENST00000409579.1_Missense_Mutation_p.R667H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	642					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGAGGAGCGCAGCTCCTT	0.657																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1924-1926)cGc>cAc		AF4/FMR2 family, member 3							46.0	50.0	49.0					2																	100210198		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210198C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1925G>A	2.37:g.100210198C>T	ENSP00000387207:p.Arg642His					AFF3_ENST00000356421.2_Missense_Mutation_p.R667H|AFF3_ENST00000409236.1_Missense_Mutation_p.R642H|AFF3_ENST00000409579.1_Missense_Mutation_p.R667H	p.R642H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2160	-			642					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1925G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132295	0.77662	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.87	4.87	0.63330	.	0.106321	0.39544	N	0.001335	T	0.79112	0.4391	M	0.76328	2.33	0.36093	D	0.843611	D;D;D	0.89917	1.0;0.995;0.993	D;P;P	0.71414	0.973;0.63;0.834	D	0.84661	0.0706	10	0.72032	D	0.01	.	11.1113	0.48235	0.0:0.9137:0.0:0.0863	.	795;642;667	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	642;667;667;642;642;795;667	ENSP00000317421:R642H;ENSP00000348793:R667H;ENSP00000386834:R667H;ENSP00000387207:R642H	ENSP00000317421:R642H	R	-	2	0	AFF3	99576630	.	.	0.977000	0.42913	0.932000	0.56968	.	.	2.426000	0.82243	0.561000	0.74099	CGC		0.657	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		111	142	0	0	0	1	0	111	142				
RANBP2	5903	broad.mit.edu	37	2	109380688	109380688	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:109380688C>T	ENST00000283195.6	+	20	3819	c.3693C>T	c.(3691-3693)cgC>cgT	p.R1231R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1231	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTAAAATTCGCCTTCTAATGA	0.378																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3691-3693)cgC>cgT		RAN binding protein 2							73.0	73.0	73.0					2																	109380688		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380688C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3693C>T	2.37:g.109380688C>T							p.R1231R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3819	+			1231			RanBD1 1.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.3693C>T	CCDS2079.1																																																																																				0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		72	291	0	0	0	1	0	72	291				
MGA	23269	broad.mit.edu	37	15	42059147	42059147	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:42059147C>G	ENST00000570161.1	+	23	8867	c.8867C>G	c.(8866-8868)gCa>gGa	p.A2956G	MGA_ENST00000389936.4_Missense_Mutation_p.A2917G|MGA_ENST00000566586.1_Missense_Mutation_p.A2747G|MGA_ENST00000545763.1_Missense_Mutation_p.A2747G|MGA_ENST00000219905.7_Missense_Mutation_p.A2956G			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCTCCCTGCAGAGCCCGAA	0.483																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8866-8868)gCa>gGa		MGA, MAX dimerization protein							52.0	52.0	52.0					15																	42059147		1925	4124	6049	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42059147C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8867C>G	15.37:g.42059147C>G	ENSP00000457035:p.Ala2956Gly					MGA_ENST00000389936.4_Missense_Mutation_p.A2917G|MGA_ENST00000566586.1_Missense_Mutation_p.A2747G|MGA_ENST00000545763.1_Missense_Mutation_p.A2747G|MGA_ENST00000570161.1_Missense_Mutation_p.A2956G	p.A2956G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	9048	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2917					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8867C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050195	0.36181	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87256	-2.2;-2.21;-2.23	5.65	4.73	0.59995	.	0.271725	0.25419	N	0.030809	T	0.79747	0.4499	L	0.27053	0.805	0.23806	N	0.996797	P;P	0.39480	0.675;0.546	B;B	0.35550	0.205;0.101	T	0.74884	-0.3512	10	0.87932	D	0	.	14.5098	0.67776	0.0:0.9306:0.0:0.0694	.	2747;2956	F5H7K2;E7ENI0	.;.	G	2956;2917;2747	ENSP00000219905:A2956G;ENSP00000374586:A2917G;ENSP00000442467:A2747G	ENSP00000219905:A2956G	A	+	2	0	MGA	39846439	0.401000	0.25303	0.999000	0.59377	0.915000	0.54546	0.849000	0.27723	1.631000	0.50456	0.655000	0.94253	GCA		0.483	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		13	130	0	0	0	1	0	13	130				
CLEC3A	10143	broad.mit.edu	37	16	78056626	78056626	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:78056626C>T	ENST00000575655.1	+	1	184	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R44C|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	35					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GCACAGCAAACGTCGAGTGAG	0.473																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(130-132)Cgt>Tgt		C-type lectin domain family 3, member A							107.0	84.0	92.0					16																	78056626		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78056626C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.103C>T	16.37:g.78056626C>T	ENSP00000460682:p.Arg35Cys					CLEC3A_ENST00000575655.1_Missense_Mutation_p.R35C|RP11-281J9.2_ENST00000563114.1_RNA	p.R44C	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			1	215	+			35					B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.130C>T		.	.	.	.	.	.	.	.	.	.	C	16.09	3.023093	0.54683	.	.	ENSG00000166509	ENST00000299642	T	0.07444	3.19	5.71	5.71	0.89125	.	0.111853	0.64402	D	0.000018	T	0.14313	0.0346	L	0.36672	1.1	0.54753	D	0.999984	D	0.89917	1.0	P	0.56088	0.791	T	0.00265	-1.1865	10	0.62326	D	0.03	-21.9609	10.9099	0.47103	0.1446:0.7157:0.1397:0.0	.	35	O75596	CLC3A_HUMAN	C	35	ENSP00000299642:R35C	ENSP00000299642:R35C	R	+	1	0	CLEC3A	76614127	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.486000	0.45259	2.687000	0.91594	0.655000	0.94253	CGT		0.473	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		32	95	0	0	0	1	0	32	95				
KIAA0513	9764	broad.mit.edu	37	16	85109479	85109479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:85109479C>T	ENST00000566428.1	+	5	1164	c.533C>T	c.(532-534)gCc>gTc	p.A178V	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A178V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A178V			O60268	K0513_HUMAN	KIAA0513	178						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TTTGGGCCTGCCAAGAACCTC	0.517																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(532-534)gCc>gTc		KIAA0513							224.0	153.0	177.0					16																	85109479		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85109479C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.533C>T	16.37:g.85109479C>T	ENSP00000457408:p.Ala178Val					KIAA0513_ENST00000538274.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A178V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A178V	p.A178V			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	5	1164	+			178					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.533C>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142126	0.94560	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36520	1.25;1.25	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.67945	-0.5539	10	0.87932	D	0	-11.0427	16.9234	0.86168	0.0:1.0:0.0:0.0	.	178;178	B4DSS5;O60268	.;K0513_HUMAN	V	178	ENSP00000446439:A178V;ENSP00000258180:A178V	ENSP00000258180:A178V	A	+	2	0	KIAA0513	83666980	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.794000	0.75135	2.339000	0.79563	0.561000	0.74099	GCC		0.517	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		7	173	0	0	0	1	0	7	173				
UGT1A6	54578	broad.mit.edu	37	2	234681097	234681097	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234681097C>T	ENST00000305139.6	+	5	1630	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	UGT1A3_ENST00000482026.1_Silent_p.V499V|UGT1A1_ENST00000608381.1_Silent_p.V499V|UGT1A9_ENST00000354728.4_Silent_p.V495V|UGT1A10_ENST00000344644.5_Silent_p.V495V|UGT1A6_ENST00000373424.1_Silent_p.V230V|UGT1A1_ENST00000608383.1_Silent_p.V498V|UGT1A1_ENST00000609767.1_Silent_p.V499V|UGT1A8_ENST00000305208.5_Silent_p.V498V|UGT1A1_ENST00000609637.1_Silent_p.V495V|UGT1A5_ENST00000373414.3_Silent_p.V499V|UGT1A7_ENST00000373426.3_Silent_p.V495V|UGT1A4_ENST00000373409.3_Silent_p.V499V|UGT1A1_ENST00000373450.4_Silent_p.V495V	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	497					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCTTGGCCGTCGTGCTGACAG	0.542																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1489-1491)gtC>gtT									182.0	143.0	156.0					2																	234681097		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234681097C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1491C>T	2.37:g.234681097C>T						UGT1A1_ENST00000305208.5_Silent_p.V498V|UGT1A4_ENST00000373409.3_Silent_p.V499V|UGT1A9_ENST00000354728.4_Silent_p.V495V|UGT1A10_ENST00000344644.5_Silent_p.V495V|UGT1A5_ENST00000373414.3_Silent_p.V499V|UGT1A3_ENST00000482026.1_Silent_p.V499V|UGT1A6_ENST00000373424.1_Silent_p.V230V|UGT1A7_ENST00000373426.3_Silent_p.V495V|UGT1A8_ENST00000373450.4_Silent_p.V495V	p.V497V	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	5	1630	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.1491C>T	CCDS2507.1																																																																																				0.542	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		203	244	0	0	0	1	0	203	244				
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:5771561C>A	ENST00000324331.6	+	7	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_ENST00000274680.4_Missense_Mutation_p.R419S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	419	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1255-1257)Cgc>Agc		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						167.0	124.0	138.0					6																	5771561		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5771561C>A	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1255C>A	6.37:g.5771561C>A	ENSP00000316335:p.Arg419Ser					FARS2_ENST00000274680.4_Missense_Mutation_p.R419S	p.R419S			O95363	SYFM_HUMAN			7	1591	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	419			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1255C>A	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036211	0.93630	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.78707	-1.2;-1.2	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92242	0.5801	10	0.87932	D	0	-29.0672	18.6464	0.91411	0.0:1.0:0.0:0.0	.	419	O95363	SYFM_HUMAN	S	419	ENSP00000274680:R419S;ENSP00000316335:R419S	ENSP00000274680:R419S	R	+	1	0	FARS2	5716560	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.724000	0.74747	2.746000	0.94184	0.655000	0.94253	CGC		0.592	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		108	113	1	0	1.01947e-62	1	1.1705e-62	108	113				
NLRP13	126204	broad.mit.edu	37	19	56424179	56424179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:56424179C>A	ENST00000342929.3	-	5	1003	c.1004G>T	c.(1003-1005)tGg>tTg	p.W335L	NLRP13_ENST00000588751.1_Missense_Mutation_p.W335L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	335	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCCTGGTACCAGTCTGTACA	0.463																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1003-1005)tGg>tTg		NLR family, pyrin domain containing 13							91.0	89.0	89.0					19																	56424179		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424179C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1004G>T	19.37:g.56424179C>A	ENSP00000343891:p.Trp335Leu					NLRP13_ENST00000342929.3_Missense_Mutation_p.W335L	p.W335L			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1028	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	335			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1004G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039074	0.35989	.	.	ENSG00000173572	ENST00000342929	T	0.73152	-0.72	2.81	1.73	0.24493	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78898	0.4356	M	0.66439	2.03	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64162	-0.6472	9	0.54805	T	0.06	.	6.3364	0.21298	0.0:0.8427:0.0:0.1573	.	335	Q86W25	NAL13_HUMAN	L	335	ENSP00000343891:W335L	ENSP00000343891:W335L	W	-	2	0	NLRP13	61115991	0.004000	0.15560	0.012000	0.15200	0.040000	0.13550	0.727000	0.25999	0.488000	0.27723	0.591000	0.81541	TGG		0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		170	319	1	0	2.92728e-61	1	3.34033e-61	170	319				
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A	rs199628089		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1810-1812)cGg>cAg		heat shock protein 90kDa alpha (cytosolic), class B member 1							61.0	63.0	63.0					6																	44220861		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44220861G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1811G>A	6.37:g.44220861G>A	ENSP00000360609:p.Arg604Gln					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q	p.R604Q			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2025	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		604					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.1811G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450487	0.96205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.51574	0.7;0.7;0.7	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.54159	0.1841	M	0.83953	2.67	0.80722	D	1	D;D;D	0.65815	0.995;0.989;0.989	P;P;P	0.50314	0.637;0.637;0.541	T	0.65076	-0.6256	10	0.62326	D	0.03	-11.7731	17.2754	0.87113	0.0:0.0:1.0:0.0	.	566;594;604	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Q	604	ENSP00000360709:R604Q;ENSP00000325875:R604Q;ENSP00000360609:R604Q	ENSP00000325875:R604Q	R	+	2	0	HSP90AB1	44328839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.265000	0.75225	0.508000	0.49915	CGG		0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		9	447	0	0	0	1	0	9	447				
TRDN	10345	broad.mit.edu	37	6	123824955	123824955	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:123824955A>G	ENST00000398178.3	-	8	723	c.702T>C	c.(700-702)gcT>gcC	p.A234A	TRDN_ENST00000546248.1_Silent_p.A234A|TRDN_ENST00000334268.4_Silent_p.A234A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	234					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACTTTTGCAGCTGTTTGCT	0.368																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(700-702)gcT>gcC		triadin							221.0	196.0	204.0					6																	123824955		1862	4107	5969	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123824955A>G	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.702T>C	6.37:g.123824955A>G						TRDN_ENST00000398178.3_Silent_p.A234A|TRDN_ENST00000546248.1_Silent_p.A234A	p.A234A			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	8	1019	-			234					A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.702T>C	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	A	8.659	0.900010	0.17686	.	.	ENSG00000186439	ENST00000361029	.	.	.	5.71	1.57	0.23409	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.30880	-0.9963	4	.	.	.	0.212	5.3925	0.16251	0.4117:0.299:0.0:0.2893	.	.	.	.	P	73	.	.	L	-	2	0	TRDN	123866654	0.029000	0.19370	0.299000	0.25016	0.906000	0.53458	0.239000	0.18023	0.368000	0.24481	0.533000	0.62120	CTG		0.368	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	91	0	0	0	1	0	4	91				
SNX7	51375	broad.mit.edu	37	1	99167440	99167440	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:99167440A>G	ENST00000306121.3	+	7	1115	c.1106A>G	c.(1105-1107)aAa>aGa	p.K369R	SNX7_ENST00000529992.1_Missense_Mutation_p.K314R|SNX7_ENST00000370189.5_Missense_Mutation_p.K305R	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	305					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGACCTATAAAAAGGCAGAT	0.308																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(913-915)aAa>aGa		sorting nexin 7							127.0	148.0	141.0					1																	99167440		2203	4290	6493	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99167440A>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1106A>G	1.37:g.99167440A>G	ENSP00000304429:p.Lys369Arg					SNX7_ENST00000529992.1_Missense_Mutation_p.K314R|SNX7_ENST00000306121.3_Missense_Mutation_p.K369R	p.K305R			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	8	1278	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	305					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.914A>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	8.372	0.835519	0.16820	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.32023	1.92;1.47;1.47	5.21	4.07	0.47477	.	0.200162	0.52532	D	0.000079	T	0.11110	0.0271	L	0.38175	1.15	0.46336	D	0.99899	B;B;B	0.21606	0.007;0.058;0.058	B;B;B	0.25987	0.009;0.065;0.065	T	0.06041	-1.0849	10	0.21014	T	0.42	-33.3923	11.264	0.49099	0.9273:0.0:0.0727:0.0	.	314;369;305	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	R	305;314;369	ENSP00000359208:K305R;ENSP00000434731:K314R;ENSP00000304429:K369R	ENSP00000304429:K369R	K	+	2	0	SNX7	98940028	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	1.917000	0.39996	0.916000	0.36871	0.377000	0.23210	AAA		0.308	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			110	487	0	0	0	1	0	110	487				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		8	283	1	0	2.23348e-06	1	2.32083e-06	8	283				
RTN1	6252	broad.mit.edu	37	14	60212959	60212959	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:60212959A>T	ENST00000267484.5	-	2	817	c.482T>A	c.(481-483)tTa>tAa	p.L161*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	161					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGAACTAAATAAGCCACGAGA	0.517																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(481-483)tTa>tAa		reticulon 1							70.0	72.0	71.0					14																	60212959		2203	4300	6503	SO:0001587	stop_gained	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212959A>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.482T>A	14.37:g.60212959A>T	ENSP00000267484:p.Leu161*						p.L161*	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	817	-			161					Q16800|Q16801|Q5BKZ4|Q9BQ59	Nonsense_Mutation	SNP	ENST00000267484.5	37	c.482T>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	38	6.805722	0.97853	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	.	.	.	5.48	4.35	0.52113	.	0.874410	0.10088	N	0.717513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7742	0.46340	0.9255:0.0:0.0745:0.0	.	.	.	.	X	161;87	.	ENSP00000267484:L161X	L	-	2	0	RTN1	59282712	1.000000	0.71417	0.981000	0.43875	0.734000	0.41952	4.173000	0.58249	2.079000	0.62486	0.455000	0.32223	TTA		0.517	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			37	439	0	0	0	1	0	37	439				
FANK1	92565	broad.mit.edu	37	10	127677374	127677374	+	Intron	SNP	A	A	G	rs2280173	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:127677374A>G	ENST00000368693.1	+	3	420				FANK1_ENST00000449042.2_Missense_Mutation_p.N143S|FANK1_ENST00000368689.1_Intron|FANK1_ENST00000368695.1_Intron			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAACACTGCAATAATATTTGC	0.378													A|||	1653	0.330072	0.1989	0.2911	5008	,	,		23002	0.3333		0.3917	False		,,,				2504	0.4683					ENST00000449042.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(427-429)aAt>aGt		fibronectin type III and ankyrin repeat domains 1																																				SO:0001627	intron_variant	92565					cytoplasm|nucleus		g.chr10:127677374A>G	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.316+130A>G	10.37:g.127677374A>G						FANK1_ENST00000368689.1_Intron|FANK1_ENST00000368695.1_Intron|FANK1_ENST00000368693.1_Intron	p.N143S			Q8TC84	FANK1_HUMAN			4	601	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	0					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.428A>G	CCDS31309.1	721	0.3301282051282051	100	0.2032520325203252	114	0.3149171270718232	207	0.3618881118881119	300	0.39577836411609496	A	3.188	-0.166354	0.06461	.	.	ENSG00000203780	ENST00000449042	T	0.36520	1.25	2.65	0.31	0.15825	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.21071	0.051	B	0.14023	0.01	T	0.48115	-0.9063	6	.	.	.	.	4.3199	0.11011	0.6482:0.0:0.3518:0.0	rs2280173;rs58029621;rs2280173	143	B7Z939	.	S	143	ENSP00000411388:N143S	.	N	+	2	0	FANK1	127667364	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.589000	0.05767	0.038000	0.15604	0.528000	0.53228	AAT		0.378	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		4	88	0	0	0	1	0	4	88				
PLXNB1	5364	broad.mit.edu	37	3	48452387	48452387	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48452387A>C	ENST00000358536.4	-	29	5575	c.5306T>G	c.(5305-5307)gTg>gGg	p.V1769G	PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1586G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V380G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1586G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1769G|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1769					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGGACCTTCACGGGCACGCC	0.597																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5305-5307)gTg>gGg		plexin B1							63.0	56.0	58.0					3																	48452387		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48452387A>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5306T>G	3.37:g.48452387A>C	ENSP00000351338:p.Val1769Gly					PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1586G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1586G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V380G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1769G	p.V1769G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	5575	-			1769					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5306T>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767802	0.69878	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.97	4.97	0.65823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.268971	0.36932	N	0.002337	T	0.45756	0.1358	M	0.90082	3.085	0.80722	D	1	P;D	0.59357	0.885;0.985	D;D	0.76575	0.97;0.988	T	0.52139	-0.8615	10	0.87932	D	0	.	8.4434	0.32828	0.9023:0.0:0.0977:0.0	.	1769;1586	O43157;O43157-2	PLXB1_HUMAN;.	G	1769;1586;1769;380;1586	ENSP00000296440:V1769G;ENSP00000351242:V1586G;ENSP00000351338:V1769G;ENSP00000389320:V380G;ENSP00000414199:V1586G	ENSP00000296440:V1769G	V	-	2	0	PLXNB1	48427391	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	5.895000	0.69814	1.851000	0.53745	0.533000	0.62120	GTG		0.597	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		16	104	0	0	0	1	0	16	104				
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:35630161C>T	ENST00000400445.3	+	7	1521	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000540320.1_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	329					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(985-987)agC>agT		neurobeachin							161.0	143.0	148.0					13																	35630161		1848	4085	5933	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630161C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.987C>T	13.37:g.35630161C>T						NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S	p.S329S			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1521	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	329					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.987C>T	CCDS45026.1																																																																																				0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	225	0	0	0	1	0	7	225				
CCR10	2826	broad.mit.edu	37	17	40831612	40831612	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:40831612A>C	ENST00000332438.4	-	2	1067	c.1048T>G	c.(1048-1050)Tca>Gca	p.S350A	PLEKHH3_ENST00000293349.6_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.S128A|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000591022.1_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	350					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTGGGAGCTGAGCAGGAAGAA	0.697																																						ENST00000591765.1																			0				lung(1)|ovary(1)|skin(1)	3						c.(382-384)Tca>Gca		chemokine (C-C motif) receptor 10							20.0	22.0	22.0					17																	40831612		2198	4278	6476	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40831612A>C	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.1048T>G	17.37:g.40831612A>C	ENSP00000332504:p.Ser350Ala					CCR10_ENST00000332438.4_Missense_Mutation_p.S350A	p.S128A			P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	1767	-		Breast(137;0.000153)	350					Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.382T>G	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484634	0.63962	.	.	ENSG00000184451	ENST00000332438	T	0.66995	-0.24	3.91	3.91	0.45181	.	0.000000	0.31747	U	0.007140	T	0.40498	0.1119	N	0.08118	0	0.27245	N	0.959051	P	0.37708	0.606	B	0.34138	0.176	T	0.38045	-0.9679	10	0.66056	D	0.02	.	5.8244	0.18546	0.8805:0.0:0.1195:0.0	.	350	P46092	CCR10_HUMAN	A	350	ENSP00000332504:S350A	ENSP00000332504:S350A	S	-	1	0	CCR10	38085138	0.932000	0.31603	0.988000	0.46212	0.965000	0.64279	2.176000	0.42500	1.630000	0.50440	0.260000	0.18958	TCA		0.697	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		22	115	0	0	0	1	0	22	115				
CSPG4	1464	broad.mit.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A	rs200866227		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1045-1047)gCc>gTc		chondroitin sulfate proteoglycan 4							14.0	13.0	13.0					15																	75982360		2186	4278	6464	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982360G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1046C>T	15.37:g.75982360G>A	ENSP00000312506:p.Ala349Val						p.A349V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1138	-			349			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1046C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	9.028	0.986482	0.18889	.	.	ENSG00000173546	ENST00000308508	T	0.78595	-1.19	5.26	-1.25	0.09405	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.407880	0.04170	N	0.324555	T	0.58921	0.2156	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41538	-0.9503	10	0.12766	T	0.61	.	7.2785	0.26297	0.4345:0.0:0.4544:0.1111	.	349	Q6UVK1	CSPG4_HUMAN	V	349	ENSP00000312506:A349V	ENSP00000312506:A349V	A	-	2	0	CSPG4	73769415	0.000000	0.05858	0.032000	0.17829	0.867000	0.49689	-0.051000	0.11885	-0.106000	0.12110	0.555000	0.69702	GCC		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	107	0	0	0	1	0	8	107				
DNM1P47	100216544	broad.mit.edu	37	15	102304770	102304770	+	RNA	SNP	C	C	T	rs62026988	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:102304770C>T	ENST00000561463.1	+	0	12816									DNM1 pseudogene 47																		GGCACAGCGGCGTGACGAGAC	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102304770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304770C>T														0	12816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	72	0	0	0	1	0	4	72				
XIRP2	129446	broad.mit.edu	37	2	167760152	167760152	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:167760152C>G	ENST00000409728.1	+	2	249	c.160C>G	c.(160-162)Cct>Gct	p.P54A	XIRP2_ENST00000409756.2_Missense_Mutation_p.P54A|XIRP2_ENST00000409195.1_Missense_Mutation_p.P54A|XIRP2_ENST00000420519.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409043.1_Missense_Mutation_p.P54A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P54A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTATCAGCACCTCAATCTTT	0.483																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(160-162)Cct>Gct		xin actin-binding repeat containing 2							76.0	75.0	75.0					2																	167760152		1953	4134	6087	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760152C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.160C>G	2.37:g.167760152C>G	ENSP00000386619:p.Pro54Ala					XIRP2_ENST00000420519.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P54A|XIRP2_ENST00000409043.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409728.1_Missense_Mutation_p.P54A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P54A	p.P54A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	249	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.160C>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466969	0.26335	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.11;-1.12;4.23;-1.11;-1.12;4.23	5.36	0.683	0.17998	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.003	T	0.43814	-0.9368	8	0.34782	T	0.22	-0.0031	2.5668	0.04785	0.4339:0.3322:0.1359:0.0979	.	54;54	A4UGR9-4;A4UGR9-6	.;.	A	54	ENSP00000386454:P54A;ENSP00000386619:P54A;ENSP00000386840:P54A;ENSP00000386724:P54A;ENSP00000415541:P54A;ENSP00000295237:P54A	ENSP00000295237:P54A	P	+	1	0	XIRP2	167468398	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.607000	0.05648	0.179000	0.19938	-0.119000	0.15052	CCT		0.483	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		116	104	0	0	0	1	0	116	104				
ANKS1A	23294	broad.mit.edu	37	6	35050548	35050548	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:35050548C>T	ENST00000360359.3	+	18	2928	c.2790C>T	c.(2788-2790)caC>caT	p.H930H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	930					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTTGGCAACACCAGCCAGAGA	0.632																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2788-2790)caC>caT		ankyrin repeat and sterile alpha motif domain containing 1A							91.0	76.0	81.0					6																	35050548		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:35050548C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2790C>T	6.37:g.35050548C>T						ANKS1A_ENST00000535627.1_Intron	p.H930H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			18	2928	+			930					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.2790C>T	CCDS4798.1																																																																																				0.632	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		11	195	0	0	0	1	0	11	195				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		10	313	0	0	0	1	0	10	313				
NCOR2	9612	broad.mit.edu	37	12	124825185	124825185	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124825185G>A	ENST00000405201.1	-	35	5301	c.5301C>T	c.(5299-5301)ccC>ccT	p.P1767P	NCOR2_ENST00000397355.1_Silent_p.P1758P|NCOR2_ENST00000404621.1_Silent_p.P1757P|NCOR2_ENST00000429285.2_Silent_p.P1757P|NCOR2_ENST00000356219.3_Silent_p.P1774P|NCOR2_ENST00000404121.2_Silent_p.P1328P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1775					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCTGCTGAAGGGCTGGGGCG	0.716																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5320-5322)ccC>ccT		nuclear receptor corepressor 2							11.0	18.0	16.0					12																	124825185		1994	4131	6125	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124825185G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5301C>T	12.37:g.124825185G>A						NCOR2_ENST00000429285.2_Silent_p.P1757P|NCOR2_ENST00000405201.1_Silent_p.P1767P|NCOR2_ENST00000404621.1_Silent_p.P1757P|NCOR2_ENST00000404121.2_Silent_p.P1328P|NCOR2_ENST00000397355.1_Silent_p.P1758P	p.P1774P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	36	5477	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1775					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5322C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214083	0.22289	.	.	ENSG00000196498	ENST00000453428	.	.	.	4.13	1.18	0.20946	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-8.7802	8.8098	0.34961	0.3199:0.0:0.6801:0.0	.	.	.	.	F	97	.	.	L	-	1	0	NCOR2	123391138	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.065000	0.30592	0.730000	0.32425	-0.339000	0.08088	CTT		0.716	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		11	33	0	0	0	1	0	11	33				
DST	667	broad.mit.edu	37	6	56393693	56393693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:56393693G>A	ENST00000361203.3	-	62	16673	c.16666C>T	c.(16666-16668)Caa>Taa	p.Q5556*	DST_ENST00000370788.2_Nonsense_Mutation_p.Q3470*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q3253*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3579*|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.Q5341*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5667*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q5845*			Q03001	DYST_HUMAN	dystonin	5556					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTACATTTTGTTTCCTGAGT	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(17533-17535)Caa>Taa		dystonin							138.0	124.0	128.0					6																	56393693		1829	4093	5922	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56393693G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16666C>T	6.37:g.56393693G>A	ENSP00000354508:p.Gln5556*					DST_ENST00000361203.3_Nonsense_Mutation_p.Q5556*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3579*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q5341*|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q3253*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q3470*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5667*	p.Q5845*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		67	17532	-	Lung NSC(77;0.103)		5665					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.17533C>T		.	.	.	.	.	.	.	.	.	.	G	57	27.657609	0.99972	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.4	4.53	0.55603	.	0.150799	0.30630	N	0.009214	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.8092	0.78543	0.0:0.1367:0.8633:0.0	.	.	.	.	X	3253;5845;5667;3579;5341;3470;5556	.	ENSP00000244364:Q3253X	Q	-	1	0	DST	56501652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.257000	0.58816	1.273000	0.44346	0.655000	0.94253	CAA		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	22	0	0	0	1	0	9	22				
ATP6V0A2	23545	broad.mit.edu	37	12	124242536	124242536	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124242536G>C	ENST00000330342.3	+	20	2776	c.2528G>C	c.(2527-2529)aGt>aCt	p.S843T	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S125T	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	843					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTCTCATTCAGTCTACTTTCA	0.348																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2527-2529)aGt>aCt		ATPase, H+ transporting, lysosomal V0 subunit a2							126.0	113.0	117.0					12																	124242536		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124242536G>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2528G>C	12.37:g.124242536G>C	ENSP00000332247:p.Ser843Thr					ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S125T|ATP6V0A2_ENST00000543687.1_3'UTR	p.S843T	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	20	2776	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		843					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2528G>C	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346017	0.24426	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.88277	-1.84;-2.35;-2.36	5.71	4.73	0.59995	.	1.007950	0.07933	N	0.977859	T	0.81356	0.4805	N	0.25286	0.73	0.24219	N	0.995444	B	0.15141	0.012	B	0.21917	0.037	T	0.68985	-0.5265	10	0.56958	D	0.05	-0.158	3.2212	0.06716	0.5876:0.0:0.4124:0.0	.	843	Q9Y487	VPP2_HUMAN	T	843;123;125	ENSP00000332247:S843T;ENSP00000443726:S123T;ENSP00000441143:S125T	ENSP00000332247:S843T	S	+	2	0	ATP6V0A2	122808489	1.000000	0.71417	0.922000	0.36590	0.474000	0.32979	2.844000	0.48246	1.312000	0.45043	0.655000	0.94253	AGT		0.348	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		12	148	0	0	0	1	0	12	148				
ATM	472	broad.mit.edu	37	11	108124539	108124539	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:108124539A>C	ENST00000452508.2	+	14	2087		c.e14-1		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACTTTCTTGAAGTGAACACCA	0.294			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CS014124	ATM	S		c.e13-1	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							44.0	45.0	45.0					11																	108124539		2200	4297	6497	SO:0001630	splice_region_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108124539A>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1899-1A>C	11.37:g.108124539A>C		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Splice_Site		NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	13	2283	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)						B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37		CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142880	0.57044	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0753	0.64887	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107629749	1.000000	0.71417	0.997000	0.53966	0.722000	0.41435	5.502000	0.66956	2.343000	0.79666	0.533000	0.62120	.		0.294	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron	99	65	0	0	0	1	0	99	65				
DNMT3A	1788	broad.mit.edu	37	2	25467064	25467064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:25467064C>T	ENST00000264709.3	-	15	2148	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R415Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R381Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R604Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	604	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGGAGCCGGGAGGGCCA	0.632			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1810-1812)cGg>cAg		DNA (cytosine-5-)-methyltransferase 3 alpha							29.0	35.0	33.0					2																	25467064		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467064C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1811G>A	2.37:g.25467064C>T	ENSP00000264709:p.Arg604Gln					DNMT3A_ENST00000321117.5_Missense_Mutation_p.R604Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R381Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R415Q	p.R604Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2148	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		604			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1811G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763733	0.89932	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.15	4.27	0.50696	Zinc finger, FYVE/PHD-type (1);	0.051639	0.85682	N	0.000000	T	0.66107	0.2756	L	0.35854	1.095	0.80722	D	1	D;D	0.69078	0.989;0.997	B;B	0.38954	0.286;0.244	T	0.67019	-0.5776	10	0.42905	T	0.14	-7.4116	12.4839	0.55861	0.0:0.9179:0.0:0.0821	.	604;415	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	415;604;604;381	ENSP00000370122:R415Q;ENSP00000324375:R604Q;ENSP00000264709:R604Q;ENSP00000384237:R381Q	ENSP00000264709:R604Q	R	-	2	0	DNMT3A	25320568	0.999000	0.42202	0.674000	0.29902	0.985000	0.73830	4.076000	0.57591	1.163000	0.42636	0.655000	0.94253	CGG		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		39	154	0	0	0	1	0	39	154				
ZNF611	81856	broad.mit.edu	37	19	53209243	53209243	+	Silent	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:53209243T>C	ENST00000319783.1	-	7	1381	c.1065A>G	c.(1063-1065)caA>caG	p.Q355Q	ZNF611_ENST00000453741.2_Silent_p.Q286Q|ZNF611_ENST00000543227.1_Silent_p.Q355Q|ZNF611_ENST00000602162.1_Silent_p.Q286Q|ZNF611_ENST00000595798.1_Silent_p.Q286Q|ZNF611_ENST00000540744.1_Silent_p.Q355Q|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAGTTGTGATTGTTGATTAA	0.343																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1063-1065)caA>caG		zinc finger protein 611							56.0	57.0	57.0					19																	53209243		2202	4299	6501	SO:0001819	synonymous_variant	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209243T>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1065A>G	19.37:g.53209243T>C						ZNF611_ENST00000602162.1_Silent_p.Q286Q|ZNF611_ENST00000319783.1_Silent_p.Q355Q|ZNF611_ENST00000595798.1_Silent_p.Q286Q|ZNF611_ENST00000453741.2_Silent_p.Q286Q|ZNF611_ENST00000540744.1_Silent_p.Q355Q	p.Q355Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1339	-			355					B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	c.1065A>G	CCDS12855.1																																																																																				0.343	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		197	337	0	0	0	1	0	197	337				
MST1L	11223	broad.mit.edu	37	1	17083650	17083650	+	RNA	SNP	A	A	G	rs397726365		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:17083650A>G	ENST00000455405.2	-	0	938							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ttaaatctcaaccttgagtac	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083650A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083650A>G														0	938	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		7	230	0	0	0	1	0	7	230				
ABHD1	84696	broad.mit.edu	37	2	27351452	27351452	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:27351452C>T	ENST00000316470.4	+	2	372	c.258C>T	c.(256-258)ccC>ccT	p.P86P		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	86						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTCAGCCCCTAGTCCTTT	0.473																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(256-258)ccC>ccT		abhydrolase domain containing 1							129.0	119.0	122.0					2																	27351452		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27351452C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.258C>T	2.37:g.27351452C>T							p.P86P	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			2	372	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		86					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.258C>T	CCDS1736.1																																																																																				0.473	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		176	240	0	0	0	1	0	176	240				
FBXL16	146330	broad.mit.edu	37	16	744694	744694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:744694G>T	ENST00000397621.1	-	5	1562	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K	FBXL16_ENST00000324361.5_Missense_Mutation_p.Q411K|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000562563.1_Missense_Mutation_p.Q199K|LA16c-313D11.12_ENST00000566927.1_RNA	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	411										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CCGAAGTCTTGCACCTGTCGG	0.657																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(1231-1233)Caa>Aaa		F-box and leucine-rich repeat protein 16							51.0	46.0	48.0					16																	744694		2195	4294	6489	SO:0001583	missense	146330							g.chr16:744694G>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.1231C>A	16.37:g.744694G>T	ENSP00000380746:p.Gln411Lys					FBXL16_ENST00000324361.5_Missense_Mutation_p.Q411K|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000562563.1_Missense_Mutation_p.Q199K	p.Q411K	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			5	1562	-		Hepatocellular(780;0.0218)	411					B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.1231C>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082644	0.36758	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.02345	4.33;4.33	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	N	0.05259	-0.085	0.53688	D	0.999979	B	0.14805	0.011	B	0.10450	0.005	T	0.59716	-0.7402	10	0.39692	T	0.17	.	15.9902	0.80199	0.0:0.0:1.0:0.0	.	411	Q8N461	FXL16_HUMAN	K	411	ENSP00000380746:Q411K;ENSP00000318674:Q411K	ENSP00000318674:Q411K	Q	-	1	0	FBXL16	684695	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.849000	0.92178	2.347000	0.79759	0.556000	0.70494	CAA		0.657	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		4	51	1	0	0.00909568	1	0.00914485	4	51				
DNAJB7	150353	broad.mit.edu	37	22	41257516	41257516	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:41257516A>G	ENST00000307221.4	-	1	614	c.483T>C	c.(481-483)ggT>ggC	p.G161G	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	161							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GCCCCAATGAACCCTGTGATG	0.378																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(481-483)ggT>ggC		DnaJ (Hsp40) homolog, subfamily B, member 7							89.0	90.0	90.0					22																	41257516		2203	4300	6503	SO:0001819	synonymous_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257516A>G	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.483T>C	22.37:g.41257516A>G						XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	p.G161G	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	614	-			161					Q2M220|Q5H904|Q8WYJ7	Silent	SNP	ENST00000307221.4	37	c.483T>C	CCDS14008.1																																																																																				0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		115	555	0	0	0	1	0	115	555				
PRDM7	11105	broad.mit.edu	37	16	90160926	90160926	+	5'Flank	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:90160926G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ATGCCCTCCCGCCCCACGCAG	0.726																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160926G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160926G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	877	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.726	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			23	65	0	0	0	1	0	23	65				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>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.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	222	0	0	0	1	0	6	222				
TMEM260	54916	broad.mit.edu	37	14	57085396	57085396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:57085396C>T	ENST00000261556.6	+	10	1263	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.R381*	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	381						integral component of membrane (GO:0016021)											TGAGACTAACCGAGTGCTGAA	0.443																																						ENST00000261556.6																			0											c.(1141-1143)Cga>Tga		transmembrane protein 260							148.0	127.0	134.0					14																	57085396		2203	4300	6503	SO:0001587	stop_gained	54916							g.chr14:57085396C>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1141C>T	14.37:g.57085396C>T	ENSP00000261556:p.Arg381*					TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.R381*	p.R381*	NM_017799.3	NP_060269.3					10	1263	+								A8KAN4|B3KPF5|Q86XE1	Nonsense_Mutation	SNP	ENST00000261556.6	37	c.1141C>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266182	0.40095	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	.	.	.	6.04	2.98	0.34508	.	0.308918	0.32624	N	0.005852	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9406	7.4557	0.27266	0.4733:0.4342:0.0:0.0925	.	.	.	.	X	381	.	ENSP00000261556:R381X	R	+	1	2	C14orf101	56155149	0.008000	0.16893	0.125000	0.21846	0.010000	0.07245	0.615000	0.24329	0.445000	0.26639	-2.889000	0.00095	CGA		0.443	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		71	304	0	0	0	1	0	71	304				
BCKDHA	593	broad.mit.edu	37	19	41931793	41931793	+	IGR	SNP	G	G	A	rs147647792		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:41931793G>A	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank|B3GNT8_ENST00000321702.2_Silent_p.F297F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGCCACCTTCGAAGAAGGACT	0.667																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(889-891)ttC>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8		G		0,4404		0,0,2202	27.0	29.0	28.0		891	-7.1	0.1	19	dbSNP_134	28	1,8591		0,1,4295	no	coding-synonymous	B3GNT8	NM_198540.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		297/398	41931793	1,12995	2202	4296	6498	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931793G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931793G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.F297F	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1344	-			297					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.891C>T	CCDS12581.1																																																																																				0.667	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	232	0	0	0	1	0	7	232				
THAP2	83591	broad.mit.edu	37	12	72068117	72068117	+	Missense_Mutation	SNP	G	G	A	rs187725552	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:72068117G>A	ENST00000308086.2	+	2	1707	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R45Q	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	69						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						GGACAAACTCGACGACTTAAA	0.373																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(205-207)cGa>cAa		THAP domain containing, apoptosis associated protein 2		G	GLN/ARG	0,4406		0,0,2203	124.0	122.0	123.0		206	6.1	1.0	12		123	4,8596	3.7+/-12.6	0,4,4296	yes	missense	THAP2	NM_031435.3	43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	69/229	72068117	4,13002	2203	4300	6503	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72068117G>A	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.206G>A	12.37:g.72068117G>A	ENSP00000310796:p.Arg69Gln					RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R45Q	p.R69Q	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			2	1707	+			69					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.206G>A	CCDS9001.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.6	4.311762	0.81358	0.0	4.65E-4	ENSG00000173451	ENST00000308086	D	0.96522	-4.04	6.08	6.08	0.98989	Zinc finger, C2CH-type (4);	0.203595	0.31519	N	0.007503	D	0.96759	0.8942	M	0.63208	1.945	0.80722	D	1	D	0.71674	0.998	P	0.58172	0.834	D	0.95628	0.8687	10	0.42905	T	0.14	.	13.0242	0.58806	0.0:0.0:0.839:0.161	.	69	Q9H0W7	THAP2_HUMAN	Q	69	ENSP00000310796:R69Q	ENSP00000310796:R69Q	R	+	2	0	THAP2	70354384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.873000	0.39558	2.890000	0.99128	0.655000	0.94253	CGA		0.373	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		20	776	0	0	0	1	0	20	776				
ANXA11	311	broad.mit.edu	37	10	81928927	81928927	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:81928927T>C	ENST00000438331.1	-	6	841	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	ANXA11_ENST00000265447.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000372231.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000422982.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000360615.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000535999.1_Missense_Mutation_p.Y120C|ANXA11_ENST00000537102.1_Missense_Mutation_p.Y87C	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	120					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTATGGCGGATATGAGGGCAT	0.692																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(358-360)tAt>tGt		annexin A11							11.0	15.0	13.0					10																	81928927		2183	4273	6456	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81928927T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.359A>G	10.37:g.81928927T>C	ENSP00000398610:p.Tyr120Cys					ANXA11_ENST00000537102.1_Missense_Mutation_p.Y87C|ANXA11_ENST00000372231.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000535999.1_Missense_Mutation_p.Y120C|ANXA11_ENST00000360615.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000422982.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000265447.4_Missense_Mutation_p.Y120C	p.Y120C	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		6	841	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		120					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.359A>G	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.86|10.86	1.468449|1.468449	0.26335|0.26335	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000424188|ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	.|T;T;T;T;T;T;T	.|0.02345	.|4.33;4.33;4.33;4.33;4.33;4.33;4.36	5.35|5.35	2.94|2.94	0.34122|0.34122	.|.	.|0.629858	.|0.17136	.|N	.|0.185624	T|T	0.11922|0.11922	0.0290|0.0290	M|M	0.80183|0.80183	2.485|2.485	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.997	.|D;P;P	.|0.70716	.|0.97;0.85;0.85	T|T	0.08106|0.08106	-1.0738|-1.0738	6|10	0.35671|0.45353	T|T	0.21|0.12	.|.	6.557|6.557	0.22466|0.22466	0.0:0.0832:0.1564:0.7604|0.0:0.0832:0.1564:0.7604	.|.	.|220;120;120	.|B7Z6L0;Q5T0G8;P50995	.|.;.;ANX11_HUMAN	M|C	46|120;120;120;120;120;120;120;87;120;120	.|ENSP00000361305:Y120C;ENSP00000404412:Y120C;ENSP00000398610:Y120C;ENSP00000353827:Y120C;ENSP00000265447:Y120C;ENSP00000441748:Y120C;ENSP00000441400:Y87C	ENSP00000410826:I46M|ENSP00000265447:Y120C	I|Y	-|-	3|2	3|0	ANXA11|ANXA11	81918907|81918907	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.568000|0.568000	0.35870|0.35870	4.881000|4.881000	0.63114|0.63114	0.406000|0.406000	0.25560|0.25560	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.692	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		22	42	0	0	0	1	0	22	42				
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537																																						ENST00000295802.4																			1	Substitution - Missense(1)	p.S492F(1)	endometrium(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1474-1476)tCc>tTc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)	G	PHE/SER	0,4406		0,0,2203	98.0	106.0	104.0		1475	5.1	0.4	2	dbSNP_134	104	4,8596	3.0+/-9.4	0,4,4296	yes	missense	RETSAT	NM_017750.3	155	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	492/611	85571180	4,13002	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571180G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1475C>T	2.37:g.85571180G>A	ENSP00000295802:p.Ser492Phe					RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron	p.S492F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			9	1587	-			492					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1475C>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.928287|2.928287	0.52759|0.52759	0.0|0.0	4.65E-4|4.65E-4	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.23552	.|1.9;1.9	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.852245	.|0.10867	.|N	.|0.625371	T|T	0.36303|0.36303	0.0962|0.0962	M|M	0.65975|0.65975	2.015|2.015	0.35609|0.35609	D|D	0.808519|0.808519	.|P;P;P	.|0.48089	.|0.905;0.905;0.748	.|P;P;B	.|0.46585	.|0.521;0.521;0.243	T|T	0.45760|0.45760	-0.9239|-0.9239	5|10	.|0.56958	.|D	.|0.05	-8.7214|-8.7214	12.225|12.225	0.54455|0.54455	0.0:0.1718:0.8282:0.0|0.0:0.1718:0.8282:0.0	.|.	.|431;431;492	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|F	281|492;431	.|ENSP00000295802:S492F;ENSP00000405040:S431F	.|ENSP00000295802:S492F	P|S	-|-	1|2	0|0	RETSAT|RETSAT	85424691|85424691	0.967000|0.967000	0.33354|0.33354	0.392000|0.392000	0.26245|0.26245	0.722000|0.722000	0.41435|0.41435	3.004000|3.004000	0.49513|0.49513	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.537	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		9	414	0	0	0	1	0	9	414				
COQ6	51004	broad.mit.edu	37	14	74424980	74424980	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74424980G>T	ENST00000334571.2	+	5	652	c.612G>T	c.(610-612)ttG>ttT	p.L204F	COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000394026.4_Splice_Site_p.L179F|COQ6_ENST00000238709.4_Splice_Site_p.L129F	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	204					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCAAATTGTTGGTAGTTGAAG	0.418																																						ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.e5+1		coenzyme Q6 monooxygenase							85.0	77.0	80.0					14																	74424980		2203	4300	6503	SO:0001630	splice_region_variant	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74424980G>T	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.612+1G>T	14.37:g.74424980G>T						COQ6_ENST00000394026.4_Splice_Site_p.L179_splice|COQ6_ENST00000238709.4_Splice_Site_p.L129_splice|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron	p.L204_splice	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	5	652	+			204					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Splice_Site	SNP	ENST00000334571.2	37	c.612_splice	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111932	0.94339	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000557584;ENST00000557205;ENST00000554320	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.53	5.53	0.82687	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (1);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.997;0.992;0.999;0.996;0.996;0.995;0.991;0.996	T	0.77086	-0.2718	10	0.87932	D	0	-0.2753	19.6556	0.95837	0.0:0.0:1.0:0.0	.	149;204;149;179;204;129;129;129	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	F	179;129;129;129;204;204;149;149;129	ENSP00000377594:L179F;ENSP00000238709:L129F;ENSP00000333946:L204F;ENSP00000451123:L129F	ENSP00000238709:L129F	L	+	3	2	COQ6	73494733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.524000	0.73791	2.882000	0.98803	0.655000	0.94253	TTG		0.418	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1		Missense_Mutation	19	279	1	0	1.56452e-12	1	1.66287e-12	19	279				
TCERG1L	256536	broad.mit.edu	37	10	133106511	133106511	+	Silent	SNP	C	C	T	rs144369307	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:133106511C>T	ENST00000368642.4	-	3	718	c.633G>A	c.(631-633)ccG>ccA	p.P211P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	211										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGTGGGGAGCGGCCTGGAGG	0.493													C|||	21	0.00419329	0.0144	0.0014	5008	,	,		16103	0.001		0.0	False		,,,				2504	0.0					ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(631-633)ccG>ccA		transcription elongation regulator 1-like		C		65,4341	60.5+/-97.4	0,65,2138	51.0	49.0	50.0		633	-3.6	0.0	10	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	TCERG1L	NM_174937.3		0,65,6438	TT,TC,CC		0.0,1.4753,0.4998		211/587	133106511	65,12941	2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:133106511C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.633G>A	10.37:g.133106511C>T							p.P211P	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	3	718	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	211					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.633G>A	CCDS7662.2																																																																																				0.493	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		9	99	0	0	0	1	0	9	99				
IGF2BP3	10643	broad.mit.edu	37	7	23352422	23352422	+	Missense_Mutation	SNP	G	G	A	rs78711689		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:23352422G>A	ENST00000258729.3	-	14	1929	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	525	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.R525C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTCTGGTCACGAGGGACAACA	0.388																																						ENST00000258729.3																			1	Substitution - Missense(1)	p.R525C(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(1573-1575)Cgt>Tgt		insulin-like growth factor 2 mRNA binding protein 3							66.0	59.0	61.0					7																	23352422		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23352422G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1573C>T	7.37:g.23352422G>A	ENSP00000258729:p.Arg525Cys						p.R525C	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			14	1929	-			525			KH 4.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.1573C>T	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434953	0.83885	.	.	ENSG00000136231	ENST00000258729	T	0.64991	-0.13	5.55	5.55	0.83447	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84873	0.0826	10	0.87932	D	0	-10.2887	19.5118	0.95144	0.0:0.0:1.0:0.0	.	525	O00425	IF2B3_HUMAN	C	525	ENSP00000258729:R525C	ENSP00000258729:R525C	R	-	1	0	IGF2BP3	23318947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.343000	0.72986	2.612000	0.88384	0.655000	0.94253	CGT		0.388	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		5	210	0	0	0	1	0	5	210				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		17	846	0	0	0	1	0	17	846				
MYRIP	25924	broad.mit.edu	37	3	40208373	40208373	+	Missense_Mutation	SNP	G	G	A	rs185300013	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:40208373G>A	ENST00000302541.6	+	6	929	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	MYRIP_ENST00000396217.3_Missense_Mutation_p.R107Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R9Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	196	Myosin-binding.|PKA-binding. {ECO:0000250}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.R196L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGGCCCTACGGGTGGCTGAA	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		19202	0.002		0.0	False		,,,				2504	0.0					ENST00000302541.6																			1	Substitution - Missense(1)	p.R196L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(586-588)cGg>cAg		myosin VIIA and Rab interacting protein							82.0	79.0	80.0					3																	40208373		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40208373G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.587G>A	3.37:g.40208373G>A	ENSP00000301972:p.Arg196Gln					MYRIP_ENST00000444716.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R9Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R107Q	p.R196Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	6	929	+			196			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.587G>A	CCDS2689.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.08	3.296594	0.60086	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.53	3.65	0.41850	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.64402	D	0.000001	T	0.27559	0.0677	L	0.33485	1.01	0.39341	D	0.965581	D;P;P	0.57257	0.979;0.545;0.728	P;B;B	0.47891	0.56;0.027;0.082	T	0.03818	-1.1001	9	.	.	.	.	10.991	0.47549	0.0937:0.0:0.9063:0.0	.	107;196;196	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	196;196;196;107;9	ENSP00000398665:R196Q;ENSP00000301972:R196Q;ENSP00000389323:R196Q;ENSP00000379519:R107Q;ENSP00000438297:R9Q	.	R	+	2	0	MYRIP	40183377	1.000000	0.71417	0.092000	0.20876	0.979000	0.70002	6.257000	0.72480	1.231000	0.43661	0.555000	0.69702	CGG		0.517	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		52	247	0	0	0	1	0	52	247				
SEC62	7095	broad.mit.edu	37	3	169710773	169710773	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:169710773A>G	ENST00000337002.4	+	8	1180	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	SEC62_ENST00000480708.1_Silent_p.Q374Q	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	374					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGGAACAGCAAACAGATGGGG	0.403																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(1120-1122)caA>caG		SEC62 homolog (S. cerevisiae)							62.0	55.0	58.0					3																	169710773		2203	4300	6503	SO:0001819	synonymous_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169710773A>G	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1122A>G	3.37:g.169710773A>G						SEC62_ENST00000480708.1_Silent_p.Q374Q	p.Q374Q	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			8	1180	+			374					D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	c.1122A>G	CCDS3210.1																																																																																				0.403	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			9	140	0	0	0	1	0	9	140				
EXD1	161829	broad.mit.edu	37	15	41501725	41501725	+	Missense_Mutation	SNP	G	G	A	rs144824409		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:41501725G>A	ENST00000314992.5	-	5	524	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	EXD1_ENST00000458580.2_Missense_Mutation_p.R170C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	112	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTGCCATGGCGACATACATTC	0.383																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(334-336)Cgc>Tgc		exonuclease 3'-5' domain containing 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	61.0	63.0		334	4.8	1.0	15	dbSNP_134	63	0,8600		0,0,4300	no	missense	EXD1	NM_152596.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	112/515	41501725	1,13005	2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41501725G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.334C>T	15.37:g.41501725G>A	ENSP00000321029:p.Arg112Cys					EXD1_ENST00000458580.2_Missense_Mutation_p.R170C	p.R112C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			5	524	-			112			3'-5' exonuclease.		A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.334C>T	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622044	0.66787	2.27E-4	0.0	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.62639	0.01;0.01	4.77	4.77	0.60923	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.143577	0.46442	D	0.000287	T	0.78528	0.4297	M	0.78285	2.405	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.79621	-0.1727	10	0.51188	T	0.08	-12.7605	15.148	0.72674	0.0:0.0:1.0:0.0	.	170;112	B7Z839;Q8NHP7	.;EXD1_HUMAN	C	112;170	ENSP00000321029:R112C;ENSP00000415056:R170C	ENSP00000321029:R112C	R	-	1	0	EXD1	39289017	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.994000	0.56994	2.642000	0.89623	0.591000	0.81541	CGC		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		76	53	0	0	0	1	0	76	53				
DAO	1610	broad.mit.edu	37	12	109278890	109278890	+	Silent	SNP	G	G	A	rs200350184		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:109278890G>A	ENST00000228476.3	+	2	312	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DAO_ENST00000551281.1_Silent_p.A36A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	36					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AGGTCTACGCGGACCGCTTCA	0.622																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(106-108)gcG>gcA		D-amino-acid oxidase							113.0	100.0	104.0					12																	109278890		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109278890G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.108G>A	12.37:g.109278890G>A						DAO_ENST00000551281.1_Silent_p.A36A	p.A36A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			2	312	+			36					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.108G>A	CCDS9122.1																																																																																				0.622	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			95	286	0	0	0	1	0	95	286				
FAT4	79633	broad.mit.edu	37	4	126373660	126373660	+	Missense_Mutation	SNP	G	G	A	rs539061913		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:126373660G>A	ENST00000394329.3	+	9	11502	c.11489G>A	c.(11488-11490)cGt>cAt	p.R3830H	FAT4_ENST00000335110.5_Missense_Mutation_p.R2128H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3830	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAAAAAGCCGTGAGAGTCTT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20344	0.0		0.0	False		,,,				2504	0.001					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11488-11490)cGt>cAt		FAT atypical cadherin 4							93.0	93.0	93.0					4																	126373660		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373660G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11489G>A	4.37:g.126373660G>A	ENSP00000377862:p.Arg3830His					FAT4_ENST00000335110.5_Missense_Mutation_p.R2128H	p.R3830H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11502	+			3830			EGF-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11489G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	3.375	-0.127518	0.06753	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74737	-0.73;-0.87	5.47	-1.22	0.09494	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.472375	0.14764	N	0.299838	T	0.41282	0.1152	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23119	-1.0197	10	0.15952	T	0.53	.	3.3415	0.07120	0.366:0.0:0.2377:0.3964	.	2128;3830;3830	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3830;2128	ENSP00000377862:R3830H;ENSP00000335169:R2128H	ENSP00000335169:R2128H	R	+	2	0	FAT4	126593110	0.841000	0.29509	0.003000	0.11579	0.499000	0.33736	2.450000	0.44943	-0.198000	0.10333	0.561000	0.74099	CGT		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		48	249	0	0	0	1	0	48	249				
ZBTB7A	51341	broad.mit.edu	37	19	4048140	4048140	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4048140G>C	ENST00000322357.4	-	3	1643	c.1365C>G	c.(1363-1365)aaC>aaG	p.N455K	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.N455K	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	455					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCATGTGGTTCTTCAGGT	0.627																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1363-1365)aaC>aaG		zinc finger and BTB domain containing 7A							77.0	73.0	74.0					19																	4048140		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4048140G>C	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1365C>G	19.37:g.4048140G>C	ENSP00000323670:p.Asn455Lys					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.N455K	p.N455K	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1643	-		Hepatocellular(1079;0.137)	455					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1365C>G	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500479	0.64298	.	.	ENSG00000178951	ENST00000322357	T	0.07567	3.18	3.84	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.06645	0.0170	N	0.10618	0.0049999999999999	0.40411	D	0.979749	P	0.47484	0.896	P	0.51415	0.669	T	0.45775	-0.9238	10	0.33141	T	0.24	.	8.3603	0.32355	0.1207:0.0:0.8793:0.0	.	455	O95365	ZBT7A_HUMAN	K	455	ENSP00000323670:N455K	ENSP00000323670:N455K	N	-	3	2	ZBTB7A	3999140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.486000	0.60286	1.700000	0.51204	0.542000	0.68232	AAC		0.627	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		85	203	0	0	0	1	0	85	203				
SVEP1	79987	broad.mit.edu	37	9	113166766	113166766	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:113166766C>G	ENST00000401783.2	-	39	9843	c.9507G>C	c.(9505-9507)tgG>tgC	p.W3169C	SVEP1_ENST00000374469.1_Missense_Mutation_p.W3146C|SVEP1_ENST00000297826.5_Missense_Mutation_p.W1095C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3169	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCAGGGAACCAGCGACCAT	0.418																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9505-9507)tgG>tgC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							269.0	261.0	264.0					9																	113166766		1894	4112	6006	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166766C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9507G>C	9.37:g.113166766C>G	ENSP00000384917:p.Trp3169Cys					SVEP1_ENST00000297826.5_Missense_Mutation_p.W1095C|SVEP1_ENST00000374469.1_Missense_Mutation_p.W3146C	p.W3169C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9843	-			3169			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9507G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215916	0.39201	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;T	0.97731	-4.51;-4.51;-1.31	5.76	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98727	1.0711	10	0.87932	D	0	.	16.0816	0.81007	0.1352:0.8648:0.0:0.0	.	3169	Q4LDE5	SVEP1_HUMAN	C	3169;3146;1095	ENSP00000384917:W3169C;ENSP00000363593:W3146C;ENSP00000297826:W1095C	ENSP00000297826:W1095C	W	-	3	0	SVEP1	112206587	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	6.521000	0.73778	1.414000	0.47017	-0.293000	0.09583	TGG		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				411	791	0	0	0	1	0	411	791				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			12	217	0	0	0	1	0	12	217				
KBTBD12	166348	broad.mit.edu	37	3	127642283	127642283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:127642283C>A	ENST00000405109.1	+	2	846	c.379C>A	c.(379-381)Cac>Aac	p.H127N	KBTBD12_ENST00000343941.4_5'UTR|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.H127N			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	127										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGATGGACCACATGGATGC	0.363																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(379-381)Cac>Aac		kelch repeat and BTB (POZ) domain containing 12							53.0	51.0	52.0					3																	127642283		1901	4118	6019	SO:0001583	missense	166348							g.chr3:127642283C>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.379C>A	3.37:g.127642283C>A	ENSP00000385957:p.His127Asn					KBTBD12_ENST00000343941.4_5'UTR|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.H127N	p.H127N			Q3ZCT8	KBTBC_HUMAN			2	846	+			127					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.379C>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595808	0.28445	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.73258	-0.73;-0.73	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ fold (2);	.	.	.	.	T	0.56499	0.1989	N	0.05619	-0.005	0.41082	D	0.985534	B	0.14438	0.01	B	0.15870	0.014	T	0.53294	-0.8459	9	0.56958	D	0.05	.	19.9569	0.97222	0.0:1.0:0.0:0.0	.	127	Q3ZCT8	KBTBC_HUMAN	N	127	ENSP00000385957:H127N;ENSP00000385879:H127N	ENSP00000385957:H127N	H	+	1	0	KBTBD12	129124973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.717000	0.61923	2.729000	0.93468	0.460000	0.39030	CAC		0.363	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		31	115	1	0	1.88708e-17	1	2.01723e-17	31	115				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		8	275	0	0	0	1	0	8	275				
FAM184A	79632	broad.mit.edu	37	6	119295669	119295669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:119295669C>T	ENST00000338891.7	-	14	3282	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	947						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATATTTTTCTCTCTGAGGTGG	0.333																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2839-2841)Gag>Aag		family with sequence similarity 184, member A							265.0	253.0	257.0					6																	119295669		1812	4077	5889	SO:0001583	missense	79632							g.chr6:119295669C>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2839G>A	6.37:g.119295669C>T	ENSP00000342604:p.Glu947Lys					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron	p.E947K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			14	3282	-			947					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2839G>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615205	0.87359	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.52983	1.98;0.64	5.4	4.5	0.54988	.	0.105843	0.64402	D	0.000005	T	0.61148	0.2324	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68127	-0.5491	10	0.62326	D	0.03	-10.8537	16.0659	0.80870	0.0:0.8655:0.1345:0.0	.	947	Q8NB25	F184A_HUMAN	K	110;947;8	ENSP00000342604:E947K;ENSP00000357457:E8K	ENSP00000342604:E947K	E	-	1	0	FAM184A	119337368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.503000	0.66962	1.349000	0.45751	0.585000	0.79938	GAG		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		214	557	0	0	0	1	0	214	557				
LPHN1	22859	broad.mit.edu	37	19	14274079	14274079	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:14274079G>A	ENST00000340736.6	-	6	846	c.549C>T	c.(547-549)cgC>cgT	p.R183R	LPHN1_ENST00000361434.3_Silent_p.R178R|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	183	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTCCGTGCGGTAGGGGA	0.652																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(547-549)cgC>cgT		latrophilin 1							90.0	67.0	75.0					19																	14274079		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14274079G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.549C>T	19.37:g.14274079G>A						LPHN1_ENST00000361434.3_Silent_p.R178R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR	p.R183R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	846	-			183			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.549C>T	CCDS32928.1																																																																																				0.652	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	204	0	0	0	1	0	8	204				
ARHGAP20	57569	broad.mit.edu	37	11	110494918	110494918	+	Silent	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:110494918G>C	ENST00000260283.4	-	5	755	c.471C>G	c.(469-471)ggC>ggG	p.G157G	ARHGAP20_ENST00000528829.1_Silent_p.G121G|ARHGAP20_ENST00000357139.3_Silent_p.G131G|ARHGAP20_ENST00000533353.1_Silent_p.G131G|ARHGAP20_ENST00000527598.1_Silent_p.G121G|ARHGAP20_ENST00000524756.1_Silent_p.G134G	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	157	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGTGGGCCAGCCCAAAACAA	0.393																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(469-471)ggC>ggG		Rho GTPase activating protein 20							96.0	87.0	90.0					11																	110494918		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110494918G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.471C>G	11.37:g.110494918G>C						ARHGAP20_ENST00000527598.1_Silent_p.G121G|ARHGAP20_ENST00000524756.1_Silent_p.G134G|ARHGAP20_ENST00000533353.1_Silent_p.G131G|ARHGAP20_ENST00000357139.3_Silent_p.G131G|ARHGAP20_ENST00000528829.1_Silent_p.G121G	p.G157G	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	5	755	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	157			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.471C>G	CCDS31673.1																																																																																				0.393	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		69	64	0	0	0	1	0	69	64				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		13	676	0	0	0	1	0	13	676				
MYO3B	140469	broad.mit.edu	37	2	171242714	171242714	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:171242714G>A	ENST00000408978.4	+	13	1449	c.1306G>A	c.(1306-1308)Gga>Aga	p.G436R	MYO3B_ENST00000409044.3_Missense_Mutation_p.G436R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.G445R	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	436	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTCATCAGCGGAGAGAGTGG	0.448																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1333-1335)Gga>Aga		myosin IIIB							119.0	114.0	116.0					2																	171242714		1945	4147	6092	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171242714G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1306G>A	2.37:g.171242714G>A	ENSP00000386213:p.Gly436Arg					MYO3B_ENST00000409044.3_Missense_Mutation_p.G436R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G436R	p.G445R			Q8WXR4	MYO3B_HUMAN			13	1333	+			436			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1333G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845552	0.91197	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0	5.45	5.45	0.79879	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98936	1.0789	10	0.87932	D	0	.	19.6555	0.95837	0.0:0.0:1.0:0.0	.	436;436;436	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	R	436;436;435;445;445	ENSP00000386497:G436R;ENSP00000386213:G436R;ENSP00000446237:G445R;ENSP00000335100:G445R	ENSP00000314213:G435R	G	+	1	0	MYO3B	170950960	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	9.813000	0.99286	2.725000	0.93324	0.655000	0.94253	GGA		0.448	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			87	95	0	0	0	1	0	87	95				
CXorf66	347487	broad.mit.edu	37	X	139038807	139038807	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:139038807T>A	ENST00000370540.1	-	3	357	c.334A>T	c.(334-336)Atg>Ttg	p.M112L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	112	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTAGATAGCATGGGTTGTGTT	0.433																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(334-336)Atg>Ttg		chromosome X open reading frame 66							206.0	172.0	184.0					X																	139038807		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038807T>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.334A>T	X.37:g.139038807T>A	ENSP00000359571:p.Met112Leu						p.M112L	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	357	-			112			Ser-rich.			Missense_Mutation	SNP	ENST00000370540.1	37	c.334A>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	T	2.949	-0.217101	0.06101	.	.	ENSG00000203933	ENST00000370540	T	0.39229	1.09	3.74	-7.44	0.01379	.	1.308190	0.05445	N	0.548286	T	0.16896	0.0406	N	0.11201	0.11	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.13150	-1.0520	9	.	.	.	-1.6954	2.8867	0.05663	0.2427:0.0995:0.4843:0.1735	.	112	Q5JRM2	CX066_HUMAN	L	112	ENSP00000359571:M112L	.	M	-	1	0	CXorf66	138866473	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.177000	0.01261	-1.624000	0.01556	-0.491000	0.04670	ATG		0.433	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		410	167	0	0	0	1	0	410	167				
HCK	3055	broad.mit.edu	37	20	30681703	30681703	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30681703A>G	ENST00000520553.1	+	11	1313	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	HCK_ENST00000534862.1_Missense_Mutation_p.Y357C|HCK_ENST00000518730.1_Missense_Mutation_p.Y355C|HCK_ENST00000538448.1_Missense_Mutation_p.Y356C|HCK_ENST00000375862.2_Missense_Mutation_p.Y376C|HCK_ENST00000375852.2_Missense_Mutation_p.Y377C	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CAGAGGAACTACATCCACCGA	0.567																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1069-1071)tAc>tGc		hemopoietic cell kinase							175.0	119.0	138.0					20																	30681703		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681703A>G	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1067A>G	20.37:g.30681703A>G	ENSP00000429848:p.Tyr356Cys					HCK_ENST00000538448.1_Missense_Mutation_p.Y356C|HCK_ENST00000520553.1_Missense_Mutation_p.Y356C|HCK_ENST00000518730.1_Missense_Mutation_p.Y355C|HCK_ENST00000375852.2_Missense_Mutation_p.Y377C|HCK_ENST00000375862.2_Missense_Mutation_p.Y376C	p.Y357C	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		12	1433	+			377			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1070A>G	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908455	0.72868	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	4.87	3.71	0.42584	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.10551	0.0258	N	0.01493	-0.835	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.48246	-0.9052	10	0.87932	D	0	.	11.1423	0.48411	0.8463:0.1537:0.0:0.0	.	355;377	P08631-3;P08631	.;HCK_HUMAN	C	357;356;376;356;355;377	ENSP00000444986:Y357C;ENSP00000441169:Y356C;ENSP00000365022:Y376C;ENSP00000429848:Y356C;ENSP00000427757:Y355C;ENSP00000365012:Y377C	ENSP00000365012:Y377C	Y	+	2	0	HCK	30145364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.198000	0.77823	2.047000	0.60756	0.443000	0.29094	TAC		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			42	234	0	0	0	1	0	42	234				
FEM1A	55527	broad.mit.edu	37	19	4793717	4793717	+	Silent	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4793717C>A	ENST00000269856.3	+	1	1990	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	617					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.A617A(4)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGAAGACGGCCTACGAGCTGC	0.607																																						ENST00000269856.3																			4	Substitution - coding silent(4)	p.A617A(4)	central_nervous_system(2)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1849-1851)gcC>gcA		fem-1 homolog a (C. elegans)																																				SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793717C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1851C>A	19.37:g.4793717C>A						AC005523.2_ENST00000601192.1_RNA	p.A617A	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1990	+		Hepatocellular(1079;0.137)	617					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1851C>A	CCDS12135.1																																																																																				0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			8	168	1	0	1	1	1	8	168				
PCDHA9	9752	broad.mit.edu	37	5	140230505	140230505	+	Intron	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230505A>G	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I809V|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			atttatttatataattttttt	0.358																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2425-2427)Ata>Gta									28.0	31.0	30.0					5																	140230505		1967	4141	6108	SO:0001627	intron_variant	0							g.chr5:140230505A>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+31A>G	5.37:g.140230505A>G						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.I809V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3149	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2425A>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	0.114	-1.134083	0.01742	.	.	ENSG00000204961	ENST00000378122	T	0.49432	0.78	2.77	-5.54	0.02544	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	8	0.17369	T	0.5	.	4.631	0.12502	0.2713:0.0:0.4333:0.2954	.	809	Q9Y5H5-2	.	V	809	ENSP00000367362:I809V	ENSP00000367362:I809V	I	+	1	0	PCDHA9	140210689	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.028000	0.03589	-1.835000	0.01191	0.358000	0.22013	ATA		0.358	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		13	316	0	0	0	1	0	13	316				
KATNB1	10300	broad.mit.edu	37	16	57787404	57787404	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:57787404G>A	ENST00000379661.3	+	12	1542	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1									p.E384K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGACTACAACGAGATCTTCCA	0.667																																						ENST00000379661.3																			1	Substitution - Missense(1)	p.E384K(1)	upper_aerodigestive_tract(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1150-1152)Gag>Aag		katanin p80 (WD repeat containing) subunit B 1							56.0	62.0	60.0					16																	57787404		2197	4300	6497	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57787404G>A	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1150G>A	16.37:g.57787404G>A	ENSP00000368982:p.Glu384Lys						p.E384K	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			12	1542	+		all_neural(199;0.223)	384			Interaction with PAFAH1B1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1150G>A	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450247	0.96205	.	.	ENSG00000140854	ENST00000379661	T	0.55052	0.54	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.52309	0.695	T	0.63773	-0.6561	10	0.49607	T	0.09	0.0245	17.9519	0.89056	0.0:0.0:1.0:0.0	.	384	Q9BVA0	KTNB1_HUMAN	K	384	ENSP00000368982:E384K	ENSP00000368982:E384K	E	+	1	0	KATNB1	56344905	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.062000	0.89475	2.477000	0.83638	0.591000	0.81541	GAG		0.667	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			63	196	0	0	0	1	0	63	196				
HIATL1	84641	broad.mit.edu	37	9	97207438	97207438	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:97207438T>A	ENST00000375344.3	+	6	972	c.703T>A	c.(703-705)Tct>Act	p.S235T	HIATL1_ENST00000428393.2_Missense_Mutation_p.S170T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCTCAGATTTCTTGGAAACA	0.423																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(703-705)Tct>Act		hippocampus abundant transcript-like 1							34.0	34.0	34.0					9																	97207438		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97207438T>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.703T>A	9.37:g.97207438T>A	ENSP00000364493:p.Ser235Thr					HIATL1_ENST00000428393.2_Missense_Mutation_p.S170T	p.S235T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			6	972	+		Acute lymphoblastic leukemia(62;0.136)	235					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.703T>A	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409444	0.83340	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.48836	1.32;0.8	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.48767	D	0.000162	T	0.68586	0.3017	M	0.89840	3.065	0.80722	D	1	P;D	0.54207	0.549;0.965	B;P	0.61722	0.38;0.893	T	0.71185	-0.4667	10	0.30078	T	0.28	-9.607	11.9547	0.52974	0.0:0.0:0.0:1.0	.	170;235	B4DUE6;Q5SR56	.;HIAL1_HUMAN	T	235;170	ENSP00000364493:S235T;ENSP00000405909:S170T	ENSP00000364493:S235T	S	+	1	0	HIATL1	96247259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.827000	0.69300	1.996000	0.58369	0.533000	0.62120	TCT		0.423	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		62	105	0	0	0	1	0	62	105				
RBM15	64783	broad.mit.edu	37	1	110883874	110883874	+	Missense_Mutation	SNP	G	G	T	rs531496071		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:110883874G>T	ENST00000369784.3	+	1	2747	c.1847G>T	c.(1846-1848)cGc>cTc	p.R616L	RBM15_ENST00000487146.2_Missense_Mutation_p.R616L|RBM15_ENST00000602849.1_Missense_Mutation_p.R616L|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	616	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCCTAGATCGCAGGCGGGAT	0.612			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1846-1848)cGc>cTc		RNA binding motif protein 15							43.0	42.0	43.0					1																	110883874		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883874G>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1847G>T	1.37:g.110883874G>T	ENSP00000358799:p.Arg616Leu					RBM15_ENST00000602849.1_Missense_Mutation_p.R616L|RBM15_ENST00000487146.2_Missense_Mutation_p.R616L	p.R616L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2747	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	616			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.1847G>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574568	0.86542	.	.	ENSG00000162775	ENST00000369784	T	0.22945	1.93	4.77	4.77	0.60923	.	0.159339	0.29775	N	0.011221	T	0.42743	0.1216	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	T	0.32481	-0.9905	10	0.52906	T	0.07	-1.5084	17.9541	0.89063	0.0:0.0:1.0:0.0	.	616;616	Q96T37-3;Q96T37	.;RBM15_HUMAN	L	616	ENSP00000358799:R616L	ENSP00000358799:R616L	R	+	2	0	RBM15	110685397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.480000	0.83734	0.655000	0.94253	CGC		0.612	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		36	109	1	0	4.62619e-21	1	5.12185e-21	36	109				
SERPINB7	8710	broad.mit.edu	37	18	61460480	61460480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61460480T>G	ENST00000398019.2	+	4	630	c.305T>G	c.(304-306)cTt>cGt	p.L102R	SERPINB7_ENST00000540675.1_Missense_Mutation_p.L85R|SERPINB7_ENST00000336429.2_Missense_Mutation_p.L102R|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L102R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	102					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTGAATGGGCTTTTTGCTGAA	0.368																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(304-306)cTt>cGt		serpin peptidase inhibitor, clade B (ovalbumin), member 7							122.0	110.0	114.0					18																	61460480		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61460480T>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.305T>G	18.37:g.61460480T>G	ENSP00000381101:p.Leu102Arg					SERPINB7_ENST00000336429.2_Missense_Mutation_p.L102R|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L102R|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L85R	p.L102R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			4	630	+		Esophageal squamous(42;0.129)	102					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.305T>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431273	0.43122	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;T;T;T;D;T;D	0.87103	-2.21;2.27;2.27;2.27;-2.17;2.27;-2.21	5.9	5.9	0.94986	Serpin domain (3);	0.453562	0.18720	N	0.133053	D	0.95335	0.8486	H	0.95884	3.735	0.33759	D	0.621571	D;D	0.69078	0.992;0.997	D;D	0.67382	0.919;0.951	D	0.99862	1.1084	10	0.87932	D	0	.	13.7015	0.62611	0.0:0.0:0.0:1.0	.	85;102	F5GZC0;O75635	.;SPB7_HUMAN	R	102;102;102;85;102;102;102	ENSP00000397301:L102R;ENSP00000337212:L102R;ENSP00000381101:L102R;ENSP00000444572:L85R;ENSP00000402362:L102R;ENSP00000444861:L102R;ENSP00000393947:L102R	ENSP00000337212:L102R	L	+	2	0	SERPINB7	59611460	0.997000	0.39634	0.995000	0.50966	0.033000	0.12548	4.128000	0.57951	2.257000	0.74773	0.533000	0.62120	CTT		0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		115	198	0	0	0	1	0	115	198				
HOXC12	3228	broad.mit.edu	37	12	54348806	54348806	+	Silent	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(91-93)gcG>gcT		homeobox C12							31.0	38.0	35.0					12																	54348806		2203	4300	6503	SO:0001819	synonymous_variant	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348806G>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.93G>T	12.37:g.54348806G>T							p.A31A	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			1	189	+			31					Q9BXJ6	Silent	SNP	ENST00000243103.3	37	c.93G>T	CCDS8866.1																																																																																				0.652	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		7	139	1	0	0.00198382	1	0.00200538	7	139				
TRMT13	54482	broad.mit.edu	37	1	100613486	100613486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:100613486C>T	ENST00000370141.2	+	10	860	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	285					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ACCTATGCTGCCAGTTTTGAG	0.348																																						ENST00000370141.2																			0											c.(853-855)gCc>gTc		tRNA methyltransferase 13 homolog (S. cerevisiae)							60.0	62.0	61.0					1																	100613486		2202	4300	6502	SO:0001583	missense	54482							g.chr1:100613486C>T	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.854C>T	1.37:g.100613486C>T	ENSP00000359160:p.Ala285Val						p.A285V	NM_019083.2	NP_061956.2					10	860	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.854C>T	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735636	0.30774	.	.	ENSG00000122435	ENST00000370141	T	0.45668	0.89	5.86	4.95	0.65309	Methyltransferase TRM13 (1);	0.464369	0.23933	N	0.043134	T	0.20981	0.0505	L	0.50333	1.59	0.80722	D	1	B	0.15719	0.014	B	0.19391	0.025	T	0.06373	-1.0830	10	0.30078	T	0.28	-2.171	10.5704	0.45196	0.133:0.7985:0.0:0.0685	.	285	Q9NUP7	TRM13_HUMAN	V	285	ENSP00000359160:A285V	ENSP00000359160:A285V	A	+	2	0	CCDC76	100386074	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	1.789000	0.38724	1.494000	0.48533	-0.136000	0.14681	GCC		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		38	186	0	0	0	1	0	38	186				
ITPR2	3709	broad.mit.edu	37	12	26580903	26580903	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:26580903G>A	ENST00000381340.3	-	49	7304	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2296					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATATTGATCTGAGCATTATTG	0.383																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6886-6888)ctC>ctT		inositol 1,4,5-trisphosphate receptor, type 2							98.0	89.0	92.0					12																	26580903		1832	4095	5927	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26580903G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6888C>T	12.37:g.26580903G>A							p.L2296L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			49	7304	-	Colorectal(261;0.0847)		2296					O94773	Silent	SNP	ENST00000381340.3	37	c.6888C>T	CCDS41764.1																																																																																				0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		42	365	0	0	0	1	0	42	365				
PCDHA9	9752	broad.mit.edu	37	5	140230517	140230517	+	Intron	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230517C>G	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L813V|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aattttttttCTTGAAAGATA	0.353																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2437-2439)Ctt>Gtt									38.0	43.0	41.0					5																	140230517		1994	4159	6153	SO:0001627	intron_variant	0							g.chr5:140230517C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+43C>G	5.37:g.140230517C>G						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.L813V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3161	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2437C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147184	0.21288	.	.	ENSG00000204961	ENST00000378122	T	0.54479	0.57	3.49	-2.69	0.06022	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.09310	N	1	B	0.27732	0.187	B	0.25140	0.058	T	0.23797	-1.0178	8	0.11182	T	0.66	.	4.4522	0.11626	0.155:0.1892:0.0:0.6558	.	813	Q9Y5H5-2	.	V	813	ENSP00000367362:L813V	ENSP00000367362:L813V	L	+	1	0	PCDHA9	140210701	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-2.945000	0.00681	-0.158000	0.11040	0.436000	0.28706	CTT		0.353	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		12	363	0	0	0	1	0	12	363				
PLD3	23646	broad.mit.edu	37	19	40883778	40883778	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:40883778G>A	ENST00000409587.1	+	12	1668	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	PLD3_ENST00000409735.4_Missense_Mutation_p.R424H|PLD3_ENST00000409419.1_Missense_Mutation_p.R424H|PLD3_ENST00000409281.1_Missense_Mutation_p.R424H|PLD3_ENST00000356508.5_Missense_Mutation_p.R424H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	424	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTGACTGAACGCGCCACCTAC	0.612																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1270-1272)cGc>cAc		phospholipase D family, member 3							74.0	58.0	64.0					19																	40883778		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40883778G>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1271G>A	19.37:g.40883778G>A	ENSP00000387050:p.Arg424His					PLD3_ENST00000409281.1_Missense_Mutation_p.R424H|PLD3_ENST00000356508.5_Missense_Mutation_p.R424H|PLD3_ENST00000409735.4_Missense_Mutation_p.R424H|PLD3_ENST00000409419.1_Missense_Mutation_p.R424H	p.R424H			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		12	1668	+			424			PLD phosphodiesterase 2.		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.1271G>A	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637902	0.67130	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.32	4.28	0.50868	Phospholipase D/Transphosphatidylase (2);	0.107847	0.64402	D	0.000013	T	0.55800	0.1943	M	0.69358	2.11	0.43824	D	0.996399	D	0.71674	0.998	P	0.58210	0.835	T	0.60326	-0.7285	10	0.66056	D	0.02	-16.2681	12.271	0.54706	0.0833:0.0:0.9167:0.0	.	424	Q8IV08	PLD3_HUMAN	H	424	ENSP00000386293:R424H;ENSP00000387050:R424H;ENSP00000348901:R424H;ENSP00000386938:R424H;ENSP00000387022:R424H	ENSP00000348901:R424H	R	+	2	0	PLD3	45575618	0.863000	0.29885	0.789000	0.31954	0.659000	0.38960	2.456000	0.44997	1.364000	0.46038	0.655000	0.94253	CGC		0.612	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		32	157	0	0	0	1	0	32	157				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		10	191	0	0	0	1	0	10	191				
DSC2	1824	broad.mit.edu	37	18	28648987	28648987	+	Missense_Mutation	SNP	G	G	A	rs1617629		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:28648987G>A	ENST00000280904.6	-	15	2824	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	DSC2_ENST00000251081.6_Missense_Mutation_p.S794L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	794					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAGGATTCCGAGGTCTGGTG	0.592																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2380-2382)tCg>tTg		desmocollin 2		G	LEU/SER,LEU/SER	0,4406		0,0,2203	84.0	75.0	78.0		2381,2381	4.3	0.9	18	dbSNP_89	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSC2	NM_004949.3,NM_024422.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	794/848,794/902	28648987	1,13005	2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28648987G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2381C>T	18.37:g.28648987G>A	ENSP00000280904:p.Ser794Leu					DSC2_ENST00000251081.6_Missense_Mutation_p.S794L	p.S794L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		15	2824	-			794						Missense_Mutation	SNP	ENST00000280904.6	37	c.2381C>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124104	0.01770	0.0	1.16E-4	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.76709	0.54;-1.04	5.46	4.3	0.51218	Cadherin, cytoplasmic domain (1);	0.398358	0.14773	N	0.299252	T	0.32585	0.0834	N	0.00034	-2.555	0.21147	N	0.99977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35847	-0.9772	10	0.02654	T	1	.	11.4427	0.50107	0.929:0.0:0.071:0.0	rs1617629	794;794	Q02487;Q02487-2	DSC2_HUMAN;.	L	794;794;560;807	ENSP00000251081:S794L;ENSP00000280904:S794L	ENSP00000251081:S794L	S	-	2	0	DSC2	26902985	0.981000	0.34729	0.933000	0.37362	0.013000	0.08279	4.341000	0.59335	1.022000	0.39626	-0.487000	0.04747	TCG		0.592	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		7	254	0	0	0	1	0	7	254				
IMP3	55272	broad.mit.edu	37	15	75932236	75932236	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75932236G>C	ENST00000314852.2	-	2	1217	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	IMP3_ENST00000403490.1_Missense_Mutation_p.R92G|IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	452	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						AGCGAACCGCGCGTGGGCACC	0.711																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(274-276)Cgc>Ggc		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							13.0	12.0	13.0					15																	75932236		2162	4239	6401	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932236G>C	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.274C>G	15.37:g.75932236G>C	ENSP00000326981:p.Arg92Gly					IMP3_ENST00000403490.1_Missense_Mutation_p.R92G	p.R92G			Q9NV31	IMP3_HUMAN			2	1217	-			92					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.274C>G	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067359	0.55539	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	.	.	.	6.17	5.21	0.72293	.	0.188337	0.47455	D	0.000222	T	0.43500	0.1250	N	0.25380	0.74	0.43830	D	0.996405	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	9	0.35671	T	0.21	-10.901	12.0554	0.53531	0.0:0.0:0.8285:0.1715	.	92	Q9NV31	IMP3_HUMAN	G	92	.	ENSP00000326981:R92G	R	-	1	0	IMP3	73719291	0.993000	0.37304	1.000000	0.80357	0.869000	0.49853	1.508000	0.35769	2.941000	0.99782	0.655000	0.94253	CGC		0.711	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		6	103	0	0	0	1	0	6	103				
DNAAF2	55172	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:50100984G>A	ENST00000298292.8	-	1	964	c.884C>T	c.(883-885)gCc>gTc	p.A295V	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295V	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(883-885)gCc>gTc		dynein, axonemal, assembly factor 2							20.0	23.0	22.0					14																	50100984		2123	4188	6311	SO:0001583	missense	0				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100984G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.884C>T	14.37:g.50100984G>A	ENSP00000298292:p.Ala295Val					DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295V	p.A295V	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			1	964	-			295					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.884C>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950931	0.53186	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16457	2.34;2.34	5.23	2.26	0.28386	.	.	.	.	.	T	0.23846	0.0577	L	0.55743	1.74	0.20764	N	0.999855	B;B	0.34103	0.275;0.437	B;P	0.44447	0.067;0.45	T	0.19484	-1.0304	9	0.39692	T	0.17	.	9.8477	0.41037	0.0745:0.2621:0.6634:0.0	.	295;295	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	V	295	ENSP00000298292:A295V;ENSP00000384862:A295V	ENSP00000298292:A295V	A	-	2	0	DNAAF2	49170734	0.998000	0.40836	0.670000	0.29842	0.810000	0.45777	4.552000	0.60747	0.184000	0.20083	0.449000	0.29647	GCC		0.652	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			37	122	0	0	0	1	0	37	122				
ASIC2	40	broad.mit.edu	37	17	32483324	32483324	+	Silent	SNP	C	C	T	rs137994407	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:32483324C>T	ENST00000359872.6	-	1	989	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	76					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCACTTCGTCCACCTTAGTGA	0.577																																						ENST00000359872.6																			0											c.(226-228)gtG>gtA		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						68.0	74.0	72.0					17																	32483324		2193	4290	6483	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483324C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.228G>A	17.37:g.32483324C>T							p.V76V	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	989	-			76					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.228G>A	CCDS42296.1																																																																																				0.577	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		16	204	0	0	0	1	0	16	204				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		9	315	0	0	0	1	0	9	315				
USP10	9100	broad.mit.edu	37	16	84797846	84797846	+	Silent	SNP	C	C	T	rs370164533		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:84797846C>T	ENST00000219473.7	+	10	1922	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	USP10_ENST00000570191.1_Silent_p.T607T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	603	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTCCAATCACCGGCATTTTTG	0.488																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1807-1809)acC>acT		ubiquitin specific peptidase 10		C		1,3707		0,1,1853	101.0	101.0	101.0		1809	-4.2	0.8	16		101	1,8181		0,1,4090	no	coding-synonymous	USP10	NM_005153.2		0,2,5943	TT,TC,CC		0.0122,0.027,0.0168		603/799	84797846	2,11888	1854	4091	5945	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84797846C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1809C>T	16.37:g.84797846C>T						USP10_ENST00000570191.1_Silent_p.T607T	p.T603T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			10	1922	+			603					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1809C>T	CCDS45537.1																																																																																				0.488	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			187	259	0	0	0	1	0	187	259				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		18	382	0	0	0	1	0	18	382				
HBE1	3046	broad.mit.edu	37	11	5290746	5290746	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:5290746C>T	ENST00000380237.1	-	4	597	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.A85T|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	85					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A85S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCAAAGGCGGGCTTGAGG	0.502																																						ENST00000380237.1																			1	Substitution - Missense(1)	p.A85S(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(253-255)Gcc>Acc		hemoglobin, epsilon 1							144.0	131.0	135.0					11																	5290746		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5290746C>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.253G>A	11.37:g.5290746C>T	ENSP00000369586:p.Ala85Thr					HBE1_ENST00000292896.2_Missense_Mutation_p.A85T|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.A85T			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	597	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	85					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.253G>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658425	0.00779	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.93076	-3.16;-3.16;-2.56	6.06	-9.41	0.00613	Globin-like (1);Globin, structural domain (1);	0.418121	0.22878	N	0.054541	T	0.73040	0.3536	N	0.01424	-0.875	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.65598	-0.6129	10	0.02654	T	1	-2.7134	15.0845	0.72142	0.0848:0.1209:0.0:0.7942	.	85	P02100	HBE_HUMAN	T	85	ENSP00000369586:A85T;ENSP00000292896:A85T;ENSP00000380104:A85T	ENSP00000292896:A85T	A	-	1	0	HBE1	5247322	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.074000	0.01375	-1.887000	0.01115	-1.795000	0.00624	GCC		0.502	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		180	290	0	0	0	1	0	180	290				
ZFYVE1	53349	broad.mit.edu	37	14	73459982	73459982	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:73459982G>A	ENST00000556143.1	-	4	1792	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H358Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H358Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	358					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCTTGTAGTGAATGGAACTA	0.537																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1072-1074)Cac>Tac		zinc finger, FYVE domain containing 1							82.0	83.0	83.0					14																	73459982		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73459982G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1072C>T	14.37:g.73459982G>A	ENSP00000450742:p.His358Tyr					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H358Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H358Y	p.H358Y	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	4	1792	-		all_lung(585;1.33e-09)	358					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1072C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655491	0.67586	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.63580	-0.05;-0.04;-0.04	5.47	5.47	0.80525	.	0.060616	0.64402	D	0.000001	T	0.49201	0.1543	N	0.14661	0.345	0.80722	D	1	P;B	0.40266	0.71;0.229	B;B	0.37480	0.251;0.04	T	0.57159	-0.7859	10	0.62326	D	0.03	-20.4042	19.3349	0.94312	0.0:0.0:1.0:0.0	.	358;358	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	358	ENSP00000452442:H358Y;ENSP00000326921:H358Y;ENSP00000450742:H358Y	ENSP00000326921:H358Y	H	-	1	0	ZFYVE1	72529735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.588000	0.87417	0.555000	0.69702	CAC		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		131	182	0	0	0	1	0	131	182				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	A	C	rs75392608	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:39262083A>C	ENST00000391415.1	+	1	500	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	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						tgccagcccaactgctgccgc	0.667																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(442-444)aAc>aCc		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39262083A>C	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.443A>C	17.37:g.39262083A>C	ENSP00000375234:p.Asn148Thr						p.N148T	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	500	+			148			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.443A>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.682784	0.00745	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00561	6.59	2.83	-1.44	0.08856	.	8.212230	0.00901	N	0.002346	T	0.00144	0.0004	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	10	0.07990	T	0.79	.	2.3835	0.04360	0.1689:0.3761:0.3337:0.1212	.	148	Q9BYQ8	KRA49_HUMAN	T	136;148;139	ENSP00000375234:N148T	ENSP00000334461:N139T	N	+	2	0	KRTAP4-9	36515609	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-4.052000	0.00305	-0.458000	0.07023	-1.815000	0.00603	AAC		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	92	0	0	0	1	0	5	92				
LRRK2	120892	broad.mit.edu	37	12	40704299	40704299	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:40704299C>T	ENST00000298910.7	+	31	4442	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAGAAGCAACGCAAAGCCTG	0.483																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4384-4386)Cgc>Tgc		leucine-rich repeat kinase 2							153.0	145.0	147.0					12																	40704299		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704299C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4384C>T	12.37:g.40704299C>T	ENSP00000298910:p.Arg1462Cys						p.R1462C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4442	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1462			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4384C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907198	0.72868	.	.	ENSG00000188906	ENST00000298910	T	0.80653	-1.4	5.63	4.73	0.59995	ROC GTPase (1);Small GTP-binding protein domain (1);	0.182649	0.49916	D	0.000136	T	0.75810	0.3900	L	0.49778	1.585	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	B;B	0.41440	0.282;0.357	T	0.79381	-0.1827	10	0.52906	T	0.07	.	14.9416	0.70997	0.0:0.9302:0.0:0.0698	.	1462;1462	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1462	ENSP00000298910:R1462C	ENSP00000298910:R1462C	R	+	1	0	LRRK2	38990566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.391000	0.52530	2.653000	0.90120	0.650000	0.86243	CGC		0.483	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		114	494	0	0	0	1	0	114	494				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	13	327	0	0	0	1	0	13	327				
TMEM108	66000	broad.mit.edu	37	3	133099106	133099106	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:133099106C>T	ENST00000321871.6	+	4	761	c.551C>T	c.(550-552)cCg>cTg	p.P184L	TMEM108_ENST00000393130.3_Missense_Mutation_p.P184L|TMEM108_ENST00000515826.1_Missense_Mutation_p.P184L|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	184	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGCCCTGTCCCGCCTGCACCT	0.647																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(550-552)cCg>cTg		transmembrane protein 108							25.0	27.0	26.0					3																	133099106		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133099106C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.551C>T	3.37:g.133099106C>T	ENSP00000324651:p.Pro184Leu					TMEM108_ENST00000321871.6_Missense_Mutation_p.P184L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.P184L	p.P184L			Q6UXF1	TM108_HUMAN			3	674	+			184			Pro-rich.		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.551C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461605	0.04508	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.39592	1.07;1.07;1.07	4.32	0.207	0.15214	.	0.512094	0.16010	N	0.233845	T	0.28101	0.0693	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.10450	0.005;0.003	T	0.16897	-1.0387	10	0.44086	T	0.13	1.7616	8.9893	0.36014	0.0:0.7646:0.0:0.2354	.	184;184	E9PB58;Q6UXF1	.;TM108_HUMAN	L	184	ENSP00000324651:P184L;ENSP00000376838:P184L;ENSP00000423338:P184L	ENSP00000324651:P184L	P	+	2	0	TMEM108	134581796	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.130000	0.10498	-0.212000	0.10109	0.561000	0.74099	CCG		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		64	101	0	0	0	1	0	64	101				
OTOP3	347741	broad.mit.edu	37	17	72943312	72943312	+	Silent	SNP	G	G	A	rs564764463		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72943312G>A	ENST00000328801.4	+	6	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	454						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGCCTACTCGCTGCTGCTCA	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		21161	0.0		0.001	False		,,,				2504	0.0					ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1360-1362)tcG>tcA		otopetrin 3							50.0	49.0	50.0					17																	72943312		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943312G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1362G>A	17.37:g.72943312G>A							p.S454S	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			6	1362	+	all_lung(278;0.151)|Lung NSC(278;0.185)		454						Silent	SNP	ENST00000328801.4	37	c.1362G>A	CCDS11709.1																																																																																				0.627	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		30	126	0	0	0	1	0	30	126				
RP11-423O2.5	0	broad.mit.edu	37	1	142803621	142803621	+	lincRNA	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:142803621T>C	ENST00000423385.1	-	0	1344																											TGGAAGAaactaatatctgtt	0.303																																						ENST00000423385.1																			0																																																			0							g.chr1:142803621T>C																													1.37:g.142803621T>C														0	1344	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.303	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	308	0	0	0	1	0	8	308				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		8	274	0	0	0	1	0	8	274				
DENND1A	57706	broad.mit.edu	37	9	126165765	126165765	+	Missense_Mutation	SNP	C	C	T	rs373921365	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:126165765C>T	ENST00000373624.2	-	20	1694	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	MIR601_ENST00000385256.1_RNA|DENND1A_ENST00000394219.3_Missense_Mutation_p.R466H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.R468H|DENND1A_ENST00000542603.1_Missense_Mutation_p.R240H|DENND1A_ENST00000373620.3_Missense_Mutation_p.R498H	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	498					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACGAGGTGGGCGCACCTAGAG	0.542													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18393	0.0		0.0	False		,,,				2504	0.0					ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1492-1494)cGc>cAc		DENN/MADD domain containing 1A							103.0	75.0	85.0					9																	126165765		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126165765C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1493G>A	9.37:g.126165765C>T	ENSP00000362727:p.Arg498His					DENND1A_ENST00000394219.3_Missense_Mutation_p.R466H|DENND1A_ENST00000542603.1_Missense_Mutation_p.R240H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.R498H|DENND1A_ENST00000394215.2_Missense_Mutation_p.R468H	p.R498H	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			20	1694	-			498					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1493G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678086	0.68042	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215	T;T;T;T;T	0.29917	3.06;1.55;2.98;3.14;2.98	5.21	4.31	0.51392	.	0.110159	0.64402	D	0.000005	T	0.56366	0.1980	M	0.80746	2.51	0.43564	D	0.995888	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.997	D;D;D;D;D;P	0.80764	0.967;0.969;0.994;0.938;0.95;0.828	T	0.59773	-0.7391	10	0.41790	T	0.15	-16.9235	14.4888	0.67637	0.0:0.8534:0.1466:0.0	.	466;456;468;498;498;318	Q8TEH3-6;Q8TEH3-7;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;DEN1A_HUMAN;.	H	498;240;466;498;468	ENSP00000362727:R498H;ENSP00000437457:R240H;ENSP00000377766:R466H;ENSP00000362722:R498H;ENSP00000377763:R468H	ENSP00000362722:R498H	R	-	2	0	DENND1A	125205586	1.000000	0.71417	0.983000	0.44433	0.551000	0.35334	5.317000	0.65822	1.312000	0.45043	0.561000	0.74099	CGC		0.542	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		18	109	0	0	0	1	0	18	109				
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:101052308G>T	ENST00000360863.6	-	13	2140	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	RGS22_ENST00000523437.1_Missense_Mutation_p.T637N|RGS22_ENST00000523287.1_Missense_Mutation_p.T468N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	649					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1945-1947)aCc>aAc		regulator of G-protein signaling 22							74.0	68.0	70.0					8																	101052308		1839	4084	5923	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101052308G>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1946C>A	8.37:g.101052308G>T	ENSP00000354109:p.Thr649Asn					RGS22_ENST00000523437.1_Missense_Mutation_p.T637N|RGS22_ENST00000523287.1_Missense_Mutation_p.T468N	p.T649N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		13	2140	-			649					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1946C>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	2.540	-0.306504	0.05458	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.31510	1.49;1.49;1.49	5.61	1.58	0.23477	.	0.554792	0.17317	N	0.178675	T	0.19087	0.0458	N	0.19112	0.55	0.19775	N	0.999958	P;P;P	0.46395	0.877;0.877;0.634	B;B;B	0.41860	0.368;0.368;0.165	T	0.08186	-1.0734	10	0.59425	D	0.04	.	8.1409	0.31082	0.1984:0.5019:0.2997:0.0	.	637;649;468	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	649;637;468;637	ENSP00000354109:T649N;ENSP00000429382:T468N;ENSP00000428212:T637N	ENSP00000354109:T649N	T	-	2	0	RGS22	101121484	0.076000	0.21285	0.087000	0.20705	0.094000	0.18550	0.265000	0.18515	0.286000	0.22352	-0.282000	0.10007	ACC		0.348	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		127	128	1	0	3.41043e-57	1	3.86793e-57	127	128				
KRT6A	3853	broad.mit.edu	37	12	52884454	52884454	+	Missense_Mutation	SNP	G	G	A	rs373927281		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:52884454G>A	ENST00000330722.6	-	5	1044	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	326	Linker 12.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGCGGTTGTTGTCC	0.537																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(976-978)Cgc>Tgc		keratin 6A		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	164.0	149.0	154.0		976	5.5	1.0	12		154	0,8600		0,0,4300	no	missense	KRT6A	NM_005554.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	326/565	52884454	1,13005	2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884454G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.976C>T	12.37:g.52884454G>A	ENSP00000369317:p.Arg326Cys						p.R326C	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1044	-			326			Linker 12.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.976C>T	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.682436	0.88542	2.27E-4	0.0	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.76060	-0.99	5.47	5.47	0.80525	Filament (1);	0.000000	0.64402	D	0.000014	D	0.87613	0.6221	M	0.91920	3.255	0.80722	D	1	D	0.61080	0.989	P	0.61533	0.89	D	0.89808	0.3980	10	0.72032	D	0.01	.	15.3911	0.74744	0.0:0.0:0.8601:0.1399	.	326	P02538	K2C6A_HUMAN	C	326;282	ENSP00000369317:R326C	ENSP00000369317:R326C	R	-	1	0	KRT6A	51170721	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.418000	0.59828	2.764000	0.94973	0.556000	0.70494	CGC		0.537	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		124	603	0	0	0	1	0	124	603				
ZNF707	286075	broad.mit.edu	37	8	144776010	144776010	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:144776010C>T	ENST00000532205.1	+	8	1325	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZNF707_ENST00000532158.1_Silent_p.D142D|ZNF707_ENST00000358656.4_Silent_p.D142D|ZNF707_ENST00000418203.2_Silent_p.D142D|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Silent_p.D142D			Q96C28	ZN707_HUMAN	zinc finger protein 707	142					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	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGGACAGACGCCAAGCCCA	0.647																																						ENST00000532205.1																			0				breast(1)	1						c.(424-426)gaC>gaT		zinc finger protein 707							39.0	45.0	43.0					8																	144776010		2025	4167	6192	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776010C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.426C>T	8.37:g.144776010C>T						ZNF707_ENST00000532158.1_Silent_p.D142D|ZNF707_ENST00000358656.4_Silent_p.D142D|ZNF707_ENST00000454097.1_Silent_p.D142D|ZNF707_ENST00000418203.2_Silent_p.D142D	p.D142D			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1325	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		142					A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.426C>T	CCDS47932.1																																																																																				0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		42	147	0	0	0	1	0	42	147				
SPAG17	200162	broad.mit.edu	37	1	118539013	118539013	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:118539013T>C	ENST00000336338.5	-	34	5098	c.5033A>G	c.(5032-5034)gAg>gGg	p.E1678G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1678						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCACTGGCTCTTGGAGAAC	0.428																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5032-5034)gAg>gGg		sperm associated antigen 17							108.0	100.0	103.0					1																	118539013		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539013T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5033A>G	1.37:g.118539013T>C	ENSP00000337804:p.Glu1678Gly						p.E1678G	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	34	5098	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1678					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5033A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039868	0.55003	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.33438	1.41	5.09	5.09	0.68999	.	0.157176	0.56097	D	0.000034	T	0.43500	0.1250	M	0.68952	2.095	0.38533	D	0.949035	D	0.76494	0.999	D	0.69479	0.964	T	0.48103	-0.9064	10	0.72032	D	0.01	.	13.9935	0.64380	0.0:0.0:0.0:1.0	.	1678	Q6Q759	SPG17_HUMAN	G	1678;158	ENSP00000337804:E1678G	ENSP00000337804:E1678G	E	-	2	0	SPAG17	118340536	1.000000	0.71417	0.762000	0.31397	0.233000	0.25261	4.711000	0.61881	2.126000	0.65437	0.528000	0.53228	GAG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		152	297	0	0	0	1	0	152	297				
TLR2	7097	broad.mit.edu	37	4	154624846	154624846	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:154624846G>A	ENST00000260010.6	+	1	2195	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	263					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GAAAATCACCGATGAAAGTTT	0.318																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(787-789)Gat>Aat		toll-like receptor 2							35.0	37.0	36.0					4																	154624846		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624846G>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.787G>A	4.37:g.154624846G>A	ENSP00000260010:p.Asp263Asn						p.D263N	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2195	+	all_hematologic(180;0.093)	Renal(120;0.117)	263					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.787G>A	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636960	0.67130	.	.	ENSG00000137462	ENST00000260010	T	0.52754	0.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	M	0.78344	2.41	0.40634	D	0.981889	D	0.76494	0.999	D	0.65010	0.931	T	0.67995	-0.5526	10	0.54805	T	0.06	.	10.7223	0.46046	0.0698:0.0:0.7969:0.1332	.	263	O60603	TLR2_HUMAN	N	263	ENSP00000260010:D263N	ENSP00000260010:D263N	D	+	1	0	TLR2	154844296	1.000000	0.71417	0.131000	0.22000	0.558000	0.35554	6.364000	0.73086	2.802000	0.96397	0.655000	0.94253	GAT		0.318	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			16	241	0	0	0	1	0	16	241				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		14	404	0	0	0	1	0	14	404				
PGAP3	93210	broad.mit.edu	37	17	37842226	37842226	+	Silent	SNP	G	G	A	rs200486300		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:37842226G>A	ENST00000300658.4	-	2	320	c.228C>T	c.(226-228)acC>acT	p.T76T	ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000378011.4_Silent_p.T76T|ERBB2_ENST00000584601.1_5'Flank|PGAP3_ENST00000579146.1_Silent_p.T76T|PGAP3_ENST00000429199.2_Silent_p.T76T	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						AGAGCCCAACGGTGACCCACA	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.0					ENST00000300658.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(226-228)acC>acT		post-GPI attachment to proteins 3							161.0	105.0	124.0					17																	37842226		2203	4300	6503	SO:0001819	synonymous_variant	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842226G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.228C>T	17.37:g.37842226G>A						PGAP3_ENST00000429199.2_Silent_p.T76T|PGAP3_ENST00000378011.4_Silent_p.T76T|PGAP3_ENST00000579146.1_Silent_p.T76T	p.T76T	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN			2	320	-			76					B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	c.228C>T	CCDS32641.1																																																																																				0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		26	101	0	0	0	1	0	26	101				
POM121L9P	29774	broad.mit.edu	37	22	24656959	24656959	+	RNA	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:24656959G>A	ENST00000414583.2	+	0	2032					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCTCAGGGAGGGAGTGACCTC	0.627																																						ENST00000414583.2																			0																																																			0							g.chr22:24656959G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656959G>A								NR_003714.1						0	2032	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.627	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	19	0	0	0	1	0	4	19				
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		237	266	0	0	0	1	0	237	266				
OR8B8	26493	broad.mit.edu	37	11	124310146	124310146	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:124310146G>T	ENST00000328064.2	-	1	908	c.836C>A	c.(835-837)aCc>aAc	p.T279N		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	279					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACCACAGTGGTATAGAATAG	0.413																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(835-837)aCc>aAc		olfactory receptor, family 8, subfamily B, member 8							97.0	88.0	91.0					11																	124310146		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310146G>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.836C>A	11.37:g.124310146G>T	ENSP00000330280:p.Thr279Asn						p.T279N	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	908	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	279					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.836C>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993271	0.35131	.	.	ENSG00000197125	ENST00000328064	T	0.00267	8.38	3.81	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.139278	0.32593	N	0.005882	T	0.00580	0.0019	M	0.90705	3.14	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.23868	-1.0176	10	0.72032	D	0.01	.	10.0677	0.42315	0.171:0.0:0.829:0.0	.	279	Q15620	OR8B8_HUMAN	N	279	ENSP00000330280:T279N	ENSP00000330280:T279N	T	-	2	0	OR8B8	123815356	0.004000	0.15560	0.581000	0.28614	0.718000	0.41266	1.495000	0.35627	0.588000	0.29660	0.655000	0.94253	ACC		0.413	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		26	231	1	0	4.43304e-23	1	4.96714e-23	26	231				
TBC1D17	79735	broad.mit.edu	37	19	50390732	50390732	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:50390732G>T	ENST00000221543.5	+	14	1743		c.e14-1		MIR4750_ENST00000584564.1_RNA|TBC1D17_ENST00000535102.2_Splice_Site	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17						autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATCCCCCAGATTCCCAGGA	0.577																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e14-1		TBC1 domain family, member 17							68.0	64.0	65.0					19																	50390732		2203	4299	6502	SO:0001630	splice_region_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50390732G>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1445-1G>T	19.37:g.50390732G>T						TBC1D17_ENST00000535102.2_Splice_Site		NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	14	1743	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)						B4DT12|B9A6L8|F5H1W7	Splice_Site	SNP	ENST00000221543.5	37		CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986222	0.74589	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.694	0.77481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D17	55082544	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	7.154000	0.77437	2.567000	0.86603	0.511000	0.50034	.		0.577	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	Intron	40	72	1	0	1.57019e-19	1	1.71798e-19	40	72				
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597																																						ENST00000376350.3																			1	Substitution - Missense(1)	p.G527S(1)	kidney(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1579-1581)Ggt>Tgt		protein tyrosine phosphatase, receptor type, H							182.0	150.0	161.0					19																	55710122		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55710122C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1579G>T	19.37:g.55710122C>A	ENSP00000365528:p.Gly527Cys					PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C|PTPRH_ENST00000588559.1_5'UTR	p.G527C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	8	1601	-		Renal(1328;0.245)	527			Fibronectin type-III 6.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1579G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886213	0.33348	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.59638	0.25;0.25	2.49	2.49	0.30216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52240	0.1722	N	0.08118	0	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.99	D;P;D	0.66351	0.943;0.906;0.91	T	0.39860	-0.9593	9	0.59425	D	0.04	.	8.6181	0.33845	0.0:1.0:0.0:0.0	.	349;349;527	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	527;349	ENSP00000365528:G527C;ENSP00000263434:G349C	ENSP00000263434:G349C	G	-	1	0	PTPRH	60401934	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.593000	0.23999	1.714000	0.51371	0.561000	0.74099	GGT		0.597	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			35	212	1	0	1.04594e-18	1	1.13107e-18	35	212				
MYO15A	51168	broad.mit.edu	37	17	18025706	18025706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18025706C>T	ENST00000205890.5	+	2	3930	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1198					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCGGCCCGCCAAGCTGGCG	0.637																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3592-3594)Cca>Tca		myosin XVA							32.0	37.0	35.0					17																	18025706		1988	4147	6135	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025706C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3592C>T	17.37:g.18025706C>T	ENSP00000205890:p.Pro1198Ser						p.P1198S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3930	+	all_neural(463;0.228)		1198			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3592C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	7.775	0.708317	0.15239	.	.	ENSG00000091536	ENST00000205890	D	0.86694	-2.16	5.22	-3.82	0.04281	.	.	.	.	.	T	0.70491	0.3230	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.56390	-0.7987	9	0.10111	T	0.7	.	9.0973	0.36647	0.3032:0.5904:0.1064:0.0	.	1198	Q9UKN7	MYO15_HUMAN	S	1198	ENSP00000205890:P1198S	ENSP00000205890:P1198S	P	+	1	0	MYO15A	17966431	0.000000	0.05858	0.004000	0.12327	0.037000	0.13140	-0.472000	0.06623	-0.592000	0.05851	-1.344000	0.01245	CCA		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		38	164	0	0	0	1	0	38	164				
ATG10	83734	broad.mit.edu	37	5	81283497	81283497	+	Splice_Site	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:81283497G>C	ENST00000282185.3	+	2	402	c.108G>C	c.(106-108)aaG>aaC	p.K36N	ATG10_ENST00000355178.4_Splice_Site_p.K36N|ATG10_ENST00000458350.3_Splice_Site_p.K36N|ATG10_ENST00000513634.1_Splice_Site_p.K36N|ATG10_ENST00000513443.1_Splice_Site_p.K36N	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	36					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACCATCAAAGGTAAGAATGG	0.328																																						ENST00000282185.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.e2+1		autophagy related 10							102.0	111.0	108.0					5																	81283497		2203	4298	6501	SO:0001630	splice_region_variant	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81283497G>C	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.108+1G>C	5.37:g.81283497G>C						ATG10_ENST00000458350.3_Splice_Site_p.K36_splice|ATG10_ENST00000513443.1_Splice_Site_p.K36_splice|ATG10_ENST00000513634.1_Splice_Site_p.K36_splice|ATG10_ENST00000355178.4_Splice_Site_p.K36_splice	p.K36_splice	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	2	402	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	36					B2RE09|Q6PIX1|Q9H842	Splice_Site	SNP	ENST00000282185.3	37	c.108_splice	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692609	0.30052	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000510085;ENST00000513443;ENST00000513634	T;T;T;T;T	0.53206	0.63;1.79;1.79;0.63;0.79	5.71	5.71	0.89125	.	0.221960	0.44483	D	0.000445	T	0.65842	0.2730	M	0.66939	2.045	0.46586	D	0.999115	D;P;D	0.71674	0.985;0.906;0.998	P;B;D	0.66351	0.614;0.444;0.943	T	0.62421	-0.6858	10	0.40728	T	0.16	-20.5549	17.1386	0.86747	0.0:0.0:1.0:0.0	.	36;36;36	D6RDX3;Q9H0Y0;Q9H0Y0-2	.;ATG10_HUMAN;.	N	36	ENSP00000347309:K36N;ENSP00000282185:K36N;ENSP00000404938:K36N;ENSP00000425182:K36N;ENSP00000425225:K36N	ENSP00000282185:K36N	K	+	3	2	ATG10	81319253	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.532000	0.67154	2.861000	0.98227	0.650000	0.86243	AAG		0.328	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028	Missense_Mutation	81	274	0	0	0	1	0	81	274				
ZNF302	55900	broad.mit.edu	37	19	35176007	35176007	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:35176007C>T	ENST00000446502.2	+	6	1405	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.H355H|ZNF302_ENST00000457781.2_Silent_p.H355H|ZNF302_ENST00000505242.1_Silent_p.H355H			Q9NR11	ZN302_HUMAN	zinc finger protein 302	434					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTAGCTCACACCTTACTCAAC	0.373																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(1063-1065)caC>caT		zinc finger protein 302							37.0	38.0	37.0					19																	35176007		2198	4296	6494	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35176007C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1197C>T	19.37:g.35176007C>T						ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Silent_p.H399H|ZNF302_ENST00000423823.2_Silent_p.H355H|ZNF302_ENST00000457781.2_Silent_p.H355H	p.H355H			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1559	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		434					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.1065C>T																																																																																					0.373	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			40	193	0	0	0	1	0	40	193				
PEG3	5178	broad.mit.edu	37	19	57327021	57327021	+	Missense_Mutation	SNP	C	C	T	rs200205197	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:57327021C>T	ENST00000326441.9	-	10	3152	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	PEG3_ENST00000423103.2_Missense_Mutation_p.R930H|PEG3_ENST00000593695.1_Missense_Mutation_p.R804H|PEG3_ENST00000598410.1_Missense_Mutation_p.R806H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	930					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGGTATTCACGGACATTTGA	0.448													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20853	0.001		0.0	False		,,,				2504	0.0					ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2788-2790)cGt>cAt		paternally expressed 3							124.0	122.0	123.0					19																	57327021		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327021C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2789G>A	19.37:g.57327021C>T	ENSP00000326581:p.Arg930His					ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R806H|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R930H|PEG3_ENST00000593695.1_Missense_Mutation_p.R804H|ZIM2_ENST00000391708.3_Intron	p.R930H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3152	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	930					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2789G>A	CCDS12948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.938484	0.52972	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	3.99	2.94	0.34122	.	0.300365	0.24549	N	0.037576	T	0.08935	0.0221	M	0.68593	2.085	.	.	.	P;D;D	0.89917	0.707;1.0;1.0	B;D;D	0.71414	0.103;0.97;0.973	T	0.15350	-1.0440	9	0.27082	T	0.32	-13.9383	5.6294	0.17501	0.0:0.6903:0.2033:0.1064	.	806;930;865	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	930	ENSP00000326581:R930H;ENSP00000403051:R930H	ENSP00000326581:R930H	R	-	2	0	ZIM2	62018833	0.000000	0.05858	0.631000	0.29282	0.969000	0.65631	-1.005000	0.03674	1.254000	0.44035	0.655000	0.94253	CGT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			206	447	0	0	0	1	0	206	447				
BCAT1	586	broad.mit.edu	37	12	25002795	25002795	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:25002795T>G	ENST00000261192.7	-	6	1125	c.599A>C	c.(598-600)aAt>aCt	p.N200T	BCAT1_ENST00000342945.5_Missense_Mutation_p.N139T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.N212T|BCAT1_ENST00000538118.1_Missense_Mutation_p.N199T|BCAT1_ENST00000539780.1_Missense_Mutation_p.N163T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	200					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	GGACACTGGATTAAAGGTTCC	0.483																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(598-600)aAt>aCt		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						137.0	130.0	132.0					12																	25002795		1839	4080	5919	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25002795T>G		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.599A>C	12.37:g.25002795T>G	ENSP00000261192:p.Asn200Thr					BCAT1_ENST00000342945.5_Missense_Mutation_p.N139T|BCAT1_ENST00000538118.1_Missense_Mutation_p.N199T|BCAT1_ENST00000539780.1_Missense_Mutation_p.N163T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.N212T	p.N200T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			6	1125	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		200					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.599A>C	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286442	0.23478	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.33	4.16	0.48862	.	0.427611	0.27231	N	0.020307	T	0.11665	0.0284	L	0.35341	1.055	0.29410	N	0.861281	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.003;0.002	T	0.13308	-1.0514	10	0.37606	T	0.19	-9.1574	5.1552	0.15031	0.0:0.1531:0.163:0.6838	.	163;212;139;200;199	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	T	200;199;139;212;163	ENSP00000261192:N200T;ENSP00000440817:N199T;ENSP00000339805:N139T;ENSP00000443459:N212T;ENSP00000440827:N163T	ENSP00000261192:N200T	N	-	2	0	BCAT1	24894062	0.982000	0.34865	0.600000	0.28864	0.925000	0.55904	1.851000	0.39338	0.841000	0.35020	0.533000	0.62120	AAT		0.483	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		86	1672	0	0	0	1	0	86	1672				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		11	330	0	0	0	1	0	11	330				
CD300LD	100131439	broad.mit.edu	37	17	72584875	72584875	+	Missense_Mutation	SNP	G	G	A	rs564832234		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72584875G>A	ENST00000375352.1	-	2	234	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C17orf77_ENST00000328023.2_5'Flank|C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	52	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCTTGACACCGCCACTTCAAG	0.473													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.0					ENST00000375352.1																			0				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						c.(154-156)Cgg>Tgg		CD300 molecule-like family member d							170.0	144.0	152.0					17																	72584875		1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72584875G>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.154C>T	17.37:g.72584875G>A	ENSP00000364501:p.Arg52Trp					C17orf77_ENST00000392620.1_Intron	p.R52W	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN			2	234	-			52			Ig-like V-type.			Missense_Mutation	SNP	ENST00000375352.1	37	c.154C>T	CCDS42379.1	.	.	.	.	.	.	.	.	.	.	A	0.059	-1.229064	0.01518	.	.	ENSG00000204345	ENST00000375352	T	0.65364	-0.15	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41938	N	0.000798	T	0.10121	0.0248	N	0.00001	-3.75	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45131	-0.9282	10	0.02654	T	1	.	8.8021	0.34916	0.9078:0.0:0.0922:0.0	.	52	Q6UXZ3	CLM4_HUMAN	W	52	ENSP00000364501:R52W	ENSP00000364501:R52W	R	-	1	2	CD300LD	70096470	1.000000	0.71417	0.970000	0.41538	0.119000	0.20118	3.603000	0.54074	0.765000	0.33221	-0.361000	0.07541	CGG		0.473	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		135	444	0	0	0	1	0	135	444				
FRYL	285527	broad.mit.edu	37	4	48548200	48548200	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:48548200G>A	ENST00000503238.1	-	39	5162	c.5163C>T	c.(5161-5163)agC>agT	p.S1721S	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.S1721S|FRYL_ENST00000358350.4_Silent_p.S1721S|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATTTCCTAAGCTGATACTAG	0.448																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5161-5163)agC>agT		FRY-like							79.0	77.0	78.0					4																	48548200		1963	4147	6110	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48548200G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5163C>T	4.37:g.48548200G>A						FRYL_ENST00000503238.1_Silent_p.S1721S|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.S1721S	p.S1721S			O94915	FRYL_HUMAN			42	5767	-			1721					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.5163C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	5.181	0.218941	0.09810	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.32	4.48	0.54585	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60000	-0.7348	4	.	.	.	.	10.6427	0.45602	0.0703:0.0:0.7972:0.1325	.	.	.	.	F	591	.	.	L	-	1	0	FRYL	48242957	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	1.974000	0.40559	1.223000	0.43536	0.557000	0.71058	CTT		0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			71	122	0	0	0	1	0	71	122				
PGBD3	267004	broad.mit.edu	37	10	50725028	50725028	+	Nonsense_Mutation	SNP	C	C	A	rs375200016		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:50725028C>A	ENST00000374127.3	-	2	334	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E513*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E45*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.E513*|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E513*	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	45										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCACCTTCTTCATCTCCTGAT	0.428																																						ENST00000515869.1																			0											c.(1537-1539)Gaa>Taa									144.0	143.0	143.0					10																	50725028		2203	4300	6503	SO:0001587	stop_gained	0							g.chr10:50725028C>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.133G>T	10.37:g.50725028C>A	ENSP00000363242:p.Glu45*					PGBD3_ENST00000374127.3_Nonsense_Mutation_p.E45*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E45*|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E513*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E513*	p.E513*	NM_001277059.1	NP_001263988.1					6	1657	-								B3KQC4|Q5W0M0|Q6PIH0	Nonsense_Mutation	SNP	ENST00000374127.3	37	c.1537G>T	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	38	6.806216	0.97853	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	.	.	.	0.468	0.468	0.16732	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.2479	.	.	.	.	.	.	.	X	45;45;513;513	.	ENSP00000387966:E513X	E	-	1	0	PGBD3;RP11-123B3.6	50395034	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	1.663000	0.37429	0.488000	0.27723	0.491000	0.48974	GAA		0.428	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			56	650	1	0	1.38909e-20	1	1.52883e-20	56	650				
PPP1R9A	55607	broad.mit.edu	37	7	94879384	94879384	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:94879384C>A	ENST00000433881.1	+	9	2679	c.2147C>A	c.(2146-2148)aCc>aAc	p.T716N	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T716N|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T716N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T738N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T716N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	716	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGAAAAAACCCAACTCCAA	0.413										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2146-2148)aCc>aAc		protein phosphatase 1, regulatory subunit 9A							73.0	69.0	70.0					7																	94879384		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879384C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2147C>A	7.37:g.94879384C>A	ENSP00000398870:p.Thr716Asn	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T716N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T738N	p.T716N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	2363	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		716			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2147C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	6.029	0.373646	0.11409	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14144	2.53;2.55;2.55;2.55;2.56;2.55	5.04	-1.71	0.08133	.	0.554218	0.19398	N	0.115259	T	0.11750	0.0286	L	0.38531	1.155	0.31019	N	0.718376	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.10450	0.001;0.005;0.003;0.001;0.001	T	0.11060	-1.0603	10	0.30078	T	0.28	.	17.7997	0.88583	0.685:0.315:0.0:0.0	.	716;716;738;716;716	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	738;716;716;716;716;716	ENSP00000405514:T738N;ENSP00000344524:T716N;ENSP00000411342:T716N;ENSP00000398870:T716N;ENSP00000289495:T716N;ENSP00000402893:T716N	ENSP00000289495:T716N	T	+	2	0	PPP1R9A	94717320	0.019000	0.18553	0.813000	0.32504	0.097000	0.18754	-0.084000	0.11268	-0.333000	0.08476	0.655000	0.94253	ACC		0.413	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		37	120	1	0	9.04072e-19	1	9.83376e-19	37	120				
KCNH8	131096	broad.mit.edu	37	3	19575468	19575468	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:19575468C>T	ENST00000328405.2	+	16	3467	c.3201C>T	c.(3199-3201)aaC>aaT	p.N1067N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1067					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCTGGAAAACTTACCAGGAT	0.483																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3199-3201)aaC>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 8							60.0	58.0	59.0					3																	19575468		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19575468C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3201C>T	3.37:g.19575468C>T							p.N1067N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3467	+			1067					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.3201C>T	CCDS2632.1																																																																																				0.483	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		12	409	0	0	0	1	0	12	409				
FBXL13	222235	broad.mit.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A	rs368775610		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102518012G>A	ENST00000313221.4	-	16	1963	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FBXL13_ENST00000393772.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCACAATTTCGTAAACTCAAG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		16359	0.001		0.0	False		,,,				2504	0.0					ENST00000393772.2																			2	Substitution - Nonsense(2)	p.R513*(2)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(1537-1539)Cga>Tga		F-box and leucine-rich repeat protein 13		G	stop/ARG,stop/ARG	0,4406		0,0,2203	75.0	79.0	78.0		1537,1537	0.2	1.0	7		78	1,8579	1.2+/-3.3	0,1,4289	no	stop-gained,stop-gained	FBXL13	NM_001111038.1,NM_145032.3	,	0,1,6492	AA,AG,GG		0.0117,0.0,0.0077	,	513/691,513/736	102518012	1,12985	2203	4290	6493	SO:0001587	stop_gained	222235							g.chr7:102518012G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1537C>T	7.37:g.102518012G>A	ENSP00000321927:p.Arg513*					FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R513*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513*	p.R513*			Q8NEE6	FXL13_HUMAN			16	1963	-			513					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	c.1537C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	39	7.576611	0.98368	0.0	1.17E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	.	.	.	5.55	0.15	0.14883	.	0.151243	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.9248	0.35634	0.0687:0.0:0.4301:0.5013	.	.	.	.	X	513;513;234;513;513;513;513	.	ENSP00000321927:R513X	R	-	1	2	FBXL13	102305248	0.991000	0.36638	0.988000	0.46212	0.538000	0.34931	0.541000	0.23207	-0.177000	0.10690	-0.321000	0.08615	CGA		0.323	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		63	357	0	0	0	1	0	63	357				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	112	0	0	0	1	0	11	112				
TUBGCP6	85378	broad.mit.edu	37	22	50657234	50657234	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:50657234G>A	ENST00000248846.5	-	21	4823	c.4719C>T	c.(4717-4719)gaC>gaT	p.D1573D	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1573					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGCGGGGTGTCCCCATGCA	0.647																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4717-4719)gaC>gaT		tubulin, gamma complex associated protein 6							77.0	72.0	74.0					22																	50657234		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657234G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4719C>T	22.37:g.50657234G>A						TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR	p.D1573D			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	21	4823	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1573					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.4719C>T	CCDS14087.1																																																																																				0.647	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		81	176	0	0	0	1	0	81	176				
UGT1A4	54657	broad.mit.edu	37	2	234627926	234627926	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234627926G>T	ENST00000373409.3	+	1	503	c.460G>T	c.(460-462)Gtt>Ttt	p.V154F	UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	154					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AACAGACCCCGTTAACCTCTG	0.483																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(460-462)Gtt>Ttt									184.0	185.0	184.0					2																	234627926		2203	4300	6503	SO:0001583	missense	0							g.chr2:234627926G>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.460G>T	2.37:g.234627926G>T	ENSP00000362508:p.Val154Phe					UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.V154F	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	503	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.460G>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.920268	0.00498	.	.	ENSG00000244474	ENST00000373409	T	0.65549	-0.16	4.31	-5.58	0.02512	.	.	.	.	.	T	0.20981	0.0505	N	0.01219	-0.95	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20184	0.007;0.028	T	0.24693	-1.0153	9	0.07175	T	0.84	.	1.4635	0.02401	0.343:0.0862:0.3092:0.2616	.	154;154	B8K288;P22310	.;UD14_HUMAN	F	154	ENSP00000362508:V154F	ENSP00000362508:V154F	V	+	1	0	UGT1A4	234292665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.504000	0.00964	-1.124000	0.02936	-3.389000	0.00040	GTT		0.483	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		203	949	1	0	1.33315e-76	1	1.54016e-76	203	949				
SND1	27044	broad.mit.edu	37	7	127484381	127484381	+	Missense_Mutation	SNP	A	A	G	rs554481013		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:127484381A>G	ENST00000354725.3	+	12	1441	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	416	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCCAGGTCAATGTGACGGTG	0.507													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15243	0.0		0.0	False		,,,				2504	0.0					ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1246-1248)aAt>aGt		staphylococcal nuclease and tudor domain containing 1							141.0	112.0	122.0					7																	127484381		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127484381A>G		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1247A>G	7.37:g.127484381A>G	ENSP00000346762:p.Asn416Ser						p.N416S	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			12	1441	+			416			TNase-like 3.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1247A>G	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559291	0.45590	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.28069	1.63	5.78	4.64	0.57946	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.354502	0.34603	N	0.003824	T	0.22820	0.0551	L	0.40543	1.245	0.58432	D	0.999992	B	0.02656	0.0	B	0.12156	0.007	T	0.05500	-1.0881	10	0.13853	T	0.58	-13.0002	10.0047	0.41951	0.9202:0.0:0.0798:0.0	.	416	Q7KZF4	SND1_HUMAN	S	416;406	ENSP00000346762:N416S	ENSP00000346762:N416S	N	+	2	0	SND1	127271617	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.018000	0.49625	1.130000	0.42092	0.533000	0.62120	AAT		0.507	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		6	160	0	0	0	1	0	6	160				
DHX33	56919	broad.mit.edu	37	17	5365761	5365761	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:5365761G>A	ENST00000225296.3	-	3	756	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTATTTCCGAAGCAAAGAG	0.463																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(556-558)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 33							111.0	100.0	104.0					17																	5365761		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365761G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.556C>T	17.37:g.5365761G>A	ENSP00000225296:p.Arg186Trp					DHX33_ENST00000433302.3_Intron	p.R186W	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			3	756	-			186			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.556C>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357302	0.82243	.	.	ENSG00000005100	ENST00000225296	T	0.02737	4.18	5.87	4.89	0.63831	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116965	0.64402	D	0.000015	T	0.11067	0.0270	L	0.58428	1.81	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.00888	-1.1526	10	0.72032	D	0.01	.	15.3842	0.74684	0.0:0.0:0.8598:0.1402	.	186	Q9H6R0	DHX33_HUMAN	W	186	ENSP00000225296:R186W	ENSP00000225296:R186W	R	-	1	2	DHX33	5306485	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	4.683000	0.61679	1.443000	0.47586	0.650000	0.86243	CGG		0.463	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		63	248	0	0	0	1	0	63	248				
ADCY8	114	broad.mit.edu	37	8	131793086	131793086	+	Silent	SNP	G	G	A	rs145809062		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:131793086G>A	ENST00000286355.5	-	18	5398	c.3306C>T	c.(3304-3306)ggC>ggT	p.G1102G	ADCY8_ENST00000377928.3_Silent_p.G971G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1102					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G1102G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567										HNSCC(32;0.087)																												ENST00000286355.5																			1	Substitution - coding silent(1)	p.G1102G(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3304-3306)ggC>ggT		adenylate cyclase 8 (brain)		G		1,4405	2.1+/-5.4	0,1,2202	108.0	108.0	108.0		3306	4.2	1.0	8	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1102/1252	131793086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131793086G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3306C>T	8.37:g.131793086G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.G971G	p.G1102G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5398	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1102						Silent	SNP	ENST00000286355.5	37	c.3306C>T	CCDS6363.1																																																																																				0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			244	765	0	0	0	1	0	244	765				
TREX1	11277	broad.mit.edu	37	3	48508064	48508064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48508064C>T	ENST00000422277.2	+	1	836	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	TREX1_ENST00000444177.1_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000296443.9_Nonsense_Mutation_p.Q4*|TREX1_ENST00000456089.1_Intron|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Nonsense_Mutation_p.Q4*|TREX1_ENST00000492235.1_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	59					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATGGGCTCGCAGGCCCTGCC	0.637																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(10-12)Cag>Tag		three prime repair exonuclease 1							114.0	136.0	129.0					3																	48508064		2203	4300	6503	SO:0001587	stop_gained	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508064C>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.175C>T	3.37:g.48508064C>T	ENSP00000390478:p.Gln59*					TREX1_ENST00000492235.1_Intron|TREX1_ENST00000422277.2_Nonsense_Mutation_p.Q59*|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Nonsense_Mutation_p.Q4*|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Intron	p.Q4*			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	897	+			59					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Nonsense_Mutation	SNP	ENST00000422277.2	37	c.10C>T	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	c	43	10.489290	0.99414	.	.	ENSG00000213689	ENST00000296443;ENST00000436480;ENST00000422277	.	.	.	5.16	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.2322	0.43262	0.0:0.7365:0.2635:0.0	.	.	.	.	X	4;4;59	.	ENSP00000296443:Q4X	Q	+	1	0	TREX1	48483068	0.042000	0.20092	0.170000	0.22879	0.791000	0.44710	0.271000	0.18626	2.400000	0.81607	0.586000	0.80456	CAG		0.637	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		160	782	0	0	0	1	0	160	782				
GPR125	166647	broad.mit.edu	37	4	22456513	22456513	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:22456513C>T	ENST00000334304.5	-	4	718	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	GPR125_ENST00000502482.1_Missense_Mutation_p.R150Q|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	150					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGAGTCCTCGAAATATGTC	0.378																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(448-450)cGa>cAa		G protein-coupled receptor 125							131.0	119.0	123.0					4																	22456513		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22456513C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.449G>A	4.37:g.22456513C>T	ENSP00000334952:p.Arg150Gln					GPR125_ENST00000502482.1_Missense_Mutation_p.R150Q|GPR125_ENST00000282943.5_5'UTR	p.R150Q	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			4	718	-		Breast(46;0.198)	150					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.449G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837213	0.16891	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90069	-2.61;-2.61	6.06	6.06	0.98353	.	0.104924	0.64402	D	0.000008	T	0.76271	0.3964	N	0.17082	0.46	0.34165	D	0.669153	B;B;B	0.22746	0.012;0.039;0.074	B;B;B	0.18263	0.008;0.007;0.021	T	0.70368	-0.4891	10	0.02654	T	1	-19.8675	10.2103	0.43136	0.0:0.8198:0.0:0.1802	.	25;150;150	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	Q	150	ENSP00000334952:R150Q;ENSP00000421006:R150Q	ENSP00000334952:R150Q	R	-	2	0	GPR125	22065611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.921000	0.48852	2.880000	0.98712	0.650000	0.86243	CGA		0.378	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			124	216	0	0	0	1	0	124	216				
FCN1	2219	broad.mit.edu	37	9	137809657	137809657	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:137809657G>T	ENST00000371806.3	-	1	152	c.61C>A	c.(61-63)Cat>Aat	p.H21N		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	21					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTTGATATGCAGGAACAAG	0.572																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(61-63)Cat>Aat		ficolin (collagen/fibrinogen domain containing) 1							94.0	90.0	91.0					9																	137809657		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809657G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.61C>A	9.37:g.137809657G>T	ENSP00000360871:p.His21Asn						p.H21N	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	152	-		Myeloproliferative disorder(178;0.0333)	21					Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.61C>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727814	0.15507	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82255	-1.59	4.16	-1.48	0.08745	.	.	.	.	.	T	0.65249	0.2673	N	0.22421	0.69	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.48091	-0.9065	9	0.27785	T	0.31	.	2.3548	0.04293	0.3544:0.0:0.2632:0.3824	.	21	O00602	FCN1_HUMAN	N	21	ENSP00000360871:H21N	ENSP00000308877:H21N	H	-	1	0	FCN1	136949478	0.001000	0.12720	0.007000	0.13788	0.138000	0.21146	-0.636000	0.05465	-0.204000	0.10235	0.579000	0.79373	CAT		0.572	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		57	303	1	0	3.30226e-22	1	3.67797e-22	57	303				
FBXW10	10517	broad.mit.edu	37	17	18675802	18675802	+	Missense_Mutation	SNP	C	C	T	rs150329747	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18675802C>T	ENST00000395665.4	+	12	2305	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	FBXW10_ENST00000395667.1_Missense_Mutation_p.T695M|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Missense_Mutation_p.T642M|FBXW10_ENST00000308799.4_Missense_Mutation_p.T724M			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTggaaaaaacgaaacaaaag	0.413													N|||	6	0.00119808	0.0	0.0029	5008	,	,		21151	0.0		0.004	False		,,,				2504	0.0					ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2170-2172)aCg>aTg		F-box and WD repeat domain containing 10		C	MET/THR	7,4399	14.3+/-33.2	0,7,2196	147.0	150.0	149.0		2084	-5.5	0.0	17	dbSNP_134	149	85,8515	48.1+/-107.5	0,85,4215	yes	missense	FBXW10	NM_031456.3	81	0,92,6411	TT,TC,CC		0.9884,0.1589,0.7074	possibly-damaging	695/1052	18675802	92,12914	2203	4300	6503	SO:0001583	missense	10517							g.chr17:18675802C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2084C>T	17.37:g.18675802C>T	ENSP00000379025:p.Thr695Met					FBXW10_ENST00000395665.4_Missense_Mutation_p.T695M|FBXW10_ENST00000301938.4_Missense_Mutation_p.T642M|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Missense_Mutation_p.T695M	p.T724M			Q5XX13	FBW10_HUMAN			11	2390	+			695					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2171C>T	CCDS11199.3	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	8.725	0.915369	0.17907	0.001589	0.009884	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.60171	0.24;0.4;0.21;0.35	4.61	-5.49	0.02584	.	4.344430	0.01435	U	0.014875	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	P;P;P;P	0.44344	0.833;0.663;0.53;0.833	B;B;B;B	0.29942	0.109;0.109;0.035;0.109	T	0.32455	-0.9906	10	0.49607	T	0.09	.	2.4373	0.04485	0.1019:0.2949:0.1678:0.4353	.	642;724;695;695	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	M	695;724;642;695	ENSP00000379026:T695M;ENSP00000310382:T724M;ENSP00000306937:T642M;ENSP00000379025:T695M	ENSP00000306937:T642M	T	+	2	0	FBXW10	18616527	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-0.586000	0.05898	-1.274000	0.01402	ACG		0.413	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		59	665	0	0	0	1	0	59	665				
TOP2A	7153	broad.mit.edu	37	17	38555132	38555132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38555132C>T	ENST00000423485.1	-	26	3504	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1116					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTACGGAGTCACTCTTTTCA	0.353																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(3346-3348)Gac>Aac		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						163.0	146.0	152.0					17																	38555132		1852	4096	5948	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38555132C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3346G>A	17.37:g.38555132C>T	ENSP00000411532:p.Asp1116Asn						p.D1116N	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		26	3504	-		Breast(137;0.00328)	1116					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.3346G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075095	0.36566	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23552	1.9	6.05	4.05	0.47172	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.722808	0.15029	N	0.284597	T	0.22322	0.0538	L	0.46947	1.48	0.43330	D	0.995362	B	0.10296	0.003	B	0.10450	0.005	T	0.03060	-1.1077	10	0.16420	T	0.52	.	11.2796	0.49186	0.0:0.8505:0.0:0.1495	.	1116	P11388	TOP2A_HUMAN	N	1116;1196;1139;1152	ENSP00000411532:D1116N	ENSP00000269577:D1196N	D	-	1	0	TOP2A	35808658	0.477000	0.25909	0.176000	0.23000	0.513000	0.34164	2.083000	0.41615	0.881000	0.35993	-0.142000	0.14014	GAC		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			112	109	0	0	0	1	0	112	109				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	189	0	0	0	1	0	8	189				
NELFCD	51497	broad.mit.edu	37	20	57564956	57564956	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57564956C>T	ENST00000344018.3	+	7	755	c.728C>T	c.(727-729)gCc>gTc	p.A243V	NELFCD_ENST00000602795.1_Missense_Mutation_p.A252V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	243					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TTTGCCCAGGCCATGATGTCC	0.637																																						ENST00000602795.1																			0											c.(754-756)gCc>gTc		negative elongation factor complex member C/D							69.0	57.0	61.0					20																	57564956		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57564956C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.728C>T	20.37:g.57564956C>T	ENSP00000342300:p.Ala243Val					NELFCD_ENST00000344018.3_Missense_Mutation_p.A243V	p.A252V							7	803	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.755C>T		.	.	.	.	.	.	.	.	.	.	C	13.25	2.180243	0.38511	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.116232	0.64402	D	0.000015	T	0.21186	0.0510	N	0.01197	-0.965	0.44366	D	0.997269	P;B	0.35468	0.503;0.284	B;B	0.34093	0.175;0.124	T	0.29212	-1.0019	9	0.10377	T	0.69	-20.4793	18.0843	0.89453	0.0:1.0:0.0:0.0	.	252;243	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	243	.	ENSP00000342300:A243V	A	+	2	0	TH1L	56998351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.717000	0.92951	0.655000	0.94253	GCC		0.637	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		84	239	0	0	0	1	0	84	239				
MDM1	56890	broad.mit.edu	37	12	68707443	68707443	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:68707443A>C	ENST00000303145.7	-	10	1676	c.1590T>G	c.(1588-1590)gaT>gaG	p.D530E	MDM1_ENST00000540418.1_Missense_Mutation_p.D250E|MDM1_ENST00000411698.2_Missense_Mutation_p.D495E	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	530					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTAGTGAGATCATGATGAG	0.413																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(1588-1590)gaT>gaG		Mdm1 nuclear protein homolog (mouse)							112.0	111.0	111.0					12																	68707443		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68707443A>C	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1590T>G	12.37:g.68707443A>C	ENSP00000302537:p.Asp530Glu					MDM1_ENST00000411698.2_Missense_Mutation_p.D495E|MDM1_ENST00000540418.1_Missense_Mutation_p.D250E	p.D530E	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	10	1676	-			530					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.1590T>G	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742885	0.69418	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.27104	1.69;1.69;1.69	4.98	-1.7	0.08159	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.32666	-0.9898	9	.	.	.	-21.6311	11.011	0.47663	0.5487:0.0:0.4513:0.0	.	495;530	E7EPQ3;Q8TC05	.;MDM1_HUMAN	E	250;530;495	ENSP00000443815:D250E;ENSP00000302537:D530E;ENSP00000391006:D495E	.	D	-	3	2	MDM1	66993710	0.980000	0.34600	0.890000	0.34922	0.973000	0.67179	0.181000	0.16880	-0.489000	0.06716	0.397000	0.26171	GAT		0.413	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		428	199	0	0	0	1	0	428	199				
CRYBB1	1414	broad.mit.edu	37	22	27008041	27008041	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:27008041C>T	ENST00000215939.2	-	3	424	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	98	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CTCACGGTCCCGCGGAGACAA	0.582																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(292-294)gcG>gcA		crystallin, beta B1							84.0	77.0	79.0					22																	27008041		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:27008041C>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.294G>A	22.37:g.27008041C>T							p.A98A	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			3	424	-			98			Beta/gamma crystallin 'Greek key' 1.			Silent	SNP	ENST00000215939.2	37	c.294G>A	CCDS13840.1																																																																																				0.582	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		47	328	0	0	0	1	0	47	328				
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672													A|||	1334	0.266374	0.2897	0.2161	5008	,	,		12493	0.3879		0.0964	False		,,,				2504	0.32					ENST00000244769.4																			1	Deletion - In frame(1)	p.H209_H211delHQH(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(631-633)caT>caG		ataxin 1							4.0	7.0	6.0					6																	16327909		1575	3495	5070	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327909A>C	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.633T>G	6.37:g.16327909A>C	ENSP00000244769:p.His211Gln					ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1569	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	211	H -> HQ (in Ref. 1; CAA55793).		Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.633T>G	CCDS34342.1	369	0.16895604395604397	105	0.21341463414634146	59	0.16298342541436464	150	0.26223776223776224	55	0.07255936675461741	A	5.976	0.364085	0.11296	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50813	0.73;0.73	.	.	.	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.31223	-0.9951	4	0.15952	T	0.53	.	.	.	.	rs59310777	211	P54253	ATX1_HUMAN	Q	211	ENSP00000244769:H211Q;ENSP00000416360:H211Q	ENSP00000244769:H211Q	H	-	3	2	ATXN1	16435888	0.694000	0.27738	0.023000	0.16930	0.066000	0.16364	1.537000	0.36083	0.000000	0.14550	0.000000	0.15137	CAT		0.672	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	85	0	0	0	1	0	4	85				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		9	397	0	0	0	1	0	9	397				
BPTF	2186	broad.mit.edu	37	17	65941849	65941849	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:65941849G>A	ENST00000321892.4	+	23	7464	c.7403G>A	c.(7402-7404)cGt>cAt	p.R2468H	BPTF_ENST00000424123.3_Missense_Mutation_p.R2329H|BPTF_ENST00000306378.6_Missense_Mutation_p.R2342H|BPTF_ENST00000335221.5_Missense_Mutation_p.R2468H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2468					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTGTTCGTGTCCAAAGT	0.512																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7402-7404)cGt>cAt		bromodomain PHD finger transcription factor							207.0	174.0	186.0					17																	65941849		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941849G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7403G>A	17.37:g.65941849G>A	ENSP00000315454:p.Arg2468His					BPTF_ENST00000424123.3_Missense_Mutation_p.R2329H|BPTF_ENST00000306378.6_Missense_Mutation_p.R2342H|BPTF_ENST00000335221.5_Missense_Mutation_p.R2468H	p.R2468H			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7464	+	all_cancers(12;6e-11)		2468					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7403G>A		.	.	.	.	.	.	.	.	.	.	G	13.79	2.343417	0.41498	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.62788	0.0;-0.0;-0.0	5.95	5.95	0.96441	.	.	.	.	.	T	0.56202	0.1969	L	0.33485	1.01	0.18873	N	0.999982	P;D;D	0.58620	0.909;0.983;0.983	B;P;P	0.48454	0.288;0.578;0.578	T	0.55127	-0.8189	9	0.62326	D	0.03	-6.8245	7.451	0.27237	0.1075:0.2945:0.5981:0.0	.	146;2342;2468	B4DJV8;Q12830-2;Q12830-4	.;.;.	H	2342;2468;2468;139	ENSP00000307208:R2342H;ENSP00000334351:R2468H;ENSP00000315454:R2468H	ENSP00000307208:R2342H	R	+	2	0	BPTF	63372311	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.814000	0.48010	2.827000	0.97445	0.650000	0.86243	CGT		0.512	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		67	247	0	0	0	1	0	67	247				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		16	281	0	0	0	1	0	16	281				
PPP1R3C	5507	broad.mit.edu	37	10	93389816	93389816	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:93389816G>A	ENST00000238994.5	-	2	906	c.822C>T	c.(820-822)gaC>gaT	p.D274D		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGAATGCACAGTCCTGGGGTG	0.507																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(820-822)gaC>gaT		protein phosphatase 1, regulatory subunit 3C							103.0	97.0	99.0					10																	93389816		2203	4300	6503	SO:0001819	synonymous_variant	5507						protein serine/threonine phosphatase activity	g.chr10:93389816G>A	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.822C>T	10.37:g.93389816G>A							p.D274D	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	906	-		Colorectal(252;0.235)	274						Silent	SNP	ENST00000238994.5	37	c.822C>T	CCDS7416.1																																																																																				0.507	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		76	265	0	0	0	1	0	76	265				
LOC100287934	100287934	broad.mit.edu	37	1	741173	741176	+	5'Flank	DEL	ACTT	ACTT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:741173_741176delACTT	ENST00000599533.1	-	0	0				RP11-206L10.8_ENST00000447500.1_RNA																							GAAATAGAACACTTACTTTGACCA	0.373																																						ENST00000447500.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:741173_741176delACTT																													1.37:g.741177_741180delACTT	Exception_encountered													0	238	-									RNA	DEL	ENST00000599533.1	37																																																																																						0.373	AL669831.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				31	110						31	110	---	---	---	---
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	388						7	388	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	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		10	309						10	309	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		14	186						14	186	---	---	---	---
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		9	806						9	806	---	---	---	---
RERE	473	broad.mit.edu	37	1	8716108	8716109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:8716108_8716109insT	ENST00000337907.3	-	3	882_883	c.248_249insA	c.(247-249)aagfs	p.K83fs	RERE_ENST00000400908.2_Frame_Shift_Ins_p.K83fs|RERE_ENST00000400907.2_Frame_Shift_Ins_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATAACGAGACTTTTTTTTCGG	0.45																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(247-249)atcfs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716108_8716109insT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.249dupA	1.37:g.8716116_8716116dupT	ENSP00000338629:p.Lys83fs					RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs	p.I83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	882_883	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	83					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Ins	INS	ENST00000337907.3	37	c.248_249insA	CCDS95.1																																																																																				0.450	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			10	1543						10	1543	---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		10	3349						10	3349	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	290						7	290	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|MIER1_ENST00000401041.1_5'Flank|MIER1_ENST00000371018.3_5'Flank|MIER1_ENST00000355977.6_5'Flank|WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|MIER1_ENST00000357692.2_5'Flank|WDR78_ENST00000431318.1_5'UTR|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000371016.1_5'Flank|MIER1_ENST00000371012.2_5'Flank	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(88-90)agfs		WD repeat domain 78							98.0	98.0	98.0					1																	67390426		2203	4300	6503	SO:0001589	frameshift_variant	79819							g.chr1:67390426delT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.89delA	1.37:g.67390426delT	ENSP00000360065:p.Lys30fs					WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR	p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			1	144	-			30					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Del	DEL	ENST00000371026.3	37	c.89delA	CCDS635.1																																																																																				0.622	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		7	536						7	536	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			17	146						17	146	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	215						8	215	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116147_145116148insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA										O75396	SC22B_HUMAN			0	1233_1234	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		9	19						9	19	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		11	434						11	434	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171.0	155.0	160.0					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		8	895						8	895	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.K93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		7	541						7	541	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		13	434						13	434	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		34	192						34	192	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		12	390						12	390	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	591						9	591	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		8	1081						8	1081	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152320541	152320541	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:152320541delA	ENST00000243326.5	+	29	4990	c.4507delA	c.(4507-4509)aaafs	p.K1505fs	RIF1_ENST00000444746.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.K1505fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.K1505fs*18(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGAACAAAATAAAAAAAAGGC	0.408																																						ENST00000243326.4																			1	Deletion - Frameshift(1)	p.K1505fs*18(1)	lung(1)	NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4507-4509)aafs		RAP1 interacting factor homolog (yeast)							58.0	64.0	62.0					2																	152320541		2199	4294	6493	SO:0001589	frameshift_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320541delA	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4507delA	2.37:g.152320541delA	ENSP00000243326:p.Lys1505fs					RIF1_ENST00000453091.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.K1505fs	p.K1505fs			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4990	+			1505					A0AVS0|Q9NS16	Frame_Shift_Del	DEL	ENST00000243326.5	37	c.4507delA	CCDS2194.1																																																																																				0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	478						8	478	---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160604679	160604680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:160604679_160604680insT	ENST00000259050.4	+	5	1000_1001	c.878_879insT	c.(877-882)acttttfs	p.TF293fs	MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.TF293fs|MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.TF255fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.TF237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATGTCATCTACTTTTTTTTCAC	0.396																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(877-879)attfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160604679_160604680insT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.886dupT	2.37:g.160604687_160604687dupT	ENSP00000259050:p.Thr293fs					MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.I255fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.I237fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.I293fs	p.I293fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1000_1001	+			293			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Ins	INS	ENST00000259050.4	37	c.878_879insT	CCDS2210.1																																																																																				0.396	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		8	356						8	356	---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174097115	174097117	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:174097115_174097117delGCT	ENST00000375213.3	+	14	1209_1211	c.1131_1133delGCT	c.(1129-1134)cggctg>cgg	p.L381del	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.L381del|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		381	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGGGAAGCGGCTGCTGCTGCTG	0.433																																						ENST00000375213.3																			0											c.(1129-1134)cgg>cg																																						SO:0001651	inframe_deletion	0							g.chr2:174097115_174097117delGCT																												ENST00000375213.3:c.1131_1133delGCT	2.37:g.174097124_174097126delGCT	ENSP00000364361:p.Leu381del					MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000423106.2_RNA	p.RL377del	NM_016653.2	NP_057737.2					14	1209_1211	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	In_Frame_Del	DEL	ENST00000375213.3	37	c.1131_1133delGCT	CCDS42777.1																																																																																				0.433	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			7	1290						7	1290	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		11	431						11	431	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		11	2385						11	2385	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526711	234526711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234526711delT	ENST00000373450.4	+	1	421	c.358delT	c.(358-360)tttfs	p.F121fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	124					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTTAACTTATTTTTTTCGCA	0.373																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(358-360)ttfs									112.0	120.0	118.0					2																	234526711		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234526711delT	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.358delT	2.37:g.234526711delT	ENSP00000362549:p.Phe121fs						p.F121fs	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	421	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Frame_Shift_Del	DEL	ENST00000373450.4	37	c.358delT	CCDS33402.1																																																																																				0.373	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			7	1020						7	1020	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38162039	38162040	+	IGR	DEL	GA	GA	-	rs140494598		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:38162039_38162040delGA	ENST00000333167.8	-	0	1785				DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000308059.6_Frame_Shift_Del_p.G1602fs|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGTGCGAGTGGAGAGAGAGAGA	0.579																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4804-4806)gfs		deleted in lung and esophageal cancer 1																																				SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38162039_38162040delGA	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38162049_38162050delGA						DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs	p.G1602fs			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	34	4826_4827	+			1602					G5E935|Q96CA6	Frame_Shift_Del	DEL	ENST00000333167.8	37	c.4805_4806delGA	CCDS2673.1																																																																																				0.579	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		7	292						7	292	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		8	907						8	907	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			10	159						10	159	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			7	1294						7	1294	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069198	114069198	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:114069198delT	ENST00000474710.1	-	4	1905	c.1727delA	c.(1726-1728)aagfs	p.K576fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.K503fs|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	576						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCATAAGGCTTTTTTTCGCC	0.577																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1507-1509)agfs		zinc finger and BTB domain containing 20							144.0	144.0	144.0					3																	114069198		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069198delT	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1727delA	3.37:g.114069198delT	ENSP00000419153:p.Lys576fs					ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.K576fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs	p.K503fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2329	-			576					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1508delA	CCDS54626.1																																																																																				0.577	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		7	710						7	710	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		8	274						8	274	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	417						9	417	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		8	277						8	277	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aaafs	p.K123fs	FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333																																						ENST00000357559.4																			1	Deletion - Frameshift(1)	p.N124fs*14(1)	large_intestine(1)	breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(364-366)aafs		fragile X mental retardation, autosomal homolog 1							55.0	58.0	57.0					3																	180666228		2202	4298	6500	SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666228delA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.364delA	3.37:g.180666228delA	ENSP00000350170:p.Lys123fs					FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs	p.K123fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	748	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		123					A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	ENST00000357559.4	37	c.364delA	CCDS3238.1																																																																																				0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			10	330						10	330	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		8	504						8	504	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:83785564_83785565insT	ENST00000395310.2	-	11	1566_1567	c.1384_1385insA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.I234fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.I457fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)tgafs		SEC31 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785564_83785565insT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1385dupA	4.37:g.83785573_83785573dupT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs	p.*462fs			O94979	SC31A_HUMAN			11	1547_1548	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	ENST00000395310.2	37	c.1384_1385insA	CCDS3596.1																																																																																				0.356	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	321						10	321	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		8	646						8	646	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		13	431						13	431	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaagccfs	p.A541fs	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	541					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1623)aaccaafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864162_129864163insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1621dupA	4.37:g.129864170_129864170dupT	ENSP00000281142:p.Ala541fs					SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	p.NQ540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123_2124	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.1620_1621insA	CCDS3740.1																																																																																				0.356	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		8	547						8	547	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	406						9	406	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16676227	16676227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:16676227delA	ENST00000513610.1	-	34	5033	c.4579delT	c.(4579-4581)tacfs	p.Y1527fs	MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y884fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y884fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1527					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCGCTTGTAAATCTGTTCC	0.448																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4579-4581)acfs		myosin X							148.0	160.0	156.0					5																	16676227		1947	4139	6086	SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16676227delA	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4579delT	5.37:g.16676227delA	ENSP00000421280:p.Tyr1527fs					MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y884fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y884fs	p.Y1527fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			34	5033	-			1527					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Del	DEL	ENST00000513610.1	37	c.4579delT	CCDS54834.1																																																																																				0.448	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		145	237						145	237	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216400_149216402delCAG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		12	609						12	609	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		9	306						9	306	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																						ENST00000376797.3																			0																																																			0							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		10	154						10	154	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		14	405						14	405	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160931971	160931972	+	RNA	INS	-	-	A	rs544666070|rs377144382	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:160931971_160931972insA	ENST00000335388.5	-	0	166					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AATTATTACACAAAAAAAACTA	0.322																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160931971_160931972insA	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160931979_160931979dupA								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	166	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	INS	ENST00000335388.5	37																																																																																						0.322	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		8	548						8	548	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.262_263KK>K	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-789)aaa>aa		inhibin, beta A																																				SO:0001651	inframe_deletion	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729741_41729743delTTC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.786_788delGAA	7.37:g.41729750_41729752delTTC	ENSP00000242208:p.Lys263del	TSP Lung(11;0.080)				AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR	p.KK262del	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1032_1034	-			262					Q14599	In_Frame_Del	DEL	ENST00000242208.4	37	c.786_788delGAA	CCDS5464.1																																																																																				0.581	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			7	394						7	394	---	---	---	---
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95.0	104.0	101.0					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		7	1069						7	1069	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:48318519delA	ENST00000435803.1	+	18	7752	c.7728delA	c.(7726-7728)ttafs	p.L2576fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313																																						ENST00000435803.1																			5	Substitution - Missense(5)	p.L2576F(3)|p.L2521F(2)	prostate(5)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7726-7728)ttfs		ATP-binding cassette, sub-family A (ABC1), member 13							54.0	58.0	57.0					7																	48318519		1794	4039	5833	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318519delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7728delA	7.37:g.48318519delA	ENSP00000411096:p.Leu2576fs						p.L2576fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7752	+			2576					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.7728delA	CCDS47584.1																																																																																				0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	690						7	690	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62753023	62753024	+	RNA	DEL	AT	AT	-	rs200967315		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:62753023_62753024delAT	ENST00000331425.6	-	0	411_412					NR_003952.1				zinc finger protein 733, pseudogene																		GTTGACAAACATTGGTTAACTT	0.312																																						ENST00000331425.6																			0																																																			0							g.chr7:62753023_62753024delAT			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62753023_62753024delAT								NR_003952.1						0	411_412	-									RNA	DEL	ENST00000331425.6	37																																																																																						0.312	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			8	91						8	91	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_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			19	108						19	108	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		11	24						11	24	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:72040750_72040751insA	ENST00000435769.2	-	0	1909				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AACATCCCTAGAAAAAAAAAAT	0.332																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040750_72040751insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040760_72040760dupA										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.332	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		8	290						8	290	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		11	42						11	42	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760737	92760738	+	Frame_Shift_Ins	INS	-	-	T	rs10282508	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:92760737_92760738insT	ENST00000318238.4	-	5	5763_5764	c.4547_4548insA	c.(4546-4548)aatfs	p.N1516fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.N1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).		common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTGACTTCATTTTTTTTCCA	0.391																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4546-4548)agafs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760737_92760738insT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4548dupA	7.37:g.92760745_92760745dupT	ENSP00000326247:p.Asn1516fs					SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs	p.R1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5763_5764	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1516		N -> T (in dbSNP:rs10282508).			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4547_4548insA	CCDS34681.1																																																																																				0.391	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	816						7	816	---	---	---	---
TRIM4	89122	broad.mit.edu	37	7	99506323	99506325	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:99506323_99506325delTCT	ENST00000355947.2	-	4	807_809	c.678_680delAGA	c.(676-681)gaagag>gag	p.226_227EE>E	TRIM4_ENST00000354241.5_In_Frame_Del_p.200_201EE>E|TRIM4_ENST00000349062.2_In_Frame_Del_p.200_201EE>E	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	226					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCGTCTCTTCTTCTTCTT	0.443																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(676-681)gag>ga		tripartite motif containing 4			,	12,4252		5,2,2125					,	0.7	0.4			185	24,8230		12,0,4115	no	coding,coding	TRIM4	NM_033091.2,NM_033017.3	,	17,2,6240	A1A1,A1R,RR		0.2908,0.2814,0.2876	,	,		36,12482				SO:0001651	inframe_deletion	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99506323_99506325delTCT	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.678_680delAGA	7.37:g.99506332_99506334delTCT	ENSP00000348216:p.Glu227del					TRIM4_ENST00000354241.5_In_Frame_Del_p.EE200del|TRIM4_ENST00000349062.2_In_Frame_Del_p.EE200del	p.EE226del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			4	807_809	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	226					A4D298|Q75MK1|Q96F06|Q9C036	In_Frame_Del	DEL	ENST00000355947.2	37	c.678_680delAGA	CCDS5679.1																																																																																				0.443	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		8	840						8	840	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2140-2142)del		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100280978_100280980delCTG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2140_2142delCAG	7.37:g.100280987_100280989delCTG	ENSP00000275732:p.Gln714del						p.Q714del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3349_3351	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		714					Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.2140_2142delCAG	CCDS34708.1																																																																																				0.650	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		11	1268						11	1268	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:100482040_100482042delAGG	ENST00000347433.4	+	7	967_969	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_ENST00000388793.4_In_Frame_Del_p.E275del|SRRT_ENST00000457580.2_In_Frame_Del_p.E275del|SRRT_ENST00000432932.1_In_Frame_Del_p.E275del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	275	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(808-813)cag>c		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482040_100482042delAGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.809_811delAGG	7.37:g.100482049_100482051delAGG	ENSP00000314491:p.Glu275del					SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del	p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			7	1029_1031	+			270			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.809_811delAGG	CCDS34709.1																																																																																				0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		8	228						8	228	---	---	---	---
POLR2J	5439	broad.mit.edu	37	7	102119254	102119256	+	Splice_Site	DEL	CTT	CTT	-	rs141678884		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102119254_102119256delCTT	ENST00000292614.5	-	1	98_100	c.52_54delAAG	c.(52-54)aagdel	p.K18del	POLR2J_ENST00000393794.3_Splice_Site_p.K18del|AC093668.3_ENST00000607525.1_RNA	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	18					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)	p.?(1)		pancreas(2)	2						GCGTCACTTACTTCTTCTCGCCC	0.685											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292614.5																			1	Unknown(1)	p.?(1)	pancreas(1)	pancreas(2)	2						c.e1+1		polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa				54,3764		3,48,1858						2.5	1.0			17	108,7482		12,84,3699	no	coding-near-splice	POLR2J	NM_006234.4		15,132,5557	A1A1,A1R,RR		1.4229,1.4144,1.4201				162,11246				SO:0001630	splice_region_variant	5439				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity	g.chr7:102119254_102119256delCTT	X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.53+1AAG>-	7.37:g.102119257_102119259delCTT			OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364	POLR2J_ENST00000393794.3_Splice_Site_p.K18_splice	p.K18_splice	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN			1	98_100	-			18					A5D6V8|O43375	Splice_Site	DEL	ENST00000292614.5	37	c.53_splice	CCDS5724.1																																																																																				0.685	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317913.1	NM_006234	In_Frame_Del	9	217						9	217	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:104844170_104844172delGGT	ENST00000393651.3	-	3	219_221	c.132_134delACC	c.(130-135)ccaccg>ccg	p.44_45PP>P	SRPK2_ENST00000357311.3_In_Frame_Del_p.33_34PP>P|SRPK2_ENST00000489828.1_In_Frame_Del_p.33_34PP>P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552																																						ENST00000357311.3																			1	Substitution - coding silent(1)	p.P33P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(97-102)ccg>cc		SRSF protein kinase 2																																				SO:0001651	inframe_deletion	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104844170_104844172delGGT	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132_134delACC	7.37:g.104844179_104844181delGGT	ENSP00000377262:p.Pro47del					SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del	p.PP35del	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			2	270_272	-			35						In_Frame_Del	DEL	ENST00000393651.3	37	c.99_101delACC	CCDS34724.1																																																																																				0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		7	162						7	162	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105142878	105142878	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:105142878delT	ENST00000356362.2	-	5	933	c.719delA	c.(718-720)aagfs	p.K240fs	PUS7_ENST00000469408.1_Frame_Shift_Del_p.K240fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(718-720)agfs		pseudouridylate synthase 7 homolog (S. cerevisiae)							209.0	176.0	188.0					7																	105142878		2203	4300	6503	SO:0001589	frameshift_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105142878delT	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.719delA	7.37:g.105142878delT	ENSP00000348722:p.Lys240fs					PUS7_ENST00000469408.1_Frame_Shift_Del_p.K240fs	p.K240fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			5	933	-			240					Q75MG4|Q9NX19	Frame_Shift_Del	DEL	ENST00000356362.2	37	c.719delA	CCDS34725.1																																																																																				0.537	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		7	738						7	738	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120214	142120215	+	RNA	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:142120214_142120215delAC	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		acacatgcatacacacacacac	0.436																																						ENST00000390377.1																			0																																																			0							g.chr7:142120214_142120215delAC	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120224_142120225delAC														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.436	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		7	532						7	532	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-	rs540622203	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552														5	0.000998403	0.0015	0.0	5008	,	,		18692	0.002		0.0	False		,,,				2504	0.001					ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(778-780)del		nucleolar protein with MIF4G domain 1																																				SO:0001651	inframe_deletion	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743209_156743211delGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.778_780delGAG	7.37:g.156743218_156743220delGAG	ENSP00000275820:p.Glu264del						p.E264del	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	793_795	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	c.778_780delGAG	CCDS34787.1																																																																																				0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		10	385						10	385	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48648055	48648057	+	3'UTR	DEL	GGT	GGT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:48648055_48648057delGGT	ENST00000297423.4	+	0	3175_3177				SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000518074.1_In_Frame_Del_p.W876del|SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair						cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGGCTGCAAGGGTGGTGGTGGTG	0.468																																						ENST00000518074.1																			0											c.(2611-2616)ggg>g		scaffolding protein involved in DNA repair																																				SO:0001624	3_prime_UTR_variant	23514							g.chr8:48648055_48648057delGGT	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.*45GGT>-	8.37:g.48648064_48648066delGGT						SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR	p.GW871del							19	2783_2785	+								B4DFV2|B4E0Y6|Q96BI5	In_Frame_Del	DEL	ENST00000297423.4	37	c.2612_2614delGGT	CCDS43737.1																																																																																				0.468	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		7	267						7	267	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)atgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)tgfs		zinc finger protein 704							249.0	238.0	242.0					8																	81733778		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733778delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.52delA	8.37:g.81733778delT	ENSP00000331462:p.Met18fs						p.M18fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	283	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		18					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.52delA	CCDS34913.1																																																																																				0.423	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	2111						9	2111	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103291141	103291141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:103291141delA	ENST00000520539.1	-	44	6807	c.6201delT	c.(6199-6201)tttfs	p.F2067fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2067fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2061fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2067					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGGACGGCCAAAAAGATCCT	0.358																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6199-6201)ttfs		ubiquitin protein ligase E3 component n-recognin 5							113.0	127.0	122.0					8																	103291141		2203	4300	6503	SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291141delA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6201delT	8.37:g.103291141delA	ENSP00000429084:p.Phe2067fs					UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2067fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2061fs	p.F2067fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6807	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2067					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.6201delT	CCDS34933.1																																																																																				0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	1241						8	1241	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_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_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000497705.1_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	7	350						7	350	---	---	---	---
UTP23	84294	broad.mit.edu	37	8	117783760	117783760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:117783760delC	ENST00000309822.2	+	3	530	c.429delC	c.(427-429)aacfs	p.N143fs	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	143					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						TTATTCAGAACACTATGGTTT	0.348																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(427-429)aafs		UTP23, small subunit (SSU) processome component, homolog (yeast)							78.0	83.0	81.0					8																	117783760		2203	4300	6503	SO:0001589	frameshift_variant	84294				rRNA processing	nucleolus		g.chr8:117783760delC		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.429delC	8.37:g.117783760delC	ENSP00000308332:p.Asn143fs					UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron	p.N143fs	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	530	+			143					B2RE25|Q96NJ8	Frame_Shift_Del	DEL	ENST00000309822.2	37	c.429delC	CCDS6320.1																																																																																				0.348	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		27	785						27	785	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					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)				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)		CTCTTTTTCCTTTTTTTGGCT	0.393			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		0				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.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	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.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	p.R298fs	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	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	960						7	960	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(64-66)del		histidine rich carboxyl terminus 1				367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906348_35906350delCTG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del						p.L28del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	160_162	+			28					B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.64_66delCTG	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		10	154						10	154	---	---	---	---
RAD23B	5887	broad.mit.edu	37	9	110064366	110064366	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:110064366delA	ENST00000358015.3	+	3	550	c.199delA	c.(199-201)aaafs	p.K67fs	RAD23B_ENST00000416373.2_5'UTR	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	67	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGATGAGAAAAACTTTGT	0.303								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(199-201)aafs	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							146.0	154.0	151.0					9																	110064366		2203	4298	6501	SO:0001589	frameshift_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110064366delA		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.199delA	9.37:g.110064366delA	ENSP00000350708:p.Lys67fs					RAD23B_ENST00000416373.2_5'UTR	p.K67fs	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			3	550	+			67			Ubiquitin-like.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Frame_Shift_Del	DEL	ENST00000358015.3	37	c.199delA	CCDS6769.1																																																																																				0.303	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		94	425						94	425	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-	rs397514812|rs201192125	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.		Missing (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.64			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(1)|Unknown(1)	p.S1043N(1)|p.?(1)	central_nervous_system(1)|bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3127-3129)del		tuberous sclerosis 1																																				SO:0001651	inframe_deletion	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771988_135771990delGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3127_3129delAGC	9.37:g.135771997_135771999delGCT	ENSP00000298552:p.Ser1043del					TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3348_3350	-			1043			Poly-Ser.		B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.3127_3129delAGC	CCDS6956.1																																																																																				0.640	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			7	230						7	230	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000463095.1_5'UTR	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	390						9	390	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aaafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3076-3078)aafs		AT rich interactive domain 5B (MRF1-like)							66.0	75.0	72.0					10																	63852298		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852298delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3076delA	10.37:g.63852298delA	ENSP00000279873:p.Lys1027fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	p.K1027fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3486	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.3076delA	CCDS31208.1																																																																																				0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	517						7	517	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124758126	124758127	+	Frame_Shift_Ins	INS	-	-	T	rs202154688		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:124758126_124758127insT	ENST00000368886.5	-	3	335_336	c.15_16insA	c.(13-18)aaaccafs	p.P6fs	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(13-18)aacagafs		IKAROS family zinc finger 5 (Pegasus)																																				SO:0001589	frameshift_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124758126_124758127insT	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.16dupA	10.37:g.124758134_124758134dupT	ENSP00000357881:p.Pro6fs					IKZF5_ENST00000479103.1_5'UTR	p.NR5fs	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	3	335_336	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	5					B3KVH7|D3DRE7|Q9H2T0	Frame_Shift_Ins	INS	ENST00000368886.5	37	c.15_16insA	CCDS41574.1																																																																																				0.371	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		7	360						7	360	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		13	840						13	840	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(121-129)del		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			15	511						15	511	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		8	851						8	851	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		10	474						10	474	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	lincRNA	DEL	TCC	TCC	-	rs373116664		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:63533335_63533337delTCC	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							ctcctcttcttcctcctcctcct	0.67																																						ENST00000433688.1																			0													chromosome 11 open reading frame 95				177,2927		13,151,1388						-8.9	0.0			19	448,6300		26,396,2952	no	coding	C11orf95	NM_001144936.1		39,547,4340	A1A1,A1R,RR		6.639,5.7023,6.3439				625,9227						65998					intracellular	zinc ion binding	g.chr11:63533335_63533337delTCC																													11.37:g.63533344_63533346delTCC										C9JLR9	CK095_HUMAN			0	597_599	-									RNA	DEL	ENST00000546282.2	37																																																																																						0.670	RP11-466C23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000396567.2			2	4						2	4	---	---	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				FAU_ENST00000527548.1_In_Frame_Del_p.K102del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000529259.1_3'UTR|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000531743.1_In_Frame_Del_p.K102del	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						ENST00000529639.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aca>a		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del	p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN			5	696_698	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		13	399						13	399	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A	rs369320979		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated																																				SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694430_75694431insA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1->A	11.37:g.75694440_75694440dupA						UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site		NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	940_941	+								B3KTC1|O00392	Splice_Site	INS	ENST00000356136.3	37		CCDS8241.1																																																																																				0.302	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Intron	8	149						8	149	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		10	1280						10	1280	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7456934	7456935	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:7456934_7456935insT	ENST00000399422.4	+	1	55_56	c.7_8insT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						AACCATGAAGATTTTTTTCCGC	0.475																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)tttfs		acyl-CoA synthetase medium-chain family member 4																																				SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456934_7456935insT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.14dupT	12.37:g.7456941_7456941dupT	ENSP00000382349:p.Ile3fs						p.F3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	55_56	+			3					A8MTI6	Frame_Shift_Ins	INS	ENST00000399422.4	37	c.7_8insT	CCDS44825.1																																																																																				0.475	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		7	2251						7	2251	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	1623						9	1623	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			11	1215						11	1215	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		9	204						9	204	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		8	277						8	277	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			10	51						10	51	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			11	655						11	655	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	135						7	135	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	180						7	180	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-	rs181931922	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)ttcfs	p.F382fs	NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron	NM_001276385.1	NP_001263314.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338																																						ENST00000561114.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1144-1146)tcfs		NMDA receptor regulated 2							50.0	51.0	51.0					15																	60745782		2203	4297	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60745782delA																												ENST00000561114.1:c.1145delT	15.37:g.60745782delA	ENSP00000454162:p.Phe382fs					NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	p.F382fs	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN			9	1307	-			0						Frame_Shift_Del	DEL	ENST00000561114.1	37	c.1145delT																																																																																					0.338	NARG2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416605.1			7	248						7	248	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:69331226delT	ENST00000388866.3	+	9	1442	c.1401delT	c.(1399-1401)cctfs	p.P467fs	NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs|NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs|NOX5_ENST00000260364.5_Frame_Shift_Del_p.P449fs	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	467	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.H452fs*10(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGCGGCCCCCTTTTTTTCACT	0.537																																						ENST00000260364.5																			1	Deletion - Frameshift(1)	p.H452fs*10(1)	large_intestine(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1345-1347)ccfs		NADPH oxidase, EF-hand calcium binding domain 5							167.0	164.0	165.0					15																	69331226		2200	4298	6498	SO:0001589	frameshift_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69331226delT	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1401delT	15.37:g.69331226delT	ENSP00000373518:p.Pro467fs					NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs|NOX5_ENST00000388866.3_Frame_Shift_Del_p.P467fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs|NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs	p.P449fs			Q96PH1	NOX5_HUMAN			10	1648	+			467			C-terminal catalytic region.|FAD-binding FR-type.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Frame_Shift_Del	DEL	ENST00000388866.3	37	c.1347delT	CCDS32276.2																																																																																				0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	694						7	694	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70351067	70351068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:70351067_70351068insG	ENST00000558939.1	-	11	2229_2230	c.852_853insC	c.(850-855)cccaccfs	p.T285fs	TLE3_ENST00000539550.1_Frame_Shift_Ins_p.T229fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000317509.8_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.T278fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.T295fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.T285fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.T229fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.T290fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.T291fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.T290fs	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	285	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCAGGGCTGGTGGGGGCATCTT	0.604																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(850-855)ccccagfs		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70351067_70351068insG	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.853dupC	15.37:g.70351072_70351072dupG	ENSP00000452871:p.Thr285fs					TLE3_ENST00000317509.8_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.Q295fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.Q278fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.Q291fs	p.Q285fs			Q04726	TLE3_HUMAN			11	2229_2230	-			285			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Frame_Shift_Ins	INS	ENST00000558939.1	37	c.852_853insC	CCDS45293.1																																																																																				0.604	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		14	58						14	58	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974509	93974510	+	lincRNA	DEL	TC	TC	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:93974509_93974510delTC	ENST00000543286.1	+	0	545																											TTGGCTGGGTTCtttttttttt	0.431																																						ENST00000543286.1																			0																																																			0							g.chr15:93974509_93974510delTC																													15.37:g.93974509_93974510delTC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.431	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			11	196						11	196	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGGAGGTTGGGGGGGTGGG	0.577																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)aafs		Rho GTPase activating protein 17							114.0	128.0	123.0					16																	24942180		2197	4300	6497	SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942180delG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2440delC	16.37:g.24942180delG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	p.Q814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Del	DEL	ENST00000289968.6	37	c.2440delC	CCDS32409.1																																																																																				0.577	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		8	1388						8	1388	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1114-1116)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373787_27373789delGAG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del					IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1373_1375	+			376			Poly-Glu.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.1114_1116delGAG	CCDS10629.1																																																																																				0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			7	370						7	370	---	---	---	---
SLC6A10PB	653562	broad.mit.edu	37	16	32896136	32896137	+	lincRNA	DEL	TG	TG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:32896136_32896137delTG	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							agtggCCCATtgtgtgtgtgtg	0.678																																						ENST00000330048.5																			0																																																			0							g.chr16:32896136_32896137delTG																													16.37:g.32896146_32896147delTG								NR_003083.2						0	233	-									RNA	DEL	ENST00000398669.2	37																																																																																						0.678	RP11-989E6.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432084.1			4	5						4	5	---	---	---	---
KRT17P4	339186	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-	rs374561720	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:16748911_16748913delGCT	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CGCCCTCAAAGCTGCTGCTGCCA	0.65														2545	0.508187	0.5053	0.536	5008	,	,		12311	0.4067		0.5686	False		,,,				2504	0.5348					ENST00000580363.1																			0				lung(4)	4																																														0							g.chr17:16748911_16748913delGCT																													17.37:g.16748917_16748919delGCT														0	282_284	-									RNA	DEL	ENST00000578037.1	37																																																																																						0.650	AC022596.2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444295.1			13	34						13	34	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19232950	19232950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:19232950delA	ENST00000314728.5	+	9	1885	c.1401delA	c.(1399-1401)tcafs	p.S467fs	EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	467	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCGGACTTCAAAAAAAACAG	0.393																																						ENST00000314728.5																			1	Insertion - Frameshift(1)	p.T470fs*19(1)	lung(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1399-1401)tcfs		epsin 2							94.0	96.0	95.0					17																	19232950		2203	4300	6503	SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19232950delA	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1401delA	17.37:g.19232950delA	ENSP00000320543:p.Ser467fs					EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs	p.S467fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			9	1885	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		467			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Del	DEL	ENST00000314728.5	37	c.1401delA	CCDS11203.1																																																																																				0.393	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		11	419						11	419	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		14	1102						14	1102	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29096087	29096087	+	RNA	DEL	T	T	-	rs199852971		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:29096087delT	ENST00000582557.1	+	0	1381																											ATATTGGTAATTTTTTTTTTT	0.343																																						ENST00000582557.1																			0																																																			0							g.chr17:29096087delT																													17.37:g.29096087delT														0	1381	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.343	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			7	110						7	110	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	230						9	230	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38975362	38975370	+	In_Frame_Del	DEL	GCCGCCGTA	GCCGCCGTA	-	rs201343749|rs553516730		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38975362_38975370delGCCGCCGTA	ENST00000269576.5	-	7	1426_1434	c.1417_1425delTACGGCGGC	c.(1417-1425)tacggcggcdel	p.YGG473del	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	473	Gly-rich.|Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cggagcttccgccgccgtagccgccgccg	0.713																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(1417-1425)del		keratin 10																																				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975362_38975370delGCCGCCGTA	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1417_1425delTACGGCGGC	17.37:g.38975362_38975370delGCCGCCGTA	ENSP00000269576:p.Tyr473_Gly475del						p.YGG473del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			7	1426_1434	-		Breast(137;0.000301)	473			Gly-rich.|Tail.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.1417_1425delTACGGCGGC	CCDS11377.1																																																																																				0.713	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		11	49						11	49	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:56387404_56387406delTCC	ENST00000343736.4	-	21	3976_3978	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_ENST00000355701.3_In_Frame_Del_p.1271_1272EE>E|BZRAP1_ENST00000268893.6_In_Frame_Del_p.1211_1212EE>E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1271	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3811-3816)gaa>ga		benzodiazapine receptor (peripheral) associated protein 1			,	10,0,4254		4,0,2,0,0,2126					,	-7.0	0.1			91	24,2,8228		10,0,4,0,2,4111	no	codingComplex,codingComplex	BZRAP1	NM_024418.1,NM_004758.2	,	14,0,6,0,2,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.315,0.2345,0.2876	,	,		34,2,12482				SO:0001651	inframe_deletion	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387404_56387406delTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3813_3815delGGA	17.37:g.56387413_56387415delTCC	ENSP00000345824:p.Glu1274del					BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del	p.EE1273del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			21	4683_4685	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1273			Poly-Glu.		O75111|Q8N5W3	In_Frame_Del	DEL	ENST00000343736.4	37	c.3813_3815delGGA	CCDS11605.1																																																																																				0.586	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	283						7	283	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			7	74						7	74	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	346						7	346	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61378551	61378552	+	RNA	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61378551_61378552insT	ENST00000382749.5	+	0	413				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAAAAGATCCCTTTTTTTTCTT	0.337																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61378551_61378552insT			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61378559_61378559dupT						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	230	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	INS	ENST00000382749.5	37																																																																																						0.337	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		8	355						8	355	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		8	318						8	318	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		13	1063						13	1063	---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502590	12502590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:12502590delA	ENST00000430385.3	-	4	822	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF799_ENST00000419318.1_Frame_Shift_Del_p.W176fs|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAACTGGGCCAAAAAAACGCT	0.413																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(526-528)ggfs		zinc finger protein 799							86.0	89.0	88.0					19																	12502590		2203	4299	6502	SO:0001589	frameshift_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502590delA	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.622delT	19.37:g.12502590delA	ENSP00000411084:p.Trp208fs					ZNF799_ENST00000430385.3_Frame_Shift_Del_p.W208fs|CTD-3105H18.14_ENST00000435033.1_Intron	p.W176fs			Q96GE5	ZN799_HUMAN			4	1275	-			208						Frame_Shift_Del	DEL	ENST00000430385.3	37	c.526delT	CCDS45989.1																																																																																				0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		8	918						8	918	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948159_38948160delTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	1033						8	1033	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs147024666		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:43440068_43440069delAC	ENST00000406070.2	-	0	161				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43440068_43440069delAC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43440078_43440079delAC						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	154	-		Prostate(69;0.00682)						Q15232	RNA	DEL	ENST00000406070.2	37																																																																																						0.495	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		9	172						9	172	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		14	709						14	709	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			8	717						8	717	---	---	---	---
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-	rs200733272|rs371950649	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)ctgdel	p.L22del	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.69																																						ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)del		parathyroid hormone 2																																				SO:0001651	inframe_deletion	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926531_49926533delCAG	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64_66delCTG	19.37:g.49926540_49926542delCAG	ENSP00000270631:p.Leu22del						p.L22del	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165_167	-			22					Q96DJ4	In_Frame_Del	DEL	ENST00000270631.1	37	c.64_66delCTG	CCDS12763.1																																																																																				0.690	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		8	98						8	98	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			17	380						17	380	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000346587.4_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	0							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		7	259						7	259	---	---	---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(430-432)tcfs		BCL2-like 1							199.0	198.0	199.0					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	841	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144					E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		7	1732						7	1732	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1.0			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	340						8	340	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	485						7	485	---	---	---	---
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-	rs373347740		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)ggtfs	p.G214fs	LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_Frame_Shift_Del_p.G128fs	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(640-642)gtfs		t-complex 10-like							118.0	108.0	112.0					21																	33949091		2203	4300	6503	SO:0001589	frameshift_variant	140290							g.chr21:33949091delC	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.641delG	21.37:g.33949091delC	ENSP00000300258:p.Gly214fs					TCP10L_ENST00000491828.1_5'UTR	p.G214fs	NM_144659.5	NP_653260.1					5	754	-								Q53EW0|Q96LN5	Frame_Shift_Del	DEL	ENST00000300258.3	37	c.641delG	CCDS13616.1																																																																																				0.478	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		7	451						7	451	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			8	337						8	337	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1.0			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		9	200						9	200	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22664078	22664079	+	RNA	DEL	TT	TT	-	rs114253646|rs545024475	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:22664078_22664079delTT	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		TGTGTGTGTGTTTTTATCTTGC	0.381																																						ENST00000426066.1																			0																																																			0							g.chr22:22664078_22664079delTT			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664080_22664081delTT								NR_027293.1						0	623	+									RNA	DEL	ENST00000426066.1	37																																																																																						0.381	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	345						11	345	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		8	493						8	493	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		13	113						13	113	---	---	---	---
AR	367	broad.mit.edu	37	X	66765159	66765167	+	In_Frame_Del	DEL	GCAGCAGCA	GCAGCAGCA	-	rs137852575|rs200185441		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:66765159_66765167delGCAGCAGCA	ENST00000374690.3	+	1	695_703	c.171_179delGCAGCAGCA	c.(169-180)ctgcagcagcag>ctg	p.QQQ76del	AR_ENST00000504326.1_In_Frame_Del_p.QQQ76del|AR_ENST00000396044.3_In_Frame_Del_p.QQQ76del|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	76	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CI065812|CI994028|CM033749|CM054646|CM930034	AR	I|M	rs137852575|rs5902610	c.(169-180)ctg>ct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)																																			SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765159_66765167delGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.171_179delGCAGCAGCA	X.37:g.66765168_66765176delGCAGCAGCA	ENSP00000363822:p.Gln76_Gln78del					AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR	p.LQQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	695_703	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.171_179delGCAGCAGCA	CCDS14387.1																																																																																				0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		12	90						12	90	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		13	410						13	410	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		10	400						10	400	---	---	---	---
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		ATATGAAAATacacacacacac	0.302																																						ENST00000444169.1																			0																																																			0							g.chrY:23563322_23563323delAC	U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23563332_23563333delAC								NR_001574.2						0	86	-									RNA	DEL	ENST00000444169.1	37																																																																																						0.302	RBMY2EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471819.1	NR_001574		9	76						9	76	---	---	---	---
