#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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		22	510	0	0	0	1	0	22	510				
PSME4	23198	broad.mit.edu	37	2	54120082	54120082	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:54120082A>T	ENST00000404125.1	-	36	4109	c.4054T>A	c.(4054-4056)Ttt>Att	p.F1352I	PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.F1238V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATCATCAAAATTCCTGAAT	0.363																																						ENST00000404125.1																			1	Substitution - Missense(1)	p.F1238V(1)	pancreas(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4054-4056)Ttt>Att		proteasome (prosome, macropain) activator subunit 4							69.0	70.0	69.0					2																	54120082		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54120082A>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4054T>A	2.37:g.54120082A>T	ENSP00000384211:p.Phe1352Ile					PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	p.F1352I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		36	4109	-			1352					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4054T>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417319	0.83449	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64438	-0.1;-0.1	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.72118	2.19	0.80722	D	1	D;D;P	0.59357	0.985;0.959;0.954	P;P;P	0.59357	0.856;0.647;0.721	T	0.70230	-0.4929	10	0.15952	T	0.53	.	15.6258	0.76855	1.0:0.0:0.0:0.0	.	727;496;1352	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	I	496;1352	ENSP00000410830:F496I;ENSP00000384211:F1352I	ENSP00000384211:F1352I	F	-	1	0	PSME4	53973586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.105000	0.64084	0.454000	0.30748	TTT		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		54	237	0	0	0	1	0	54	237				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					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						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					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.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	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.chr2:109371498G>A	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.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1362	0	0	0	1	0	7	1362				
NGEF	25791	broad.mit.edu	37	2	233785159	233785159	+	Silent	SNP	C	C	T	rs533719625	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:233785159C>T	ENST00000264051.3	-	5	941	c.663G>A	c.(661-663)gaG>gaA	p.E221E	NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	221	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E221E(3)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		cctcctcctcctcttcttctt	0.572																																						ENST00000264051.3																			3	Substitution - coding silent(3)	p.E221E(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(661-663)gaG>gaA		neuronal guanine nucleotide exchange factor							68.0	72.0	71.0					2																	233785159		2203	4300	6503	SO:0001819	synonymous_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785159C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.663G>A	2.37:g.233785159C>T						NGEF_ENST00000373552.4_Silent_p.E129E|NGEF_ENST00000409079.1_Silent_p.E129E	p.E221E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	941	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	221			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	c.663G>A	CCDS2500.1																																																																																				0.572	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	438	0	0	0	1	0	7	438				
ZNF473	25888	broad.mit.edu	37	19	50549989	50549989	+	Silent	SNP	C	C	T	rs147792590	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50549989C>T	ENST00000595661.1	+	6	2784	c.2289C>T	c.(2287-2289)tgC>tgT	p.C763C	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C763C|ZNF473_ENST00000445728.3_Silent_p.C751C|ZNF473_ENST00000270617.3_Silent_p.C763C|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	763					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTCAGGAATGCGGGAAAGCCT	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2287-2289)tgC>tgT		zinc finger protein 473		C	,	0,4406		0,0,2203	82.0	81.0	81.0		2289,2289	-0.5	1.0	19	dbSNP_134	81	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	,	763/872,763/872	50549989	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549989C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2289C>T	19.37:g.50549989C>T			OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C763C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.C751C|ZNF473_ENST00000270617.3_Silent_p.C763C|ZNF473_ENST00000601364.1_Intron	p.C763C			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2784	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	763					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.2289C>T	CCDS33077.1																																																																																				0.522	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		6	581	0	0	0	1	0	6	581				
KIR3DL1	3811	broad.mit.edu	37	19	55284925	55284925	+	Intron	SNP	C	C	T	rs375476159		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:55284925C>T	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R71C			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)			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)		CGACACTTTGCGCCTCATTGG	0.507																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(211-213)Cgc>Tgc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1		A	CYS/ARG	0,4350		0,0,2175	103.0	92.0	96.0		211	-1.5	0.0	19		96	3,8387		1,1,4193	no	missense	KIR2DL1	NM_014218.2	180	1,1,6368	TT,TC,CC		0.0358,0.0,0.0235		71/349	55284925	3,12737	2175	4195	6370	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284925C>T	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.35-44064C>T	19.37:g.55284925C>T						KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	p.R71C	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	251	+			71			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.211C>T		.	.	.	.	.	.	.	.	.	.	C	4.125	0.021358	0.08006	0.0	3.58E-4	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.22539	1.95;1.95	1.24	-1.49	0.08718	.	.	.	.	.	T	0.17408	0.0418	L	0.52126	1.63	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.19666	0.026;0.02	T	0.31251	-0.9950	9	0.59425	D	0.04	.	5.28	0.15670	0.0:0.6946:0.0:0.3054	.	71;71	Q6IST4;Q6H2H3	.;.	C	71	ENSP00000336769:R71C;ENSP00000291633:R71C	ENSP00000291633:R71C	R	+	1	0	KIR2DL1	59976737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.387000	0.02535	-0.432000	0.07297	-0.745000	0.03516	CGC		0.507	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		7	899	0	0	0	1	0	7	899				
UMODL1	89766	broad.mit.edu	37	21	43543258	43543258	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000408910.2	+	17	3145	c.3145A>C	c.(3145-3147)Agc>Cgc	p.S1049R	UMODL1_ENST00000400427.1_Missense_Mutation_p.S1105R|UMODL1_ENST00000400424.2_Missense_Mutation_p.S977R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1049	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTCATGCAGAGCGTAAGACC	0.622																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3313-3315)Agc>Cgc		uromodulin-like 1							37.0	39.0	38.0					21																	43543258		2103	4211	6314	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543258A>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3145A>C	21.37:g.43543258A>C	ENSP00000386147:p.Ser1049Arg					UMODL1_ENST00000400424.1_Missense_Mutation_p.S977R|UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR	p.S1105R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			16	3709	+			1049			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3313A>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.328296	0.41197	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	3.13	3.13	0.36017	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.506608	0.16330	N	0.219167	D	0.84772	0.5546	L	0.52266	1.64	0.38979	D	0.958909	D;D	0.76494	0.999;0.999	D;D	0.73708	0.976;0.981	D	0.83927	0.0304	9	.	.	.	-11.4154	10.9262	0.47191	1.0:0.0:0.0:0.0	.	1177;1049	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1105;977;1177;1049	ENSP00000383279:S1105R;ENSP00000383276:S977R;ENSP00000386126:S1177R;ENSP00000386147:S1049R	.	S	+	1	0	UMODL1	42416327	1.000000	0.71417	0.959000	0.39883	0.192000	0.23643	4.772000	0.62324	1.674000	0.50907	0.260000	0.18958	AGC		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			30	166	0	0	0	1	0	30	166				
FGFRL1	53834	broad.mit.edu	37	4	1019074	1019074	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1019074A>T	ENST00000398484.2	+	8	2034	c.1454A>T	c.(1453-1455)cAc>cTc	p.H485L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	485	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacacactctcacaca	0.607																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1453-1455)cAc>cTc		fibroblast growth factor receptor-like 1							12.0	15.0	14.0					4																	1019074		2176	4280	6456	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019074A>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1454A>T	4.37:g.1019074A>T	ENSP00000381498:p.His485Leu					FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L	p.H485L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2034	+			485			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1454A>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363242	0.11296	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	1.69	1.69	0.24217	.	0.000000	0.36002	N	0.002841	T	0.64249	0.2581	N	0.14661	0.345	0.23293	N	0.997964	D	0.71674	0.998	D	0.73708	0.981	T	0.59958	-0.7356	10	0.02654	T	1	.	5.4666	0.16646	1.0:0.0:0.0:0.0	.	485	Q8N441	FGRL1_HUMAN	L	485	ENSP00000381498:H485L;ENSP00000425025:H485L;ENSP00000423091:H485L;ENSP00000264748:H485L	ENSP00000264748:H485L	H	+	2	0	FGFRL1	1009074	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	6.796000	0.75145	1.039000	0.40074	0.533000	0.62120	CAC		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		5	142	0	0	0	1	0	5	142				
CUX2	23316	broad.mit.edu	37	12	111758041	111758041	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:111758041C>A	ENST00000261726.6	+	17	2382	c.2228C>A	c.(2227-2229)gCc>gAc	p.A743D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	743					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						GGGGCCCCGGCCTTGGTGAAG	0.756																																						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.(2227-2229)gCc>gAc		cut-like homeobox 2							4.0	6.0	6.0					12																	111758041		1429	3326	4755	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758041C>A	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.2228C>A	12.37:g.111758041C>A	ENSP00000261726:p.Ala743Asp						p.A743D	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2382	+			743					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2228C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316955	0.23908	.	.	ENSG00000111249	ENST00000261726	T	0.49432	0.78	4.22	4.22	0.49857	.	0.488256	0.23708	N	0.045351	T	0.34308	0.0893	L	0.36672	1.1	0.25926	N	0.983054	B	0.20052	0.041	B	0.16289	0.015	T	0.21109	-1.0255	10	0.52906	T	0.07	-3.2681	6.6322	0.22863	0.1789:0.7291:0.0:0.092	.	743	O14529	CUX2_HUMAN	D	743	ENSP00000261726:A743D	ENSP00000261726:A743D	A	+	2	0	CUX2	110242424	0.985000	0.35326	0.297000	0.24988	0.186000	0.23388	3.416000	0.52707	1.909000	0.55274	0.485000	0.47835	GCC		0.756	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	59	1	0	7.03913e-09	1	7.52458e-09	12	59				
B4GALNT2	124872	broad.mit.edu	37	17	47247085	47247085	+	Missense_Mutation	SNP	G	G	A	rs199908433	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:47247085G>A	ENST00000300404.2	+	11	1755	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A480T|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A506T|RP11-708H21.4_ENST00000575159.1_lincRNA	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	566					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAATGTGCCGCATAAAGGTG	0.512													G|||	4	0.000798722	0.0008	0.0	5008	,	,		21396	0.003		0.0	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1696-1698)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 2		G	THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	61.0	50.0	54.0		1516,1438,1696	2.3	0.0	17		54	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	58,58,58	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	506/507,480/481,566/567	47247085	5,13001	2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247085G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1696G>A	17.37:g.47247085G>A	ENSP00000300404:p.Ala566Thr					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A506T|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A480T	p.A566T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1755	+			566					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1696G>A	CCDS11544.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.91	1.483184	0.26598	9.08E-4	1.16E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.27104	1.69;1.69;1.89	5.79	2.34	0.29019	.	0.735547	0.12189	N	0.491324	T	0.04182	0.0116	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38394	-0.9663	10	0.02654	T	1	.	1.6151	0.02701	0.5658:0.143:0.1537:0.1375	.	506;566	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	T	480;506;566	ENSP00000425510:A480T;ENSP00000377022:A506T;ENSP00000300404:A566T	ENSP00000300404:A566T	A	+	1	0	B4GALNT2	44602084	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.156000	0.16382	0.107000	0.17824	-1.762000	0.00668	GCA		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		4	225	0	0	0	1	0	4	225				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_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		9	297	1	0	1.5842e-08	1	1.67184e-08	9	297				
RGPD3	653489	broad.mit.edu	37	2	107032411	107032411	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:107032411T>G	ENST00000409886.3	-	21	5046	c.4959A>C	c.(4957-4959)gaA>gaC	p.E1653D	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1653					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACCAATTCTTCTTTAGTAA	0.378																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4957-4959)gaA>gaC		RANBP2-like and GRIP domain containing 3							101.0	77.0	85.0					2																	107032411		670	1543	2213	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107032411T>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4959A>C	2.37:g.107032411T>G	ENSP00000386588:p.Glu1653Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			21	5046	-			1653					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.4959A>C	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.697	0.129520	0.08981	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.47869	0.83;0.83	0.701	0.701	0.18104	.	.	.	.	.	T	0.35335	0.0928	N	0.08118	0	0.23016	N	0.998425	P	0.52463	0.953	P	0.53988	0.739	T	0.16276	-1.0408	9	0.62326	D	0.03	-0.566	5.6646	0.17689	0.0:0.0:0.0:1.0	.	1653	A6NKT7	RGPD3_HUMAN	D	27;1653;1020;1653	ENSP00000386588:E1653D;ENSP00000303659:E1653D	ENSP00000303659:E1653D	E	-	3	2	RGPD3	106398843	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	0.557000	0.23454	0.561000	0.29186	0.138000	0.15974	GAA		0.378	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		47	296	0	0	0	1	0	47	296				
TRPM4	54795	broad.mit.edu	37	19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T	rs376262811		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	144					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGGCTGGTGCGGGCTGCCCA	0.731																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(430-432)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 4		C	TRP/ARG,TRP/ARG	1,4399		0,1,2199	28.0	33.0	31.0		430,430	2.0	1.0	19		31	0,8590		0,0,4295	no	missense,missense	TRPM4	NM_001195227.1,NM_017636.3	101,101	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	144/1070,144/1215	49671336	1,12989	2200	4295	6495	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671336C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.430C>T	19.37:g.49671336C>T	ENSP00000252826:p.Arg144Trp					TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	p.R144W	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	4	556	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	144					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.430C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880335	0.72294	2.27E-4	0.0	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.03301	3.98;3.98	4.33	1.96	0.26148	.	0.086004	0.46442	D	0.000284	T	0.12050	0.0293	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.952	T	0.01537	-1.1330	10	0.87932	D	0	-31.9032	10.4113	0.44294	0.5303:0.4697:0.0:0.0	.	144;144	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	W	144	ENSP00000252826:R144W;ENSP00000407492:R144W	ENSP00000252826:R144W	R	+	1	2	TRPM4	54363148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.336000	0.43938	1.142000	0.42291	0.491000	0.48974	CGG		0.731	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		5	474	0	0	0	1	0	5	474				
UBXN11	91544	broad.mit.edu	37	1	26608892	26608892	+	Silent	SNP	G	G	A	rs367932248|rs200210107		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000357089.4_Silent_p.P454P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49.0	60.0	56.0		1101,1362,1461	0.6	0.0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374217.2_Silent_p.P454P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		7	444	0	0	0	1	0	7	444				
C2orf16	84226	broad.mit.edu	37	2	27804477	27804477	+	Missense_Mutation	SNP	G	G	A	rs112465116		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:27804477G>A	ENST00000408964.2	+	1	5089	c.5038G>A	c.(5038-5040)Ggt>Agt	p.G1680S	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1680	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGCCATCGCGGTCCCTCAGA	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5038-5040)Ggt>Agt		chromosome 2 open reading frame 16							146.0	151.0	149.0					2																	27804477		1915	4123	6038	SO:0001583	missense	84226							g.chr2:27804477G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5038G>A	2.37:g.27804477G>A	ENSP00000386190:p.Gly1680Ser						p.G1680S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5089	+	Acute lymphoblastic leukemia(172;0.155)		1680			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5038G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351775	0.01256	.	.	ENSG00000221843	ENST00000408964	T	0.04454	3.62	3.19	-4.08	0.03963	.	.	.	.	.	T	0.01029	0.0034	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	9	0.02654	T	1	.	2.0493	0.03567	0.4884:0.1249:0.2645:0.1222	.	1680	Q68DN1	CB016_HUMAN	S	1680	ENSP00000386190:G1680S	ENSP00000386190:G1680S	G	+	1	0	C2orf16	27657981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.202000	0.17295	-1.349000	0.02202	-5.380000	0.00001	GGT		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	1196	0	0	0	1	0	7	1196				
NPIPA5	100288332	broad.mit.edu	37	16	15457755	15457755	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:15457755A>T	ENST00000360151.4	-	8	813	c.814T>A	c.(814-816)Tat>Aat	p.Y272N		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	272	Pro-rich.																GGAAGGGGATAGAGCAGACGC	0.512																																						ENST00000360151.4																			0											c.(814-816)Tat>Aat		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457755A>T		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.814T>A	16.37:g.15457755A>T	ENSP00000433597:p.Tyr272Asn						p.Y272N	NM_001277325.1	NP_001264254.1					8	813	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.814T>A	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	1.287	-0.608637	0.03717	.	.	ENSG00000183793	ENST00000360151	T	0.40476	1.03	.	.	.	.	.	.	.	.	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.23547	-1.0185	4	0.27785	T	0.31	.	.	.	.	.	.	.	.	N	272	ENSP00000433597:Y272N	ENSP00000433597:Y272N	Y	-	1	0	RP11-82O18.1	15365256	.	.	.	.	.	.	.	.	.	.	.	.	TAT		0.512	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			6	462	0	0	0	1	0	6	462				
SLC52A3	113278	broad.mit.edu	37	20	744268	744268	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:744268C>T	ENST00000217254.7	-	3	1188	c.947G>A	c.(946-948)gGc>gAc	p.G316D	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G316D	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	316					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGGCAGCATGCCGTTGGTGAG	0.632																																						ENST00000381944.3																			0											c.(946-948)gGc>gAc		solute carrier family 52 (riboflavin transporter), member 3							137.0	111.0	120.0					20																	744268		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744268C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.947G>A	20.37:g.744268C>T	ENSP00000217254:p.Gly316Asp					SLC52A3_ENST00000217254.7_Missense_Mutation_p.G316D|SLC52A3_ENST00000473664.1_Intron	p.G316D			Q9NQ40	RFT2_HUMAN			3	1188	-			316					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.947G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764578	0.89932	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80909	-1.43;-1.43	5.07	5.07	0.68467	.	0.046804	0.85682	D	0.000000	D	0.91012	0.7173	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.65773	0.897;0.938	D	0.92984	0.6409	10	0.87932	D	0	-18.2595	17.0351	0.86473	0.0:1.0:0.0:0.0	.	316;316	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	D	316	ENSP00000217254:G316D;ENSP00000371370:G316D	ENSP00000217254:G316D	G	-	2	0	C20orf54	692268	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.995000	0.70631	2.359000	0.80004	0.561000	0.74099	GGC		0.632	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		5	584	0	0	0	1	0	5	584				
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	rs190733334	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		21764	0.003		0.0	False		,,,				2504	0.0					ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(226-228)gCg>gTg		Rho GTPase activating protein 28							224.0	213.0	217.0					18																	6859874		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859874C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.704C>T	18.37:g.6859874C>T	ENSP00000372964:p.Ala235Val					ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V	p.A76V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			4	444	+		Colorectal(10;0.168)	58					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.227C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		6	450	0	0	0	1	0	6	450				
IRS2	8660	broad.mit.edu	37	13	110434482	110434482	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:110434482C>T	ENST00000375856.3	-	1	4433	c.3919G>A	c.(3919-3921)Ggg>Agg	p.G1307R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1307					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCGGCCCCCCGCACCCGCCG	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3919-3921)Ggg>Agg		insulin receptor substrate 2							7.0	11.0	10.0					13																	110434482		2019	4064	6083	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434482C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3919G>A	13.37:g.110434482C>T	ENSP00000365016:p.Gly1307Arg						p.G1307R	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4433	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1307					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3919G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464796	0.26335	.	.	ENSG00000185950	ENST00000375856	T	0.59906	0.23	4.12	3.25	0.37280	.	0.226724	0.22451	U	0.059897	T	0.35128	0.0921	N	0.24115	0.695	0.09310	N	0.999996	P	0.42961	0.795	B	0.28709	0.093	T	0.19257	-1.0311	10	0.51188	T	0.08	-15.5233	10.7615	0.46268	0.1915:0.8085:0.0:0.0	.	1307	Q9Y4H2	IRS2_HUMAN	R	1307	ENSP00000365016:G1307R	ENSP00000365016:G1307R	G	-	1	0	IRS2	109232483	0.998000	0.40836	0.189000	0.23252	0.049000	0.14656	1.090000	0.30902	0.910000	0.36722	0.462000	0.41574	GGG		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		24	107	0	0	0	1	0	24	107				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T														0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			7	185	0	0	0	1	0	7	185				
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg		leucine zipper protein 1		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	143.0	140.0		2251,2251	3.4	1.0	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418504G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp					LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		6	882	0	0	0	1	0	6	882				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	216	0	0	0	1	0	5	216				
MYOM2	9172	broad.mit.edu	37	8	2041801	2041801	+	Missense_Mutation	SNP	G	G	A	rs367658424		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:2041801G>A	ENST00000262113.4	+	17	2149	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	670	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCAGGTTCGTGGTGCACGG	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2008-2010)Gtg>Atg		myomesin 2							141.0	115.0	124.0					8																	2041801		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041801G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2008G>A	8.37:g.2041801G>A	ENSP00000262113:p.Val670Met					MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	p.V670M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2149	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	670			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2008G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095427	0.76870	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.57595	0.39;0.39	5.44	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065948	0.64402	D	0.000013	T	0.70307	0.3209	M	0.76328	2.33	0.41362	D	0.987435	D	0.76494	0.999	D	0.65443	0.935	T	0.75238	-0.3388	10	0.72032	D	0.01	.	14.5057	0.67750	0.071:0.0:0.929:0.0	.	670	P54296	MYOM2_HUMAN	M	670;95	ENSP00000262113:V670M;ENSP00000428396:V95M	ENSP00000262113:V670M	V	+	1	0	MYOM2	2029208	1.000000	0.71417	0.913000	0.36048	0.847000	0.48162	6.115000	0.71566	1.298000	0.44778	0.655000	0.94253	GTG		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		67	324	0	0	0	1	0	67	324				
SLC12A7	10723	broad.mit.edu	37	5	1081769	1081769	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:1081769C>T	ENST00000264930.5	-	9	1263	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	407					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGGCAGTGCGCTGGCACGGCT	0.657																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1219-1221)aGc>aAc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						99.0	87.0	91.0					5																	1081769		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081769C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1220G>A	5.37:g.1081769C>T	ENSP00000264930:p.Ser407Asn						p.S407N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1263	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		407					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1220G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107775	0.08780	.	.	ENSG00000113504	ENST00000264930	D	0.84442	-1.85	4.09	1.77	0.24775	.	1.016290	0.07831	N	0.961315	T	0.77765	0.4179	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58713	-0.7588	10	0.15066	T	0.55	.	8.0261	0.30438	0.0:0.5903:0.3043:0.1054	.	407	Q9Y666	S12A7_HUMAN	N	407	ENSP00000264930:S407N	ENSP00000264930:S407N	S	-	2	0	SLC12A7	1134769	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.155000	0.16362	0.686000	0.31488	0.491000	0.48974	AGC		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	412	0	0	0	1	0	5	412				
LINC00842	643650	broad.mit.edu	37	10	47133376	47133376	+	lincRNA	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:47133376G>A	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		TGCTGGAACCGCCAATAGCCA	0.498																																						ENST00000422732.2																			0																																																			0							g.chr10:47133376G>A			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133376G>A								NR_033957.1						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.498	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		5	521	0	0	0	1	0	5	521				
VIPAS39	63894	broad.mit.edu	37	14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259.0	204.0	222.0					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		7	830	0	0	0	1	0	7	830				
COL1A2	1278	broad.mit.edu	37	7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2488-2490)Cga>Tga		collagen, type I, alpha 2	Collagenase(DB00048)						156.0	145.0	149.0					7																	94052353		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052353C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2488C>T	7.37:g.94052353C>T	ENSP00000297268:p.Arg830*	HNSCC(75;0.22)					p.R830*	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2959	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		830		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.2488C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		105	424	0	0	0	1	0	105	424				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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		9	316	0	0	0	1	0	9	316				
ILF3	3609	broad.mit.edu	37	19	10793838	10793838	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10793838G>A	ENST00000590261.1	+	13	1574	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000449870.1_Missense_Mutation_p.G529D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	525	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAGCACGGCAAGAACCCA	0.557																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1585-1587)gGc>gAc		interleukin enhancer binding factor 3, 90kDa							96.0	98.0	97.0					19																	10793838		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793838G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1574G>A	19.37:g.10793838G>A	ENSP00000468156:p.Gly525Asp					ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000590261.1_Missense_Mutation_p.G525D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D	p.G529D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	1903	+			525			DRBM 2.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1586G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288199	0.95517	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.18174	2.28;2.23;2.26;2.31;2.26	5.83	5.83	0.93111	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.113792	0.64402	D	0.000011	T	0.39572	0.1083	L	0.49126	1.545	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;0.998;0.999;0.999;0.176;0.992	D;D;D;D;B;P	0.91635	0.999;0.943;0.941;0.968;0.191;0.906	T	0.04467	-1.0949	10	0.87932	D	0	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	529;529;525;529;525;525	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	D	525;529;525;525;529;525	ENSP00000404121:G529D;ENSP00000315205:G525D;ENSP00000405436:G525D;ENSP00000384660:G529D;ENSP00000250241:G525D	ENSP00000250241:G525D	G	+	2	0	ILF3	10654838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.771000	0.98977	2.761000	0.94854	0.650000	0.86243	GGC		0.557	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			5	594	0	0	0	1	0	5	594				
ENAM	10117	broad.mit.edu	37	4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1117-1119)Cgt>Agt		enamelin							109.0	114.0	112.0					4																	71508260		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508260C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1117C>A	4.37:g.71508260C>A	ENSP00000379383:p.Arg373Ser					ENAM_ENST00000472903.1_Intron	p.R373S	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1398	+			373					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1117C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996778	0.19043	.	.	ENSG00000132464	ENST00000396073	T	0.31510	1.49	5.93	1.05	0.20165	.	0.946121	0.08814	N	0.889824	T	0.37489	0.1005	M	0.69358	2.11	0.09310	N	1	P	0.43024	0.798	P	0.48488	0.579	T	0.24083	-1.0170	10	0.48119	T	0.1	0.5722	4.3221	0.11022	0.4017:0.3948:0.1299:0.0735	.	373	Q9NRM1	ENAM_HUMAN	S	373	ENSP00000379383:R373S	ENSP00000379383:R373S	R	+	1	0	ENAM	71727124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.768000	0.26590	-0.116000	0.11893	-0.182000	0.12963	CGT		0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		167	632	1	0	7.07589e-82	1	7.83402e-82	167	632				
MYO9A	4649	broad.mit.edu	37	15	72338352	72338352	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:72338352C>T	ENST00000356056.5	-	2	1025	c.553G>A	c.(553-555)Gtt>Att	p.V185I	MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	185	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGTTAATAACTATTAGAATA	0.328																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(553-555)Gtt>Att		myosin IXA							64.0	68.0	67.0					15																	72338352		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338352C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.553G>A	15.37:g.72338352C>T	ENSP00000348349:p.Val185Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I	p.V185I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1025	-			185			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.553G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.825008	0.71143	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88201	-2.35;-2.35;-2.35	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.89037	0.6601	L	0.52573	1.65	0.50171	D	0.999851	P;B;B	0.35139	0.486;0.38;0.268	B;B;B	0.39339	0.268;0.197;0.297	D	0.88674	0.3197	9	0.87932	D	0	.	20.1223	0.97967	0.0:1.0:0.0:0.0	.	185;185;185	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	185	ENSP00000348349:V185I;ENSP00000399162:V185I;ENSP00000398250:V185I	ENSP00000261864:V185I	V	-	1	0	MYO9A	70125406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.749000	0.94314	0.650000	0.86243	GTT		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		81	332	0	0	0	1	0	81	332				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	279	0	0	0	1	0	6	279				
ZNF217	7764	broad.mit.edu	37	20	52198591	52198591	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198591G>A	ENST00000371471.2	-	2	1200	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S			O75362	ZN217_HUMAN	zinc finger protein 217	259					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCGAGGACGGCATTCCTCCT	0.512																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(775-777)Ccg>Tcg		zinc finger protein 217							102.0	97.0	99.0					20																	52198591		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198591G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.775C>T	20.37:g.52198591G>A	ENSP00000360526:p.Pro259Ser					ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S	p.P259S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1200	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		259					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.775C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518688	0.04171	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08634	3.07;3.07	5.46	-0.716	0.11212	.	0.952709	0.08770	N	0.896438	T	0.05686	0.0149	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.43734	-0.9373	10	0.33141	T	0.24	-5.7251	2.3642	0.04315	0.1675:0.1085:0.1954:0.5286	.	259	O75362	ZN217_HUMAN	S	259	ENSP00000360526:P259S;ENSP00000304308:P259S	ENSP00000304308:P259S	P	-	1	0	ZNF217	51631998	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.254000	0.08781	0.235000	0.21160	0.591000	0.81541	CCG		0.512	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		6	731	0	0	0	1	0	6	731				
OSBPL8	114882	broad.mit.edu	37	12	76791663	76791663	+	Silent	SNP	T	T	C	rs35436760	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:76791663T>C	ENST00000261183.3	-	8	962	c.483A>G	c.(481-483)ctA>ctG	p.L161L	OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	161	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCAGCTCTTTAGAGTACCAC	0.363													T|||	13	0.00259585	0.0076	0.0	5008	,	,		17987	0.0		0.002	False		,,,				2504	0.001					ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(481-483)ctA>ctG		oxysterol binding protein-like 8		T	,	32,4374	36.8+/-68.6	0,32,2171	78.0	71.0	73.0		357,483	-4.0	0.9	12	dbSNP_126	73	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	OSBPL8	NM_001003712.1,NM_020841.4	,	0,36,6467	CC,CT,TT		0.0465,0.7263,0.2768	,	119/848,161/890	76791663	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76791663T>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.483A>G	12.37:g.76791663T>C						OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	p.L161L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			8	962	-			161			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.483A>G	CCDS31862.1																																																																																				0.363	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		58	224	0	0	0	1	0	58	224				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	248	0	0	0	1	0	7	248				
ZNF581	51545	broad.mit.edu	37	19	56156512	56156512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:56156512C>T	ENST00000587252.1	+	2	848	c.575C>T	c.(574-576)aCg>aTg	p.T192M	CCDC106_ENST00000586790.1_5'Flank|CCDC106_ENST00000308964.3_5'Flank|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M|ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAGAAACACACGCGGTGGAAG	0.632																																						ENST00000587252.1																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(574-576)aCg>aTg		zinc finger protein 581							39.0	40.0	40.0					19																	56156512		2203	4300	6503	SO:0001583	missense	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56156512C>T	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.575C>T	19.37:g.56156512C>T	ENSP00000466047:p.Thr192Met					ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M	p.T192M			Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	848	+		Ovarian(87;0.133)	192					B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	37	c.575C>T	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800114	0.31869	.	.	ENSG00000171425	ENST00000270451	T	0.09538	2.97	3.5	0.0648	0.14354	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.00760	-1.21	0.24781	N	0.992819	D	0.67145	0.996	P	0.53649	0.731	T	0.36432	-0.9748	9	0.87932	D	0	.	6.9073	0.24315	0.0:0.4032:0.0:0.5968	.	192	Q9P0T4	ZN581_HUMAN	M	192	ENSP00000270451:T192M	ENSP00000270451:T192M	T	+	2	0	ZNF581	60848324	0.000000	0.05858	0.014000	0.15608	0.453000	0.32348	-0.054000	0.11826	-0.004000	0.14419	0.407000	0.27541	ACG		0.632	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535		5	445	0	0	0	1	0	5	445				
GABRA5	2558	broad.mit.edu	37	15	27128316	27128316	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:27128316G>A	ENST00000335625.5	+	5	1100	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTTTCAGAGCGCATCACTCAG	0.612																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(211-213)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						70.0	80.0	77.0					15																	27128316		2147	4228	6375	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128316G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.212G>A	15.37:g.27128316G>A	ENSP00000335592:p.Arg71His					GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000557449.1_Intron	p.R71H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	1100	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	71					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.212G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426900	0.83667	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.13;-1.26;-1.26;-1.26	5.39	4.47	0.54385	Neurotransmitter-gated ion-channel ligand-binding (3);	0.318671	0.37857	N	0.001907	T	0.81054	0.4743	L	0.55481	1.735	0.36586	D	0.873815	D	0.58268	0.982	P	0.54372	0.75	D	0.86010	0.1500	10	0.72032	D	0.01	.	13.2492	0.60041	0.0765:0.0:0.9235:0.0	.	71	P31644	GBRA5_HUMAN	H	71;71;39;71;71;71;71;39	ENSP00000335592:R71H;ENSP00000347557:R71H;ENSP00000450653:R39H;ENSP00000382953:R71H;ENSP00000451527:R71H;ENSP00000450806:R71H;ENSP00000450717:R71H;ENSP00000450529:R39H	ENSP00000335592:R71H	R	+	2	0	GABRA5	24679409	0.996000	0.38824	0.989000	0.46669	0.806000	0.45545	3.505000	0.53356	1.405000	0.46838	0.555000	0.69702	CGC		0.612	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			4	223	0	0	0	1	0	4	223				
MUC7	4589	broad.mit.edu	37	4	71347018	71347018	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71347018C>A	ENST00000304887.5	+	3	747	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	MUC7_ENST00000456088.1_Missense_Mutation_p.P186Q|MUC7_ENST00000413702.1_Missense_Mutation_p.P186Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	186	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.582																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(556-558)cCa>cAa		mucin 7, secreted							327.0	265.0	286.0					4																	71347018		2203	4298	6501	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347018C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.557C>A	4.37:g.71347018C>A	ENSP00000302021:p.Pro186Gln					MUC7_ENST00000456088.1_Missense_Mutation_p.P186Q|MUC7_ENST00000304887.5_Missense_Mutation_p.P186Q	p.P186Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	845	+			186			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.557C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.509	0.462148	0.12342	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.50548	0.74;0.74;0.74	1.37	-1.58	0.08479	.	.	.	.	.	T	0.42921	0.1224	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.34976	-0.9807	8	.	.	.	.	6.2803	0.21003	0.0:0.5482:0.0:0.4518	.	186	Q8TAX7	MUC7_HUMAN	Q	186	ENSP00000407422:P186Q;ENSP00000400585:P186Q;ENSP00000302021:P186Q	.	P	+	2	0	MUC7	71381607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.705000	0.00821	-0.652000	0.05408	-0.136000	0.14681	CCA		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	837	1	0	8.12818e-05	1	8.32971e-05	6	837				
NABP2	79035	broad.mit.edu	37	12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:56622875T>C	ENST00000380198.2	+	6	1012	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P|SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.S172P			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	172	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCATACTCCCTCCCACCCACC	0.597																																						ENST00000380198.2																			0											c.(514-516)Tcc>Ccc		nucleic acid binding protein 2							22.0	25.0	24.0					12																	56622875		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622875T>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.514T>C	12.37:g.56622875T>C	ENSP00000369545:p.Ser172Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P	p.S172P							6	1012	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.514T>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.137846	0.21123	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.30448	1.53;1.53;1.53	5.17	-1.86	0.07760	.	0.651280	0.14048	N	0.344943	T	0.12050	0.0293	N	0.15975	0.35	0.21802	N	0.99954	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	.	.	.	-13.4254	2.1112	0.03703	0.1502:0.3954:0.155:0.2994	.	172	Q9BQ15	SOSB1_HUMAN	P	172	ENSP00000267023:S172P;ENSP00000369545:S172P;ENSP00000368862:S172P	.	S	+	1	0	OBFC2B	54909142	0.001000	0.12720	0.094000	0.20943	0.304000	0.27724	-0.479000	0.06567	-0.156000	0.11079	-0.313000	0.08912	TCC		0.597	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		8	131	0	0	0	1	0	8	131				
SGK223	157285	broad.mit.edu	37	8	8175797	8175797	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:8175797G>A	ENST00000520004.1	-	6	4352	c.4088C>T	c.(4087-4089)gCg>gTg	p.A1363V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1363V			Q86YV5	SG223_HUMAN		1367							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGCCTTCTCCGCAAACTTCAT	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4087-4089)gCg>gTg									92.0	108.0	103.0					8																	8175797		2152	4236	6388	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175797G>A																												ENST00000520004.1:c.4088C>T	8.37:g.8175797G>A	ENSP00000428054:p.Ala1363Val					SGK223_ENST00000330777.4_Missense_Mutation_p.A1363V	p.A1363V			Q86YV5	SG223_HUMAN			6	4352	-			1363					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4088C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070835	0.93950	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.16743	2.32;2.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23833	-1.0177	10	0.72032	D	0.01	.	18.5141	0.90930	0.0:0.0:1.0:0.0	.	1363	Q86YV5	SG223_HUMAN	V	1363	ENSP00000330930:A1363V;ENSP00000428054:A1363V	ENSP00000330930:A1363V	A	-	2	0	AC068353.1	8213207	1.000000	0.71417	0.814000	0.32528	0.985000	0.73830	9.764000	0.98949	2.701000	0.92244	0.462000	0.41574	GCG		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			6	895	0	0	0	1	0	6	895				
ADRM1	11047	broad.mit.edu	37	20	60883800	60883800	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883800G>T	ENST00000253003.2	+	10	1253	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	403	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGAAGAGGAGGACATGAGCCT	0.562																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1207-1209)Gac>Tac		adhesion regulating molecule 1							160.0	122.0	135.0					20																	60883800		2190	4294	6484	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883800G>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1207G>T	20.37:g.60883800G>T	ENSP00000253003:p.Asp403Tyr					LAMA5_ENST00000492698.1_Intron	p.D403Y	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1253	+	Breast(26;7.76e-09)		403			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1207G>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579440	0.86645	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	P	0.60415	0.874	T	0.80518	-0.1347	9	0.72032	D	0.01	-31.7805	16.5253	0.84329	0.0:0.131:0.869:0.0	.	403	Q16186	ADRM1_HUMAN	Y	403	.	ENSP00000253003:D403Y	D	+	1	0	ADRM1	60317195	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	9.313000	0.96297	1.414000	0.47017	0.561000	0.74099	GAC		0.562	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			32	159	1	0	3.1745e-13	1	3.42294e-13	32	159				
TLR9	54106	broad.mit.edu	37	3	52257640	52257640	+	Missense_Mutation	SNP	C	C	T	rs147300053		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52257640C>T	ENST00000360658.2	-	2	1325	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TLR9_ENST00000597542.1_Missense_Mutation_p.R255H|TLR9_ENST00000494383.1_Silent_p.P384P	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	231					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|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 JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|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 production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTTGACGATGCGGTTGTAGGA	0.617																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(763-765)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)	C	HIS/ARG	0,4406		0,0,2203	40.0	30.0	33.0		692	-8.8	0.2	3	dbSNP_134	33	3,8597	2.2+/-6.3	0,3,4297	no	missense	TLR9	NM_017442.3	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	231/1033	52257640	3,13003	2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 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 JUN kinase activity|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|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257640C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.692G>A	3.37:g.52257640C>T	ENSP00000353874:p.Arg231His					TLR9_ENST00000494383.1_Silent_p.P384P|TLR9_ENST00000360658.2_Missense_Mutation_p.R231H	p.R255H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1721	-			231					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.764G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907217	0.17833	0.0	3.49E-4	ENSG00000239732	ENST00000360658	T	0.58210	0.35	5.38	-8.75	0.00834	.	0.955010	0.08543	N	0.930202	T	0.34337	0.0894	L	0.35288	1.05	0.09310	N	0.999997	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.25106	T	0.35	.	12.031	0.53397	0.1005:0.6148:0.0:0.2847	.	328;231	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	231	ENSP00000353874:R231H	ENSP00000353874:R231H	R	-	2	0	TLR9	52232680	0.003000	0.15002	0.245000	0.24217	0.163000	0.22366	-0.725000	0.04942	-1.469000	0.01890	-0.982000	0.02568	CGC		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	187	0	0	0	1	0	4	187				
CUBN	8029	broad.mit.edu	37	10	16919089	16919089	+	Silent	SNP	G	G	A	rs370685424		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:16919089G>A	ENST00000377833.4	-	57	8978	c.8913C>T	c.(8911-8913)tcC>tcT	p.S2971S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2971	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTCACAGCGGAACGAGCTG	0.453													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8911-8913)tcC>tcT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	A		3,4403	823.8+/-416.5	0,3,2200	62.0	49.0	53.0		8913	-11.8	0.0	10		53	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		2971/3624	16919089	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16919089G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8913C>T	10.37:g.16919089G>A							p.S2971S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			57	8978	-			2971			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8913C>T	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	152	0	0	0	1	0	4	152				
NCAM1	4684	broad.mit.edu	37	11	113078690	113078690	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:113078690C>T	ENST00000533760.1	+	7	1127	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCAM1_ENST00000316851.7_Silent_p.G284G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G293G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	294	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACAAGGCTGGCGAGCAGGATG	0.532																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(850-852)ggC>ggT		neural cell adhesion molecule 1							56.0	56.0	56.0					11																	113078690		2067	4214	6281	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078690C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.528C>T	11.37:g.113078690C>T						NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000533760.1_Silent_p.G176G|NCAM1_ENST00000397957.4_3'UTR	p.G284G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	852	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	294			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.852C>T																																																																																					0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		18	72	0	0	0	1	0	18	72				
TGM4	7047	broad.mit.edu	37	3	44935102	44935102	+	Missense_Mutation	SNP	G	G	A	rs147559877		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:44935102G>A	ENST00000296125.4	+	5	532	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	155					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGGACGAGCGCAAAGAGTAC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.0					ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(463-465)cGc>cAc		transglutaminase 4	L-Glutamine(DB00130)	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	129.0	115.0	120.0		464	-1.3	0.0	3	dbSNP_134	120	0,8600		0,0,4300	no	missense	TGM4	NM_003241.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	155/685	44935102	2,13004	2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44935102G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.464G>A	3.37:g.44935102G>A	ENSP00000296125:p.Arg155His						p.R155H	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	5	532	+			155					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.464G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455059	0.43634	4.54E-4	0.0	ENSG00000163810	ENST00000296125	D	0.92099	-2.97	2.32	-1.33	0.09172	.	0.000000	0.40818	U	0.001008	D	0.95056	0.8399	M	0.90870	3.155	0.09310	N	0.999991	D	0.89917	1.0	D	0.79784	0.993	D	0.88191	0.2877	10	0.66056	D	0.02	.	4.1154	0.10079	0.3177:0.0:0.5237:0.1586	.	155	P49221	TGM4_HUMAN	H	155	ENSP00000296125:R155H	ENSP00000296125:R155H	R	+	2	0	TGM4	44910106	0.694000	0.27738	0.000000	0.03702	0.008000	0.06430	1.522000	0.35921	-0.584000	0.05913	-0.518000	0.04402	CGC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		5	376	0	0	0	1	0	5	376				
CTNND1	1500	broad.mit.edu	37	11	57559074	57559074	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57559074G>A	ENST00000399050.4	+	3	660	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000524630.1_Missense_Mutation_p.E42K|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532463.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	42					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGCGCAGCTGGAACGCGTCCG	0.637																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(124-126)Gaa>Aaa		catenin (cadherin-associated protein), delta 1							40.0	45.0	44.0					11																	57559074		2089	4199	6288	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57559074G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.124G>A	11.37:g.57559074G>A	ENSP00000382004:p.Glu42Lys					CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Intron|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000529873.1_5'UTR	p.E42K			O60716	CTND1_HUMAN			3	637	+		all_epithelial(135;0.155)	42					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.124G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405970	0.83230	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000428599;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	.	0.176390	0.50627	D	0.000116	T	0.35913	0.0948	L	0.59436	1.845	0.36574	D	0.873151	P;P;P;P;P;P	0.42248	0.774;0.774;0.665;0.774;0.762;0.665	B;B;B;B;B;B	0.39379	0.236;0.236;0.119;0.236;0.298;0.119	T	0.47484	-0.9114	10	0.72032	D	0.01	-9.2286	18.7943	0.91988	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42	O60716-3;O60716-2;O60716;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.	K	42	ENSP00000436543:E42K;ENSP00000434808:E42K;ENSP00000381996:E42K;ENSP00000353902:E42K;ENSP00000354907:E42K;ENSP00000382004:E42K;ENSP00000354785:E42K;ENSP00000354823:E42K;ENSP00000351527:E42K;ENSP00000413586:E42K;ENSP00000432041:E42K	ENSP00000351527:E42K	E	+	1	0	CTNND1	57315650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.153000	0.89640	2.809000	0.96659	0.655000	0.94253	GAA		0.637	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		37	198	0	0	0	1	0	37	198				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	65	1	0	1.024e-07	1	1.07153e-07	5	65				
KRT14	3861	broad.mit.edu	37	17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T	rs375620492		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(844-846)cGc>cAc		keratin 14		C	HIS/ARG	0,4406		0,0,2203	183.0	153.0	163.0		845	3.0	1.0	17		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT14	NM_000526.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	282/473	39740094	1,13005	2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740094C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.845G>A	17.37:g.39740094C>T	ENSP00000167586:p.Arg282His						p.R282H	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	931	-		Breast(137;0.000307)	282			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.845G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195700	0.58126	0.0	1.16E-4	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.04	3.04	0.35103	Prefoldin (1);Filament (1);	0.000000	0.49916	D	0.000135	D	0.83649	0.5300	M	0.74546	2.27	0.29322	N	0.867318	D	0.76494	0.999	D	0.73708	0.981	T	0.76589	-0.2904	10	0.62326	D	0.03	.	4.864	0.13598	0.156:0.612:0.0:0.2321	.	282	P02533	K1C14_HUMAN	H	282	ENSP00000167586:R282H	ENSP00000167586:R282H	R	-	2	0	KRT14	36993620	0.000000	0.05858	0.997000	0.53966	0.504000	0.33889	0.450000	0.21762	1.258000	0.44101	-0.119000	0.15052	CGC		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	763	0	0	0	1	0	6	763				
ECT2L	345930	broad.mit.edu	37	6	139206663	139206663	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:139206663A>C	ENST00000423192.1	+	16	2210	c.2049A>C	c.(2047-2049)gcA>gcC	p.A683A	ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	683	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGATACCAGCATTCCGAACTT	0.443			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2047-2049)gcA>gcC		epithelial cell transforming sequence 2 oncogene-like							110.0	104.0	106.0					6																	139206663		1918	4121	6039	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139206663A>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2049A>C	6.37:g.139206663A>C						ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron	p.A683A			Q008S8	ECT2L_HUMAN			16	2210	+			683			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.2049A>C	CCDS43508.1																																																																																				0.443	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		6	376	0	0	0	1	0	6	376				
OR11L1	391189	broad.mit.edu	37	1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	205						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A205S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACAGCACGGCAATTGACAGG	0.478																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.A205S(1)	lung(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(613-615)Gcc>Tcc		olfactory receptor, family 11, subfamily L, member 1							90.0	92.0	91.0					1																	248004586		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004586C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.613G>T	1.37:g.248004586C>A	ENSP00000348033:p.Ala205Ser						p.A205S	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	668	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		205						Missense_Mutation	SNP	ENST00000355784.2	37	c.613G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399533	0.25291	.	.	ENSG00000197591	ENST00000355784	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004118	T	0.25494	0.0620	N	0.17312	0.475	0.09310	N	1	P	0.42993	0.797	P	0.47346	0.544	T	0.04495	-1.0947	10	0.46703	T	0.11	.	5.0642	0.14574	0.0:0.5142:0.2962:0.1896	.	205	Q8NGX0	O11L1_HUMAN	S	205	ENSP00000348033:A205S	ENSP00000348033:A205S	A	-	1	0	OR11L1	246071209	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	-0.791000	0.04599	1.145000	0.42336	0.543000	0.68304	GCC		0.478	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		18	429	1	0	9.16793e-09	1	9.75814e-09	18	429				
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(157-159)gGc>gAc		leucine zipper, putative tumor suppressor 1							94.0	88.0	90.0					8																	20112535		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112535C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.158G>A	8.37:g.20112535C>T	ENSP00000370981:p.Gly53Asp					LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D	p.G53D			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	515	-			53					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.158G>A	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		5	526	0	0	0	1	0	5	526				
ATG2A	23130	broad.mit.edu	37	11	64666137	64666137	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:64666137G>A	ENST00000377264.3	-	32	4754	c.4642C>T	c.(4642-4644)Cgg>Tgg	p.R1548W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R1550W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1548					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCGGCATCCGCTCACTCGTG	0.607																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4648-4650)Cgg>Tgg		autophagy related 2A							92.0	67.0	75.0					11																	64666137		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64666137G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4642C>T	11.37:g.64666137G>A	ENSP00000366475:p.Arg1548Trp					ATG2A_ENST00000377264.3_Missense_Mutation_p.R1548W	p.R1550W			Q2TAZ0	ATG2A_HUMAN			32	4762	-			1548					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4648C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352957|4.352957	0.82132|0.82132	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07444	.|3.19;3.19	4.27|4.27	3.28|3.28	0.37604|0.37604	.|.	.|0.058658	.|0.64402	.|D	.|0.000003	T|T	0.17408|0.17408	0.0418|0.0418	L|L	0.47716|0.47716	1.5|1.5	0.38104|0.38104	D|D	0.937356|0.937356	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.66084	.|0.874;0.941	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.66056	.|D	.|0.02	.|.	9.0664|9.0664	0.36467|0.36467	0.0:0.0:0.6774:0.3226|0.0:0.0:0.6774:0.3226	.|.	.|1548;1550	.|Q2TAZ0;Q2TAZ0-3	.|ATG2A_HUMAN;.	V|W	1351|1550;1548	.|ENSP00000410522:R1550W;ENSP00000366475:R1548W	.|ENSP00000366475:R1548W	A|R	-|-	2|1	0|2	ATG2A|ATG2A	64422713|64422713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	1.056000|1.056000	0.30480|0.30480	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.607	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		69	276	0	0	0	1	0	69	276				
ARID3A	1820	broad.mit.edu	37	19	964984	964984	+	Missense_Mutation	SNP	G	G	A	rs143163296		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:964984G>A	ENST00000263620.3	+	6	1429	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	368						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCACACGGCATGCTCTC	0.642																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1102-1104)Ggc>Agc		AT rich interactive domain 3A (BRIGHT-like)							66.0	63.0	64.0					19																	964984		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964984G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1102G>A	19.37:g.964984G>A	ENSP00000263620:p.Gly368Ser						p.G368S	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1429	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	368					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.1102G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.361726	0.01235	.	.	ENSG00000116017	ENST00000263620	T	0.35236	1.32	4.44	-8.01	0.01122	.	0.462369	0.25104	N	0.033107	T	0.12860	0.0312	N	0.11201	0.11	0.18873	N	0.999989	B	0.17268	0.021	B	0.17979	0.02	T	0.25950	-1.0117	10	0.02654	T	1	-4.007	14.1794	0.65564	0.6916:0.0:0.3084:0.0	.	368	Q99856	ARI3A_HUMAN	S	368	ENSP00000263620:G368S	ENSP00000263620:G368S	G	+	1	0	ARID3A	915984	0.000000	0.05858	0.160000	0.22671	0.037000	0.13140	-0.803000	0.04540	-1.691000	0.01430	-0.993000	0.02533	GGC		0.642	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		5	452	0	0	0	1	0	5	452				
PRRX2	51450	broad.mit.edu	37	9	132481624	132481624	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:132481624G>A	ENST00000372469.4	+	2	601	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	125					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GTGTTCGAGCGCACGCACTAC	0.701																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(373-375)cGc>cAc		paired related homeobox 2							20.0	21.0	21.0					9																	132481624		2184	4291	6475	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481624G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.374G>A	9.37:g.132481624G>A	ENSP00000361547:p.Arg125His						p.R125H	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			2	601	+		Ovarian(14;0.00556)	125					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.374G>A	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.387915|5.387915	0.95988|0.95988	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000557730|ENST00000372469	.|D	.|0.96334	.|-3.98	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97340|0.97340	0.9130|0.9130	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.98098|0.98098	1.0413|1.0413	5|10	.|0.87932	.|D	.|0	.|.	15.6697|15.6697	0.77264|0.77264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|125	.|Q99811	.|PRRX2_HUMAN	T|H	40|125	.|ENSP00000361547:R125H	.|ENSP00000361547:R125H	A|R	+|+	1|2	0|0	PRRX2|PRRX2	131521445|131521445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.471000|5.471000	0.66762|0.66762	2.187000|2.187000	0.69744|0.69744	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.701	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		4	57	0	0	0	1	0	4	57				
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.A163T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.A163T(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(487-489)Gca>Aca		UPF1 regulator of nonsense transcripts homolog (yeast)							89.0	88.0	88.0					19																	18960909		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960909G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.487G>A	19.37:g.18960909G>A	ENSP00000470142:p.Ala163Thr					UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			4	759	+			163			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		0.517	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	545	0	0	0	1	0	6	545				
RFPL1	5988	broad.mit.edu	37	22	29834846	29834846	+	Silent	SNP	C	C	T	rs61734572		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:29834846C>T	ENST00000354373.2	+	1	275	c.66C>T	c.(64-66)tgC>tgT	p.C22C	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	22							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCCCTTGTGCACTTTTCCCC	0.478																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(64-66)tgC>tgT		ret finger protein-like 1							104.0	100.0	102.0					22																	29834846		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29834846C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.66C>T	22.37:g.29834846C>T						RFPL1S_ENST00000461286.2_RNA	p.C22C	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	275	+			22					Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.66C>T	CCDS13857.2																																																																																				0.478	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		6	503	0	0	0	1	0	6	503				
ADA	100	broad.mit.edu	37	20	43257762	43257762	+	Silent	SNP	G	G	A	rs189751145	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43257762G>A	ENST00000372874.4	-	3	278	c.144C>T	c.(142-144)aaC>aaT	p.N48N	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Silent_p.N48N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	48					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCCAATGACGTTCAGCAGCC	0.592									Adenosine Deaminase Deficiency				G|||	3	0.000599042	0.0	0.0014	5008	,	,		19734	0.001		0.001	False		,,,				2504	0.0					ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(142-144)aaC>aaT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						156.0	103.0	121.0					20																	43257762		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43257762G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.144C>T	20.37:g.43257762G>A						ADA_ENST00000537820.1_Silent_p.N48N	p.N48N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	278	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	48					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.144C>T	CCDS13335.1																																																																																				0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		6	441	0	0	0	1	0	6	441				
CSF3R	1441	broad.mit.edu	37	1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T	rs186379741		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:36939177C>T	ENST00000373106.1	-	6	1079	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000373103.1_Missense_Mutation_p.V178M|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	178	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20168	0.0		0.0	False		,,,				2504	0.0					ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(532-534)Gtg>Atg		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						76.0	68.0	71.0					1																	36939177		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939177C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.532G>A	1.37:g.36939177C>T	ENSP00000362198:p.Val178Met					CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M	p.V178M	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			6	1079	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	178			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.532G>A	CCDS413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.097	0.573316	0.13623	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.22	-0.00103	0.14035	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.150820	0.06140	N	0.672141	T	0.21881	0.0527	L	0.31664	0.95	0.24342	N	0.99496	D;D;P;P	0.54047	0.964;0.958;0.929;0.723	B;B;B;B	0.36418	0.224;0.174;0.084;0.069	T	0.25606	-1.0127	10	0.34782	T	0.22	-5.3635	7.0679	0.25161	0.0:0.3842:0.0:0.6158	.	178;178;178;178	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	M	178	ENSP00000362198:V178M;ENSP00000362196:V178M;ENSP00000362195:V178M;ENSP00000355406:V178M;ENSP00000332180:V178M;ENSP00000401588:V178M;ENSP00000345013:V178M;ENSP00000397568:V178M	ENSP00000332180:V178M	V	-	1	0	CSF3R	36711764	0.188000	0.23250	0.026000	0.17262	0.003000	0.03518	0.000000	0.12993	0.159000	0.19401	-0.192000	0.12808	GTG		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		61	253	0	0	0	1	0	61	253				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	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.S188S(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				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			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		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(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.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>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.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S188S	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	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	707	0	0	0	1	0	9	707				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C							p.L354L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		10	719	0	0	0	1	0	10	719				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			0							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T								NR_003678.1						0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			7	327	0	0	0	1	0	7	327				
STON2	85439	broad.mit.edu	37	14	81743580	81743580	+	Missense_Mutation	SNP	G	G	A	rs201379766		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:81743580G>A	ENST00000267540.2	-	4	2275	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.T692M	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	692	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTGTGGCCGTCCTGAGTGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20808	0.0		0.0	False		,,,				2504	0.001					ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2074-2076)aCg>aTg		stonin 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	114.0	115.0		2075	6.1	1.0	14		115	0,8600		0,0,4300	yes	missense	STON2	NM_033104.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	692/906	81743580	1,13005	2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743580G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2075C>T	14.37:g.81743580G>A	ENSP00000267540:p.Thr692Met					STON2_ENST00000267540.2_Missense_Mutation_p.T692M	p.T692M	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2487	-			692			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2075C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572943	0.45798	2.27E-4	0.0	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19105	2.17;2.17	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.65498	2.005	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.27054	-1.0085	10	0.87932	D	0	-17.0297	14.7345	0.69406	0.0685:0.0:0.9315:0.0	.	692;692	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	692;704;692	ENSP00000450857:T692M;ENSP00000267540:T692M	ENSP00000267540:T692M	T	-	2	0	STON2	80813333	1.000000	0.71417	0.972000	0.41901	0.371000	0.29859	8.029000	0.88807	2.879000	0.98667	0.650000	0.86243	ACG		0.557	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		6	714	0	0	0	1	0	6	714				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	1242	0	0	0	1	0	7	1242				
ST6GAL1	6480	broad.mit.edu	37	3	186769122	186769122	+	Silent	SNP	G	G	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:186769122G>C	ENST00000169298.3	+	5	1367	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	231					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATTCGCCTGATGAACTCTC	0.453																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(691-693)ctG>ctC		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							107.0	95.0	99.0					3																	186769122		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186769122G>C	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.693G>C	3.37:g.186769122G>C						ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	5	1367	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		231					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.693G>C	CCDS3285.1																																																																																				0.453	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		26	267	0	0	0	1	0	26	267				
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		7	961	0	0	0	1	0	7	961				
LGMN	5641	broad.mit.edu	37	14	93199026	93199026	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:93199026C>T	ENST00000393218.2	-	3	443	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	36					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCATTTGAACCTGCCACGATC	0.443																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(106-108)Ggt>Agt		legumain							163.0	152.0	156.0					14																	93199026		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93199026C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.106G>A	14.37:g.93199026C>T	ENSP00000376911:p.Gly36Ser					LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S	p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	3	443	-		all_cancers(154;0.0706)	36					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.106G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832172	0.71258	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919;ENST00000554080;ENST00000553371	T;T;T;T;T;T;T;T;T	0.72942	0.48;0.4;0.52;0.4;0.51;0.38;0.38;-0.34;-0.7	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.996	D	0.90096	0.4181	10	0.62326	D	0.03	-23.6576	16.0812	0.81005	0.0:1.0:0.0:0.0	.	36;36;36	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	S	36;36;36;36;36;36;13;36;36;36;36;36;36	ENSP00000451861:G36S;ENSP00000334052:G36S;ENSP00000452572:G36S;ENSP00000376911:G36S;ENSP00000450854:G36S;ENSP00000450677:G36S;ENSP00000451916:G36S;ENSP00000452268:G36S;ENSP00000451797:G36S	ENSP00000262004:G36S	G	-	1	0	LGMN	92268779	1.000000	0.71417	0.146000	0.22360	0.387000	0.30353	6.348000	0.73009	2.086000	0.62901	0.313000	0.20887	GGT		0.443	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		8	981	0	0	0	1	0	8	981				
CREBBP	1387	broad.mit.edu	37	16	3801767	3801767	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3801767C>T	ENST00000262367.5	-	20	4548	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1247	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCACATTCTCGCCCTGGATC	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3739-3741)Gag>Aag		CREB binding protein							276.0	193.0	221.0					16																	3801767		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3801767C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3739G>A	16.37:g.3801767C>T	ENSP00000262367:p.Glu1247Lys					CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	p.E1247K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	20	4548	-		Ovarian(90;0.0266)	1247			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3739G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303906	0.60305	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83992	-1.79;-1.71	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.75539	0.3863	L	0.42487	1.325	0.53688	D	0.999978	P;P	0.44195	0.828;0.828	B;B	0.28991	0.097;0.097	T	0.78703	-0.2101	10	0.46703	T	0.11	-29.1663	19.3082	0.94173	0.0:1.0:0.0:0.0	.	1277;1247	Q4LE28;Q92793	.;CBP_HUMAN	K	1247;1277;1209	ENSP00000262367:E1247K;ENSP00000371502:E1209K	ENSP00000262367:E1247K	E	-	1	0	CREBBP	3741768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.577000	0.67444	2.539000	0.85634	0.655000	0.94253	GAG		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		50	202	0	0	0	1	0	50	202				
DDX47	51202	broad.mit.edu	37	12	12980302	12980302	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:12980302C>T	ENST00000358007.3	+	11	1251	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DDX47_ENST00000352940.4_Missense_Mutation_p.A361V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	410					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAAAGGTTTGCCCGAATGGTA	0.428																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1228-1230)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							223.0	220.0	221.0					12																	12980302		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12980302C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1229C>T	12.37:g.12980302C>T	ENSP00000350698:p.Ala410Val					DDX47_ENST00000352940.4_Missense_Mutation_p.A361V|RP11-59H1.3_ENST00000534843.1_3'UTR	p.A410V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	11	1251	+		Prostate(47;0.0526)	410					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.1229C>T	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628472	0.67015	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.28454	2.38;1.61	5.75	4.86	0.63082	.	0.055390	0.64402	D	0.000001	T	0.43299	0.1241	M	0.66378	2.025	0.80722	D	1	B;B	0.25850	0.115;0.136	B;B	0.41236	0.351;0.164	T	0.34378	-0.9831	10	0.35671	T	0.21	-11.3685	14.979	0.71299	0.0:0.9316:0.0:0.0684	.	361;410	G5E955;Q9H0S4	.;DDX47_HUMAN	V	361;410	ENSP00000319578:A361V;ENSP00000350698:A410V	ENSP00000319578:A361V	A	+	2	0	DDX47	12871569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.531000	0.81973	1.435000	0.47434	0.655000	0.94253	GCC		0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		6	934	0	0	0	1	0	6	934				
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105.0	102.0	103.0					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	8	555	0	0	0	1	0	8	555				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		11	311	0	0	0	1	0	11	311				
TUBB8P7	197331	broad.mit.edu	37	16	90162498	90162498	+	RNA	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:90162498C>T	ENST00000564451.1	+	0	1851				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TCACCGAGGCCGAGAGCAACA	0.542																																						ENST00000564451.1																			0																																																			0							g.chr16:90162498C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162498C>T						TUBB8P7_ENST00000567960.1_RNA								0	1851	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.542	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	547	0	0	0	1	0	5	547				
GORASP2	26003	broad.mit.edu	37	2	171818252	171818252	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:171818252A>C	ENST00000234160.4	+	8	1718	c.903A>C	c.(901-903)acA>acC	p.T301T	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	301	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAGCTACTACATTACCAGGTA	0.393																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(901-903)acA>acC		golgi reassembly stacking protein 2, 55kDa							231.0	195.0	207.0					2																	171818252		2203	4300	6503	SO:0001819	synonymous_variant	26003					Golgi membrane		g.chr2:171818252A>C		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.903A>C	2.37:g.171818252A>C						GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T	p.T301T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			8	1718	+			301			Pro-rich.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Silent	SNP	ENST00000234160.4	37	c.903A>C	CCDS33325.1																																																																																				0.393	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			107	469	0	0	0	1	0	107	469				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																0							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	507	0	0	0	1	0	5	507				
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428																																						ENST00000369415.4																			1	Substitution - coding silent(1)	p.C101C(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(301-303)tgC>tgT		Ras-related GTP binding D							158.0	174.0	169.0					6																	90097155		2203	4300	6503	SO:0001819	synonymous_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097155G>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.303C>T	6.37:g.90097155G>A						RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	p.C101C	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	579	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	101						Silent	SNP	ENST00000369415.4	37	c.303C>T	CCDS5022.1																																																																																				0.428	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		8	990	0	0	0	1	0	8	990				
ANKS1B	56899	broad.mit.edu	37	12	99640630	99640630	+	Missense_Mutation	SNP	C	C	T	rs375089730		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:99640630C>T	ENST00000547776.2	-	13	1768	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	590						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTCATCCTGTCGGGAGAGGTC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18588	0.0		0.001	False		,,,				2504	0.0					ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1768-1770)cGa>cAa		ankyrin repeat and sterile alpha motif domain containing 1B		C	GLN/ARG	0,3774		0,0,1887	124.0	119.0	120.0		1769	3.3	1.0	12		120	1,8193		0,1,4096	no	missense	ANKS1B	NM_152788.4	43	0,1,5983	TT,TC,CC		0.0122,0.0,0.0084	benign	590/1249	99640630	1,11967	1887	4097	5984	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640630C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1769G>A	12.37:g.99640630C>T	ENSP00000449629:p.Arg590Gln					ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q	p.R590Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1768	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	590					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1769G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	0.986	-0.695588	0.03279	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.58358	1.15;0.34;1.16;1.06	5.76	3.26	0.37387	.	0.838349	0.10666	N	0.648107	T	0.23289	0.0563	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11966	-1.0566	9	.	.	.	-5.1323	5.7192	0.17978	0.1489:0.0808:0.0:0.7703	.	556;170;590	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Q	590;170;590;169;556	ENSP00000449629:R590Q;ENSP00000448512:R170Q;ENSP00000331381:R590Q;ENSP00000449894:R556Q	.	R	-	2	0	ANKS1B	98164761	0.847000	0.29606	0.995000	0.50966	0.026000	0.11368	0.765000	0.26546	1.124000	0.41980	-0.238000	0.12139	CGA		0.468	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		157	677	0	0	0	1	0	157	677				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	932	0	0	0	1	0	6	932				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	260	0	0	0	1	0	7	260				
TTC17	55761	broad.mit.edu	37	11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2809-2811)gCc>gTc		tetratricopeptide repeat domain 17							121.0	112.0	115.0					11																	43471655		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43471655C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2810C>T	11.37:g.43471655C>T	ENSP00000039989:p.Ala937Val						p.A937V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			20	2824	+			937					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2810C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC		0.473	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		6	684	0	0	0	1	0	6	684				
MUC4	4585	broad.mit.edu	37	3	195517556	195517556	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195517556T>A	ENST00000463781.3	-	2	1354	c.895A>T	c.(895-897)Aca>Tca	p.T299S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T299S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	304					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATCAAATGTTACTAAGGCT	0.483																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(895-897)Aca>Tca		mucin 4, cell surface associated							185.0	173.0	176.0					3																	195517556		1997	4171	6168	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517556T>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.895A>T	3.37:g.195517556T>A	ENSP00000417498:p.Thr299Ser					MUC4_ENST00000475231.1_Missense_Mutation_p.T299S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.T299S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1354	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	304					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.895A>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.636	0.485876	0.12641	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.54071	0.59;0.62	3.57	-2.63	0.06133	.	.	.	.	.	T	0.33030	0.0849	L	0.47190	1.495	0.09310	N	1	B;B	0.32781	0.259;0.384	B;B	0.25759	0.063;0.048	T	0.20140	-1.0284	9	0.15066	T	0.55	.	4.0135	0.09632	0.4013:0.1048:0.0:0.4939	.	299;304	E7ESK3;Q99102	.;MUC4_HUMAN	S	299;299;273	ENSP00000417498:T299S;ENSP00000420243:T299S	ENSP00000376209:T273S	T	-	1	0	MUC4	197001951	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.781000	0.04648	-0.425000	0.07371	-0.416000	0.06073	ACA		0.483	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	459	0	0	0	1	0	7	459				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			0							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		15	101	0	0	0	1	0	15	101				
RNF17	56163	broad.mit.edu	37	13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4612-4614)Cgg>Tgg		ring finger protein 17							79.0	82.0	81.0					13																	25451163		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25451163C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4612C>T	13.37:g.25451163C>T	ENSP00000255324:p.Arg1538Trp					RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W	p.R1538W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4664	+		Lung SC(185;0.0225)|Breast(139;0.077)	1538			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4612C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149514	0.57151	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09911	2.93;2.93;2.93	5.66	2.7	0.31948	Tudor subgroup (1);Maternal tudor protein (1);	0.524360	0.17164	N	0.184547	T	0.15003	0.0362	L	0.29908	0.895	0.80722	D	1	D;D;B;D	0.76494	0.998;0.98;0.023;0.999	P;P;B;P	0.56916	0.663;0.72;0.004;0.809	T	0.03148	-1.1067	10	0.72032	D	0.01	-0.586	9.3923	0.38381	0.271:0.6531:0.0:0.0759	.	1534;548;1532;1538	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	W	1538;1496;548	ENSP00000255324:R1538W;ENSP00000371346:R1496W;ENSP00000344776:R548W	ENSP00000255324:R1538W	R	+	1	2	RNF17	24349163	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	1.157000	0.31724	1.384000	0.46424	0.555000	0.69702	CGG		0.403	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		6	560	0	0	0	1	0	6	560				
FIBCD1	84929	broad.mit.edu	37	9	133779512	133779512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:133779512C>T	ENST00000372338.4	-	7	1567	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	442	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTACTGCCAGCCGGTCCAGGA	0.637																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1324-1326)gGc>gAc		fibrinogen C domain containing 1							75.0	71.0	72.0					9																	133779512		2203	4300	6503	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779512C>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1325G>A	9.37:g.133779512C>T	ENSP00000361413:p.Gly442Asp					FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D	p.G442D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1567	-	all_hematologic(7;0.0028)		442			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.1325G>A	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702186	0.88924	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	D;D;D	0.82619	-1.63;-1.63;-1.63	4.66	4.66	0.58398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92390	0.5920	10	0.66056	D	0.02	.	16.1061	0.81223	0.0:1.0:0.0:0.0	.	442	Q8N539	FBCD1_HUMAN	D	442;442;284	ENSP00000414501:G442D;ENSP00000361413:G442D;ENSP00000361412:G284D	ENSP00000361412:G284D	G	-	2	0	FIBCD1	132769333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.967000	0.70403	2.138000	0.66242	0.455000	0.32223	GGC		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		5	413	0	0	0	1	0	5	413				
WDR90	197335	broad.mit.edu	37	16	703653	703653	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:703653C>T	ENST00000293879.4	+	12	1362	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	WDR90_ENST00000549091.1_Silent_p.H454H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	454										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCAATGCACGTTGTCTGCT	0.637																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1360-1362)caC>caT		WD repeat domain 90							54.0	60.0	58.0					16																	703653		2069	4192	6261	SO:0001819	synonymous_variant	197335							g.chr16:703653C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1362C>T	16.37:g.703653C>T						WDR90_ENST00000293879.4_Silent_p.H454H	p.H454H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			12	1454	+		Hepatocellular(780;0.0218)	454					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1362C>T	CCDS42092.1																																																																																				0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		68	252	0	0	0	1	0	68	252				
YLPM1	56252	broad.mit.edu	37	14	75230759	75230759	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:75230759G>A	ENST00000552421.1	+	1	691	c.567G>A	c.(565-567)ccG>ccA	p.P189P	YLPM1_ENST00000325680.7_Silent_p.P189P|YLPM1_ENST00000238571.3_Silent_p.P189P			P49750	YLPM1_HUMAN	YLP motif containing 1	189	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGCTCAGCCGTCCCCTTCGC	0.597																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(565-567)ccG>ccA		YLP motif containing 1							69.0	77.0	74.0					14																	75230759		2073	4196	6269	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230759G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.567G>A	14.37:g.75230759G>A						YLPM1_ENST00000238571.3_Silent_p.P189P|YLPM1_ENST00000552421.1_Silent_p.P189P	p.P189P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	691	+			32			Pro-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.567G>A																																																																																					0.597	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		5	461	0	0	0	1	0	5	461				
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:114270018G>A	ENST00000393494.2	+	5	834	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393500.3_Silent_p.Q110Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)caG>caA		forkhead box P2							48.0	44.0	45.0					7																	114270018		2197	4288	6485	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270018G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.555G>A	7.37:g.114270018G>A						FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q	p.Q110Q			O15409	FOXP2_HUMAN			11	1150	+			185			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.330G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	347	0	0	0	1	0	5	347				
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	78					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(619-621)gCc>gTc		dual specificity phosphatase 13							205.0	181.0	189.0					10																	76855494		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855494G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.233C>T	10.37:g.76855494G>A	ENSP00000444580:p.Ala78Val					DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372702.3_3'UTR	p.A207V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1162	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		70					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.620C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		0.577	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			6	747	0	0	0	1	0	6	747				
RNF43	54894	broad.mit.edu	37	17	56448270	56448270	+	Splice_Site	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGAGTCTACCTTGCTAGC	0.582																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.e2+1		ring finger protein 43							53.0	49.0	51.0					17																	56448270		2203	4300	6503	SO:0001630	splice_region_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448270A>G		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.375+1T>C	17.37:g.56448270A>G						RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA				Q68DV7	RNF43_HUMAN			2	2331	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Splice_Site	SNP	ENST00000584437.1	37		CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384458	0.82792	.	.	ENSG00000108375	ENST00000407977	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6985	0.69139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF43	53803269	1.000000	0.71417	0.997000	0.53966	0.837000	0.47467	5.913000	0.69957	2.066000	0.61787	0.533000	0.62120	.		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	Intron	116	245	0	0	0	1	0	116	245				
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16878	0.0		0.002	False		,,,				2504	0.0					ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(652-654)gCg>gTg		chromosome 20 open reading frame 195		C	VAL/ALA	0,4406		0,0,2203	93.0	98.0	96.0		653	3.2	1.0	20	dbSNP_132	96	6,8592	5.0+/-18.6	0,6,4293	yes	missense	C20orf195	NM_024059.2	64	0,6,6496	TT,TC,CC		0.0698,0.0,0.0461	benign	218/319	62187669	6,12998	2203	4299	6502	SO:0001583	missense	79025							g.chr20:62187669C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.653C>T	20.37:g.62187669C>T	ENSP00000359116:p.Ala218Val					C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	745	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		218						Missense_Mutation	SNP	ENST00000370098.3	37	c.653C>T	CCDS13526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.207	-0.381718	0.04966	0.0	6.98E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	3.22	0.36961	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.731967	0.11933	N	0.515501	T	0.13030	0.0316	N	0.02539	-0.55	0.24278	N	0.995215	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.02654	T	1	-20.5053	9.1521	0.36969	0.0:0.1496:0.0:0.8504	.	218	Q9BVV2	CT195_HUMAN	V	218	.	ENSP00000359115:A218V	A	+	2	0	C20orf195	61658113	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	2.401000	0.44513	0.393000	0.25203	-0.302000	0.09304	GCG		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		185	906	0	0	0	1	0	185	906				
ODC1	4953	broad.mit.edu	37	2	10583672	10583672	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:10583672C>T	ENST00000234111.4	-	7	1120	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ODC1_ENST00000405333.1_Missense_Mutation_p.D204N|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	204					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GTCTCAGGATCGGTACAGCCG	0.478																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(610-612)Gat>Aat		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						77.0	80.0	79.0					2																	10583672		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10583672C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.610G>A	2.37:g.10583672C>T	ENSP00000234111:p.Asp204Asn					ODC1_ENST00000405333.1_Missense_Mutation_p.D204N	p.D204N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	7	1120	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		204					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.610G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174909	0.78564	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.52754	0.65;0.65	5.79	4.88	0.63580	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46512	-0.9186	10	0.51188	T	0.08	.	16.9563	0.86260	0.0:0.873:0.127:0.0	.	204	P11926	DCOR_HUMAN	N	204;204;75	ENSP00000234111:D204N;ENSP00000385333:D204N	ENSP00000234111:D204N	D	-	1	0	ODC1	10501123	1.000000	0.71417	0.912000	0.35992	0.934000	0.57294	4.734000	0.62043	2.746000	0.94184	0.655000	0.94253	GAT		0.478	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			83	464	0	0	0	1	0	83	464				
SYT12	91683	broad.mit.edu	37	11	66807334	66807334	+	Missense_Mutation	SNP	G	G	A	rs34985365		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66807334G>A	ENST00000393946.2	+	7	1443	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	94						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCACCCAGCCGCAAAGGCAGT	0.637																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(280-282)cGc>cAc		synaptotagmin XII							78.0	83.0	81.0					11																	66807334		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807334G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.281G>A	11.37:g.66807334G>A	ENSP00000377520:p.Arg94His					SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H	p.R94H			Q8IV01	SYT12_HUMAN			7	1443	+			94						Missense_Mutation	SNP	ENST00000393946.2	37	c.281G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840495	0.71488	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.14391	2.51;2.51;2.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.00787	-1.1566	10	0.52906	T	0.07	.	13.8906	0.63736	0.0:0.0:1.0:0.0	rs34985365	94	Q8IV01	SYT12_HUMAN	H	94	ENSP00000377520:R94H;ENSP00000431400:R94H;ENSP00000435316:R94H	ENSP00000377520:R94H	R	+	2	0	SYT12	66563910	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	9.228000	0.95250	2.655000	0.90218	0.462000	0.41574	CGC		0.637	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		6	776	0	0	0	1	0	6	776				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_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		9	294	0	0	0	1	0	9	294				
SYNPO	11346	broad.mit.edu	37	5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2503-2505)Gcc>Acc		synaptopodin							57.0	65.0	62.0					5																	150029608		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029608G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2503G>A	5.37:g.150029608G>A	ENSP00000377789:p.Ala835Thr					SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T	p.A835T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2877	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	835			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2503G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372055	0.42003	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24723	1.84;1.84;1.85	5.3	4.37	0.52481	.	0.271361	0.26450	N	0.024306	T	0.33265	0.0857	L	0.51422	1.61	0.29821	N	0.830848	D;D	0.65815	0.994;0.995	P;P	0.56278	0.795;0.748	T	0.09707	-1.0662	10	0.28530	T	0.3	-21.581	8.7709	0.34731	0.0:0.2979:0.5656:0.1365	.	591;835	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	T	835;835;591;591	ENSP00000377789:A835T;ENSP00000428378:A835T;ENSP00000429268:A591T	ENSP00000302139:A591T	A	+	1	0	SYNPO	150009801	0.986000	0.35501	0.939000	0.37840	0.469000	0.32828	0.835000	0.27531	2.480000	0.83734	0.462000	0.41574	GCC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	694	0	0	0	1	0	6	694				
ANGPTL2	23452	broad.mit.edu	37	9	129854112	129854112	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:129854112G>A	ENST00000373425.3	-	4	1736	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	373	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.S373S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTTTGCGGCCGGACCAGTCCT	0.552																																						ENST00000373425.3																			1	Substitution - coding silent(1)	p.S373S(1)	urinary_tract(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1117-1119)tcC>tcT		angiopoietin-like 2							191.0	192.0	192.0					9																	129854112		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854112G>A	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1119C>T	9.37:g.129854112G>A						RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S	p.S373S	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1736	-			373			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.1119C>T	CCDS6868.1																																																																																				0.552	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		8	1451	0	0	0	1	0	8	1451				
CDCP1	64866	broad.mit.edu	37	3	45153640	45153640	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:45153640T>C	ENST00000296129.1	-	3	724	c.590A>G	c.(589-591)cAc>cGc	p.H197R	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	197						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCATGGGAGGTGTAAGGCCAT	0.522																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(589-591)cAc>cGc		CUB domain containing protein 1							166.0	158.0	161.0					3																	45153640		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153640T>C	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.590A>G	3.37:g.45153640T>C	ENSP00000296129:p.His197Arg					CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	724	-			197					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.590A>G	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419653	0.42918	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.41065	1.92;1.01	5.42	4.25	0.50352	.	0.712205	0.14693	N	0.304050	T	0.41050	0.1142	L	0.54323	1.7	0.27687	N	0.946243	B;B	0.30439	0.279;0.279	B;B	0.31101	0.124;0.124	T	0.34950	-0.9808	10	0.59425	D	0.04	.	12.6997	0.57024	0.0:0.0:0.1375:0.8625	.	197;197	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	R	197	ENSP00000296129:H197R;ENSP00000399342:H197R	ENSP00000296129:H197R	H	-	2	0	CDCP1	45128644	0.981000	0.34729	0.994000	0.49952	0.773000	0.43773	2.658000	0.46733	0.872000	0.35775	0.460000	0.39030	CAC		0.522	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		7	492	0	0	0	1	0	7	492				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	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.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	204	0	0	0	1	0	4	204				
VGLL3	389136	broad.mit.edu	37	3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A	rs368641887	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCCTGGCCGCATGCACTGA	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0031					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(805-807)gCg>gTg		vestigial like 3 (Drosophila)		G	VAL/ALA	0,4276		0,0,2138	69.0	70.0	70.0		806	5.7	0.5	3		70	1,8499		0,1,4249	no	missense	VGLL3	NM_016206.2	64	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	269/327	87017871	1,12775	2138	4250	6388	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017871G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.806C>T	3.37:g.87017871G>A	ENSP00000381436:p.Ala269Val					VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	p.A269V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1169	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	269						Missense_Mutation	SNP	ENST00000398399.2	37	c.806C>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945134	0.73672	0.0	1.18E-4	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52754	0.82;0.65	5.71	5.71	0.89125	.	0.486738	0.20579	N	0.089580	T	0.44953	0.1318	L	0.54323	1.7	0.47949	D	0.99955	P	0.45428	0.858	B	0.35655	0.207	T	0.48917	-0.8992	10	0.45353	T	0.12	-0.046	19.446	0.94847	0.0:0.0:1.0:0.0	.	269	A8MV65	VGLL3_HUMAN	V	269	ENSP00000381436:A269V;ENSP00000373199:A269V	ENSP00000373199:A269V	A	-	2	0	VGLL3	87100561	0.956000	0.32656	0.475000	0.27278	0.820000	0.46376	6.223000	0.72257	2.709000	0.92574	0.561000	0.74099	GCG		0.572	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		4	214	0	0	0	1	0	4	214				
C16orf71	146562	broad.mit.edu	37	16	4787893	4787893	+	Silent	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:4787893C>A	ENST00000299320.5	+	3	700	c.222C>A	c.(220-222)gcC>gcA	p.A74A	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	74										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGATCCTGCCGATGGCGACA	0.572																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(220-222)gcC>gcA		chromosome 16 open reading frame 71							72.0	69.0	70.0					16																	4787893		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4787893C>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.222C>A	16.37:g.4787893C>A						RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A	p.A74A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	700	+			74					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.222C>A	CCDS10521.1																																																																																				0.572	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		5	345	1	0	1	1	1	5	345				
RASSF2	9770	broad.mit.edu	37	20	4771183	4771183	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:4771183G>A	ENST00000379400.3	-	7	646	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTGCCACGGCGACGCACCCCA	0.592																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(451-453)Cgc>Tgc		Ras association (RalGDS/AF-6) domain family member 2							101.0	76.0	84.0					20																	4771183		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771183G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.451C>T	20.37:g.4771183G>A	ENSP00000368710:p.Arg151Cys					RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C|RASSF2_ENST00000478553.1_5'UTR	p.R151C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	646	-			151					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.451C>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097623	0.76870	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16897	2.31;2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.45381	-0.9265	10	0.87932	D	0	.	12.5495	0.56218	0.0:0.0:0.8336:0.1664	.	151	P50749	RASF2_HUMAN	C	151	ENSP00000368710:R151C;ENSP00000368684:R151C	ENSP00000368684:R151C	R	-	1	0	RASSF2	4719183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.709000	0.61867	2.706000	0.92434	0.563000	0.77884	CGC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		54	154	0	0	0	1	0	54	154				
DAGLA	747	broad.mit.edu	37	11	61511762	61511762	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:61511762C>T	ENST00000257215.5	+	20	3046	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCTCTTTGCCGGCTCAGCC	0.672																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2929-2931)gCc>gTc		diacylglycerol lipase, alpha							55.0	64.0	61.0					11																	61511762		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511762C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2930C>T	11.37:g.61511762C>T	ENSP00000257215:p.Ala977Val						p.A977V	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3046	+			977					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2930C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357139	0.82243	.	.	ENSG00000134780	ENST00000257215	T	0.38240	1.15	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.27053	0.805	0.58432	D	0.999998	D	0.61697	0.99	P	0.57204	0.815	T	0.49331	-0.8951	10	0.87932	D	0	-22.923	16.5651	0.84577	0.0:1.0:0.0:0.0	.	977	Q9Y4D2	DGLA_HUMAN	V	977	ENSP00000257215:A977V	ENSP00000257215:A977V	A	+	2	0	DAGLA	61268338	1.000000	0.71417	0.979000	0.43373	0.966000	0.64601	5.512000	0.67030	1.979000	0.57680	0.462000	0.41574	GCC		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	507	0	0	0	1	0	5	507				
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	rs543366380	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5																			0											c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158.0	165.0	163.0					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val						p.A1197V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	969	0	0	0	1	0	7	969				
CREBZF	58487	broad.mit.edu	37	11	85375165	85375165	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:85375165T>C	ENST00000527447.1	-	1	981	c.755A>G	c.(754-756)gAg>gGg	p.E252G	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	252	Leucine-zipper. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTTGCCCAGCTCCCGATTCTC	0.622											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(754-756)gAg>gGg		CREB/ATF bZIP transcription factor							106.0	120.0	116.0					11																	85375165		2119	4236	6355	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375165T>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.755A>G	11.37:g.85375165T>C	ENSP00000433459:p.Glu252Gly		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	p.E252G	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	981	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	252			Leucine-zipper.		B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.755A>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226321	0.39300	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	T;T	0.56611	0.45;0.45	4.89	4.89	0.63831	Basic-leucine zipper (bZIP) transcription factor (1);bZIP transcription factor, bZIP-1 (1);	0.096735	0.41938	D	0.000795	T	0.37128	0.0992	L	0.34521	1.04	0.34338	D	0.688429	B	0.24651	0.108	B	0.22386	0.039	T	0.45659	-0.9246	9	.	.	.	-7.8605	7.6471	0.28327	0.0:0.1284:0.0:0.8716	.	252	Q9NS37	ZHANG_HUMAN	G	170;252	ENSP00000381342:E170G;ENSP00000433459:E252G	.	E	-	2	0	CREBZF	85052813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	2.058000	0.61347	0.533000	0.62120	GAG		0.622	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		244	1091	0	0	0	1	0	244	1091				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	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.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		9	266	0	0	0	1	0	9	266				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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			4	228	0	0	0	1	0	4	228				
ATP2A1	487	broad.mit.edu	37	16	28912189	28912189	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:28912189G>C	ENST00000357084.3	+	15	2319	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N|ATP2A1_ENST00000395503.4_Missense_Mutation_p.K684N	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	684					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCGCACAAGTCCAAGATTG	0.627																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2050-2052)aaG>aaC		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							76.0	69.0	71.0					16																	28912189		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28912189G>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2052G>C	16.37:g.28912189G>C	ENSP00000349595:p.Lys684Asn					ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.K684N	p.K684N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			15	2236	+			684					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2052G>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296086	0.81025	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99769	-6.7;-6.7;-6.7	5.4	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.99783	4.775	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96211	0.9153	10	0.87932	D	0	.	13.0151	0.58753	0.0797:0.0:0.9203:0.0	.	559;684;684	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	N	684;684;721;559	ENSP00000349595:K684N;ENSP00000378879:K684N;ENSP00000443101:K559N	ENSP00000349595:K684N	K	+	3	2	ATP2A1	28819690	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.048000	0.57390	1.278000	0.44430	0.555000	0.69702	AAG		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		4	386	0	0	0	1	0	4	386				
CCNT1	904	broad.mit.edu	37	12	49087735	49087735	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49087735G>A	ENST00000261900.3	-	9	1484	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	421					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTCTGGGCAGCATATGCATA	0.463																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1261-1263)gCt>gTt		cyclin T1							138.0	144.0	142.0					12																	49087735		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087735G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1262C>T	12.37:g.49087735G>A	ENSP00000261900:p.Ala421Val						p.A421V	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1484	-			421					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1262C>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619480	0.66787	.	.	ENSG00000129315	ENST00000261900	T	0.20598	2.06	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.49126	1.545	0.58432	D	0.999998	P	0.41929	0.765	B	0.37198	0.243	T	0.03112	-1.1071	10	0.62326	D	0.03	-14.5086	18.0305	0.89282	0.0:0.0:1.0:0.0	.	421	O60563	CCNT1_HUMAN	V	421	ENSP00000261900:A421V	ENSP00000261900:A421V	A	-	2	0	CCNT1	47374002	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.377000	0.73145	2.634000	0.89283	0.561000	0.74099	GCT		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		6	800	0	0	0	1	0	6	800				
MAP4K1	11184	broad.mit.edu	37	19	39100239	39100239	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:39100239A>G	ENST00000591517.1	-	13	1031	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000586296.1_Splice_Site_p.C335R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	335					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACTCACGACAGCAGTCTGCA	0.582																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1003-1005)Tgt>Cgt		mitogen-activated protein kinase kinase kinase kinase 1							52.0	55.0	54.0					19																	39100239		1970	4177	6147	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39100239A>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1003T>C	19.37:g.39100239A>G	ENSP00000465039:p.Cys335Arg					MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000586296.1_Splice_Site_p.C335_splice|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR	p.C335R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1031	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		335						Missense_Mutation	SNP	ENST00000591517.1	37	c.1003T>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	10.01	1.234740	0.22626	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.71341	-0.56	4.25	0.715	0.18186	Protein kinase-like domain (1);	0.941218	0.09011	N	0.861554	T	0.50769	0.1635	L	0.29908	0.895	0.29651	N	0.843925	B;B	0.21905	0.062;0.057	B;B	0.17979	0.02;0.014	T	0.40251	-0.9573	10	0.11794	T	0.64	.	3.8459	0.08934	0.4194:0.2013:0.0:0.3793	.	335;335	Q92918-2;Q92918	.;M4K1_HUMAN	R	335	ENSP00000380066:C335R	ENSP00000221409:C335R	C	-	1	0	MAP4K1	43792079	0.569000	0.26643	0.816000	0.32577	0.990000	0.78478	0.529000	0.23019	0.176000	0.19873	0.459000	0.35465	TGT		0.582	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		42	98	0	0	0	1	0	42	98				
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A	rs184758001		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677																																						ENST00000399682.1																			3	Substitution - Missense(3)	p.G112V(3)	skin(2)|NS(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(334-336)gGc>gTc		keratin associated protein 5-4							8.0	18.0	15.0					11																	1642989		664	1524	2188	SO:0001583	missense	387267					keratin filament		g.chr11:1642989C>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.335G>T	11.37:g.1642989C>A	ENSP00000382590:p.Gly112Val						p.G112V	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	379	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	112			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.335G>T		48	0.02197802197802198	13	0.026422764227642278	8	0.022099447513812154	6	0.01048951048951049	21	0.027704485488126648	C	2.407	-0.336332	0.05278	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00760	5.73	3.38	3.38	0.38709	.	.	.	.	.	T	0.01092	0.0036	M	0.76574	2.34	0.42892	D	0.994203	D	0.89917	1.0	D	0.80764	0.994	T	0.60342	-0.7282	9	0.32370	T	0.25	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	172	Q6L8H1	KRA54_HUMAN	V	112	ENSP00000382590:G112V	ENSP00000331603:G112V	G	-	2	0	KRTAP5-4	1599565	0.183000	0.23186	0.998000	0.56505	0.059000	0.15707	0.616000	0.24344	1.573000	0.49748	0.579000	0.79373	GGC		0.677	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		15	917	1	0	1.12875e-08	1	1.19628e-08	15	917				
NUMA1	4926	broad.mit.edu	37	11	71724163	71724163	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:71724163C>T	ENST00000393695.3	-	15	4717	c.4386G>A	c.(4384-4386)cgG>cgA	p.R1462R	NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGAAACTGCCGGCCAAGGT	0.622			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4384-4386)cgG>cgA		nuclear mitotic apparatus protein 1							93.0	97.0	95.0					11																	71724163		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724163C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4386G>A	11.37:g.71724163C>T						NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron	p.R1462R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4717	-			1462						Silent	SNP	ENST00000393695.3	37	c.4386G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466673	0.12402	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.14	4.23	0.50019	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	4	.	.	.	.	8.995	0.36048	0.0:0.7729:0.1485:0.0786	.	.	.	.	D	307	.	.	G	-	2	0	NUMA1	71401811	0.917000	0.31117	1.000000	0.80357	0.933000	0.57130	0.333000	0.19768	1.395000	0.46643	0.655000	0.94253	GGC		0.622	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	902	0	0	0	1	0	8	902				
PEPD	5184	broad.mit.edu	37	19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33991872G>A	ENST00000244137.7	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Missense_Mutation_p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	122					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.A122V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GTCGTCCACGGCATACTTCTC	0.557																																						ENST00000244137.6																			1	Substitution - Missense(1)	p.A122V(1)	lung(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(364-366)gCc>gTc		peptidase D							137.0	144.0	142.0					19																	33991872		2042	4206	6248	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33991872G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.365C>T	19.37:g.33991872G>A	ENSP00000244137:p.Ala122Val					PEPD_ENST00000397032.4_Missense_Mutation_p.A122V|PEPD_ENST00000436370.3_Intron	p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			4	398	-	Esophageal squamous(110;0.137)		122					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.365C>T	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068639	0.36470	.	.	ENSG00000124299	ENST00000244137;ENST00000397032	T;T	0.77098	-1.07;-1.07	5.39	5.39	0.77823	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.148969	0.64402	D	0.000010	T	0.74427	0.3715	L	0.58925	1.835	0.80722	D	1	B;B	0.17038	0.02;0.017	B;B	0.19666	0.026;0.009	T	0.69450	-0.5142	10	0.32370	T	0.25	-26.8327	14.6656	0.68904	0.0:0.0:1.0:0.0	.	122;122	A8MX47;P12955	.;PEPD_HUMAN	V	122	ENSP00000244137:A122V;ENSP00000380226:A122V	ENSP00000244137:A122V	A	-	2	0	PEPD	38683712	1.000000	0.71417	0.503000	0.27626	0.454000	0.32378	5.746000	0.68681	2.510000	0.84645	0.462000	0.41574	GCC		0.557	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		6	680	0	0	0	1	0	6	680				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	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.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		25	250	0	0	0	1	0	25	250				
GPAT2	150763	broad.mit.edu	37	2	96690307	96690307	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96690307G>A	ENST00000434632.1	-	16	1996	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	513					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						ACGTGCGCCCGCAGCAGGCTC	0.642																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1537-1539)Cgg>Tgg		glycerol-3-phosphate acyltransferase 2, mitochondrial							45.0	52.0	50.0					2																	96690307		2091	4225	6316	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690307G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1537C>T	2.37:g.96690307G>A	ENSP00000389395:p.Arg513Trp					GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W	p.R513W			Q6NUI2	GPAT2_HUMAN			16	1996	-			513					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1537C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.588560	0.46110	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77877	-1.12;-1.12;-0.13;-1.13	4.63	3.66	0.41972	.	0.754991	0.12365	N	0.475318	T	0.81730	0.4884	L	0.43152	1.355	0.32553	N	0.532168	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;1.0	D;P;P;P;D	0.66084	0.913;0.809;0.847;0.721;0.941	T	0.81138	-0.1069	10	0.66056	D	0.02	-5.7184	9.2268	0.37412	0.0:0.0:0.6973:0.3027	.	442;513;519;513;442	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	W	513;513;442;513	ENSP00000352547:R513W;ENSP00000389395:R513W;ENSP00000393770:R442W;ENSP00000366341:R513W	ENSP00000352547:R513W	R	-	1	2	GPAT2	96054034	0.001000	0.12720	0.992000	0.48379	0.233000	0.25261	0.401000	0.20948	0.964000	0.38108	0.637000	0.83480	CGG		0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	439	0	0	0	1	0	5	439				
SHANK2	22941	broad.mit.edu	37	11	70332955	70332955	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:70332955G>A	ENST00000423696.2	-	15	2342	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1149V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	769					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGGCGTGGCACTCGGCAT	0.687																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3445-3447)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							31.0	36.0	34.0					11																	70332955		2200	4289	6489	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332955G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2306C>T	11.37:g.70332955G>A	ENSP00000394536:p.Ala769Val					SHANK2_ENST00000423696.2_Missense_Mutation_p.A769V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V	p.A1149V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3445	-			769					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3446C>T		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.403109	0.00195	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.93	4.01	0.46588	.	0.553055	0.21123	N	0.079793	T	0.27489	0.0675	L	0.27053	0.805	0.28455	N	0.916148	B;B;B	0.14012	0.0;0.003;0.009	B;B;B	0.13407	0.004;0.006;0.009	T	0.15378	-1.0439	10	0.22109	T	0.4	.	9.1801	0.37136	0.1649:0.0:0.8351:0.0	.	769;1148;553	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	553;552;427;1149;769;787;772	ENSP00000399423:A553V;ENSP00000386491:A552V;ENSP00000402944:A427V;ENSP00000345193:A1149V;ENSP00000394536:A769V;ENSP00000294018:A772V	ENSP00000294018:A772V	A	-	2	0	SHANK2	70010603	0.876000	0.30132	0.002000	0.10522	0.013000	0.08279	4.880000	0.63107	1.070000	0.40811	0.561000	0.74099	GCC		0.687	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	446	0	0	0	1	0	5	446				
HRC	3270	broad.mit.edu	37	19	49657913	49657913	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49657913C>T	ENST00000252825.4	-	1	768	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HRC_ENST00000595625.1_Silent_p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	194	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E194E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctcttcTCCTT	0.557																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			2	Substitution - coding silent(2)	p.E194E(2)	kidney(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(580-582)gaG>gaA		histidine rich calcium binding protein							121.0	96.0	104.0					19																	49657913		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657913C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.582G>A	19.37:g.49657913C>T						HRC_ENST00000595625.1_Silent_p.E194E	p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	768	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	194			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.582G>A	CCDS12759.1																																																																																				0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		6	450	0	0	0	1	0	6	450				
KLK7	5650	broad.mit.edu	37	19	51480876	51480876	+	Silent	SNP	G	G	A	rs17855561		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			C -> W (in Ref. 9; AAH32005). {ECO:0000305}.	epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517																																						ENST00000391807.1																			1	Substitution - coding silent(1)	p.C226C(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(676-678)tgC>tgT		kallikrein-related peptidase 7							150.0	129.0	136.0					19																	51480876		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51480876G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.678C>T	19.37:g.51480876G>A						KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA	p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	6	779	-		all_neural(266;0.026)	226	C -> W (in Ref. 6; AAH32005).		Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.678C>T	CCDS12812.1																																																																																				0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		6	604	0	0	0	1	0	6	604				
CEP97	79598	broad.mit.edu	37	3	101446386	101446386	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:101446386G>A	ENST00000341893.3	+	3	1097		c.e3+1		CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa						cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAATCTTAAGGTGAATGGTTT	0.343																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.e3+1		centrosomal protein 97kDa							125.0	127.0	126.0					3																	101446386		2203	4300	6503	SO:0001630	splice_region_variant	79598					centrosome|nucleus	protein binding	g.chr3:101446386G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.345+1G>A	3.37:g.101446386G>A						CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site				Q8IW35	CEP97_HUMAN			3	1097	+								B5MDY8|Q8NA71|Q9H5T9	Splice_Site	SNP	ENST00000341893.3	37		CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419147	0.83559	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP97	102929076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	2.658000	0.90341	0.655000	0.94253	.		0.343	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	Intron	75	372	0	0	0	1	0	75	372				
KPRP	448834	broad.mit.edu	37	1	152732580	152732580	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152732580C>T	ENST00000606109.1	+	1	544	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000368773.1_Silent_p.C172C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522																																						ENST00000368773.1																			1	Substitution - coding silent(1)	p.C172C(1)	lung(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(514-516)tgC>tgT		keratinocyte proline-rich protein							119.0	121.0	120.0					1																	152732580		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732580C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.516C>T	1.37:g.152732580C>T						KPRP_ENST00000606109.1_Silent_p.C172C	p.C172C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	574	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		172			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.516C>T	CCDS30862.1																																																																																				0.522	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		5	590	0	0	0	1	0	5	590				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	683	0	0	0	1	0	6	683				
ZNF677	342926	broad.mit.edu	37	19	53740485	53740485	+	Missense_Mutation	SNP	G	G	A	rs140137479		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:53740485G>A	ENST00000598513.1	-	5	1645	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF677_ENST00000333952.4_Missense_Mutation_p.R499C	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	499					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(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGATTTGAACGTTCAGTAAAG	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19088	0.0		0.001	False		,,,				2504	0.0					ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1495-1497)Cgt>Tgt		zinc finger protein 677		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		1495	1.2	0.1	19	dbSNP_134	86	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF677	NM_182609.2	180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	499/585	53740485	2,13002	2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740485G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1495C>T	19.37:g.53740485G>A	ENSP00000469391:p.Arg499Cys					ZNF677_ENST00000598513.1_Missense_Mutation_p.R499C	p.R499C			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1660	-			499						Missense_Mutation	SNP	ENST00000598513.1	37	c.1495C>T	CCDS12861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.966	0.747973	0.15710	2.27E-4	1.16E-4	ENSG00000197928	ENST00000333952	T	0.36157	1.27	2.21	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.501906	0.15110	N	0.279990	T	0.26774	0.0655	L	0.49513	1.565	0.09310	N	1	B	0.27192	0.171	B	0.15052	0.012	T	0.13548	-1.0505	10	0.36615	T	0.2	.	6.8941	0.24247	0.1513:0.0:0.8487:0.0	.	499	Q86XU0	ZN677_HUMAN	C	499	ENSP00000334394:R499C	ENSP00000334394:R499C	R	-	1	0	ZNF677	58432297	0.000000	0.05858	0.082000	0.20525	0.912000	0.54170	-2.309000	0.01130	0.506000	0.28125	0.655000	0.94253	CGT		0.383	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		5	438	0	0	0	1	0	5	438				
RBM14	10432	broad.mit.edu	37	11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67.0	73.0	71.0					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		10	1074	0	0	0	1	0	10	1074				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			15	309	0	0	0	1	0	15	309				
AADACL3	126767	broad.mit.edu	37	1	12779503	12779503	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12779503C>G	ENST00000359318.5	+	2	229	c.24C>G	c.(22-24)atC>atG	p.I8M	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	8							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGAATCTGTTCTATGC	0.478																																						ENST00000359318.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(22-24)atC>atG		arylacetamide deacetylase-like 3							208.0	212.0	211.0					1																	12779503		1913	4124	6037	SO:0001583	missense	126767						hydrolase activity	g.chr1:12779503C>G		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.24C>G	1.37:g.12779503C>G	ENSP00000352268:p.Ile8Met					AADACL3_ENST00000332530.3_Intron	p.I8M	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	229	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	8					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.24C>G	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112902	0.37242	.	.	ENSG00000188984	ENST00000359318	T	0.07114	3.22	4.44	4.44	0.53790	.	0.459980	0.21394	N	0.075257	T	0.25158	0.0611	M	0.77313	2.365	0.28056	N	0.933172	D	0.67145	0.996	D	0.63877	0.919	T	0.03121	-1.1070	10	0.72032	D	0.01	-22.8393	10.4714	0.44640	0.0:0.8025:0.1975:0.0	.	8	Q5VUY0	ADCL3_HUMAN	M	8	ENSP00000352268:I8M	ENSP00000352268:I8M	I	+	3	3	AADACL3	12702090	0.319000	0.24607	0.922000	0.36590	0.356000	0.29392	-0.363000	0.07593	2.307000	0.77673	0.491000	0.48974	ATC		0.478	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		181	859	0	0	0	1	0	181	859				
DNAH8	1769	broad.mit.edu	37	6	38690644	38690644	+	5'Flank	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:38690644C>T	ENST00000359357.3	+	0	0				DNAH8_ENST00000449981.2_Missense_Mutation_p.T20M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCCTCTACGGAAGAGGCT	0.592																																						ENST00000449981.2																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(58-60)aCg>aTg		dynein, axonemal, heavy chain 8							22.0	22.0	22.0					6																	38690644		876	1991	2867	SO:0001631	upstream_gene_variant	1769							g.chr6:38690644C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253		6.37:g.38690644C>T	Exception_encountered						p.T20M							2	168	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.59C>T		.	.	.	.	.	.	.	.	.	.	C	12.78	2.040744	0.35989	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.24723	1.84	4.36	0.108	0.14548	.	2.167450	0.02450	N	0.085520	T	0.04048	0.0113	N	0.08118	0	0.20307	N	0.999911	B	0.26120	0.142	B	0.11329	0.006	T	0.30504	-0.9976	10	0.66056	D	0.02	.	3.659	0.08232	0.3333:0.4705:0.0:0.1962	.	20	Q8IU65	.	M	20;8;8	ENSP00000333363:T8M	ENSP00000333363:T8M	T	+	2	0	DNAH8	38798622	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	0.784000	0.26816	0.106000	0.17784	0.591000	0.81541	ACG		0.592	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		26	68	0	0	0	1	0	26	68				
ZC3H12A	80149	broad.mit.edu	37	1	37947303	37947303	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:37947303A>G	ENST00000373087.6	+	4	801	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGACAGATTCATTGTGAAGCT	0.572																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(685-687)Att>Gtt		zinc finger CCCH-type containing 12A							281.0	243.0	256.0					1																	37947303		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947303A>G		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.685A>G	1.37:g.37947303A>G	ENSP00000362179:p.Ile229Val						p.I229V	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			4	801	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	229						Missense_Mutation	SNP	ENST00000373087.6	37	c.685A>G	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753618	0.89753	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.56776	0.44	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.66939	2.045	0.80722	D	1	P	0.51351	0.944	D	0.64042	0.921	T	0.71258	-0.4646	10	0.54805	T	0.06	-24.1349	16.1549	0.81657	1.0:0.0:0.0:0.0	.	229	Q5D1E8	ZC12A_HUMAN	V	229	ENSP00000362179:I229V	ENSP00000362174:I229V	I	+	1	0	ZC3H12A	37719890	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.281000	0.95811	2.209000	0.71365	0.533000	0.62120	ATT		0.572	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		97	398	0	0	0	1	0	97	398				
UNC50	25972	broad.mit.edu	37	2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:99226304G>A	ENST00000357765.2	+	2	234	c.82G>A	c.(82-84)Gga>Aga	p.G28R	UNC50_ENST00000409975.1_Missense_Mutation_p.G45R|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(133-135)Gga>Aga		unc-50 homolog (C. elegans)							168.0	168.0	168.0					2																	99226304		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226304G>A		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.82G>A	2.37:g.99226304G>A	ENSP00000350409:p.Gly28Arg					UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|UNC50_ENST00000357765.2_Missense_Mutation_p.G28R	p.G45R			Q53HI1	UNC50_HUMAN			1	1263	+			28					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.133G>A	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		8	932	0	0	0	1	0	8	932				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	925	0	0	0	1	0	10	925				
ADRM1	11047	broad.mit.edu	37	20	60883799	60883799	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883799G>T	ENST00000253003.2	+	10	1252	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	402	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGAAGAGGAGGACATGAGCC	0.557																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1204-1206)gaG>gaT		adhesion regulating molecule 1							161.0	122.0	135.0					20																	60883799		2190	4294	6484	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883799G>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1206G>T	20.37:g.60883799G>T	ENSP00000253003:p.Glu402Asp					LAMA5_ENST00000492698.1_Intron	p.E402D	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1252	+	Breast(26;7.76e-09)		402			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1206G>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311241	0.81358	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.42581	1.335	0.80722	D	1	P	0.34699	0.464	P	0.53760	0.734	T	0.58847	-0.7564	9	0.31617	T	0.26	-32.0816	11.5512	0.50721	0.6719:0.0:0.3281:0.0	.	402	Q16186	ADRM1_HUMAN	D	402	.	ENSP00000253003:E402D	E	+	3	2	ADRM1	60317194	0.989000	0.36119	0.990000	0.47175	0.735000	0.41995	0.312000	0.19397	-0.272000	0.09259	0.561000	0.74099	GAG		0.557	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			32	167	1	0	3.1745e-13	1	3.42294e-13	32	167				
EFTUD2	9343	broad.mit.edu	37	17	42953434	42953434	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42953434G>A	ENST00000426333.2	-	10	1034	c.737C>T	c.(736-738)gCg>gTg	p.A246V	EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	246	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCCTGCACCGCATGCTTGAT	0.517																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(736-738)gCg>gTg		elongation factor Tu GTP binding domain containing 2							134.0	118.0	123.0					17																	42953434		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953434G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.737C>T	17.37:g.42953434G>A	ENSP00000392094:p.Ala246Val					EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V	p.A246V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1034	-		Prostate(33;0.109)	246					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.737C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247992	0.95305	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.74632	-0.86;-0.86	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.957	D	0.91833	0.5477	10	0.87932	D	0	-9.0248	18.401	0.90516	0.0:0.0:1.0:0.0	.	236;246	B4DMC0;Q15029	.;U5S1_HUMAN	V	246;236;211	ENSP00000392094:A246V;ENSP00000385873:A211V	ENSP00000262414:A236V	A	-	2	0	EFTUD2	40308960	1.000000	0.71417	0.438000	0.26821	0.968000	0.65278	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCG		0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		7	778	0	0	0	1	0	7	778				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		5	131	0	0	0	1	0	5	131				
ARAP1	116985	broad.mit.edu	37	11	72404390	72404390	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:72404390G>A	ENST00000393609.3	-	29	4136	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1312W	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1312	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGTAGAGCCGCAAGCAGCTG	0.612																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3934-3936)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							66.0	68.0	67.0					11																	72404390		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72404390G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3934C>T	11.37:g.72404390G>A	ENSP00000377233:p.Arg1312Trp					ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA	p.R1312W			Q96P48	ARAP1_HUMAN			29	4785	-			1312			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3934C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234264	0.58886	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.74	2.51	0.30379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.120365	0.53938	D	0.000046	T	0.77545	0.4146	L	0.38175	1.15	0.42463	D	0.99279	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;1.0;0.994;0.978;0.975	T	0.77175	-0.2684	10	0.66056	D	0.02	.	9.5284	0.39178	0.0765:0.0:0.6605:0.263	.	1067;1006;1312;1312;1072	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	W	1312;1312;1072;1067;1312;1067;1006;116	ENSP00000352332:R1312W;ENSP00000390461:R1312W;ENSP00000377230:R1072W;ENSP00000335506:R1067W;ENSP00000377233:R1312W;ENSP00000392264:R1067W;ENSP00000403127:R1006W;ENSP00000441741:R116W	ENSP00000335506:R1067W	R	-	1	2	ARAP1	72082038	0.998000	0.40836	1.000000	0.80357	0.524000	0.34500	2.315000	0.43752	0.761000	0.33130	-0.266000	0.10368	CGG		0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		5	429	0	0	0	1	0	5	429				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			10	203	1	0	4.68919e-08	1	4.92762e-08	10	203				
TRIM28	10155	broad.mit.edu	37	19	59061796	59061796	+	Missense_Mutation	SNP	G	G	A	rs553301230		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:59061796G>A	ENST00000253024.5	+	17	2673	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	795	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGAGACGCGCATGAACGAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.001		0.0	False		,,,				2504	0.0					ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2383-2385)cGc>cAc		tripartite motif containing 28							78.0	70.0	73.0					19																	59061796		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061796G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2384G>A	19.37:g.59061796G>A	ENSP00000253024:p.Arg795His					TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	p.R795H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	17	2673	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	795			Bromo.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2384G>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729403	0.48833	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.43688	0.94;0.94	5.06	2.95	0.34219	Bromodomain (2);	0.154547	0.40469	N	0.001086	T	0.28532	0.0706	L	0.27053	0.805	0.34967	D	0.752756	B;B;B	0.31054	0.306;0.01;0.204	B;B;B	0.31337	0.128;0.025;0.086	T	0.36939	-0.9727	10	0.46703	T	0.11	-21.0615	9.4971	0.38995	0.1711:0.0:0.8289:0.0	.	713;795;795	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	H	795;713	ENSP00000253024:R795H;ENSP00000342232:R713H	ENSP00000253024:R795H	R	+	2	0	TRIM28	63753608	0.633000	0.27181	0.989000	0.46669	0.989000	0.77384	1.837000	0.39201	0.857000	0.35407	0.462000	0.41574	CGC		0.602	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		5	612	0	0	0	1	0	5	612				
SFXN4	119559	broad.mit.edu	37	10	120914629	120914629	+	Missense_Mutation	SNP	G	G	A	rs151157939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:120914629G>A	ENST00000355697.2	-	11	696	c.677C>T	c.(676-678)gCg>gTg	p.A226V	SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	226					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTCCATGACCGCAATCCCCTT	0.478																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(676-678)gCg>gTg		sideroflexin 4		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	148.0	124.0	132.0		677	2.4	0.8	10	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN4	NM_213649.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	226/338	120914629	2,13004	2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120914629G>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.677C>T	10.37:g.120914629G>A	ENSP00000347924:p.Ala226Val					SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	p.A226V	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	11	696	-		Lung NSC(174;0.094)|all_lung(145;0.123)	226					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.677C>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120310	0.20877	2.27E-4	1.16E-4	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.30714	1.52;1.52;1.52	4.77	2.38	0.29361	.	0.608708	0.17108	N	0.186736	T	0.19005	0.0456	L	0.36672	1.1	0.09310	N	1	P	0.47677	0.899	B	0.38755	0.281	T	0.08806	-1.0704	10	0.33940	T	0.23	-8.9942	5.8839	0.18870	0.0:0.0913:0.1753:0.7334	.	226	Q6P4A7	SFXN4_HUMAN	V	226;217;109;110	ENSP00000347924:A226V;ENSP00000333200:A217V;ENSP00000358127:A110V	ENSP00000333200:A217V	A	-	2	0	SFXN4	120904619	0.189000	0.23263	0.799000	0.32177	0.166000	0.22503	0.232000	0.17891	0.867000	0.35654	-0.281000	0.10026	GCG		0.478	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		5	417	0	0	0	1	0	5	417				
ADAM30	11085	broad.mit.edu	37	1	120438703	120438703	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:120438703C>T	ENST00000369400.1	-	1	415	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	86					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCGCAGATGTCGGGGCAACAG	0.527																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(256-258)cGa>cAa		ADAM metallopeptidase domain 30							73.0	68.0	70.0					1																	120438703		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438703C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.257G>A	1.37:g.120438703C>T	ENSP00000358407:p.Arg86Gln						p.R86Q	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	415	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	86					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.257G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590440	0.66219	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05996	3.36	4.56	1.5	0.22942	Peptidase M12B, propeptide (1);	0.000000	0.32655	U	0.005818	T	0.04227	0.0117	L	0.60957	1.885	0.09310	N	1	P	0.52842	0.956	P	0.53490	0.727	T	0.27262	-1.0079	10	0.56958	D	0.05	.	2.9046	0.05716	0.1851:0.5349:0.1794:0.1006	.	86	Q9UKF2	ADA30_HUMAN	Q	86	ENSP00000358407:R86Q	ENSP00000358407:R86Q	R	-	2	0	ADAM30	120240226	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-1.640000	0.02009	0.132000	0.18615	0.462000	0.41574	CGA		0.527	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		5	368	0	0	0	1	0	5	368				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	686	1	0	0.000274275	1	0.000279919	6	686				
ABCB8	11194	broad.mit.edu	37	7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A	rs575426628		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:150741223G>A	ENST00000297504.6	+	16	2048	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000358849.4_Missense_Mutation_p.R644H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	661	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGTGCAGGCCGCACGGTGCTG	0.642																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1930-1932)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							60.0	51.0	54.0					7																	150741223		2203	4299	6502	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150741223G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1982G>A	7.37:g.150741223G>A	ENSP00000297504:p.Arg661His					ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000356058.4_3'UTR	p.R644H	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	2024	+			661			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1931G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.237329	0.95240	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;T	0.85088	-1.94;-1.94;-1.94;-0.67	4.79	4.79	0.61399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.90458	0.4444	10	0.49607	T	0.09	-2.0118	15.719	0.77694	0.0:0.0:1.0:0.0	.	556;644;661;644	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	H	644;627;661;556;644	ENSP00000351717:R644H;ENSP00000297504:R661H;ENSP00000438776:R556H;ENSP00000418271:R644H	ENSP00000297504:R661H	R	+	2	0	ABCB8	150372156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.512000	0.60469	2.651000	0.90000	0.563000	0.77884	CGC		0.642	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		5	349	0	0	0	1	0	5	349				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	308	0	0	0	1	0	7	308				
CNOT6	57472	broad.mit.edu	37	5	179992902	179992902	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179992902G>A	ENST00000393356.1	+	9	1066	c.642G>A	c.(640-642)gcG>gcA	p.A214A	CNOT6_ENST00000261951.4_Silent_p.A214A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	214	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CATCATGGGCGCTAAACTGGG	0.418																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(640-642)gcG>gcA		CCR4-NOT transcription complex, subunit 6							116.0	108.0	111.0					5																	179992902		2203	4300	6503	SO:0001819	synonymous_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179992902G>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.642G>A	5.37:g.179992902G>A						CNOT6_ENST00000261951.4_Silent_p.A214A	p.A214A			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	9	1066	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	214					A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	c.642G>A	CCDS4455.1																																																																																				0.418	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		5	462	0	0	0	1	0	5	462				
ADM5	199800	broad.mit.edu	37	19	50189963	50189963	+	5'Flank	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50189963C>T	ENST00000420022.3	+	0	0				PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.R292W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)							extracellular region (GO:0005576)		p.R314W(1)									CATCGGCATGCGGCCCAACGC	0.647																																						ENST00000532489.1																			1	Substitution - Missense(1)	p.R314W(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(874-876)Cgg>Tgg		protein arginine methyltransferase 1							47.0	41.0	43.0					19																	50189963		2203	4299	6502	SO:0001631	upstream_gene_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50189963C>T	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 76"", ""adrenomedullin 5 homolog (pig)"""	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6			19.37:g.50189963C>T	Exception_encountered					PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W	p.R292W			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	10	1380	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	319						Missense_Mutation	SNP	ENST00000420022.3	37	c.874C>T	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582949	0.28268	.	.	ENSG00000126457	ENST00000532489;ENST00000391851;ENST00000454376	T;T;T	0.78246	-1.16;-1.16;-1.16	4.34	2.12	0.27331	.	0.064915	0.64402	D	0.000011	T	0.75162	0.3812	M	0.77616	2.38	0.33715	D	0.616208	B;B;B;B	0.17465	0.004;0.013;0.022;0.006	B;B;B;B	0.09377	0.001;0.001;0.003;0.004	T	0.76490	-0.2940	10	0.87932	D	0	-20.1242	10.0768	0.42366	0.5515:0.4485:0.0:0.0	.	328;292;320;314	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	W	292;320;338	ENSP00000433556:R292W;ENSP00000375724:R320W;ENSP00000406162:R338W	ENSP00000375724:R320W	R	+	1	2	PRMT1	54881775	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	2.706000	0.47135	0.414000	0.25790	0.447000	0.29281	CGG		0.647	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		6	301	0	0	0	1	0	6	301				
ARG1	383	broad.mit.edu	37	6	131894445	131894445	+	Missense_Mutation	SNP	T	T	C	rs149310631		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:131894445T>C	ENST00000368087.3	+	1	162	c.23T>C	c.(22-24)aTa>aCa	p.I8T	ARG1_ENST00000356962.2_Missense_Mutation_p.I8T|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	8					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCAGAACCATAGGGATTATT	0.423																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(22-24)aTa>aCa		arginase 1	L-Ornithine(DB00129)						105.0	100.0	102.0					6																	131894445		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131894445T>C		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.23T>C	6.37:g.131894445T>C	ENSP00000357066:p.Ile8Thr					ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.I8T|ARG1_ENST00000356962.2_Missense_Mutation_p.I8T	p.I8T			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	1	162	+	Breast(56;0.0753)		8					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.23T>C	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883549	0.17467	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86366	-2.11;-2.11;-2.11	5.79	5.79	0.91817	Ureohydrolase domain (1);	0.325628	0.33290	N	0.005063	D	0.84325	0.5447	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.30793	0.251;0.295	B;B	0.40410	0.318;0.328	T	0.80315	-0.1434	10	0.56958	D	0.05	-5.487	8.5965	0.33718	0.0:0.085:0.0:0.915	.	8;8	P05089-2;P05089	.;ARGI1_HUMAN	T	8	ENSP00000357066:I8T;ENSP00000349446:I8T;ENSP00000417694:I8T	ENSP00000349446:I8T	I	+	2	0	ARG1	131936138	0.030000	0.19436	0.132000	0.22025	0.004000	0.04260	2.543000	0.45752	2.213000	0.71641	0.533000	0.62120	ATA		0.423	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			68	205	0	0	0	1	0	68	205				
PCOLCE	5118	broad.mit.edu	37	7	100204241	100204241	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100204241C>T	ENST00000223061.5	+	6	1208	c.928C>T	c.(928-930)Cct>Tct	p.P310S	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGGAATCTCCTTCAGCCCC	0.572																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(928-930)Cct>Tct		procollagen C-endopeptidase enhancer							30.0	32.0	31.0					7																	100204241		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100204241C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.928C>T	7.37:g.100204241C>T	ENSP00000223061:p.Pro310Ser						p.P310S	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			6	1208	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		310					B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.928C>T	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429560	0.25726	.	.	ENSG00000106333	ENST00000223061	T	0.19938	2.11	4.69	3.78	0.43462	.	0.932278	0.09080	N	0.851413	T	0.11580	0.0282	N	0.08118	0	0.18873	N	0.999988	B	0.23937	0.094	B	0.16722	0.016	T	0.22800	-1.0206	10	0.48119	T	0.1	-3.7786	7.9145	0.29810	0.0:0.8816:0.0:0.1184	.	310	Q15113	PCOC1_HUMAN	S	310	ENSP00000223061:P310S	ENSP00000223061:P310S	P	+	1	0	PCOLCE	100042177	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.043000	0.30316	1.134000	0.42165	0.407000	0.27541	CCT		0.572	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		30	139	0	0	0	1	0	30	139				
MIA3	375056	broad.mit.edu	37	1	222802593	222802593	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:222802593C>T	ENST00000344922.5	+	4	2056	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L677L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	677					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L677L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATAAGGCTCTCTGAGGGAG	0.488																																						ENST00000344922.5																			1	Substitution - coding silent(1)	p.L677L(1)	pancreas(1)	breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(2029-2031)ctC>ctT		melanoma inhibitory activity family, member 3							69.0	71.0	70.0					1																	222802593		1929	4124	6053	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802593C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2031C>T	1.37:g.222802593C>T						MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	p.L677L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2056	+			677					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.2031C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.388	-0.340457	0.05243	.	.	ENSG00000154305	ENST00000354906	T	0.19806	2.12	4.36	-6.82	0.01698	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34354	-0.9832	6	0.10111	T	0.7	.	3.8314	0.08876	0.0778:0.2549:0.3136:0.3537	.	.	.	.	F	260	ENSP00000355062:L260F	ENSP00000355062:L260F	L	+	1	0	MIA3	220869216	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.357000	0.00128	-2.045000	0.00910	-2.178000	0.00318	CTC		0.488	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		90	438	0	0	0	1	0	90	438				
SLC6A10P	386757	broad.mit.edu	37	16	32891904	32891904	+	RNA	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:32891904C>T	ENST00000330048.5	-	0	2819					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CTGTTGATGACAGCCAGGATG	0.637																																						ENST00000330048.5																			0																																																			0							g.chr16:32891904C>T	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32891904C>T								NR_003083.2						0	2819	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.637	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			5	352	0	0	0	1	0	5	352				
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T	rs374836136		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(238-240)agC>agT		forkhead box D4-like 1		C		1,4309		0,1,2154	45.0	65.0	59.0		240	-1.0	0.0	2		59	4,8362		0,4,4179	no	coding-synonymous	FOXD4L1	NM_012184.4		0,5,6333	TT,TC,CC		0.0478,0.0232,0.0394		80/409	114257073	5,12671	2155	4183	6338	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257073C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.240C>T	2.37:g.114257073C>T							p.S80S	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	413	+			80					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.240C>T	CCDS2117.1																																																																																				0.697	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		6	433	0	0	0	1	0	6	433				
POTEM	641455	broad.mit.edu	37	14	20019883	20019883	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:20019883C>T	ENST00000551509.1	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	113										endometrium(4)|kidney(1)|lung(4)	9						TTTGCTCTTGCCGCTCCCCCT	0.602																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(337-339)gGc>gAc		POTE ankyrin domain family, member M							38.0	47.0	45.0					14																	20019883		306	1012	1318	SO:0001583	missense	641455							g.chr14:20019883C>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.338G>A	14.37:g.20019883C>T	ENSP00000452296:p.Gly113Asp						p.G113D	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	389	-			113						Missense_Mutation	SNP	ENST00000551509.1	37	c.338G>A	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	c	6.643	0.487210	0.12641	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28895	1.59	0.553	0.553	0.17235	.	.	.	.	.	T	0.29458	0.0734	L	0.58101	1.795	0.09310	N	1	P	0.47253	0.892	B	0.43575	0.424	T	0.14420	-1.0473	7	.	.	.	.	.	.	.	.	113	A6NI47	POTEM_HUMAN	D	113	ENSP00000452296:G113D	.	G	-	2	0	POTEM	19089883	0.000000	0.05858	0.011000	0.14972	0.102000	0.19082	-0.603000	0.05674	0.610000	0.30035	0.064000	0.15345	GGC		0.602	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		6	963	0	0	0	1	0	6	963				
NBPF10	100132406	broad.mit.edu	37	1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G	rs587687982	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:145328417A>G	ENST00000342960.5	+	33	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	763						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458													.|||	607	0.121206	0.1233	0.1744	5008	,	,		9720	0.1944		0.0636	False		,,,				2504	0.0644					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4264-4266)gAc>gGc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145328417A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4265A>G	1.37:g.145328417A>G	ENSP00000345684:p.Asp1422Gly					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.D1422G	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4300	+	all_hematologic(923;0.032)		1422					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4265A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565282	0.00903	.	.	ENSG00000163386	ENST00000342960	T	0.05717	3.4	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.46091	-0.9216	5	0.17369	T	0.5	.	.	.	.	.	.	.	.	G	1422	ENSP00000345684:D1422G	ENSP00000345684:D1422G	D	+	2	0	NBPF10	144039774	0.001000	0.12720	0.022000	0.16811	0.513000	0.34164	-0.743000	0.04845	0.000000	0.14550	0.000000	0.15137	GAC		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	187	0	0	0	1	0	6	187				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	936	0	0	0	1	0	11	936				
RP11-467H10.2	0	broad.mit.edu	37	7	76681019	76681019	+	RNA	SNP	T	T	C	rs368939634		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:76681019T>C	ENST00000459742.1	+	0	58																											CCCACCCCCCTCCCCCCACCC	0.517																																						ENST00000459742.1																			0																																																			0							g.chr7:76681019T>C																													7.37:g.76681019T>C														0	58	+									RNA	SNP	ENST00000459742.1	37																																																																																						0.517	RP11-467H10.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473089.1			4	29	0	0	0	1	0	4	29				
CBL	867	broad.mit.edu	37	11	119148958	119148958	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119148958T>C	ENST00000264033.4	+	8	1554	c.1178T>C	c.(1177-1179)aTt>aCt	p.I393T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	393	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATGTAAAGATTGAGCCCTGT	0.368			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		16	Deletion - In frame(15)|Unknown(1)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(16)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1177-1179)aTt>aCt		Cbl proto-oncogene, E3 ubiquitin protein ligase							118.0	111.0	113.0					11																	119148958		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119148958T>C	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1178T>C	11.37:g.119148958T>C	ENSP00000264033:p.Ile393Thr						p.I393T	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	8	1554	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	393			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1178T>C	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515433	0.64634	.	.	ENSG00000110395	ENST00000264033	D	0.96011	-3.88	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97019	0.9742	10	0.87932	D	0	-15.1332	15.9527	0.79855	0.0:0.0:0.0:1.0	.	393	P22681	CBL_HUMAN	T	393	ENSP00000264033:I393T	ENSP00000264033:I393T	I	+	2	0	CBL	118654168	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	7.655000	0.83696	2.227000	0.72691	0.455000	0.32223	ATT		0.368	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		6	461	0	0	0	1	0	6	461				
MEPCE	56257	broad.mit.edu	37	7	100030663	100030663	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100030663G>A	ENST00000310512.2	+	2	2181	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H|RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	598	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTGAAGCGCATGTTTCGC	0.592																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1792-1794)cGc>cAc		methylphosphate capping enzyme							89.0	81.0	84.0					7																	100030663		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100030663G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1793G>A	7.37:g.100030663G>A	ENSP00000308546:p.Arg598His					MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H	p.R598H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			2	2181	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		598			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.1793G>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259612	0.95368	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	T;T	0.47528	0.84;0.88	5.15	5.15	0.70609	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.000000	0.64402	D	0.000001	T	0.66665	0.2812	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67405	-0.5679	10	0.51188	T	0.08	-18.4044	16.4721	0.84114	0.0:0.0:1.0:0.0	.	598	Q7L2J0	MEPCE_HUMAN	H	129;129;598	ENSP00000400875:R129H;ENSP00000308546:R598H	ENSP00000308546:R598H	R	+	2	0	MEPCE	99868599	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.992000	0.93519	2.553000	0.86117	0.462000	0.41574	CGC		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			6	562	0	0	0	1	0	6	562				
PCDHGA6	56109	broad.mit.edu	37	5	140755802	140755802	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140755802C>T	ENST00000517434.1	+	1	2152	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACTGCAGCGCTGGCACAA	0.647																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2152-2154)Cgc>Tgc									85.0	94.0	91.0					5																	140755802		2203	4300	6503	SO:0001583	missense	0							g.chr5:140755802C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2152C>T	5.37:g.140755802C>T	ENSP00000429601:p.Arg718Cys					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.R718C	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2152	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2152C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632413	0.29068	.	.	ENSG00000253731	ENST00000517434	T	0.23147	1.92	5.15	3.22	0.36961	.	2.171190	0.04336	U	0.353247	T	0.40448	0.1117	M	0.86651	2.83	0.28148	N	0.929514	B;B	0.32010	0.351;0.047	B;B	0.29176	0.099;0.066	T	0.49679	-0.8914	10	0.72032	D	0.01	.	12.5336	0.56131	0.3755:0.6245:0.0:0.0	.	718;718	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	C	718	ENSP00000429601:R718C	ENSP00000429601:R718C	R	+	1	0	PCDHGA6	140735986	0.000000	0.05858	0.961000	0.40146	0.199000	0.23934	0.469000	0.22067	1.511000	0.48818	0.655000	0.94253	CGC		0.647	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		137	553	0	0	0	1	0	137	553				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	543	0	0	0	1	0	11	543				
ANKRD12	23253	broad.mit.edu	37	18	9255365	9255365	+	Silent	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:9255365T>C	ENST00000262126.4	+	9	2340	c.2100T>C	c.(2098-2100)ttT>ttC	p.F700F	ANKRD12_ENST00000383440.2_Silent_p.F677F|ANKRD12_ENST00000400020.3_Silent_p.F677F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	700						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aagagaatttttttaaaagtg	0.279																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(2029-2031)ttT>ttC		ankyrin repeat domain 12							39.0	44.0	42.0					18																	9255365		2108	4161	6269	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9255365T>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2100T>C	18.37:g.9255365T>C						ANKRD12_ENST00000262126.3_Silent_p.F700F|ANKRD12_ENST00000400020.3_Silent_p.F677F	p.F677F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	2288	+			700					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.2031T>C	CCDS11843.1																																																																																				0.279	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		4	206	0	0	0	1	0	4	206				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1234-1236)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q	p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1235	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	494	0	0	0	1	0	6	494				
PCDH11X	27328	broad.mit.edu	37	X	91090548	91090548	+	Silent	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:91090548A>G	ENST00000373094.1	+	1	890	c.45A>G	c.(43-45)gcA>gcG	p.A15A	PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000504220.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	15					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCTGCTAGCATGCGTGGTGT	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(43-45)gcA>gcG		protocadherin 11 X-linked							139.0	108.0	119.0					X																	91090548		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090548A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.45A>G	X.37:g.91090548A>G						PCDH11X_ENST00000504220.1_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A	p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	890	+			15					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.45A>G	CCDS14461.1																																																																																				0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		6	208	0	0	0	1	0	6	208				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	299	0	0	0	1	0	7	299				
NSDHL	50814	broad.mit.edu	37	X	152037520	152037520	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:152037520C>T	ENST00000370274.3	+	8	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	328					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCATGCGGGTCGCACT	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(982-984)Cgg>Tgg		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						77.0	61.0	66.0					X																	152037520		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037520C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.982C>T	X.37:g.152037520C>T	ENSP00000359297:p.Arg328Trp					NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1176	+	Acute lymphoblastic leukemia(192;6.56e-05)		328					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.982C>T	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84298	-1.83;-1.83	4.12	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.82323	2.585	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90694	0.4615	10	0.87932	D	0	-28.041	9.0154	0.36166	0.3959:0.6041:0.0:0.0	.	328	Q15738	NSDHL_HUMAN	W	328	ENSP00000359297:R328W;ENSP00000391854:R328W	ENSP00000359297:R328W	R	+	1	2	NSDHL	151788176	1.000000	0.71417	0.081000	0.20488	0.248000	0.25809	2.568000	0.45965	0.820000	0.34516	0.544000	0.68410	CGG		0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		4	210	0	0	0	1	0	4	210				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	507	0	0	0	1	0	5	507				
HSP90AB1	3326	broad.mit.edu	37	6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					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)			AGAAGAGAGGCGGGTCAAAGA	0.433																																						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.(589-591)Cgg>Tgg		heat shock protein 90kDa alpha (cytosolic), class B member 1							101.0	105.0	104.0					6																	44217832		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.chr6:44217832C>T	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.589C>T	6.37:g.44217832C>T	ENSP00000360609:p.Arg197Trp					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W	p.R197W			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	803	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		197					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.589C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774006	0.69992	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	2.63	0.31362	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000002	T	0.08088	0.0202	N	0.11255	0.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.988;0.991	T	0.22487	-1.0215	10	0.87932	D	0	-12.2293	6.6825	0.23127	0.1472:0.6922:0.0:0.1606	.	159;187;197	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	W	149;197;197;197	ENSP00000360709:R197W;ENSP00000325875:R197W;ENSP00000360609:R197W	ENSP00000325875:R197W	R	+	1	2	HSP90AB1	44325810	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.169000	0.31871	0.305000	0.22832	0.557000	0.71058	CGG		0.433	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		6	425	0	0	0	1	0	6	425				
DHRS7C	201140	broad.mit.edu	37	17	9684814	9684814	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000330255.5	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000571134.1_Silent_p.V84V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	84					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTCAGCCACGCTGATCA	0.552																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(250-252)gtG>gtA		dehydrogenase/reductase (SDR family) member 7C							73.0	80.0	78.0					17																	9684814		2031	4182	6213	SO:0001819	synonymous_variant	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684814C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.252G>A	17.37:g.9684814C>T						DHRS7C_ENST00000571134.1_Silent_p.V84V	p.V84V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			2	264	-			84					B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	c.252G>A	CCDS56020.1																																																																																				0.552	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		47	168	0	0	0	1	0	47	168				
RYR3	6263	broad.mit.edu	37	15	34130099	34130099	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:34130099T>C	ENST00000389232.4	+	89	11988	c.11918T>C	c.(11917-11919)aTg>aCg	p.M3973T	RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3973					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAATGACATGTTTAATTAC	0.428																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11917-11919)aTg>aCg		ryanodine receptor 3							138.0	137.0	138.0					15																	34130099		1962	4145	6107	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130099T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11918T>C	15.37:g.34130099T>C	ENSP00000373884:p.Met3973Thr					RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	p.M3973T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11988	+		all_lung(180;7.18e-09)	3973					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11918T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109599	0.37242	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.81739	-1.53	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	N	0.12831	0.26	0.53005	D	0.99996	P;B	0.52316	0.952;0.012	P;B	0.54499	0.754;0.014	T	0.76389	-0.2977	10	0.30854	T	0.27	.	15.5941	0.76566	0.0:0.0:0.0:1.0	.	3968;3973	Q15413-2;Q15413	.;RYR3_HUMAN	T	3973;3969	ENSP00000373884:M3973T	ENSP00000354735:M3969T	M	+	2	0	RYR3	31917391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.272000	0.75746	0.450000	0.29827	ATG		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			142	572	0	0	0	1	0	142	572				
PFKM	5213	broad.mit.edu	37	12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:48536575G>A	ENST00000312352.7	+	18	1703	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000340802.6_Missense_Mutation_p.R626H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	555	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1876-1878)cGc>cAc		phosphofructokinase, muscle							130.0	117.0	121.0					12																	48536575		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48536575G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1664G>A	12.37:g.48536575G>A	ENSP00000309438:p.Arg555His					PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H	p.R626H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			20	2101	+			555					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1877G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795504	0.90453	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	4.31	0.51392	Phosphofructokinase domain (2);	0.049858	0.85682	D	0.000000	D	0.91462	0.7305	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.953;0.933	D	0.93406	0.6764	10	0.62326	D	0.03	-12.3227	15.1275	0.72494	0.0:0.0:0.8573:0.1427	.	524;555;626	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	626;555;524;524;555;555;170	ENSP00000345771:R626H;ENSP00000352842:R555H;ENSP00000378656:R524H;ENSP00000448177:R524H;ENSP00000449426:R555H;ENSP00000309438:R555H;ENSP00000446519:R170H	ENSP00000309438:R555H	R	+	2	0	PFKM	46822842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	1.541000	0.49316	0.655000	0.94253	CGC		0.488	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		7	615	0	0	0	1	0	7	615				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	439	0	0	0	1	0	5	439				
COPA	1314	broad.mit.edu	37	1	160261696	160261696	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191.0	193.0	192.0					1																	160261696		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261696G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	1015	0	0	0	1	0	7	1015				
KRTAP5-3	387266	broad.mit.edu	37	11	1629253	1629253	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:1629253G>A	ENST00000399685.1	-	1	440	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	121	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C121C(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CACAAGAACCGCAGCCCCCCT	0.647																																						ENST00000399685.1																			1	Substitution - coding silent(1)	p.C121C(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(361-363)tgC>tgT		keratin associated protein 5-3							73.0	94.0	87.0					11																	1629253		2199	4299	6498	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629253G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.363C>T	11.37:g.1629253G>A							p.C121C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	440	-		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)	121			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.363C>T	CCDS41591.1																																																																																				0.647	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			8	1081	0	0	0	1	0	8	1081				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		27	84	0	0	0	1	0	27	84				
BMP1	649	broad.mit.edu	37	8	22019355	22019355	+	5'Flank	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:22019355G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGGGCAGCAAAGAGGTC	0.582																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(13-15)aGc>aAc		surfactant protein C							164.0	188.0	180.0					8																	22019355		2168	4261	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019355G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019355G>A	Exception_encountered					SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N	p.S5N			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	46	+			5					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.14G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		6	535	0	0	0	1	0	6	535				
DIAPH2	1730	broad.mit.edu	37	X	96185760	96185760	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:96185760T>G	ENST00000324765.8	+	10	1354	c.1007T>G	c.(1006-1008)cTt>cGt	p.L336R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	336	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATAAATGCCCTTGTCACTTCT	0.303																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1006-1008)cTt>cGt		diaphanous-related formin 2							96.0	87.0	90.0					X																	96185760		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96185760T>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1007T>G	X.37:g.96185760T>G	ENSP00000321348:p.Leu336Arg					DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R	p.L336R			O60879	DIAP2_HUMAN			10	1354	+			336			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1007T>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234447	0.58886	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.93	4.93	0.64822	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	D	0.96411	0.8829	M	0.89095	3.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97111	0.9804	10	0.87932	D	0	.	13.9748	0.64265	0.0:0.0:0.0:1.0	.	336;336;343	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	336;332;336;336;336;343	ENSP00000362152:L336R;ENSP00000362145:L332R;ENSP00000348082:L336R;ENSP00000362140:L336R;ENSP00000321348:L336R	ENSP00000321348:L336R	L	+	2	0	DIAPH2	96072416	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.424000	0.80242	1.745000	0.51790	0.481000	0.45027	CTT		0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		65	125	0	0	0	1	0	65	125				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		17	90	0	0	0	1	0	17	90				
GPR149	344758	broad.mit.edu	37	3	154056055	154056055	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:154056055G>A	ENST00000389740.2	-	4	1728	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	543					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGGCATAACCGGAACGCTGGG	0.423																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1627-1629)tcC>tcT		G protein-coupled receptor 149							80.0	81.0	81.0					3																	154056055		1879	4100	5979	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056055G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1629C>T	3.37:g.154056055G>A							p.S543S	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1728	-			543						Silent	SNP	ENST00000389740.2	37	c.1629C>T	CCDS43162.1																																																																																				0.423	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		5	585	0	0	0	1	0	5	585				
TUBA1A	7846	broad.mit.edu	37	12	49579753	49579753	+	Silent	SNP	G	G	A	rs1143560	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49579753G>A	ENST00000295766.5	-	4	875	c.396C>T	c.(394-396)ctC>ctT	p.L132L	TUBA1A_ENST00000550767.1_Silent_p.L97L|TUBA1A_ENST00000301071.7_Silent_p.L132L|TUBA1A_ENST00000546918.1_Missense_Mutation_p.S183F	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	132					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AGAAGCCCTGGAGACCCGTGC	0.438													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.0				Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000546918.1																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(547-549)tCc>tTc		tubulin, alpha 1a		G		3,4403	6.2+/-15.9	0,3,2200	37.0	39.0	38.0		396	-3.6	1.0	12	dbSNP_86	38	11,8589	9.1+/-34.3	0,11,4289	no	coding-synonymous	TUBA1A	NM_006009.2		0,14,6489	AA,AG,GG		0.1279,0.0681,0.1076		132/452	49579753	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579753G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.396C>T	12.37:g.49579753G>A						TUBA1A_ENST00000550767.1_Silent_p.L97L|TUBA1A_ENST00000301071.7_Silent_p.L132L|TUBA1A_ENST00000295766.5_Silent_p.L132L	p.S183F			Q71U36	TBA1A_HUMAN			3	634	-			0					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.548C>T	CCDS58227.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	2.113|2.113	-0.403319|-0.403319	0.04832|0.04832	6.81E-4|6.81E-4	0.001279|0.001279	ENSG00000167552|ENSG00000167552	ENST00000552250|ENST00000546918	.|T	.|0.63744	.|-0.06	5.09|5.09	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|T	0.33469|0.33469	0.0864|0.0864	.|.	.|.	.|.	0.27203|0.27203	N|N	0.960107|0.960107	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32107|0.32107	-0.9919|-0.9919	5|6	0.87932|0.07990	D|T	0|0.79	.|.	8.1491|8.1491	0.31130|0.31130	0.2645:0.2673:0.4682:0.0|0.2645:0.2673:0.4682:0.0	.|.	.|.	.|.	.|.	S|F	83|183	.|ENSP00000446613:S183F	ENSP00000449413:P83S|ENSP00000446613:S183F	P|S	-|-	1|2	0|0	TUBA1A|TUBA1A	47866020|47866020	0.006000|0.006000	0.16342|0.16342	0.952000|0.952000	0.39060|0.39060	0.427000|0.427000	0.31564|0.31564	-1.468000|-1.468000	0.02350|0.02350	-0.857000|-0.857000	0.04115|0.04115	-1.587000|-1.587000	0.00848|0.00848	CCA|TCC		0.438	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		6	279	0	0	0	1	0	6	279				
ZDHHC5	25921	broad.mit.edu	37	11	57466302	57466302	+	Missense_Mutation	SNP	A	A	G	rs369287219		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57466302A>G	ENST00000287169.3	+	11	2756	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	465					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGACACGCAATGGAAGCCTA	0.557																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1393-1395)aAt>aGt		zinc finger, DHHC-type containing 5		A	SER/ASN	0,4402		0,0,2201	96.0	75.0	82.0		1394	5.1	1.0	11		82	1,8591	1.2+/-3.3	0,1,4295	no	missense	ZDHHC5	NM_015457.2	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	465/716	57466302	1,12993	2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466302A>G	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1394A>G	11.37:g.57466302A>G	ENSP00000287169:p.Asn465Ser					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	p.N465S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2756	+			465					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1394A>G	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918245	0.73098	0.0	1.16E-4	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.85013	-0.09;0.89;-1.93	5.09	5.09	0.68999	.	0.269487	0.37219	N	0.002189	D	0.84224	0.5425	L	0.37561	1.115	0.80722	D	1	P	0.42827	0.791	P	0.48873	0.593	D	0.85335	0.1092	10	0.52906	T	0.07	-19.2371	14.709	0.69215	1.0:0.0:0.0:0.0	.	465	Q9C0B5	ZDHC5_HUMAN	S	412;465;299	ENSP00000432202:N412S;ENSP00000287169:N465S;ENSP00000435722:N299S	ENSP00000287169:N465S	N	+	2	0	ZDHHC5	57222878	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	8.502000	0.90505	2.146000	0.66826	0.460000	0.39030	AAT		0.557	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		48	236	0	0	0	1	0	48	236				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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	243	0	0	0	1	0	11	243				
CRIPAK	285464	broad.mit.edu	37	4	1388722	1388722	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1388722C>T	ENST00000324803.4	+	1	3383	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	141					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCCATGCGGAG	0.697																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(421-423)tgC>tgT		cysteine-rich PAK1 inhibitor							37.0	35.0	36.0					4																	1388722		1907	3673	5580	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388722C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.423C>T	4.37:g.1388722C>T							p.C141C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3383	+			141					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.423C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.335	0.247132	0.10130	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-0.286	0.12862	.	.	.	.	.	T	0.28532	0.0706	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29971	-0.9994	5	0.54805	T	0.06	.	2.9357	0.05814	0.3054:0.3898:0.3048:0.0	.	.	.	.	S	125	.	ENSP00000372402:P125S	P	+	1	0	CRIPAK	1378722	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.190000	0.03058	-0.076000	0.12775	0.121000	0.15741	CCC		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		13	2531	0	0	0	1	0	13	2531				
FAM135A	57579	broad.mit.edu	37	6	71232278	71232278	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:71232278C>T	ENST00000418814.2	+	13	1706	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	FAM135A_ENST00000457062.2_Silent_p.Y347Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	364										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCATTGCATACCAGGAACTTC	0.333																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1090-1092)taC>taT		family with sequence similarity 135, member A							110.0	117.0	115.0					6																	71232278		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71232278C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1092C>T	6.37:g.71232278C>T						FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y	p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			13	1706	+			364					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.1092C>T	CCDS55028.1																																																																																				0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		108	345	0	0	0	1	0	108	345				
GFAP	2670	broad.mit.edu	37	17	42990738	42990738	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42990738C>T	ENST00000253408.5	-	4	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T|GFAP_ENST00000586793.1_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	227	Linker 12.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTGGCTTGGCCACGTCAAGC	0.607																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(679-681)Gcc>Acc		glial fibrillary acidic protein							92.0	72.0	79.0					17																	42990738		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42990738C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.679G>A	17.37:g.42990738C>T	ENSP00000253408:p.Ala227Thr					GFAP_ENST00000586793.1_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T	p.A227T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			4	744	-		Prostate(33;0.0959)	227			Linker 12.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.679G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544765	0.13312	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95853	-3.83;-3.83	4.93	2.92	0.33932	Filament (1);	0.204172	0.43110	D	0.000602	D	0.88644	0.6492	N	0.17674	0.51	0.30072	N	0.809996	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.007	T	0.82680	-0.0337	10	0.66056	D	0.02	.	4.7956	0.13270	0.4228:0.4185:0.0:0.1588	.	227;227	E9PAX3;P14136	.;GFAP_HUMAN	T	227;202;227	ENSP00000253408:A227T;ENSP00000403962:A227T	ENSP00000253408:A227T	A	-	1	0	GFAP	40346264	0.009000	0.17119	0.653000	0.29593	0.053000	0.15095	0.375000	0.20518	0.788000	0.33755	-0.181000	0.13052	GCC		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	406	0	0	0	1	0	5	406				
PRUNE2	158471	broad.mit.edu	37	9	79438590	79438590	+	Silent	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:79438590T>C	ENST00000376718.3	-	6	837	c.714A>G	c.(712-714)ggA>ggG	p.G238G	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.G238G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	238					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTTATTTCTCCATCTGACA	0.373																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(712-714)ggA>ggG		prune homolog 2 (Drosophila)							162.0	134.0	144.0					9																	79438590		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79438590T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.714A>G	9.37:g.79438590T>C						PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.G238G	p.G238G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			6	837	-			238					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.714A>G	CCDS47982.1																																																																																				0.373	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		90	486	0	0	0	1	0	90	486				
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(778-780)Cgg>Tgg		chromosome 1 open reading frame 110							84.0	82.0	82.0					1																	162824686		1883	4107	5990	SO:0001583	missense	339512							g.chr1:162824686G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	1.37:g.162824686G>A	ENSP00000356886:p.Arg260Trp					C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron	p.R260W	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	898	-			260					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.778C>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		0.502	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		4	352	0	0	0	1	0	4	352				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		8	1050	0	0	0	1	0	8	1050				
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7578538T>A	ENST00000269305.4	-	5	581	c.392A>T	c.(391-393)aAc>aTc	p.N131I	TP53_ENST00000420246.2_Missense_Mutation_p.N131I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAACATCTTGTTGAGGGCAGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)	breast(8)|central_nervous_system(7)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|liver(4)|lung(3)|adrenal_gland(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|stomach(1)|biliary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(391-393)aAc>aTc	Other conserved DNA damage response genes	tumor protein p53							46.0	46.0	46.0					17																	7578538		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578538T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.392A>T	17.37:g.7578538T>A	ENSP00000269305:p.Asn131Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_Missense_Mutation_p.N131I	p.N131I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	524	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	131		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.392A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405466	0.83230	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.998;0.992;0.974;0.999;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-30.8858	13.8301	0.63375	0.0:0.0:0.0:1.0	.	92;131;131;38;131;131;131	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	131;131;131;131;131;131;120;38;38;131	ENSP00000410739:N131I;ENSP00000352610:N131I;ENSP00000269305:N131I;ENSP00000398846:N131I;ENSP00000391127:N131I;ENSP00000391478:N131I;ENSP00000423862:N38I;ENSP00000424104:N131I	ENSP00000269305:N131I	N	-	2	0	TP53	7519263	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	123	0	0	0	1	0	47	123				
NCKAP5	344148	broad.mit.edu	37	2	133541011	133541011	+	Missense_Mutation	SNP	C	C	T	rs371372513		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:133541011C>T	ENST00000409261.1	-	14	3746	c.3373G>A	c.(3373-3375)Gcc>Acc	p.A1125T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.							p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1125S(1)	kidney(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3373-3375)Gcc>Acc		NCK-associated protein 5							157.0	164.0	162.0					2																	133541011		2094	4227	6321	SO:0001583	missense	344148						protein binding	g.chr2:133541011C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3373G>A	2.37:g.133541011C>T	ENSP00000387128:p.Ala1125Thr					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000409213.1_Intron	p.A1125T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3746	-			1125			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3373G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	1.009	-0.688367	0.03328	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09723	2.95;2.95	5.24	1.46	0.22682	.	0.992366	0.08158	N	0.988883	T	0.03915	0.0110	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	10	0.20046	T	0.44	.	1.7347	0.02939	0.5677:0.1727:0.095:0.1646	.	1125	O14513	NCKP5_HUMAN	T	1125	ENSP00000387128:A1125T;ENSP00000380603:A1125T	ENSP00000380603:A1125T	A	-	1	0	NCKAP5	133257481	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.091000	0.17302	-0.291000	0.09656	GCC		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	1036	0	0	0	1	0	7	1036				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	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.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		17	169	0	0	0	1	0	17	169				
ARMC3	219681	broad.mit.edu	37	10	23250963	23250963	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:23250963G>A	ENST00000298032.5	+	7	772	c.688G>A	c.(688-690)Gac>Aac	p.D230N	ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N|ARMC3_ENST00000376528.4_Intron	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	230						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATGCTAAGAGACAATCAAGG	0.368																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(688-690)Gac>Aac		armadillo repeat containing 3							76.0	69.0	72.0					10																	23250963		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23250963G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.688G>A	10.37:g.23250963G>A	ENSP00000298032:p.Asp230Asn					ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N	p.D230N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			7	772	+			230					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.688G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478799	0.63849	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.19105	2.17;2.17;2.17	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.258007	0.43747	D	0.000526	T	0.22322	0.0538	L	0.38531	1.155	0.80722	D	1	B;B	0.28713	0.07;0.22	B;B	0.28991	0.055;0.097	T	0.02026	-1.1227	10	0.48119	T	0.1	-1.008	19.746	0.96252	0.0:0.0:1.0:0.0	.	230;230	Q5W041-4;Q5W041	.;ARMC3_HUMAN	N	230;230;166;230	ENSP00000298032:D230N;ENSP00000386943:D230N;ENSP00000387288:D230N	ENSP00000298032:D230N	D	+	1	0	ARMC3	23290969	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	5.700000	0.68318	2.673000	0.90976	0.650000	0.86243	GAC		0.368	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		34	128	0	0	0	1	0	34	128				
OR2L2	26246	broad.mit.edu	37	1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483																																						ENST00000366479.2																			1	Substitution - Missense(1)	p.R226L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(676-678)cGc>cAc		olfactory receptor, family 2, subfamily L, member 2							245.0	216.0	226.0					1																	248202246		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202246G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>A	1.37:g.248202246G>A	ENSP00000355435:p.Arg226His					OR2L13_ENST00000366478.2_Intron	p.R226H	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	773	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.677G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.602	-0.828549	0.02734	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	N	0.775456	T	0.00144	0.0004	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.17979	0.02	T	0.07121	-1.0789	10	0.13470	T	0.59	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	H	226	ENSP00000355435:R226H	ENSP00000355435:R226H	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		7	778	0	0	0	1	0	7	778				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	76	0	0	0	1	0	21	76				
POM121L12	285877	broad.mit.edu	37	7	53104235	53104235	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:53104235G>T	ENST00000408890.4	+	1	887	c.871G>T	c.(871-873)Gct>Tct	p.A291S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	291										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGTCTGCTGGCCCCTT	0.607																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(871-873)Gct>Tct		POM121 transmembrane nucleoporin-like 12							42.0	46.0	45.0					7																	53104235		1997	4169	6166	SO:0001583	missense	285877							g.chr7:53104235G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.871G>T	7.37:g.53104235G>T	ENSP00000386133:p.Ala291Ser						p.A291S	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	887	+			291					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.871G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179487	0.21787	.	.	ENSG00000221900	ENST00000408890	T	0.26810	1.71	1.78	0.86	0.19042	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.12578	-1.0542	9	0.87932	D	0	.	6.0476	0.19768	0.0:0.3261:0.6739:0.0	.	291	Q8N7R1	P1L12_HUMAN	S	291	ENSP00000386133:A291S	ENSP00000386133:A291S	A	+	1	0	POM121L12	53071729	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-0.523000	0.06230	0.316000	0.23135	-0.304000	0.09214	GCT		0.607	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		55	330	1	0	5.5144e-22	1	6.02455e-22	55	330				
PABPC1L	80336	broad.mit.edu	37	20	43545506	43545506	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43545506G>A	ENST00000217073.2	+	3	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PABPC1L_ENST00000255136.3_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R166H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGAATGACCGCAAAGTGTGA	0.592																																						ENST00000255136.3																			1	Substitution - Missense(1)	p.R166H(1)	kidney(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGc>cAc		poly(A) binding protein, cytoplasmic 1-like							81.0	74.0	76.0					20																	43545506		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43545506G>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.497G>A	20.37:g.43545506G>A	ENSP00000217073:p.Arg166His					PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H	p.R166H	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			3	579	+			166			RRM 2.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.497G>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878785	0.72294	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70787	2.145	0.58432	D	0.999999	P	0.43431	0.807	B	0.28638	0.092	D	0.90597	0.4541	10	0.66056	D	0.02	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	166	Q4VXU2	PAP1L_HUMAN	H	166	ENSP00000217074:R166H;ENSP00000255136:R166H;ENSP00000445661:R166H;ENSP00000217073:R166H	ENSP00000217073:R166H	R	+	2	0	PABPC1L	42978920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.896000	0.87350	2.375000	0.81037	0.563000	0.77884	CGC		0.592	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			7	448	0	0	0	1	0	7	448				
COL5A1	1289	broad.mit.edu	37	9	137593148	137593148	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:137593148G>A	ENST00000371817.3	+	4	1037	c.623G>A	c.(622-624)gGc>gAc	p.G208D	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	208	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGTGTTTGGCACCCGGATC	0.552																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(622-624)gGc>gAc		collagen, type V, alpha 1							142.0	108.0	119.0					9																	137593148		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593148G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.623G>A	9.37:g.137593148G>A	ENSP00000360882:p.Gly208Asp					COL5A1_ENST00000464187.1_3'UTR	p.G208D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	1037	+		Myeloproliferative disorder(178;0.0341)	208			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.623G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075833	0.55646	.	.	ENSG00000130635	ENST00000371817	D	0.95918	-3.85	4.93	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.97870	0.9300	H	0.95260	3.645	0.58432	D	0.999994	P	0.52692	0.955	P	0.57204	0.815	D	0.98523	1.0624	10	0.87932	D	0	.	13.5115	0.61515	0.0763:0.0:0.9237:0.0	.	208	P20908	CO5A1_HUMAN	D	208	ENSP00000360882:G208D	ENSP00000360882:G208D	G	+	2	0	COL5A1	136732969	1.000000	0.71417	0.742000	0.31022	0.439000	0.31926	9.489000	0.97949	1.196000	0.43129	0.491000	0.48974	GGC		0.552	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	142	0	0	0	1	0	8	142				
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3379-3381)Cgc>Tgc		WD repeat and FYVE domain containing 3							131.0	132.0	132.0					4																	85715780		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715780G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C	p.R1127C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3786	-		Hepatocellular(203;0.114)	1127					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3379C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	WDFY3	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	641	0	0	0	1	0	6	641				
STAB1	23166	broad.mit.edu	37	3	52551596	52551596	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52551596G>A	ENST00000321725.6	+	44	4670	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1532	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGTTACAGCGGGGATGGCAT	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4594-4596)Ggg>Agg		stabilin 1							49.0	51.0	50.0					3																	52551596		2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551596G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4594G>A	3.37:g.52551596G>A	ENSP00000312946:p.Gly1532Arg						p.G1532R	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	44	4670	+			1532			EGF-like 12.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4594G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965659	0.74131	.	.	ENSG00000010327	ENST00000321725	D	0.93953	-3.32	4.81	4.81	0.61882	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.485095	0.20593	N	0.089304	D	0.96445	0.8840	M	0.81942	2.565	0.46336	D	0.998995	D	0.89917	1.0	D	0.72982	0.979	D	0.96640	0.9473	10	0.62326	D	0.03	.	14.9699	0.71226	0.0:0.0:1.0:0.0	.	1532	Q9NY15	STAB1_HUMAN	R	1532	ENSP00000312946:G1532R	ENSP00000312946:G1532R	G	+	1	0	STAB1	52526636	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	3.707000	0.54838	2.380000	0.81148	0.655000	0.94253	GGG		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		59	270	0	0	0	1	0	59	270				
RYR3	6263	broad.mit.edu	37	15	33954961	33954961	+	Missense_Mutation	SNP	C	C	T	rs371562140		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:33954961C>T	ENST00000389232.4	+	35	5300	c.5230C>T	c.(5230-5232)Cgg>Tgg	p.R1744W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1744	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1744R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGATGTTCGGCAGATCCT	0.552																																						ENST00000389232.4																			1	Substitution - coding silent(1)	p.R1744R(1)	lung(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5230-5232)Cgg>Tgg		ryanodine receptor 3		T	TRP/ARG	1,4261		0,1,2130	131.0	139.0	136.0		5230	3.5	0.9	15		136	0,8502		0,0,4251	no	missense	RYR3	NM_001036.3	101	0,1,6381	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging	1744/4871	33954961	1,12763	2131	4251	6382	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954961C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5230C>T	15.37:g.33954961C>T	ENSP00000373884:p.Arg1744Trp					RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5300	+		all_lung(180;7.18e-09)	1744			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5230C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720660	0.48728	2.35E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74421	-0.84;-0.84	5.41	3.54	0.40534	.	0.359807	0.23604	N	0.046403	T	0.74030	0.3663	L	0.38175	1.15	0.09310	N	0.999998	D;D	0.61697	0.988;0.99	P;P	0.57502	0.766;0.822	T	0.65030	-0.6267	10	0.87932	D	0	.	8.8635	0.35272	0.3151:0.6124:0.0:0.0724	.	1744;1744	Q15413-2;Q15413	.;RYR3_HUMAN	W	1744	ENSP00000373884:R1744W;ENSP00000399610:R1744W	ENSP00000354735:R1744W	R	+	1	2	RYR3	31742253	0.938000	0.31826	0.868000	0.34077	0.894000	0.52154	1.918000	0.40006	0.862000	0.35528	-0.119000	0.15052	CGG		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			63	331	0	0	0	1	0	63	331				
UGT1A7	54577	broad.mit.edu	37	2	234590864	234590864	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:234590864C>T	ENST00000373426.3	+	1	281	c.281C>T	c.(280-282)gCc>gTc	p.A94V	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	94					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ATGGTTTTTGCCGATGCTCGC	0.438																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(280-282)gCc>gTc									116.0	112.0	113.0					2																	234590864		2203	4300	6503	SO:0001583	missense	0							g.chr2:234590864C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.281C>T	2.37:g.234590864C>T	ENSP00000362525:p.Ala94Val					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.A94V	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	281	+		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)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.281C>T	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009282	0.19277	.	.	ENSG00000244122	ENST00000373426	T	0.59224	0.28	4.51	2.67	0.31697	.	.	.	.	.	T	0.32376	0.0827	N	0.11789	0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.008	T	0.22556	-1.0213	9	0.05721	T	0.95	.	8.4153	0.32668	0.0:0.7581:0.0:0.2419	.	94;94	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	V	94	ENSP00000362525:A94V	ENSP00000362525:A94V	A	+	2	0	UGT1A7	234255603	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-2.282000	0.01156	0.499000	0.27970	0.491000	0.48974	GCC		0.438	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		7	778	0	0	0	1	0	7	778				
PRPF8	10594	broad.mit.edu	37	17	1576724	1576724	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:1576724C>T	ENST00000572621.1	-	22	3849	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1195	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCAGGATGCGGCACTCGAA	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3583-3585)cGc>cAc		pre-mRNA processing factor 8							141.0	111.0	121.0					17																	1576724		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576724C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3584G>A	17.37:g.1576724C>T	ENSP00000460348:p.Arg1195His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H	p.R1195H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	22	3849	-			1195					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3584G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548538	0.96488	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95669	0.8722	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1195	Q6P2Q9	PRP8_HUMAN	H	1195	ENSP00000304350:R1195H	ENSP00000304350:R1195H	R	-	2	0	PRPF8	1523474	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.814000	0.86154	2.879000	0.98667	0.650000	0.86243	CGC		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	305	0	0	0	1	0	5	305				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		12	1363	0	0	0	1	0	12	1363				
SPHKAP	80309	broad.mit.edu	37	2	228855826	228855826	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:228855826G>T	ENST00000392056.3	-	11	4895	c.4849C>A	c.(4849-4851)Cca>Aca	p.P1617T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1617						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGACACTCTGGCTCCAGGTCA	0.557																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4849-4851)Cca>Aca		SPHK1 interactor, AKAP domain containing							47.0	49.0	48.0					2																	228855826		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228855826G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4849C>A	2.37:g.228855826G>T	ENSP00000375909:p.Pro1617Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	p.P1617T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	11	4895	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1617					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4849C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053706	0.75960	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05996	3.36;3.36	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.167578	0.52532	D	0.000066	T	0.24353	0.0590	M	0.78049	2.395	0.48341	D	0.999631	D;D	0.76494	0.999;0.999	D;D	0.74674	0.961;0.984	T	0.00043	-1.2223	10	0.44086	T	0.13	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	1617;1588	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1617;1588	ENSP00000375909:P1617T;ENSP00000339886:P1588T	ENSP00000339886:P1588T	P	-	1	0	SPHKAP	228564070	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.992000	0.63889	2.941000	0.99782	0.655000	0.94253	CCA		0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		66	260	1	0	7.82978e-24	1	8.59197e-24	66	260				
CPNE4	131034	broad.mit.edu	37	3	131442441	131442441	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:131442441C>T	ENST00000512055.1	-	7	2335	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y			Q96A23	CPNE4_HUMAN	copine IV	70	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGGTTTATGCAGGTGCGAAT	0.418																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(208-210)tGc>tAc		copine IV							111.0	111.0	111.0					3																	131442441		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131442441C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.209G>A	3.37:g.131442441C>T	ENSP00000421705:p.Cys70Tyr					CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y	p.C70Y			Q96A23	CPNE4_HUMAN			7	2335	-			70			C2 1.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.209G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404858	0.62288	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.120680	0.85682	D	0.000000	T	0.58524	0.2128	M	0.77616	2.38	0.49299	D	0.999775	B;B	0.30482	0.147;0.281	B;B	0.42495	0.221;0.389	T	0.61973	-0.6952	10	0.72032	D	0.01	-7.8453	19.1819	0.93627	0.0:1.0:0.0:0.0	.	88;70	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Y	70;70;88;70;88;70;70;70	ENSP00000421705:C70Y;ENSP00000411904:C70Y;ENSP00000424853:C88Y;ENSP00000423811:C70Y;ENSP00000421646:C88Y;ENSP00000425506:C70Y;ENSP00000427561:C70Y;ENSP00000421394:C70Y	ENSP00000411904:C70Y	C	-	2	0	CPNE4	132925131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.542000	0.85734	0.555000	0.69702	TGC		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		6	724	0	0	0	1	0	6	724				
NELFA	7469	broad.mit.edu	37	4	1993351	1993351	+	Missense_Mutation	SNP	G	G	A	rs376419751		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1993351G>A	ENST00000411638.2	-	2	317	c.302C>T	c.(301-303)cCg>cTg	p.P101L	NELFA_ENST00000382882.3_Missense_Mutation_p.P112L|NELFA_ENST00000542778.1_Intron	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	101					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCTGTGTCCGGAAAGGACTT	0.522																																						ENST00000382882.3																			0											c.(334-336)cCg>cTg		negative elongation factor complex member A		G	LEU/PRO	0,4406		0,0,2203	115.0	124.0	121.0		335	4.4	0.9	4		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	WHSC2	NM_005663.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	112/540	1993351	1,13005	2203	4300	6503	SO:0001583	missense	7469							g.chr4:1993351G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.302C>T	4.37:g.1993351G>A	ENSP00000399165:p.Pro101Leu					NELFA_ENST00000411638.1_Missense_Mutation_p.P101L|NELFA_ENST00000542778.1_Intron	p.P112L	NM_005663.4	NP_005654.3					2	1452	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707264|3.707264	0.68615|0.68615	0.0|0.0	1.16E-4|1.16E-4	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000411649	T;T;T;T|.	0.69926|.	1.63;-0.44;1.63;1.63|.	5.29|5.29	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	B|.	0.39027|.	0.288|.	T|T	0.76806|0.76806	-0.2823|-0.2823	10|5	0.41790|.	T|.	0.15|.	-16.7598|-16.7598	13.9996|13.9996	0.64424|0.64424	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	101|.	Q9H3P2|.	NELFA_HUMAN|.	L|W	112;105;101;117;31|85	ENSP00000372335:P112L;ENSP00000387647:P105L;ENSP00000399165:P101L;ENSP00000395761:P117L|.	ENSP00000372335:P112L|.	P|R	-|-	2|1	0|2	WHSC2|WHSC2	1963149|1963149	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.096000|0.096000	0.18686|0.18686	9.651000|9.651000	0.98493|0.98493	1.233000|1.233000	0.43693|0.43693	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.522	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		9	1134	0	0	0	1	0	9	1134				
FBXW2	26190	broad.mit.edu	37	9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(1177-1179)Cgg>Tgg		F-box and WD repeat domain containing 2							107.0	105.0	105.0					9																	123527025		1948	4154	6102	SO:0001583	missense	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123527025G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp					FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	p.R393W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			8	1364	-			393					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.1177C>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG		0.517	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			7	572	0	0	0	1	0	7	572				
DNAH3	55567	broad.mit.edu	37	16	20976524	20976524	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:20976524G>A	ENST00000261383.3	-	53	8681	c.8682C>T	c.(8680-8682)taC>taT	p.Y2894Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2894	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACGCGATCGTACACCTCCA	0.562																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8680-8682)taC>taT		dynein, axonemal, heavy chain 3							118.0	108.0	111.0					16																	20976524		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976524G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8682C>T	16.37:g.20976524G>A						DNAH3_ENST00000415178.1_3'UTR	p.Y2894Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8681	-			2894			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8682C>T	CCDS10594.1																																																																																				0.562	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		146	656	0	0	0	1	0	146	656				
ATL2	64225	broad.mit.edu	37	2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	480					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAACATGACCGCAAACAGTGT	0.408																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1438-1440)gCg>gTg		atlastin GTPase 2							131.0	118.0	123.0					2																	38525479		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525479G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1439C>T	2.37:g.38525479G>A	ENSP00000368237:p.Ala480Val					ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V	p.A480V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1440	-			480					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1439C>T	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796474	0.50208	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.31065	0.9	0.80722	D	1	P;B;P;B;B	0.49635	0.926;0.397;0.531;0.183;0.216	B;B;B;B;B	0.31495	0.115;0.062;0.131;0.08;0.05	D	0.91673	0.5352	10	0.18710	T	0.47	-14.909	19.0794	0.93175	0.0:0.0:1.0:0.0	.	309;462;462;480;480	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	480;309;309;309;462;480;462;309	ENSP00000368237:A480V;ENSP00000385446:A309V;ENSP00000384062:A309V;ENSP00000446192:A309V;ENSP00000333393:A462V;ENSP00000415336:A480V;ENSP00000390743:A462V;ENSP00000438938:A309V	ENSP00000333393:A462V	A	-	2	0	ATL2	38378983	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.583000	0.74053	2.746000	0.94184	0.591000	0.81541	GCG		0.408	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		6	411	0	0	0	1	0	6	411				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	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.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	285	0	0	0	1	0	9	285				
C3	718	broad.mit.edu	37	19	6714178	6714178	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6714178G>A	ENST00000245907.6	-	6	773	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	227					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCTCTTACCGTACTCCTTCA	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.e6+1		complement component 3							84.0	85.0	85.0					19																	6714178		2203	4300	6503	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714178G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.682+1C>T	19.37:g.6714178G>A							p.Y227_splice	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	6	773	-			227					A7E236	Splice_Site	SNP	ENST00000245907.6	37	c.682_splice	CCDS32883.1																																																																																				0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Silent	5	338	0	0	0	1	0	5	338				
ZNF721	170960	broad.mit.edu	37	4	436563	436563	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:436563T>C	ENST00000338977.5	-	2	1705	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	553					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)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTCTAAAGGTTTTGCCACAT	0.418																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1657-1659)Acc>Gcc		zinc finger protein 721							104.0	114.0	111.0					4																	436563		2137	4260	6397	SO:0001583	missense	170960							g.chr4:436563T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1657A>G	4.37:g.436563T>C	ENSP00000340524:p.Thr553Ala					ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron	p.T553A							2	1705	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1657A>G		.	.	.	.	.	.	.	.	.	.	T	0.544	-0.852463	0.02630	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.34667	1.35;1.35	1.28	-1.31	0.09230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34483	0.0899	L	0.33245	0.995	0.09310	N	0.999997	D;B;B	0.57257	0.979;0.006;0.005	D;B;B	0.71414	0.973;0.012;0.007	T	0.25882	-1.0119	9	0.02654	T	1	.	4.9128	0.13831	0.0:0.4041:0.0:0.5959	.	553;565;565	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	A	553;565	ENSP00000340524:T553A;ENSP00000428878:T565A	ENSP00000340524:T553A	T	-	1	0	ZNF721	426563	0.000000	0.05858	0.255000	0.24374	0.635000	0.38103	-0.952000	0.03881	-0.293000	0.08986	0.155000	0.16302	ACC		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		11	1484	0	0	0	1	0	11	1484				
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T	rs549833008		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.0		0.001	False		,,,				2504	0.0					ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1117-1119)acC>acT		G protein-coupled receptor 133							91.0	76.0	81.0					12																	131487822		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487822C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1119C>T	12.37:g.131487822C>T						GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T	p.T373T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1678	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		373					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1119C>T	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		92	354	0	0	0	1	0	92	354				
ZNF737	100129842	broad.mit.edu	37	19	20727843	20727843	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:20727843C>A	ENST00000427401.4	-	4	1260	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTATGAATTCTCTTATGTGT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1165-1167)aGa>aTa		zinc finger protein 737							58.0	59.0	59.0					19																	20727843		692	1590	2282	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727843C>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1166G>T	19.37:g.20727843C>A	ENSP00000395733:p.Arg389Ile						p.R389I	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1260	-			389					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1166G>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	4.358	0.065965	0.08388	.	.	ENSG00000237440	ENST00000427401	T	0.24908	1.83	0.801	0.801	0.18679	.	.	.	.	.	T	0.17577	0.0422	L	0.42008	1.315	0.41837	D	0.9901	B	0.14805	0.011	B	0.12156	0.007	T	0.08534	-1.0717	9	0.45353	T	0.12	.	3.2387	0.06773	0.0:0.6498:0.0:0.3502	.	389	C9JHM3	.	I	389	ENSP00000395733:R389I	ENSP00000395733:R389I	R	-	2	0	ZNF737	20519683	0.000000	0.05858	0.724000	0.30704	0.726000	0.41606	1.028000	0.30128	0.170000	0.19704	0.173000	0.16961	AGA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	111	1	0	0.000602214	1	0.000609588	4	111				
TBL3	10607	broad.mit.edu	37	16	2024605	2024605	+	Missense_Mutation	SNP	C	C	T	rs573127986		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:2024605C>T	ENST00000568546.1	+	5	432	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGCGTTACCCGCCTGTGGAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0				Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(304-306)Cgc>Tgc		transducin (beta)-like 3							30.0	33.0	32.0					16																	2024605		2198	4298	6496	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024605C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.304C>T	16.37:g.2024605C>T	ENSP00000454836:p.Arg102Cys						p.R102C	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			5	432	+			102					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.304C>T	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674507	0.29693	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.53642	0.1809	M	0.86651	2.83	0.80722	D	1	P	0.42757	0.789	B	0.25614	0.062	T	0.60949	-0.7161	9	0.72032	D	0.01	-15.7473	10.7503	0.46205	0.0:0.8435:0.0:0.1565	.	102	Q12788	TBL3_HUMAN	C	102	.	ENSP00000331815:R102C	R	+	1	0	TBL3	1964606	0.998000	0.40836	0.556000	0.28293	0.678000	0.39670	3.772000	0.55325	0.505000	0.28104	-0.291000	0.09656	CGC		0.672	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		51	196	0	0	0	1	0	51	196				
ERBB2IP	55914	broad.mit.edu	37	5	65288599	65288599	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:65288599G>A	ENST00000284037.5	+	3	442	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	18					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CGCTGTCTACGAGGGGAAGAG	0.363																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(52-54)cGa>cAa		erbb2 interacting protein							135.0	134.0	134.0					5																	65288599		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65288599G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.53G>A	5.37:g.65288599G>A	ENSP00000284037:p.Arg18Gln					ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q	p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	3	442	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	18					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.53G>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516152	0.96402	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40476	1.23;1.23;1.39;1.23;1.42;1.03;1.3;1.22;1.26;1.03	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.85130	0.922;0.997;0.934;0.996;0.99;0.992;0.983;0.994	T	0.64437	-0.6408	10	0.66056	D	0.02	.	18.6235	0.91330	0.0:0.0:1.0:0.0	.	18;18;18;18;18;18;18;18	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	18	ENSP00000284037:R18Q;ENSP00000370330:R18Q;ENSP00000397833:R18Q;ENSP00000370326:R18Q;ENSP00000370323:R18Q;ENSP00000370322:R18Q;ENSP00000370325:R18Q;ENSP00000422766:R18Q;ENSP00000426632:R18Q;ENSP00000422015:R18Q	ENSP00000284037:R18Q	R	+	2	0	ERBB2IP	65324355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.388000	0.81334	0.655000	0.94253	CGA		0.363	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		87	403	0	0	0	1	0	87	403				
USP2	9099	broad.mit.edu	37	11	119230302	119230302	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119230302C>A	ENST00000260187.2	-	4	1188	c.894G>T	c.(892-894)agG>agT	p.R298S	USP2_ENST00000525735.1_Missense_Mutation_p.R89S|USP2_ENST00000455332.2_Missense_Mutation_p.R55S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	298	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCATGTAGAGCCTCTGGAGGC	0.582																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(892-894)agG>agT		ubiquitin specific peptidase 2							99.0	84.0	89.0					11																	119230302		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119230302C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.894G>T	11.37:g.119230302C>A	ENSP00000260187:p.Arg298Ser					USP2_ENST00000455332.2_Missense_Mutation_p.R55S|USP2_ENST00000525735.1_Missense_Mutation_p.R89S	p.R298S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	4	1188	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	298					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.894G>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811636	0.32053	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.29655	1.56;1.56;1.56	5.28	2.31	0.28768	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196121	0.52532	D	0.000067	T	0.17109	0.0411	N	0.25201	0.72	0.27590	N	0.949293	B;B;B	0.26483	0.15;0.048;0.0	B;B;B	0.28991	0.097;0.057;0.004	T	0.12760	-1.0535	10	0.34782	T	0.22	-7.6172	3.7498	0.08562	0.1619:0.4776:0.0:0.3605	.	55;298;89	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	S	55;298;45;89	ENSP00000407842:R55S;ENSP00000260187:R298S;ENSP00000436952:R89S	ENSP00000260187:R298S	R	-	3	2	USP2	118735512	0.993000	0.37304	0.995000	0.50966	0.905000	0.53344	1.262000	0.32992	0.339000	0.23719	-0.345000	0.07892	AGG		0.582	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	235	1	0	0.150653	1	0.151878	4	235				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			23	57						23	57	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	354						8	354	---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524778	26524778	+	Splice_Site	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.e6-1		cation channel, sperm associated 4							297.0	312.0	307.0					1																	26524778		2203	4300	6503	SO:0001630	splice_region_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524778delT	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.679-1T>-	1.37:g.26524778delT							p.V227_splice	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	747	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	227					A1A4W6|Q5VY71	Splice_Site	DEL	ENST00000456354.2	37	c.678_splice	CCDS30645.1																																																																																				0.488	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	Frame_Shift_Del	8	2302						8	2302	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	840						7	840	---	---	---	---
DMRTB1	63948	broad.mit.edu	37	1	53930351	53930353	+	In_Frame_Del	DEL	GCC	GCC	-	rs75818218|rs566504124|rs147307088|rs375544915	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:53930351_53930353delGCC	ENST00000371445.3	+	3	847_849	c.792_794delGCC	c.(790-795)ctgccg>ctg	p.P270del	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	270	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.67																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(790-795)ctg>ct		DMRT-like family B with proline-rich C-terminal, 1																																				SO:0001651	inframe_deletion	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930351_53930353delGCC	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.792_794delGCC	1.37:g.53930360_53930362delGCC	ENSP00000360500:p.Pro270del					DMRTB1_ENST00000463126.1_3'UTR	p.LP264del	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			3	847_849	+			264			Pro-rich.		Q96SD2	In_Frame_Del	DEL	ENST00000371445.3	37	c.792_794delGCC	CCDS581.1																																																																																				0.670	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			7	367						7	367	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		8	507						8	507	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		8	325						8	325	---	---	---	---
SLC44A3	126969	broad.mit.edu	37	1	95357932	95357932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:95357932delT	ENST00000271227.6	+	14	1818	c.1716delT	c.(1714-1716)gctfs	p.A572fs	SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	572					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATTGGTAGCTTTTTTTGCCT	0.423																																						ENST00000271227.6																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)	large_intestine(4)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1714-1716)gcfs		solute carrier family 44, member 3	Choline(DB00122)						291.0	283.0	286.0					1																	95357932		2203	4300	6503	SO:0001589	frameshift_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95357932delT	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1716delT	1.37:g.95357932delT	ENSP00000271227:p.Ala572fs					SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs	p.A572fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	14	1818	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	572					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Frame_Shift_Del	DEL	ENST00000271227.6	37	c.1716delT	CCDS44176.1																																																																																				0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		7	918						7	918	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148012532	148012532	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:148012532delT	ENST00000369219.1	-	12	1443	c.1427delA	c.(1426-1428)aagfs	p.K476fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCCAACATGCTTTTCCTCCAA	0.443																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)agfs		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012532		870	1958	2828	SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012532delT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1427delA	1.37:g.148012532delT	ENSP00000358221:p.Lys476fs						p.K476fs			Q5TI25	NBPFE_HUMAN			12	1443	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1427delA																																																																																					0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		7	5455						7	5455	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)cgg>c		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del	p.HR729del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		7	456						7	456	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gccfs		papillary renal cell carcinoma (translocation-associated)				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	p.A377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1402_1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		7	481						7	481	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308																																						ENST00000443515.1																			0																																																			0							g.chr1:204363980delA																													1.37:g.204363980delA														0	146	+									RNA	DEL	ENST00000443515.1	37																																																																																						0.308	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			8	38						8	38	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	817						7	817	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232940983	232940984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:232940983_232940984insA	ENST00000418460.1	+	1	341_342	c.214_215insA	c.(214-216)caafs	p.Q72fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AGGTTGGTGGCAAAAAACGGCT	0.45																																						ENST00000418460.1																			0											c.(214-216)aaafs		microtubule-associated protein 10																																				SO:0001589	frameshift_variant	54627							g.chr1:232940983_232940984insA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.220dupA	1.37:g.232940989_232940989dupA	ENSP00000403208:p.Gln72fs						p.K72fs	NM_019090.2	NP_061963.2					1	341_342	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	ENST00000418460.1	37	c.214_215insA	CCDS44334.1																																																																																				0.450	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		92	533						92	533	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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		8	452						8	452	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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		14	539						14	539	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	458						7	458	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1876-1878)agfs		NLR family, CARD domain containing 4							156.0	171.0	166.0					2																	32475056		2203	4300	6503	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475056delT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1877delA	2.37:g.32475056delT	ENSP00000385090:p.Lys626fs					NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs	p.K626fs			Q9NPP4	NLRC4_HUMAN			5	2365	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		626					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.1877delA	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		8	1204						8	1204	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:37454908delT	ENST00000234170.5	-	2	1573	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	476					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1426-1428)aafs		CCAAT/enhancer binding protein (C/EBP), zeta							51.0	52.0	52.0					2																	37454908		2203	4300	6503	SO:0001589	frameshift_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454908delT	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1428delA	2.37:g.37454908delT	ENSP00000234170:p.Lys476fs						p.K476fs	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1573	-		all_hematologic(82;0.21)	476					Q8NE75	Frame_Shift_Del	DEL	ENST00000234170.5	37	c.1428delA	CCDS1787.1																																																																																				0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	300						8	300	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	517						7	517	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452623	43452623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:43452623delC	ENST00000282388.3	-	2	613	c.320delG	c.(319-321)ggcfs	p.G109fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	109	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGTGCCGCCGCCCCCCGACGG	0.692																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(319-321)gcfs		ZFP36 ring finger protein-like 2							16.0	20.0	19.0					2																	43452623		2190	4297	6487	SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452623delC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.320delG	2.37:g.43452623delC	ENSP00000282388:p.Gly109fs					THADA_ENST00000330266.7_Intron	p.G109fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	613	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	109			Poly-Gly.		Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	37	c.320delG	CCDS1811.1																																																																																				0.692	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		20	117						20	117	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55.0	55.0	55.0					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		7	329						7	329	---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61710179	61710181	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:61710179_61710181delCTT	ENST00000401558.2	-	22	3450_3452	c.2723_2725delAAG	c.(2722-2727)gaagct>gct	p.E908del	XPO1_ENST00000406957.1_In_Frame_Del_p.E908del|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|XPO1_ENST00000404992.2_In_Frame_Del_p.E908del|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	908					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAGCTGCAGCTTCTTCTTGTGC	0.345			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2722-2727)gct>g		exportin 1 (CRM1 homolog, yeast)																																				SO:0001651	inframe_deletion	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61710179_61710181delCTT	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2723_2725delAAG	2.37:g.61710185_61710187delCTT	ENSP00000384863:p.Glu908del					XPO1_ENST00000406957.1_In_Frame_Del_p.EA908del|XPO1_ENST00000404992.2_In_Frame_Del_p.EA908del|RP11-355B11.2_ENST00000578974.2_RNA	p.EA908del	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		22	3450_3452	-			908					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	In_Frame_Del	DEL	ENST00000401558.2	37	c.2723_2725delAAG	CCDS33205.1																																																																																				0.345	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		8	400						8	400	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		10	425						10	425	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			18	29						18	29	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	586						11	586	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		8	522						8	522	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435575.1_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435575.1_Intron	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	968						8	968	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	245						7	245	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		10	768						10	768	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		12	600						12	600	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		7	185						7	185	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gacfs	p.D228fs	FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gafs		family with sequence similarity 193, member A							199.0	170.0	180.0					4																	2661593		2203	4300	6503	SO:0001589	frameshift_variant	8603							g.chr4:2661593delC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.684delC	4.37:g.2661593delC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs	p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.684delC	CCDS58875.1																																																																																				0.522	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		7	541						7	541	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	508						8	508	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.640	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	313						8	313	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_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_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_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		7	439						7	439	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	5'UTR	DEL	GCC	GCC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:105412465_105412467delGCC	ENST00000426831.1	-	0	0_2				AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_In_Frame_Del_p.G165del			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(493-495)del		CXXC finger protein 4																																				SO:0001623	5_prime_UTR_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412465_105412467delGCC		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.-15GGC>-	4.37:g.105412474_105412476delGCC						AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR	p.G165del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	943_945	-			0			Interaction with DVL1 (By similarity).			In_Frame_Del	DEL	ENST00000426831.1	37	c.493_495delGGC																																																																																					0.695	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		14	512						14	512	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	282						9	282	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		10	539						10	539	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	1095						9	1095	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		11	248						11	248	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230590	140230590	+	Intron	DEL	T	T	-	rs17844337		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_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)			ATCCAGCAGATTTTTTTTCTG	0.279																																					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.(2509-2511)atfs									66.0	77.0	74.0					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	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+116T>-	5.37:g.140230590delT						PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	1181						7	1181	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		9	1696						9	1696	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		10	424						10	424	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	1461						9	1461	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111880692	111880693	+	Frame_Shift_Ins	INS	-	-	T	rs186097801	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:111880692_111880693insT	ENST00000340026.6	-	10	2234_2235	c.1640_1641insA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N538fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGCAGGATGTTTTTTTTATT	0.55																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)aatfs		TRAF3 interacting protein 2			,,,	0,4264		0,0,2132					,,,	2.5	1.0			119	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	TRAF3IP2	NM_147686.2,NM_001164283.1,NM_001164282.1,NM_001164281.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880692_111880693insT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1641dupA	6.37:g.111880700_111880700dupT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091_2092	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37	c.1613_1614insA																																																																																					0.550	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			8	587						8	587	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	790						7	790	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		10	621						10	621	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	655						7	655	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637																																						ENST00000355585.4																			1	Deletion - Frameshift(1)	p.P1113fs*5(1)	large_intestine(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3331-3333)ccfs		synaptojanin 2							31.0	35.0	34.0					6																	158508009		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158508009delC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs					SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	23	3406	+			1114			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.3331delC	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			8	239						8	239	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		14	199						14	199	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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		7	28						7	28	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888988	+	RNA	INS	-	-	T	rs77289928|rs199834994|rs559767770		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:65888987_65888988insT	ENST00000442578.1	-	0	826																											Ctttttttttcttttttttttt	0.485																																						ENST00000442578.1																			0																																																			0							g.chr7:65888987_65888988insT																													7.37:g.65888998_65888998dupT														0	826	-									RNA	INS	ENST00000442578.1	37																																																																																						0.485	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			13	27						13	27	---	---	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-	rs368249579	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AACGAAGAGAAGAGAGAGAGAG	0.391														64	0.0127796	0.028	0.0014	5008	,	,		16418	0.004		0.002	False		,,,				2504	0.0204					ENST00000354926.4																			0											c.(742-747)gaagfs						136,3410		1,134,1638						5.1	1.0			34	290,7544		0,290,3627	no	frameshift	LUC7L2	NM_016019.3		1,424,5265	A1A1,A1R,RR		3.7018,3.8353,3.7434				426,10954				SO:0001589	frameshift_variant	0							g.chr7:139094365_139094366delAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.744_745delAG	7.37:g.139094375_139094376delAG	ENSP00000347005:p.Glu248fs					C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	p.EE248fs	NM_016019.3	NP_057103.2					7	1098_1099	+									Frame_Shift_Del	DEL	ENST00000354926.4	37	c.744_745delAG	CCDS43656.1																																																																																				0.391	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			7	144						7	144	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		13	367						13	367	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		12	350						12	350	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000520605.1_Intron|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	731						11	731	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	420						7	420	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	1798						8	1798	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_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_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	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		9	836						9	836	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)aagfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478																																						ENST00000242310.4																			2	Deletion - Frameshift(2)	p.K665fs*4(2)	large_intestine(2)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1993-1995)agfs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151.0	142.0	145.0					9																	32633584		2203	4300	6503	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633584delT	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1994delA	9.37:g.32633584delT	ENSP00000418379:p.Lys665fs					RP11-555J4.4_ENST00000430787.1_RNA	p.K665fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2083	-			665					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.1994delA	CCDS35003.1																																																																																				0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			13	682						13	682	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-	rs143611048	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.66														929	0.185503	0.1619	0.1268	5008	,	,		6334	0.3085		0.1213	False		,,,				2504	0.1984					ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-303)ctc>ct		histidine rich carboxyl terminus 1																																				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906584_35906586delCCA		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.300_302delCCA	9.37:g.35906593_35906595delCCA	ENSP00000346283:p.His105del						p.LH100del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	396_398	+			100			His-rich.		B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.300_302delCCA	CCDS35012.1																																																																																				0.660	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		14	145						14	145	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		18	802						18	802	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			19	55						19	55	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			19	285						19	285	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277201	135277202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:135277201_135277202insT	ENST00000334270.2	-	2	1046_1047	c.1007_1008insA	c.(1006-1008)aagfs	p.K336fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	336	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.51																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1006-1008)aaafs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277201_135277202insT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1008dupA	9.37:g.135277209_135277209dupT	ENSP00000333920:p.Lys336fs						p.K336fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1046_1047	-		Myeloproliferative disorder(178;0.204)	336			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.1007_1008insA	CCDS6948.1																																																																																				0.510	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		11	751						11	751	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95.0	106.0	102.0					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	1041						8	1041	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.65			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - Nonsense(2)|Deletion - Frameshift(1)	p.Q2417*(2)|p.P2416fs*11(1)	haematopoietic_and_lymphoid_tissue(3)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7243-7248)cag>c		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390945_139390947delGTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7244_7246delCAC	9.37:g.139390954_139390956delGTG	ENSP00000277541:p.Pro2415del	HNSCC(8;0.001)					p.PQ2415del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7319_7321	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2415			Poly-Pro.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.7244_7246delCAC	CCDS43905.1																																																																																				0.650	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	347						11	347	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		10	357						10	357	---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGAACAGCGAGGAGGAGGAGG	0.739																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1780-1782)del		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)		,,,,	95,4145		0,95,2025					,,,,	-5.9	1.0			22	193,8033		5,183,3925	no	coding,coding,coding,coding,coding	GRIN1	NM_021569.3,NM_007327.3,NM_001185091.1,NM_001185090.1,NM_000832.6	,,,,	5,278,5950	A1A1,A1R,RR		2.3462,2.2406,2.3103	,,,,	,,,,		288,12178				SO:0001651	inframe_deletion	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056884_140056886delGAG		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1780_1782delGAG	9.37:g.140056893_140056895delGAG	ENSP00000360616:p.Glu598del					GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del	p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	13	2877_2879	+	all_cancers(76;0.0926)		598					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	In_Frame_Del	DEL	ENST00000371561.3	37	c.1780_1782delGAG	CCDS7031.1																																																																																				0.739	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		8	235						8	235	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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	776						7	776	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70182520	70182521	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:70182520_70182521insA	ENST00000358410.3	-	15	2385_2386	c.2335_2336insT	c.(2335-2337)tcafs	p.S779fs	DNA2_ENST00000399180.2_Frame_Shift_Ins_p.S865fs|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	779	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AAATCTCCGTGAAAAAAAAAGG	0.406																																						ENST00000399180.2																			2	Deletion - Frameshift(2)	p.S779fs*6(1)|p.S865fs*6(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2593-2595)acgfs		DNA replication helicase/nuclease 2																																				SO:0001589	frameshift_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182520_70182521insA	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2336dupT	10.37:g.70182529_70182529dupA	ENSP00000351185:p.Ser779fs					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Frame_Shift_Ins_p.T779fs	p.T865fs			P51530	DNA2L_HUMAN			15	2592_2593	-			779					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Ins	INS	ENST00000358410.3	37	c.2593_2594insT																																																																																					0.406	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			9	210						9	210	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		8	436						8	436	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	1209						9	1209	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(883-885)aaafs	p.K295fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	295					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTTGAAAAGAAAAAAAAGAA	0.441																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.K294N(1)	breast(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(880-885)aaaaaafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558978_101558979insA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.890dupA	10.37:g.101558986_101558986dupA	ENSP00000359478:p.Lys295fs						p.KK294fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	995_996	+		Colorectal(252;0.234)	294					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Ins	INS	ENST00000370449.4	37	c.882_883insA	CCDS7484.1																																																																																				0.441	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	909						7	909	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(559-564)gcc>g		leucine zipper, putative tumor suppressor 2				12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763415_102763417delCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del					LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del	p.AS187del			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3623_3625	+			187			Required for centrosomal localization (By similarity).			In_Frame_Del	DEL	ENST00000370220.1	37	c.560_562delCCT	CCDS7507.1																																																																																				0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		8	1156						8	1156	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		11	1021						11	1021	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(874-876)aafs		cytoskeleton associated protein 5							163.0	173.0	169.0					11																	46829683		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46829683delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.876delA	11.37:g.46829683delT	ENSP00000432768:p.Lys292fs					CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs	p.K292fs			Q14008	CKAP5_HUMAN			8	922	-			292					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.876delA	CCDS31477.1																																																																																				0.363	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		8	1134						8	1134	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		7	945						7	945	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						ENST00000343597.3																			3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)	kidney(2)|ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(805-807)tcfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	998	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		21	268						21	268	---	---	---	---
RPLP0P2	113157	broad.mit.edu	37	11	61405017	61405019	+	RNA	DEL	CTG	CTG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:61405017_61405019delCTG	ENST00000496593.1	+	0	1621_1623					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		acagctgctcctgctgctgctgc	0.557																																						ENST00000496593.1																			0																																																			0							g.chr11:61405017_61405019delCTG	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405026_61405028delCTG								NR_002775.2						0	1621_1623	+									RNA	DEL	ENST00000496593.1	37																																																																																						0.557	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		7	197						7	197	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050548	119050548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119050548delC	ENST00000409109.1	+	7	2405	c.1818delC	c.(1816-1818)ggcfs	p.G606fs	NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	606	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCGTGGAGGGCCCCCGGCGCC	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1816-1818)ggfs		NLR family member X1							90.0	97.0	94.0					11																	119050548		2200	4295	6495	SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050548delC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1818delC	11.37:g.119050548delC	ENSP00000387334:p.Gly606fs					NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs	p.G606fs			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2405	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	606			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Del	DEL	ENST00000409109.1	37	c.1818delC	CCDS8416.1																																																																																				0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		7	926						7	926	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	231						8	231	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		11	494						11	494	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347514	56347514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:56347514delC	ENST00000331886.5	+	24	2624	c.2170delC	c.(2170-2172)cccfs	p.P725fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.P725fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.P725fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	725					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CATGGGCCCACCCCCCCGCTC	0.582																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2170-2172)ccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						100.0	94.0	96.0					12																	56347514		2203	4300	6503	SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347514delC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2170delC	12.37:g.56347514delC	ENSP00000328405:p.Pro725fs					DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.P725fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.P725fs	p.P725fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			24	2624	+			725					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Del	DEL	ENST00000331886.5	37	c.2170delC	CCDS8896.1																																																																																				0.582	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	613						7	613	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:56559113delG	ENST00000267064.4	-	26	3214	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.P1074fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			,,	47,38,3933		0,0,47,2,34,1926	35.0	41.0	39.0		,,	4.5	1.0	12		38	49,80,7671		2,0,45,9,62,3782	no	codingComplex,codingComplex,codingComplex	SMARCC2	NM_139067.2,NM_003075.3,NM_001130420.1	,,	2,0,92,11,96,5708	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6538,2.1155,1.8108	,,	,,	56559113	96,118,11604	2116	4167	6283	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559113delG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3128delC	12.37:g.56559113delG	ENSP00000267064:p.Pro1043fs					SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA	p.P1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.3221delC	CCDS8907.1																																																																																				0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			9	569						9	569	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	450						8	450	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:34398063delA	ENST00000380071.3	+	3	365	c.235delA	c.(235-237)aaafs	p.K81fs	RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	81					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(235-237)aafs		replication factor C (activator 1) 3, 38kDa			,	108,4134		12,84,2025	27.0	30.0	29.0		,	1.9	1.0	13		30	256,7956		39,178,3889	no	frameshift,frameshift	RFC3	NM_181558.2,NM_002915.3	,	51,262,5914	A1A1,A1R,RR		3.1174,2.546,2.9228	,	,	34398063	364,12090	2195	4285	6480	SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34398063delA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.235delA	13.37:g.34398063delA	ENSP00000369411:p.Lys81fs					RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	3	365	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	81					C9JU95|O15252|Q5W0E8	Frame_Shift_Del	DEL	ENST00000380071.3	37	c.235delA	CCDS9352.1																																																																																				0.269	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		11	137						11	137	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	639						9	639	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			9	335						9	335	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						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			10	779						10	779	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:35331422_35331423insT	ENST00000382422.2	-	2	546_547	c.219_220insA	c.(217-222)aaagcafs	p.A74fs	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.A74fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.A74fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	74	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(217-222)aacaagfs		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331422_35331423insT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.220dupA	14.37:g.35331430_35331430dupT	ENSP00000371859:p.Ala74fs					BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000553853.1_5'UTR	p.NK73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	786_787	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		73			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Ins	INS	ENST00000382422.2	37	c.219_220insA	CCDS9651.1																																																																																				0.426	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			11	916						11	916	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-	rs535011015		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2545-2547)ttfs		protein tyrosine phosphatase, non-receptor type 21							181.0	171.0	175.0					14																	88940113		2203	4300	6503	SO:0001589	frameshift_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940113delT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2545delA	14.37:g.88940113delT	ENSP00000452414:p.Ile849fs					PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2829	-			849						Frame_Shift_Del	DEL	ENST00000556564.1	37	c.2545delA	CCDS9884.1																																																																																				0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	519						8	519	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.450	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		8	402						8	402	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		10	178						10	178	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(154-159)caa>ca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001651	inframe_deletion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876828_89876830delTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del					POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	489_491	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		54			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	c.156_158delGCA	CCDS10350.1																																																																																				0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	130						7	130	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	541						8	541	---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	ALG1_ENST00000588623.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0.0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		7	165						7	165	---	---	---	---
TVP23A	780776	broad.mit.edu	37	16	10867202	10867203	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:10867202_10867203insA	ENST00000299866.8	-	5	711_712	c.420_421insT	c.(418-423)tttagcfs	p.S141fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	141						integral component of membrane (GO:0016021)											AATAAGGTGCTAAAAAAAAACA	0.446																																						ENST00000299866.8																			0											c.(418-423)ttgcacfs		trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)				2,3608		1,0,1804						4.6	1.0			74	4,7846		0,4,3921	no	frameshift	FAM18A	NM_001079512.2		1,4,5725	A1A1,A1R,RR		0.051,0.0554,0.0524				6,11454				SO:0001589	frameshift_variant	780776							g.chr16:10867202_10867203insA		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.421dupT	16.37:g.10867211_10867211dupA	ENSP00000299866:p.Ser141fs					TVP23A_ENST00000572980.1_5'UTR	p.LH140fs	NM_001079512.2	NP_001072980.1					5	711_712	-								B2RUV4|B7ZW18	Frame_Shift_Ins	INS	ENST00000299866.8	37	c.420_421insT	CCDS45408.1																																																																																				0.446	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		12	322						12	322	---	---	---	---
NPIPA1	9284	broad.mit.edu	37	16	15045828	15045829	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:15045828_15045829delGT	ENST00000328085.6	+	8	999_1000	c.999_1000delGT	c.(997-1002)gagtgtfs	p.C334fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	334	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CACCTCCCGAGTGTGTCTGCTC	0.455																																						ENST00000328085.6																			0											c.(997-1002)gagtfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045828_15045829delGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.999_1000delGT	16.37:g.15045832_15045833delGT	ENSP00000331843:p.Cys334fs					NPIPA1_ENST00000472413.1_3'UTR	p.EC333fs	NM_006985.2	NP_008916.2					8	999_1000	+								O15102	Frame_Shift_Del	DEL	ENST00000328085.6	37	c.999_1000delGT	CCDS10557.1																																																																																				0.455	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		8	1228						8	1228	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			8	199						8	199	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28913639	28913640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:28913639_28913640insC	ENST00000357084.3	+	17	2723_2724	c.2456_2457insC	c.(2455-2460)cgccccfs	p.RP819fs	ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.RP694fs|ATP2A1_ENST00000395503.4_Frame_Shift_Ins_p.RP819fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	819					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2455-2457)cccfs		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1																																				SO:0001589	frameshift_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913639_28913640insC		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2464dupC	16.37:g.28913647_28913647dupC	ENSP00000349595:p.Arg819fs					ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P819fs	p.P819fs	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			17	2640_2641	+			819					A8K5J9|B3KY17|O14984	Frame_Shift_Ins	INS	ENST00000357084.3	37	c.2456_2457insC	CCDS10643.1																																																																																				0.658	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		10	836						10	836	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		12	420						12	420	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67267852	67267852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:67267852delG	ENST00000258201.4	-	13	2001	c.1754delC	c.(1753-1755)cctfs	p.P587fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	587	FH1.|Poly-Pro.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.P585fs*43(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAGTGGGGGAGGGGGGGGTAC	0.622																																						ENST00000258201.4																			1	Deletion - Frameshift(1)	p.P585fs*43(1)	breast(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1753-1755)ctfs		formin homology 2 domain containing 1				50,48,4008		3,0,44,3,42,1961	9.0	11.0	11.0			1.3	1.0	16		10	110,94,7566		4,1,101,4,85,3690	no	codingComplex	FHOD1	NM_013241.2		7,1,145,7,127,5651	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6255,2.3868,2.5429			67267852	160,142,11574	2155	4160	6315	SO:0001589	frameshift_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67267852delG	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1754delC	16.37:g.67267852delG	ENSP00000258201:p.Pro587fs					FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs	p.P587fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	13	2001	-		Ovarian(137;0.0563)	587			FH1.|Poly-Pro.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Del	DEL	ENST00000258201.4	37	c.1754delC	CCDS10834.1																																																																																				0.622	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			7	174						7	174	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			12	325						12	325	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	458						7	458	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-	rs370078939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)caadel	p.Q253del				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	253	Pro-rich.					extracellular region (GO:0005576)											TCCTCCAACTCAACAACATTCTA	0.517																																						ENST00000429990.1																			0											c.(754-756)del		nuclear pore complex interacting protein family, member B15																																				SO:0001651	inframe_deletion	440348							g.chr16:74425400_74425402delCAA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.754_756delCAA	16.37:g.74425403_74425405delCAA	ENSP00000411140:p.Gln253del						p.Q253del							7	850_852	+								C9J9U8	In_Frame_Del	DEL	ENST00000429990.1	37	c.754_756delCAA																																																																																					0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		7	674						7	674	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		7	141						7	141	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	1171						10	1171	---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			8	268						8	268	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56056587_56056589delTGT	ENST00000581208.1	-	5	1102_1104	c.1062_1064delACA	c.(1060-1065)caacat>cat	p.Q354del	VEZF1_ENST00000584396.1_In_Frame_Del_p.Q345del	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1033-1038)cat>ca		vascular endothelial zinc finger 1				460,95,3709		10,1,439,6,82,1594						2.0	0.9			207	126,113,8013		0,1,125,12,88,3900	no	codingComplex	VEZF1	NM_007146.2		10,2,564,18,170,5494	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8963,13.0159,6.3439				586,208,11722				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056587_56056589delTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064delACA	17.37:g.56056596_56056598delTGT	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del	p.QH345del			Q14119	VEZF1_HUMAN			5	1123_1125	-			354			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1035_1037delACA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			42	1184						42	1184	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		8	364						8	364	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	499						9	499	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			8	658						8	658	---	---	---	---
THOC1	9984	broad.mit.edu	37	18	225118	225119	+	Frame_Shift_Ins	INS	-	-	G	rs368677132		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:225118_225119insG	ENST00000261600.6	-	14	1114_1115	c.1107_1108insC	c.(1105-1110)cccgatfs	p.D370fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	370					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTCTCCATCGGGGGGGTTTT	0.386																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1105-1110)ccatggfs		THO complex 1																																				SO:0001589	frameshift_variant	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225118_225119insG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1108dupC	18.37:g.225125_225125dupG	ENSP00000261600:p.Asp370fs						p.W370fs	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			14	1114_1115	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	370					B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Ins	INS	ENST00000261600.6	37	c.1107_1108insC	CCDS45820.1																																																																																				0.386	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	56						7	56	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28725666	28725666	+	Frame_Shift_Del	DEL	T	T	-	rs199684665		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:28725666delT	ENST00000257198.5	-	7	1108	c.847delA	c.(847-849)atcfs	p.I283fs	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Frame_Shift_Del_p.I283fs	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	283	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTTGTAAGATTTTATATTTC	0.413																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(847-849)tcfs		desmocollin 1							189.0	190.0	190.0					18																	28725666		2203	4300	6503	SO:0001589	frameshift_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725666delT	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.847delA	18.37:g.28725666delT	ENSP00000257198:p.Ile283fs					DSC1_ENST00000257198.5_Frame_Shift_Del_p.I283fs|RP11-408H20.2_ENST00000581836.1_RNA	p.I283fs	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1108	-			283			Cadherin 2.		Q9HB01	Frame_Shift_Del	DEL	ENST00000257198.5	37	c.847delA	CCDS11894.1																																																																																				0.413	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		95	365						95	365	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-	rs527645784	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557														27	0.00539137	0.0151	0.0	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0072					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(481-483)del		CXXC finger protein 1																																				SO:0001651	inframe_deletion	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812275_47812277delCTG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.481_483delCAG	18.37:g.47812284_47812286delCTG	ENSP00000285106:p.Gln161del					CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1195_1197	-			161					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Del	DEL	ENST00000285106.6	37	c.481_483delCAG	CCDS11945.1																																																																																				0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		9	228						9	228	---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1231033	1231034	+	Intron	INS	-	-	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:1231033_1231034insG	ENST00000382477.2	-	9	1489				C19orf26_ENST00000590083.1_Frame_Shift_Ins_p.P407fs|C19orf26_ENST00000215376.6_Frame_Shift_Ins_p.P401fs			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGCCTAGGGGGGGGCGA	0.708										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1219-1221)cagfs		chromosome 19 open reading frame 26																																				SO:0001627	intron_variant	255057					integral to membrane		g.chr19:1231033_1231034insG	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1214+65->C	19.37:g.1231041_1231041dupG		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Frame_Shift_Ins_p.Q401fs|C19orf26_ENST00000382477.2_Intron	p.Q407fs			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1512_1513	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	437					O43385	Frame_Shift_Ins	INS	ENST00000382477.2	37	c.1220_1221insC																																																																																					0.708	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		7	247						7	247	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	252						7	252	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													GGGGGtGGG|GGGGGGGGG|GGGGGGGG|complex_deletion	5	0.000998403	0.0008	0.0	5008	,	,		12739	0.003		0.001	False		,,,				2504	0.0					ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(490-492)ctfs		DENN/MADD domain containing 1C							20.0	25.0	24.0					19																	6477251		1952	4130	6082	SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477251delG	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.491delC	19.37:g.6477251delG	ENSP00000370889:p.Pro164fs					DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR	p.P164fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			8	603	-			164			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Del	DEL	ENST00000381480.2	37	c.491delC	CCDS45938.1																																																																																				0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		8	233						8	233	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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		11	391						11	391	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	p.D215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	1340						7	1340	---	---	---	---
RETN	56729	broad.mit.edu	37	19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	1027						7	1027	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-	rs142545494|rs549678051		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421																																						ENST00000593655.1																			0																																																			0							g.chr19:20359846_20359847delGT																													19.37:g.20359856_20359857delGT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.421	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			9	333						9	333	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	CTD-2540B15.10_ENST00000590117.1_RNA|WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527																																						ENST00000355868.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1360-1362)del		WD repeat domain 88																																				SO:0001651	inframe_deletion	126248							g.chr19:33666419_33666421delTCA	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1360_1362delTCA	19.37:g.33666428_33666430delTCA	ENSP00000348129:p.Ser458del					WDR88_ENST00000361680.2_3'UTR	p.S458del	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN			11	1436_1438	+	Esophageal squamous(110;0.137)		458			Poly-Ser.		Q8NEF8	In_Frame_Del	DEL	ENST00000355868.3	37	c.1360_1362delTCA	CCDS12429.1																																																																																				0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		9	833						9	833	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		10	179						10	179	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	842						7	842	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		15	348						15	348	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	600						7	600	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		11	397						11	397	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	505						7	505	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32508274	32508274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:32508274delT	ENST00000286827.3	-	24	4331	c.3860delA	c.(3859-3861)aagfs	p.K1287fs	TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1287	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTGGTTCCTTTTTCCACTT	0.483																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3859-3861)agfs		T-cell lymphoma invasion and metastasis 1							108.0	103.0	105.0					21																	32508274		2203	4300	6503	SO:0001589	frameshift_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32508274delT		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3860delA	21.37:g.32508274delT	ENSP00000286827:p.Lys1287fs					TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs	p.K1287fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			24	4331	-			1287			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Frame_Shift_Del	DEL	ENST00000286827.3	37	c.3860delA	CCDS13609.1																																																																																				0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		8	687						8	687	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	19						8	19	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		8	320						8	320	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73072090	73072091	+	lincRNA	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:73072090_73072091insA	ENST00000429829.1	-	0	497_498					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATGGGCTAAGGAAAAAAAAATA	0.465																																						ENST00000429829.1																			0																																																			0							g.chrX:73072090_73072091insA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072099_73072099dupA								NR_001564.2						0	497_498	-									RNA	INS	ENST00000429829.1	37																																																																																						0.465	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		7	64						7	64	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74649035	74649036	+	Splice_Site	INS	-	-	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:74649035_74649036insA	ENST00000373367.3	-	7	713		c.e7-2		ZDHHC15_ENST00000541184.1_Splice_Site|ZDHHC15_ENST00000373361.3_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15						establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTATTAACCCTAAAAAAAAAGA	0.366													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	3	0.000794702	0.0008	0.0014	3775	,	,		13814	0.0		0.001	False		,,,				2504	0.0					ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.e6-2		zinc finger, DHHC-type containing 15																																				SO:0001630	splice_region_variant	158866					integral to membrane	zinc ion binding	g.chrX:74649035_74649036insA	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.483-2->T	X.37:g.74649044_74649044dupA						ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Intron		NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			6	933	-								B3KVG7|Q3SY30|Q6UWH3	Splice_Site	INS	ENST00000373367.3	37		CCDS14430.1																																																																																				0.366	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	Intron	7	202						7	202	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	288						7	288	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		11	260						11	260	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	419						8	419	---	---	---	---
