#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FBXO2	26232	broad.mit.edu	37	1	11708856	11708856	+	Silent	SNP	C	C	T	rs141266599	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:11708856C>T	ENST00000354287.4	-	6	1127	c.786G>A	c.(784-786)ccG>ccA	p.P262P	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	262	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGACGCCCGGCCCGTAGT	0.672													C|||	3	0.000599042	0.0	0.0029	5008	,	,		13401	0.0		0.001	False		,,,				2504	0.0					uc001asj.2		NA																	0					0						c.(784-786)CCG>CCA		F-box only protein 2		C		1,4405	2.1+/-5.4	0,1,2202	54.0	63.0	60.0		786	-9.0	0.9	1	dbSNP_134	60	30,8570	19.8+/-62.0	0,30,4270	no	coding-synonymous	FBXO2	NM_012168.5		0,31,6472	TT,TC,CC		0.3488,0.0227,0.2384		262/297	11708856	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11708856C>T	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.786G>A	1.37:g.11708856C>T						FBXO2_uc009vna.2_Silent_p.P265P	p.P262P	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	6	1128	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	262			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	c.786G>A	CCDS130.1																																																																																				0.672	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		8	93	0	0	0	0	8	93				
IQGAP3	128239	broad.mit.edu	37	1	156509200	156509200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156509200G>A	ENST00000361170.2	-	25	3032	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1008	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAACAGCTGGAGCAGGAGA	0.517																																						uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(3022-3024)CAG>TAG		IQ motif containing GTPase activating protein 3							54.0	55.0	55.0					1																	156509200		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509200G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3022C>T	1.37:g.156509200G>A	ENSP00000354451:p.Gln1008*						p.Q1008*	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			25	3097	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1008			Ras-GAP.		Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.3022C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	42	9.745275	0.99253	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.8	4.8	0.61643	.	0.064020	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6253	11.7753	0.51983	0.0:0.0:0.8241:0.1759	.	.	.	.	X	1008	.	ENSP00000354451:Q1008X	Q	-	1	0	IQGAP3	154775824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.357000	0.52277	2.482000	0.83794	0.655000	0.94253	CAG		0.517	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		7	19	0	0	0	0	7	19				
IQGAP3	128239	broad.mit.edu	37	1	156513967	156513967	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156513967G>A	ENST00000361170.2	-	21	2447	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	813	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTGCAGACGCCTCAGGTAT	0.592																																						uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(2437-2439)CGT>TGT		IQ motif containing GTPase activating protein 3							131.0	115.0	120.0					1																	156513967		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156513967G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2437C>T	1.37:g.156513967G>A	ENSP00000354451:p.Arg813Cys						p.R813C	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			21	2512	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		813			IQ 3.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2437C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838274	0.71373	.	.	ENSG00000183856	ENST00000361170	T	0.03272	3.99	5.03	3.01	0.34805	.	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	M	0.83774	2.66	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.14309	-1.0477	10	0.87932	D	0	-1.7421	8.0018	0.30301	0.09:0.0:0.7154:0.1945	.	813	Q86VI3	IQGA3_HUMAN	C	813	ENSP00000354451:R813C	ENSP00000354451:R813C	R	-	1	0	IQGAP3	154780591	0.985000	0.35326	0.995000	0.50966	0.982000	0.71751	1.830000	0.39131	1.362000	0.46000	0.561000	0.74099	CGT		0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		16	89	0	0	0	0	16	89				
RSU1	6251	broad.mit.edu	37	10	16794565	16794565	+	Missense_Mutation	SNP	G	G	A	rs200148474		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr10:16794565G>A	ENST00000377921.3	-	6	872	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	RSU1_ENST00000345264.5_Missense_Mutation_p.R191C|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.R138C			Q15404	RSU1_HUMAN	Ras suppressor protein 1	191					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ACGGTGAGGCGGTTCCCCTGA	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19984	0.0		0.0	False		,,,				2504	0.0					uc001iok.2		NA																	0				central_nervous_system(1)	1						c.(571-573)CGC>TGC		ras suppressor protein 1 isoform 2							117.0	112.0	114.0					10																	16794565		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794565G>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.571C>T	10.37:g.16794565G>A	ENSP00000367154:p.Arg191Cys					RSU1_uc001iol.2_Missense_Mutation_p.R191C|RSU1_uc001iom.2_Missense_Mutation_p.R138C|RSU1_uc001ion.2_Missense_Mutation_p.R191C	p.R191C	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	6	873	-			191			LRR 7.		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.571C>T	CCDS7112.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.20	3.055031	0.55325	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.17054	2.3;2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	T	0.08534	-1.0717	10	0.87932	D	0	-6.0234	13.8205	0.63318	0.0:0.0:0.847:0.153	.	191;191	B0YJ73;Q15404	.;RSU1_HUMAN	C	191;191;138	ENSP00000339521:R191C;ENSP00000367154:R191C	ENSP00000339521:R191C	R	-	1	0	RSU1	16834571	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.662000	0.61525	2.471000	0.83476	0.585000	0.79938	CGC		0.463	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		21	84	0	0	0	0	21	84				
OR52J3	119679	broad.mit.edu	37	11	5068241	5068241	+	Silent	SNP	C	C	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:5068241C>G	ENST00000380370.1	+	1	486	c.486C>G	c.(484-486)gtC>gtG	p.V162V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCATGGTCTATCTTATCT	0.453																																						uc010qyv.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(484-486)GTC>GTG		olfactory receptor, family 52, subfamily J,							188.0	136.0	154.0					11																	5068241		2201	4298	6499	SO:0001819	synonymous_variant	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068241C>G	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.486C>G	11.37:g.5068241C>G							p.V162V	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	486	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	162			Helical; Name=4; (Potential).		Q6IFE4	Silent	SNP	ENST00000380370.1	37	c.486C>G	CCDS31370.1																																																																																				0.453	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		16	35	0	0	0	0	16	35				
OR8J1	219477	broad.mit.edu	37	11	56128083	56128083	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:56128083G>A	ENST00000303039.3	+	1	393	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATGGCCTATGACCGCTATGT	0.488																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(361-363)GAC>AAC		olfactory receptor, family 8, subfamily J,							150.0	138.0	142.0					11																	56128083		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128083G>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.361G>A	11.37:g.56128083G>A	ENSP00000304060:p.Asp121Asn						p.D121N	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	361	+	Esophageal squamous(21;0.00448)		121			Cytoplasmic (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.361G>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743965	0.89663	.	.	ENSG00000172487	ENST00000303039	T	0.54071	0.59	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.80829	0.4698	H	0.95437	3.67	0.39557	D	0.969061	D	0.89917	1.0	D	0.97110	1.0	D	0.87682	0.2548	10	0.72032	D	0.01	.	16.6811	0.85291	0.0:0.0:1.0:0.0	.	121	Q8NGP2	OR8J1_HUMAN	N	121	ENSP00000304060:D121N	ENSP00000304060:D121N	D	+	1	0	OR8J1	55884659	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.199000	0.95003	2.358000	0.79984	0.643000	0.83706	GAC		0.488	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		10	80	0	0	0	0	10	80				
MYO7A	4647	broad.mit.edu	37	11	76872053	76872053	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:76872053A>G	ENST00000409709.3	+	12	1507	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	MYO7A_ENST00000409893.1_Missense_Mutation_p.D412G|MYO7A_ENST00000409619.2_Missense_Mutation_p.D401G|MYO7A_ENST00000458637.2_Missense_Mutation_p.D412G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	412	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGATTGTGGACAAGATCAAC	0.582																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(1234-1236)GAC>GGC		myosin VIIA isoform 1							94.0	102.0	99.0					11																	76872053		2038	4183	6221	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76872053A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1235A>G	11.37:g.76872053A>G	ENSP00000386331:p.Asp412Gly					MYO7A_uc010rsl.1_Missense_Mutation_p.D412G|MYO7A_uc010rsm.1_Missense_Mutation_p.D401G|MYO7A_uc001oyc.2_Missense_Mutation_p.D412G	p.D412G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			12	1507	+			412			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1235A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241921	0.39598	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.34	4.22	0.49857	Myosin head, motor domain (2);	0.206043	0.41823	D	0.000809	T	0.81341	0.4802	L	0.39898	1.24	0.40900	D	0.984146	B;B;B	0.26809	0.011;0.0;0.16	B;B;B	0.34038	0.035;0.005;0.174	T	0.75196	-0.3403	10	0.16420	T	0.52	.	10.5704	0.45196	0.9243:0.0:0.0757:0.0	.	412;412;412	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	G	412;412;412;401;411;411;334;411	ENSP00000386331:D412G;ENSP00000386689:D412G;ENSP00000392185:D412G;ENSP00000386635:D401G	ENSP00000345075:D334G	D	+	2	0	MYO7A	76549701	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.982000	0.70532	2.026000	0.59711	0.397000	0.26171	GAC		0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		4	16	0	0	0	0	4	16				
NARS2	79731	broad.mit.edu	37	11	78277240	78277240	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:78277240C>T	ENST00000281038.5	-	4	826	c.451G>A	c.(451-453)Gtt>Att	p.V151I	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	151					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAACCCAGAACGTTAGTCCTA	0.403																																						uc001ozi.2		NA																	0				ovary(2)	2						c.(451-453)GTT>ATT		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						112.0	111.0	111.0					11																	78277240		2200	4291	6491	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277240C>T	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.451G>A	11.37:g.78277240C>T	ENSP00000281038:p.Val151Ile					NARS2_uc010rsq.1_5'UTR	p.V151I	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			4	827	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		151					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.451G>A	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806312	0.31961	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.79352	-1.26;-1.26	5.13	2.24	0.28232	Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.458427	0.24445	N	0.038467	T	0.51702	0.1690	N	0.11427	0.14	0.47905	D	0.999541	B	0.06786	0.001	B	0.09377	0.004	T	0.25572	-1.0128	10	0.20046	T	0.44	-1.9353	3.5837	0.07963	0.1676:0.4914:0.0:0.3409	.	151	Q96I59	SYNM_HUMAN	I	151	ENSP00000281038:V151I;ENSP00000432240:V151I	ENSP00000281038:V151I	V	-	1	0	NARS2	77954888	0.000000	0.05858	0.183000	0.23137	0.764000	0.43329	0.333000	0.19768	0.679000	0.31345	-0.137000	0.14449	GTT		0.403	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		13	63	0	0	0	0	13	63				
A2ML1	144568	broad.mit.edu	37	12	8994102	8994102	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr12:8994102C>T	ENST00000299698.7	+	11	1398	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGAGACATCCGGTTGGAATG	0.473																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(1216-1218)TCC>TCT		alpha-2-macroglobulin-like 1 precursor							118.0	111.0	113.0					12																	8994102		1907	4113	6020	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8994102C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1218C>T	12.37:g.8994102C>T						A2ML1_uc001qva.1_5'Flank	p.S406S	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			11	1316	+			250						Silent	SNP	ENST00000299698.7	37	c.1218C>T	CCDS8596.2																																																																																				0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		20	50	0	0	0	0	20	50				
CPNE6	9362	broad.mit.edu	37	14	24545396	24545396	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:24545396G>A	ENST00000397016.2	+	12	1274	c.963G>A	c.(961-963)agG>agA	p.R321R	CPNE6_ENST00000216775.2_Silent_p.R321R|CPNE6_ENST00000537691.1_Silent_p.R376R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	321	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGACCCGAGGAGCAGCCAGT	0.627																																						uc001wll.2		NA																	0				skin(2)|ovary(1)	3						c.(961-963)AGG>AGA		copine 6							50.0	48.0	49.0					14																	24545396		2203	4300	6503	SO:0001819	synonymous_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24545396G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.963G>A	14.37:g.24545396G>A						CPNE6_uc010tnv.1_Silent_p.R376R|CPNE6_uc001wlm.2_Silent_p.R146R|CPNE6_uc001wln.2_5'UTR	p.R321R	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	11	1062	+			321			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.963G>A	CCDS9607.1																																																																																				0.627	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			11	53	0	0	0	0	11	53				
DENND4A	10260	broad.mit.edu	37	15	65959893	65959893	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr15:65959893T>A	ENST00000431932.2	-	28	5211	c.5003A>T	c.(5002-5004)cAt>cTt	p.H1668L	DENND4A_ENST00000443035.3_Missense_Mutation_p.H1711L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1668					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACAATTGGATGATGGTCCAC	0.388																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(5002-5004)CAT>CTT		DENN/MADD domain containing 4A isoform 2							112.0	108.0	109.0					15																	65959893		1883	4110	5993	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959893T>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5003A>T	15.37:g.65959893T>A	ENSP00000396830:p.His1668Leu					DENND4A_uc002api.2_Missense_Mutation_p.H1711L	p.H1668L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			28	5381	-			1668					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.5003A>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745857	0.69418	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.15952	2.41;2.38	5.47	5.47	0.80525	.	0.044219	0.85682	D	0.000000	T	0.28134	0.0694	M	0.83223	2.63	0.80722	D	1	B;B	0.23937	0.094;0.059	B;B	0.22386	0.028;0.039	T	0.08411	-1.0723	10	0.87932	D	0	.	15.8434	0.78868	0.0:0.0:0.0:1.0	.	1711;1668	E7EPL3;Q7Z401	.;MYCPP_HUMAN	L	1711;1668	ENSP00000391167:H1711L;ENSP00000396830:H1668L	ENSP00000396830:H1668L	H	-	2	0	DENND4A	63746947	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.879000	0.87236	2.194000	0.70268	0.454000	0.30748	CAT		0.388	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		12	55	0	0	0	0	12	55				
CDH13	1012	broad.mit.edu	37	16	83813622	83813622	+	Silent	SNP	C	C	T	rs151311546	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr16:83813622C>T	ENST00000566620.1	+	12	2021	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	CDH13_ENST00000428848.3_Silent_p.D538D|CDH13_ENST00000268613.10_Silent_p.D624D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	577	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGGAGGACGTGAATGACA	0.493													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18259	0.0		0.001	False		,,,				2504	0.001					uc002fgx.2		NA																	0				large_intestine(1)	1						c.(1729-1731)GAC>GAT		cadherin 13 preproprotein		C	,,,	0,3876		0,0,1938	101.0	94.0	96.0		1872,1614,969,1731	0.9	1.0	16	dbSNP_134	96	10,8352		0,10,4171	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	,,,	0,10,6109	TT,TC,CC		0.1196,0.0,0.0817	,,,	624/761,538/675,323/460,577/714	83813622	10,12228	1938	4181	6119	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83813622C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1731C>T	16.37:g.83813622C>T						CDH13_uc010vns.1_Silent_p.D624D|CDH13_uc010vnt.1_Silent_p.D323D|CDH13_uc010vnu.1_Silent_p.D538D	p.D577D	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	12	1851	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	577			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1731C>T	CCDS58486.1																																																																																				0.493	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	29	0	0	0	0	8	29				
SOCS6	9306	broad.mit.edu	37	18	67992652	67992652	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr18:67992652G>A	ENST00000397942.3	+	2	1064	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	SOCS6_ENST00000582322.1_Missense_Mutation_p.V250I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	250					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TCCCATGGAAGTCTCTGCGGT	0.537																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1		NA																	0				large_intestine(1)|lung(1)	2						c.(748-750)GTC>ATC		suppressor of cytokine signaling 6							95.0	77.0	83.0					18																	67992652		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992652G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.748G>A	18.37:g.67992652G>A	ENSP00000381034:p.Val250Ile					SOCS6_uc010dqq.2_Missense_Mutation_p.V250I	p.V250I	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	1064	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	250					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.748G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420998	0.25639	.	.	ENSG00000170677	ENST00000397942	T	0.27890	1.64	5.12	4.25	0.50352	.	0.658047	0.14083	N	0.342559	T	0.19127	0.0459	N	0.14661	0.345	0.47009	D	0.99928	B	0.13145	0.007	B	0.10450	0.005	T	0.03695	-1.1012	10	0.42905	T	0.14	-12.8321	9.9052	0.41372	0.1555:0.0:0.8445:0.0	.	250	O14544	SOCS6_HUMAN	I	250	ENSP00000381034:V250I	ENSP00000381034:V250I	V	+	1	0	SOCS6	66143632	1.000000	0.71417	0.850000	0.33497	0.552000	0.35366	7.903000	0.87398	1.149000	0.42402	-0.258000	0.10820	GTC		0.537	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			18	81	0	0	0	0	18	81				
ANKRD24	170961	broad.mit.edu	37	19	4219650	4219650	+	Silent	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:4219650A>T	ENST00000600132.1	+	19	3342	c.3066A>T	c.(3064-3066)acA>acT	p.T1022T	ANKRD24_ENST00000262970.5_Silent_p.T1112T|ANKRD24_ENST00000318934.4_Silent_p.T1022T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1022										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCTGGCCACAGCAGAGCAGC	0.652																																						uc010dtt.1		NA																	0					0						c.(3064-3066)ACA>ACT		ankyrin repeat domain 24							52.0	62.0	59.0					19																	4219650		2176	4278	6454	SO:0001819	synonymous_variant	170961							g.chr19:4219650A>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3066A>T	19.37:g.4219650A>T							p.T1022T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3342	+			1022			Potential.		O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.3066A>T	CCDS45925.1																																																																																				0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		9	68	0	0	0	0	9	68				
FBN3	84467	broad.mit.edu	37	19	8152012	8152012	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:8152012C>T	ENST00000600128.1	-	54	7117	c.6703G>A	c.(6703-6705)Gtc>Atc	p.V2235I	FBN3_ENST00000601739.1_Missense_Mutation_p.V2235I|FBN3_ENST00000270509.2_Missense_Mutation_p.V2235I			Q75N90	FBN3_HUMAN	fibrillin 3	2235	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGACAGACGCACGCGAAG	0.627																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6703-6705)GTC>ATC		fibrillin 3 precursor							85.0	76.0	79.0					19																	8152012		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152012C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6703G>A	19.37:g.8152012C>T	ENSP00000470498:p.Val2235Ile					FBN3_uc002mje.2_Missense_Mutation_p.V74I	p.V2235I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			53	6724	-			2235			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6703G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.581375	0.00879	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92495	-3.05	3.71	-6.76	0.01732	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.124305	0.52532	N	0.000074	T	0.73916	0.3648	N	0.04387	-0.21	0.25685	N	0.985756	B;B	0.24823	0.029;0.112	B;B	0.21360	0.034;0.01	T	0.66240	-0.5973	10	0.02654	T	1	.	14.1133	0.65137	0.0:0.225:0.0:0.775	.	2235;341	Q75N90;Q6ZNB8	FBN3_HUMAN;.	I	2235;341	ENSP00000270509:V2235I	ENSP00000270509:V2235I	V	-	1	0	FBN3	8058012	1.000000	0.71417	0.104000	0.21259	0.057000	0.15508	0.816000	0.27267	-1.295000	0.02357	-1.176000	0.01726	GTC		0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	58	0	0	0	0	9	58				
ZNF85	7639	broad.mit.edu	37	19	21132642	21132642	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:21132642T>C	ENST00000328178.8	+	4	1435	c.1322T>C	c.(1321-1323)cTt>cCt	p.L441P	ZNF85_ENST00000601023.1_Missense_Mutation_p.L382P|ZNF85_ENST00000345030.6_Missense_Mutation_p.L408P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	441					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCCTCAAAACTTACTGAACAT	0.323																																						uc002npg.3		NA																	0				central_nervous_system(1)	1						c.(1321-1323)CTT>CCT		zinc finger protein 85							21.0	23.0	22.0					19																	21132642		2198	4288	6486	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132642T>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1322T>C	19.37:g.21132642T>C	ENSP00000329793:p.Leu441Pro					ZNF85_uc010ecn.2_Missense_Mutation_p.L376P|ZNF85_uc010eco.2_Missense_Mutation_p.L389P|ZNF85_uc002npi.2_Missense_Mutation_p.L382P	p.L441P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	1449	+			441			C2H2-type 11; degenerate.		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1322T>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	8.183	0.794224	0.16327	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.53857	0.6;0.6	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76933	0.4057	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.77360	-0.2617	9	0.87932	D	0	.	7.5498	0.27790	0.0:0.0:0.0:1.0	.	408;382;441	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	441;408;316	ENSP00000329793:L441P;ENSP00000342340:L408P	ENSP00000329793:L441P	L	+	2	0	ZNF85	20924482	0.232000	0.23762	0.005000	0.12908	0.004000	0.04260	3.870000	0.56070	0.569000	0.29329	0.379000	0.24179	CTT		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		3	20	0	0	0	0	3	20				
RPIA	22934	broad.mit.edu	37	2	89035244	89035244	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:89035244G>A	ENST00000283646.4	+	6	641	c.586G>A	c.(586-588)Gct>Act	p.A196T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	196					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.A196T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CATCGTGATCGCTGATTTCAG	0.493																																						uc002ste.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(586-588)GCT>ACT		ribose 5-phosphate isomerase A							171.0	164.0	166.0					2																	89035244		1982	4166	6148	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035244G>A	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.586G>A	2.37:g.89035244G>A	ENSP00000283646:p.Ala196Thr						p.A196T	NM_144563	NP_653164	P49247	RPIA_HUMAN			6	627	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	196					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.586G>A	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	34	5.293948	0.95546	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.79845	-1.31	5.79	5.79	0.91817	.	0.146307	0.64402	D	0.000010	D	0.92322	0.7564	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93196	0.6587	10	0.72032	D	0.01	-3.2205	19.635	0.95728	0.0:0.0:1.0:0.0	.	196	P49247	RPIA_HUMAN	T	196;62	ENSP00000283646:A196T	ENSP00000283646:A196T	A	+	1	0	RPIA	88816359	1.000000	0.71417	0.951000	0.38953	0.733000	0.41908	8.609000	0.90898	2.733000	0.93635	0.655000	0.94253	GCT		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			35	124	0	0	0	0	35	124				
IL1RL1	9173	broad.mit.edu	37	2	102968039	102968039	+	Silent	SNP	G	G	A	rs111942110	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:102968039G>A	ENST00000233954.1	+	11	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	443	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGAGCAGGCGGCACATTTTCA	0.458													g|||	5	0.000998403	0.0	0.0014	5008	,	,		19016	0.0		0.002	False		,,,				2504	0.002					uc002tbu.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1327-1329)CGG>CGA		interleukin 1 receptor-like 1 isoform 1		G		3,4403	6.2+/-15.9	0,3,2200	91.0	84.0	86.0		1329	-1.8	0.5	2	dbSNP_132	86	22,8578	14.6+/-50.1	0,22,4278	no	coding-synonymous	IL1RL1	NM_016232.4		0,25,6478	AA,AG,GG		0.2558,0.0681,0.1922		443/557	102968039	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968039G>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1329G>A	2.37:g.102968039G>A						IL18R1_uc002tbw.3_Intron	p.R443R	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			11	1600	+			443			TIR.|Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1329G>A	CCDS2057.1																																																																																				0.458	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		4	54	0	0	0	0	4	54				
LBP	3929	broad.mit.edu	37	20	37001732	37001732	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr20:37001732C>T	ENST00000217407.2	+	13	1438	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	426					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTTGGAAGCGCTCCTCAAC	0.463																																						uc002xic.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1276-1278)GCG>GTG		lipopolysaccharide-binding protein precursor							118.0	106.0	110.0					20																	37001732		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37001732C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1277C>T	20.37:g.37001732C>T	ENSP00000217407:p.Ala426Val						p.A426V	NM_004139	NP_004130	P18428	LBP_HUMAN			13	1312	+		Myeloproliferative disorder(115;0.00878)	426					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1277C>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520833	0.13005	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07688	3.17	4.82	2.81	0.32909	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.256446	0.33631	N	0.004711	T	0.08935	0.0221	L	0.59436	1.845	0.09310	N	1	P	0.43169	0.8	B	0.37451	0.25	T	0.19745	-1.0296	10	0.29301	T	0.29	-9.9058	11.4493	0.50142	0.0:0.6485:0.3515:0.0	.	426	P18428	LBP_HUMAN	V	426	ENSP00000217407:A426V	ENSP00000217407:A426V	A	+	2	0	LBP	36435146	0.764000	0.28473	0.098000	0.21074	0.011000	0.07611	1.265000	0.33027	0.711000	0.32018	0.462000	0.41574	GCG		0.463	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		9	66	0	0	0	0	9	66				
SLC5A1	6523	broad.mit.edu	37	22	32506120	32506120	+	Missense_Mutation	SNP	C	C	G	rs200684333		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:32506120C>G	ENST00000266088.4	+	15	2165	c.1915C>G	c.(1915-1917)Cct>Gct	p.P639A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.P512A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	639					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CTCTGAGAAGCCTTTGTGGAG	0.493																																						uc003amc.2		NA																	0				skin(1)	1						c.(1915-1917)CCT>GCT		solute carrier family 5 (sodium/glucose							314.0	238.0	263.0					22																	32506120		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32506120C>G		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1915C>G	22.37:g.32506120C>G	ENSP00000266088:p.Pro639Ala					SLC5A1_uc011alz.1_Missense_Mutation_p.P512A	p.P639A	NM_000343	NP_000334	P13866	SC5A1_HUMAN			15	2147	+			639			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1915C>G	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351084	0.82132	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90444	-2.36;-2.67	5.57	4.56	0.56223	.	0.048084	0.85682	D	0.000000	D	0.93314	0.7869	M	0.76574	2.34	0.58432	D	0.999999	P	0.51240	0.943	P	0.55615	0.78	D	0.93725	0.7036	10	0.72032	D	0.01	.	13.5065	0.61486	0.0:0.9248:0.0:0.0752	.	639	P13866	SC5A1_HUMAN	A	639;512	ENSP00000266088:P639A;ENSP00000444898:P512A	ENSP00000266088:P639A	P	+	1	0	SLC5A1	30836120	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	7.643000	0.83403	1.356000	0.45884	0.650000	0.86243	CCT		0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		4	71	0	0	0	0	4	71				
ELFN2	114794	broad.mit.edu	37	22	37770213	37770213	+	Silent	SNP	G	G	A	rs145219811		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:37770213G>A	ENST00000402918.2	-	3	2147	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	454					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCTGGGCGGCGTGCACAATGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.001					uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1360-1362)CAC>CAT		leucine rich repeat containing 62		G		0,4406		0,0,2203	112.0	114.0	114.0		1362	-1.8	1.0	22	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ELFN2	NM_052906.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		454/821	37770213	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770213G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1362C>T	22.37:g.37770213G>A							p.H454H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2148	-	Melanoma(58;0.0574)		454			Cytoplasmic (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1362C>T	CCDS33642.1																																																																																				0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		9	166	0	0	0	0	9	166				
PTH1R	5745	broad.mit.edu	37	3	46944059	46944059	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:46944059G>A	ENST00000313049.5	+	12	1458	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	PTH1R_ENST00000449590.1_Missense_Mutation_p.V419I|PTH1R_ENST00000418619.1_Missense_Mutation_p.V419I|PTH1R_ENST00000430002.2_Missense_Mutation_p.V419I			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	419					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCTCTTTGGCGTCCACTACAT	0.567																																						uc003cqm.2		NA																	0				breast(1)	1						c.(1255-1257)GTC>ATC		parathyroid hormone receptor 1 precursor							101.0	70.0	81.0					3																	46944059		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944059G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1255G>A	3.37:g.46944059G>A	ENSP00000321999:p.Val419Ile					PTH1R_uc003cqn.2_Missense_Mutation_p.V419I	p.V419I	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			14	1458	+			419			Helical; Name=6; (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1255G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827027	0.90955	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.92	4.92	0.64577	GPCR, family 2-like (1);	.	.	.	.	T	0.48857	0.1523	N	0.26162	0.8	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.32561	-0.9902	9	0.23302	T	0.38	.	17.2871	0.87145	0.0:0.0:1.0:0.0	.	419	Q03431	PTH1R_HUMAN	I	419;419;419;419;419;697	ENSP00000402723:V419I;ENSP00000411424:V419I;ENSP00000400977:V419I;ENSP00000413774:V419I;ENSP00000321999:V419I	ENSP00000321999:V419I	V	+	1	0	PTH1R	46919063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.553000	0.86117	0.655000	0.94253	GTC		0.567	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		4	8	0	0	0	0	4	8				
TOPBP1	11073	broad.mit.edu	37	3	133362159	133362159	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:133362159G>C	ENST00000260810.5	-	12	2037	c.1906C>G	c.(1906-1908)Cca>Gca	p.P636A	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	636					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAACTGGTGTGAAGAGA	0.368								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0		p.E636Q(1)		ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1906-1908)CCA>GCA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							84.0	80.0	81.0					3																	133362159		1863	4102	5965	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133362159G>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1906C>G	3.37:g.133362159G>C	ENSP00000260810:p.Pro636Ala						p.P636A	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			12	2038	-			636					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1906C>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995298	0.93167	.	.	ENSG00000163781	ENST00000260810	T	0.29397	1.57	5.86	5.86	0.93980	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63563	-0.6609	10	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	636	Q92547	TOPB1_HUMAN	A	636	ENSP00000260810:P636A	ENSP00000260810:P636A	P	-	1	0	TOPBP1	134844849	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	CCA		0.368	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		14	47	0	0	0	0	14	47				
PLCH1	23007	broad.mit.edu	37	3	155215156	155215156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:155215156A>T	ENST00000340059.7	-	14	1810	c.1811T>A	c.(1810-1812)tTg>tAg	p.L604*	PLCH1_ENST00000460012.1_Nonsense_Mutation_p.L586*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.L586*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.L604*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.L586*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.L604*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	604	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTACACAACCAAATCAGAGAG	0.463																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(1810-1812)TTG>TAG		phospholipase C eta 1 isoform a							134.0	122.0	126.0					3																	155215156		2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215156A>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1811T>A	3.37:g.155215156A>T	ENSP00000345988:p.Leu604*					PLCH1_uc011boj.1_Nonsense_Mutation_p.L604*|PLCH1_uc011bol.1_Nonsense_Mutation_p.L586*	p.L604*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2088	-			604			PI-PLC Y-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.1811T>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	40	8.247971	0.98724	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.76	5.76	0.90799	.	0.215687	0.39759	N	0.001265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	.	.	.	X	604;586;604;604;586;586	.	ENSP00000335469:L586X	L	-	2	0	PLCH1	156697850	1.000000	0.71417	0.940000	0.37924	0.975000	0.68041	8.406000	0.90216	2.191000	0.70037	0.533000	0.62120	TTG		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	85	0	0	0	0	13	85				
PIGG	54872	broad.mit.edu	37	4	515515	515515	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:515515C>T	ENST00000453061.2	+	8	1505	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.L334L|PIGG_ENST00000504346.1_Silent_p.L378L|PIGG_ENST00000310340.5_Silent_p.L459L|PIGG_ENST00000509768.1_Silent_p.L378L|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000536264.1_Silent_p.H329H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	467					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGAAGTCCCACTGTCATCTCC	0.532																																						uc003gak.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1399-1401)CTG>TTG		phosphatidylinositol glycan anchor biosynthesis,							161.0	143.0	149.0					4																	515515		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:515515C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1399C>T	4.37:g.515515C>T						PIGG_uc003gaj.3_Silent_p.L459L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L334L|PIGG_uc003gal.3_Silent_p.L378L|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.H329H|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Silent_p.L378L	p.L467L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			8	1535	+			467					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.1399C>T	CCDS46992.1																																																																																				0.532	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		17	51	0	0	0	0	17	51				
FAM193A	8603	broad.mit.edu	37	4	2659530	2659530	+	Splice_Site	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:2659530A>G	ENST00000324666.5	+	6	790	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	FAM193A_ENST00000502458.1_Splice_Site_p.M171V|FAM193A_ENST00000382839.3_Splice_Site_p.M147V|FAM193A_ENST00000545951.1_Splice_Site_p.M147V|FAM193A_ENST00000505311.1_Splice_Site_p.M147V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	147										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						CCCTTACTAGATGACAATGAA	0.333																																						uc010icl.2		NA																	0				ovary(3)	3						c.(439-441)ATG>GTG		hypothetical protein LOC8603							128.0	139.0	135.0					4																	2659530		2203	4300	6503	SO:0001630	splice_region_variant	8603							g.chr4:2659530A>G	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.439-1A>G	4.37:g.2659530A>G						FAM193A_uc010ick.2_Missense_Mutation_p.M347V|FAM193A_uc003gfd.2_Missense_Mutation_p.M147V|FAM193A_uc011bvm.1_Missense_Mutation_p.M171V|FAM193A_uc011bvn.1_Missense_Mutation_p.M147V|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.M1V	p.M147V	NM_003704	NP_003695	P78312	F193A_HUMAN			6	790	+			147					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.439A>G	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.841341	0.32513	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.32272	1.6;2.01;1.6;1.58;1.46	4.97	4.97	0.65823	.	0.135674	0.64402	D	0.000005	T	0.33702	0.0872	L	0.54323	1.7	0.43050	D	0.994654	P;P;P;P;P	0.42941	0.794;0.794;0.794;0.794;0.794	B;B;B;B;B	0.43052	0.406;0.406;0.406;0.406;0.406	T	0.09975	-1.0650	9	.	.	.	-28.8078	14.1219	0.65192	1.0:0.0:0.0:0.0	.	147;171;147;171;147	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	V	147;147;147;171;1	ENSP00000372290:M147V;ENSP00000324587:M147V;ENSP00000443617:M147V;ENSP00000427505:M171V;ENSP00000427260:M1V	.	M	+	1	0	FAM193A	2629328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.168000	0.64978	1.986000	0.57962	0.459000	0.35465	ATG		0.333	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	Missense_Mutation	33	147	0	0	0	0	33	147				
SLC12A7	10723	broad.mit.edu	37	5	1094337	1094337	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:1094337G>C	ENST00000264930.5	-	2	194	c.151C>G	c.(151-153)Cca>Gca	p.P51A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	51					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)	TTGAGGAATGGGCTGTTTTCT	0.423																																						uc003jbu.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(151-153)CCA>GCA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						127.0	117.0	120.0					5																	1094337		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1094337G>C	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.151C>G	5.37:g.1094337G>C	ENSP00000264930:p.Pro51Ala						p.P51A	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		2	217	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		51			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.151C>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763456	0.49574	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.83992	-1.79	3.59	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	M	0.64997	1.995	0.46458	D	0.999052	B	0.16802	0.019	B	0.16722	0.016	T	0.71906	-0.4451	10	0.31617	T	0.26	.	11.6499	0.51282	0.0:0.1821:0.8179:0.0	.	51	Q9Y666	S12A7_HUMAN	A	51	ENSP00000264930:P51A	ENSP00000264930:P51A	P	-	1	0	SLC12A7	1147337	1.000000	0.71417	0.137000	0.22149	0.054000	0.15201	5.314000	0.65804	0.586000	0.29626	0.491000	0.48974	CCA		0.423	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		13	116	0	0	0	0	13	116				
SPEF2	79925	broad.mit.edu	37	5	35759820	35759820	+	Splice_Site	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:35759820A>G	ENST00000356031.3	+	25	3773	c.3619A>G	c.(3619-3621)Aga>Gga	p.R1207G	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Splice_Site_p.R1202G	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1207					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGCTTAGGTAAGGCAG	0.358																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3619-3621)AGA>GGA		KPL2 protein isoform 1							84.0	81.0	82.0					5																	35759820		1850	4077	5927	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35759820A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3620+1A>G	5.37:g.35759820A>G						SPEF2_uc003jjp.1_Missense_Mutation_p.R693G	p.R1207G	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		25	3730	+	all_lung(31;7.56e-05)		1207					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3619A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818291	0.32145	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.33865	1.39;1.39	5.33	1.56	0.23342	.	0.220654	0.44688	N	0.000432	T	0.32010	0.0815	M	0.71581	2.175	0.37070	D	0.898498	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.002	T	0.17837	-1.0356	10	0.45353	T	0.12	.	4.9651	0.14087	0.6275:0.1519:0.2205:0.0	.	1202;1207	Q9C093-2;Q9C093	.;SPEF2_HUMAN	G	1207;1202	ENSP00000348314:R1207G;ENSP00000412125:R1202G	ENSP00000348314:R1207G	R	+	1	2	SPEF2	35795577	0.961000	0.32948	0.517000	0.27799	0.022000	0.10575	2.230000	0.42999	0.395000	0.25257	-0.261000	0.10672	AGA		0.358	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Missense_Mutation	29	115	0	0	0	0	29	115				
CDO1	1036	broad.mit.edu	37	5	115151945	115151945	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:115151945G>A	ENST00000250535.4	-	1	706	c.150C>T	c.(148-150)taC>taT	p.Y50Y	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	50					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CGAACTTGGCGTACATTGCCC	0.632																																						uc003krg.2		NA																	0				large_intestine(1)|skin(1)	2						c.(148-150)TAC>TAT		cysteine dioxygenase	L-Cysteine(DB00151)|NADH(DB00157)						142.0	126.0	131.0					5																	115151945		2202	4300	6502	SO:0001819	synonymous_variant	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115151945G>A		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.150C>T	5.37:g.115151945G>A							p.Y50Y	NM_001801	NP_001792	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	1	461	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)	50					B2RAK4|P78513|Q6FHZ8|Q8TB64	Silent	SNP	ENST00000250535.4	37	c.150C>T	CCDS4121.1																																																																																				0.632	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801		23	78	0	0	0	0	23	78				
SYNE1	23345	broad.mit.edu	37	6	152557366	152557366	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:152557366T>A	ENST00000367255.5	-	110	20873	c.20272A>T	c.(20272-20274)Ata>Tta	p.I6758L	SYNE1_ENST00000423061.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1282L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6370L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I6758L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6758					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGGATATCAGAAGTCGT	0.343										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20272-20274)ATA>TTA		spectrin repeat containing, nuclear envelope 1							137.0	133.0	134.0					6																	152557366		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557366T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20272A>T	6.37:g.152557366T>A	ENSP00000356224:p.Ile6758Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.I1282L|SYNE1_uc003qos.3_Missense_Mutation_p.I1282L|SYNE1_uc003qot.3_Missense_Mutation_p.I6687L|SYNE1_uc003qou.3_Missense_Mutation_p.I6758L	p.I6758L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	110	20874	-		Ovarian(120;0.0955)	6758			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20272A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524480	0.27299	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50277	0.84;0.83;0.75;0.83;0.93;2.83	5.76	3.24	0.37175	.	0.385185	0.24815	N	0.035370	T	0.09202	0.0227	N	0.19112	0.55	0.23138	N	0.998238	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.36939	-0.9727	10	0.08179	T	0.78	.	6.9727	0.24658	0.1707:0.0:0.2345:0.5948	.	6758;6758;6687	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6758;6687;6758;6687;6370;1282	ENSP00000356224:I6758L;ENSP00000396024:I6687L;ENSP00000265368:I6758L;ENSP00000390975:I6687L;ENSP00000341887:I6370L;ENSP00000349276:I1282L	ENSP00000265368:I6758L	I	-	1	0	SYNE1	152599059	0.623000	0.27094	0.990000	0.47175	0.987000	0.75469	1.125000	0.31332	0.393000	0.25203	0.533000	0.62120	ATA		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	64	0	0	0	0	11	64				
RPS6KA2	6196	broad.mit.edu	37	6	166918090	166918090	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:166918090G>A	ENST00000265678.4	-	6	693	c.470C>T	c.(469-471)aCg>aTg	p.T157M	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T182M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T68M|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.T3M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T165M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T68M	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	157	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATCCTCCTCCGTGAACATGAC	0.428																																						uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(469-471)ACG>ATG		ribosomal protein S6 kinase, 90kDa, polypeptide							118.0	110.0	113.0					6																	166918090		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166918090G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.470C>T	6.37:g.166918090G>A	ENSP00000265678:p.Thr157Met					RPS6KA2_uc011ego.1_Missense_Mutation_p.T68M|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T68M|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T165M|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T182M	p.T157M	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	6	689	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	157			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.470C>T	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361658	0.61403	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863;ENST00000507350;ENST00000512860;ENST00000507371	T;T;T;T;T;T;T;T;T	0.71698	1.7;1.7;1.7;1.7;1.7;-0.25;1.7;1.7;-0.59	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.979;0.999	D	0.86021	0.1507	10	0.54805	T	0.06	.	17.35	0.87321	0.0:0.0:1.0:0.0	.	182;165;157	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	157;182;165;68;68;3;68;68;141	ENSP00000265678:T157M;ENSP00000422435:T182M;ENSP00000427015:T165M;ENSP00000422484:T68M;ENSP00000386050:T68M;ENSP00000355828:T3M;ENSP00000422197:T68M;ENSP00000427605:T68M;ENSP00000423114:T141M	ENSP00000265678:T157M	T	-	2	0	RPS6KA2	166838080	1.000000	0.71417	0.992000	0.48379	0.688000	0.40055	9.123000	0.94387	2.350000	0.79820	0.484000	0.47621	ACG		0.428	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		15	68	0	0	0	0	15	68				
IQCE	23288	broad.mit.edu	37	7	2632713	2632713	+	Silent	SNP	C	C	T	rs533844835	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:2632713C>T	ENST00000402050.2	+	15	1486	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	IQCE_ENST00000404984.1_Silent_p.C383C|IQCE_ENST00000325979.7_Silent_p.C369C|IQCE_ENST00000438376.2_Silent_p.C418C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	434						mitochondrion (GO:0005739)		p.C434C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agctggagtgcgcgagggagg	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		19363	0.0		0.0	False		,,,				2504	0.002					uc003smo.3		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(1300-1302)TGC>TGT		IQ motif containing E isoform 1							107.0	137.0	127.0					7																	2632713		2133	4236	6369	SO:0001819	synonymous_variant	23288							g.chr7:2632713C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1302C>T	7.37:g.2632713C>T						IQCE_uc010ksm.1_Silent_p.C434C|IQCE_uc003sml.1_Silent_p.C434C|IQCE_uc011jvy.1_Silent_p.C418C|IQCE_uc011jvz.1_Silent_p.C369C|IQCE_uc003smk.3_Silent_p.C418C|IQCE_uc003smn.3_Silent_p.C369C	p.C434C	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	15	1486	+		Ovarian(82;0.0112)	434			Potential.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.1302C>T	CCDS43542.1																																																																																				0.607	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		16	84	0	0	0	0	16	84				
SP4	6671	broad.mit.edu	37	7	21516774	21516774	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:21516774G>T	ENST00000222584.3	+	4	1974	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	586					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGGAGGAATTGCTAATGCCAC	0.453																																						uc003sva.2		NA																	0				ovary(3)|skin(2)	5						c.(1756-1758)GCT>TCT		Sp4 transcription factor							105.0	91.0	95.0					7																	21516774		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21516774G>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1756G>T	7.37:g.21516774G>T	ENSP00000222584:p.Ala586Ser					SP4_uc003svb.2_Missense_Mutation_p.A273S	p.A586S	NM_003112	NP_003103	Q02446	SP4_HUMAN			4	1937	+			586					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1756G>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	9.944	1.218223	0.22373	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	T	0.09163	3.01	6.17	6.17	0.99709	.	0.109437	0.64402	D	0.000007	T	0.13628	0.0330	N	0.05177	-0.1	0.50467	D	0.999877	D	0.58970	0.984	D	0.65443	0.935	T	0.08269	-1.0730	10	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	586	Q02446	SP4_HUMAN	S	586;29	ENSP00000222584:A586S	ENSP00000222584:A586S	A	+	1	0	SP4	21483299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.565000	0.60836	2.941000	0.99782	0.655000	0.94253	GCT		0.453	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		10	38	1	0	3.07e-06	3.37e-06	10	38				
ABCB1	5243	broad.mit.edu	37	7	87178771	87178771	+	Missense_Mutation	SNP	C	C	T	rs201188762		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:87178771C>T	ENST00000265724.3	-	15	2035	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	ABCB1_ENST00000543898.1_Missense_Mutation_p.A476T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	540	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGTGCAATGGCGATCCTCTGC	0.547																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1618-1620)GCC>ACC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						133.0	113.0	120.0					7																	87178771		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87178771C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1618G>A	7.37:g.87178771C>T	ENSP00000265724:p.Ala540Thr					ABCB1_uc011khc.1_Missense_Mutation_p.A476T	p.A540T	NM_000927	NP_000918	P08183	MDR1_HUMAN			15	2036	-	Esophageal squamous(14;0.00164)		540			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1618G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452765	0.96223	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85088	-1.94;-1.94	5.8	5.8	0.92144	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.106709	0.64402	D	0.000005	D	0.94016	0.8083	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.94359	0.7586	10	0.87932	D	0	-16.9766	20.051	0.97627	0.0:1.0:0.0:0.0	.	476;540	B5AK60;P08183	.;MDR1_HUMAN	T	321;540;476	ENSP00000265724:A540T;ENSP00000444095:A476T	ENSP00000265724:A540T	A	-	1	0	ABCB1	87016707	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.798000	0.85924	2.740000	0.93945	0.650000	0.86243	GCC		0.547	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		8	184	0	0	0	0	8	184				
SLC26A4	5172	broad.mit.edu	37	7	107314736	107314736	+	Silent	SNP	A	A	G	rs529320153		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:107314736A>G	ENST00000265715.3	+	5	767	c.543A>G	c.(541-543)agA>agG	p.R181R		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	181					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGCAGCTAGAGATACAGCTA	0.413									Pendred syndrome																													uc003vep.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(541-543)AGA>AGG		pendrin							112.0	106.0	108.0					7																	107314736		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314736A>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.543A>G	7.37:g.107314736A>G							p.R181R	NM_000441	NP_000432	O43511	S26A4_HUMAN			5	767	+			181			Extracellular (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.543A>G	CCDS5746.1																																																																																				0.413	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		11	48	0	0	0	0	11	48				
UBR5	51366	broad.mit.edu	37	8	103293651	103293651	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr8:103293651C>T	ENST00000520539.1	-	41	6399	c.5793G>A	c.(5791-5793)gaG>gaA	p.E1931E	UBR5_ENST00000521922.1_Silent_p.E1925E|UBR5_ENST00000220959.4_Silent_p.E1931E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1931					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCAGAATGCTCATCATTAT	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(5791-5793)GAG>GAA		ubiquitin protein ligase E3 component n-recognin							135.0	120.0	125.0					8																	103293651		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293651C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5793G>A	8.37:g.103293651C>T						UBR5_uc003yks.1_Silent_p.E1931E	p.E1931E	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	5826	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1931					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.5793G>A	CCDS34933.1																																																																																				0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		19	111	0	0	0	0	19	111				
SEMA4D	10507	broad.mit.edu	37	9	91994380	91994380	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:91994380G>A	ENST00000450295.1	-	16	2604	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	610	Ig-like C2-type.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAAGATGAGCAAGTTTTTT	0.517																																						uc004aqo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1828-1830)CTC>TTC		semaphorin 4D isoform 1							223.0	230.0	227.0					9																	91994380		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994380G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1828C>T	9.37:g.91994380G>A	ENSP00000416523:p.Leu610Phe					SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.L608F	p.L610F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			18	2400	-			610			Ig-like C2-type.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.1828C>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381222	0.61845	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.9	3.98	0.46160	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.122596	0.56097	D	0.000028	T	0.40909	0.1136	M	0.62016	1.91	0.49213	D	0.99976	D	0.76494	0.999	D	0.85130	0.997	T	0.26849	-1.0091	10	0.87932	D	0	.	10.3042	0.43670	0.0:0.147:0.7003:0.1526	.	610	Q92854	SEM4D_HUMAN	F	610	ENSP00000416523:L610F;ENSP00000405102:L610F;ENSP00000348822:L610F;ENSP00000388768:L610F	ENSP00000348822:L610F	L	-	1	0	SEMA4D	91184200	1.000000	0.71417	0.999000	0.59377	0.571000	0.35966	5.551000	0.67274	1.252000	0.44001	0.561000	0.74099	CTC		0.517	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		20	300	0	0	0	0	20	300				
LHX2	9355	broad.mit.edu	37	9	126777641	126777641	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:126777641G>A	ENST00000373615.4	+	3	1303	c.564G>A	c.(562-564)gcG>gcA	p.A188A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	188	Poly-Ala.				axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACGTGGCAGCGGCGGCCGCTG	0.677																																						uc004boe.1		NA																	0					0						c.(562-564)GCG>GCA		LIM homeobox protein 2							16.0	18.0	18.0					9																	126777641		2195	4288	6483	SO:0001819	synonymous_variant	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126777641G>A	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.564G>A	9.37:g.126777641G>A						LHX2_uc010mwi.1_Silent_p.A196A	p.A188A	NM_004789	NP_004780	P50458	LHX2_HUMAN			3	1303	+			188			Poly-Ala.		O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	c.564G>A	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360495	0.05103	.	.	ENSG00000106689	ENST00000446480	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.43471	D	0.995687	.	.	.	.	.	.	T	0.38950	-0.9637	4	.	.	.	.	0.6035	0.00748	0.2334:0.2631:0.1481:0.3554	.	.	.	.	S	194	.	.	G	+	1	0	LHX2	125817462	0.000000	0.05858	0.021000	0.16686	0.072000	0.16883	-5.049000	0.00156	-2.262000	0.00690	0.462000	0.41574	GGC		0.677	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			3	28	0	0	0	0	3	28				
MED22	6837	broad.mit.edu	37	9	136211174	136211174	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:136211174C>A	ENST00000491289.1	-	4	800	c.219G>T	c.(217-219)gaG>gaT	p.E73D	MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Missense_Mutation_p.E73D|MED22_ENST00000476080.1_Missense_Mutation_p.E73D|MED22_ENST00000371999.1_Missense_Mutation_p.E67D|MED22_ENST00000343730.5_Missense_Mutation_p.E73D			Q15528	MED22_HUMAN	mediator complex subunit 22	73						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATCAGGGACTCGCCGGCTC	0.627																																						uc004cdc.2		NA																	0				ovary(1)	1						c.(217-219)GAG>GAT		mediator complex subunit 22 isoform b							87.0	69.0	75.0					9																	136211174		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136211174C>A		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.219G>T	9.37:g.136211174C>A	ENSP00000420393:p.Glu73Asp					MED22_uc004cdd.2_Missense_Mutation_p.E73D	p.E73D	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	4	453	-			73					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.219G>T	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576324	0.45902	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.93	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.52364	1.645	0.58432	D	0.999998	D;D	0.89917	0.987;1.0	P;D	0.87578	0.886;0.998	T	0.61589	-0.7032	9	0.33940	T	0.23	-6.8544	8.2772	0.31879	0.0:0.7525:0.0:0.2475	.	73;73	Q15528-2;Q15528	.;MED22_HUMAN	D	73;73;73;73;73;67;73;73;73	.	ENSP00000342343:E73D	E	-	3	2	MED22	135200995	1.000000	0.71417	0.997000	0.53966	0.695000	0.40330	1.159000	0.31749	1.083000	0.41159	0.655000	0.94253	GAG		0.627	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		4	47	1	0	1.24e-05	1.35e-05	4	47				
C9orf139	401563	broad.mit.edu	37	9	139929486	139929486	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:139929486C>T	ENST00000314330.2	+	3	2067	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	185										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCCCTCATCTCACCCCACCCA	0.592																																						uc004ckp.1		NA																	0					0						c.(553-555)CAC>TAC		hypothetical protein LOC401563							33.0	43.0	40.0					9																	139929486		2192	4291	6483	SO:0001583	missense	401563							g.chr9:139929486C>T		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.553C>T	9.37:g.139929486C>T	ENSP00000318119:p.His185Tyr					FUT7_uc004ckq.2_5'Flank	p.H185Y	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	2067	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	185					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.553C>T	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	c	5.791	0.330359	0.10956	.	.	ENSG00000180539	ENST00000314330	T	0.53206	0.63	2.43	-0.925	0.10458	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.18147	-1.0346	9	0.87932	D	0	.	3.1759	0.06569	0.0:0.476:0.2267:0.2973	.	185	Q6ZV77	CI139_HUMAN	Y	185	ENSP00000318119:H185Y	ENSP00000318119:H185Y	H	+	1	0	C9orf139	139049307	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.268000	0.08607	-0.210000	0.10140	0.290000	0.19541	CAC		0.592	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		17	56	0	0	0	0	17	56				
TTC7B	145567	broad.mit.edu	37	14	91121355	91121356	+	Frame_Shift_Ins	INS	-	-	GTAC			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:91121355_91121356insGTAC	ENST00000328459.6	-	12	1561_1562	c.1440_1441insGTAC	c.(1438-1443)tacagtfs	p.S481fs	TTC7B_ENST00000357056.2_Frame_Shift_Ins_p.S481fs	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	481										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCCTGCAGACTGTACGTGAGCC	0.559																																						uc001xyp.2		NA																	0				ovary(2)	2						c.(1438-1443)TACAGTfs		tetratricopeptide repeat domain 7B																																				SO:0001589	frameshift_variant	145567						binding	g.chr14:91121355_91121356insGTAC	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1437_1440dupGTAC	14.37:g.91121356_91121359dupGTAC	ENSP00000336127:p.Ser481fs					TTC7B_uc010ats.2_RNA	p.Y480fs	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			12	1562_1563	-		Melanoma(154;0.222)	480_481			TPR 5.		Q86U24|Q86VT3	Frame_Shift_Ins	INS	ENST00000328459.6	37	c.1440_1441insGTAC	CCDS32140.1																																																																																				0.559	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			10	51	NA	NA	NA	NA	10	51	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578205	7578206	+	Frame_Shift_Ins	INS	-	-	T	rs587782177		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr17:7578205_7578206insT	ENST00000269305.4	-	6	832_833	c.643_644insA	c.(643-645)agtfs	p.S215fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.S215fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S215fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S215fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S215fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S215fs	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.S215I(18)|p.S215N(9)|p.0?(8)|p.S215G(6)|p.S215C(5)|p.?(5)|p.S215fs*32(4)|p.S215T(3)|p.S215R(2)|p.H214fs*5(2)|p.S122N(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.S215_V218>M(1)|p.R209fs*6(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)	CACCACCACACTATGTCGAAAA	0.535		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)	uc002gim.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		81	Substitution - Missense(47)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Complex - deletion inframe(2)|Insertion - In frame(1)|Complex - frameshift(1)	p.S215R(16)|p.S215I(15)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.S215fs*32(4)|p.S215T(3)|p.S215S(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V216insX(1)|p.R213fs*32(1)|p.R209fs*6(1)	oesophagus(11)|biliary_tract(10)|lung(10)|ovary(10)|large_intestine(8)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|bone(5)|breast(5)|stomach(4)|central_nervous_system(3)|liver(2)|kidney(1)|urinary_tract(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(643-645)AGTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578205_7578206insT	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.644dupA	17.37:g.7578206_7578206dupT	ENSP00000269305:p.Ser215fs	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_uc002gig.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S83fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S215fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.S122fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S83fs|TP53_uc010vug.1_Frame_Shift_Ins_p.S176fs	p.S215fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	837_838	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> R (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.643_644insA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	34	NA	NA	NA	NA	21	34	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22575302	22575302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:22575302delT	ENST00000357774.5	-	4	856	c.735delA	c.(733-735)aaafs	p.K245fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTTAAAGGCTTTTCCACACT	0.393																																						uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(733-735)AAAfs		zinc finger protein 98							4.0	4.0	4.0					19																	22575302		1625	3757	5382	SO:0001589	frameshift_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575302delT		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.735delA	19.37:g.22575302delT	ENSP00000350418:p.Lys245fs						p.K245fs	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	857	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	245			C2H2-type 3.			Frame_Shift_Del	DEL	ENST00000357774.5	37	c.735delA	CCDS46031.1																																																																																				0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		2	4	NA	NA	NA	NA	2	4	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130949467	130949469	+	In_Frame_Del	DEL	CTT	CTT	-	rs576105082		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:130949467_130949469delCTT	ENST00000312988.7	-	5	1388_1390	c.1288_1290delAAG	c.(1288-1290)aagdel	p.K430del		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	430					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTTCACAATCCTTCTCTAGAGCT	0.591																																						uc002tqv.2		NA																	0				skin(1)	1						c.(1288-1290)AAGdel		tubulin, alpha 3e																																				SO:0001651	inframe_deletion	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949467_130949469delCTT	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1288_1290delAAG	2.37:g.130949467_130949469delCTT	ENSP00000318197:p.Lys430del						p.K430del	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			5	1389_1391	-	Colorectal(110;0.1)		430						In_Frame_Del	DEL	ENST00000312988.7	37	c.1288_1290delAAG	CCDS2158.1																																																																																				0.591	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		17	152	NA	NA	NA	NA	17	152	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86672729	86672740	+	In_Frame_Del	DEL	ATGCTTTATCAC	ATGCTTTATCAC	-	rs200416306		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:86672729_86672740delATGCTTTATCAC	ENST00000274376.6	+	17	2780_2791	c.2216_2227delATGCTTTATCAC	c.(2215-2229)tatgctttatcacat>tat	p.ALSH740del	RASA1_ENST00000456692.2_In_Frame_Del_p.ALSH563del|RASA1_ENST00000512763.1_In_Frame_Del_p.ALSH573del|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_In_Frame_Del_p.ALSH574del	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	740					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CATGTAGTCTATGCTTTATCACATGTATGTGG	0.368																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2215-2229)TATGCTTTATCACAT>TAT		RAS p21 protein activator 1 isoform 1																																				SO:0001651	inframe_deletion	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672729_86672740delATGCTTTATCAC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2216_2227delATGCTTTATCAC	5.37:g.86672729_86672740delATGCTTTATCAC	ENSP00000274376:p.Ala740_His743del					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.ALSH563del|RASA1_uc011ctv.1_In_Frame_Del_p.ALSH573del|RASA1_uc011ctw.1_In_Frame_Del_p.ALSH574del|RASA1_uc010jaw.2_In_Frame_Del_p.ALSH562del	p.ALSH740del	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	17	2334_2345	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	740_743					B2R6W3|Q9UDI1	In_Frame_Del	DEL	ENST00000274376.6	37	c.2216_2227delATGCTTTATCAC	CCDS34200.1																																																																																				0.368	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		16	47	NA	NA	NA	NA	16	47	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64719029	64719037	+	In_Frame_Del	DEL	ACTACCGAG	ACTACCGAG	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chrX:64719029_64719037delACTACCGAG	ENST00000338957.4	+	3	966_974	c.899_907delACTACCGAG	c.(898-909)aactaccgagac>aac	p.YRD301del	ZC3H12B_ENST00000423889.3_In_Frame_Del_p.YRD290del	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	301							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAATGATAACTACCGAGACCTTCAAGT	0.445																																						uc010nko.2		NA																	0				lung(1)|kidney(1)|pancreas(1)	3						c.(865-876)AACTACCGAGAC>AAC		zinc finger CCCH-type containing 12B																																				SO:0001651	inframe_deletion	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719029_64719037delACTACCGAG	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.899_907delACTACCGAG	X.37:g.64719029_64719037delACTACCGAG	ENSP00000340839:p.Tyr301_Asp303del						p.YRD290del	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			3	875_883	+			290_292					B2RTQ3|E9PAJ6|Q5H9C0	In_Frame_Del	DEL	ENST00000338957.4	37	c.866_874delACTACCGAG	CCDS48131.2																																																																																				0.445	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		17	43	NA	NA	NA	NA	17	43	---	---	---	---
