#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF710	374655	broad.mit.edu	37	15	90617455	90617455	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:90617455C>T	ENST00000268154.4	+	4	2009	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGTTTAATCTCAAGGGCAACC	0.592																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1756-1758)ctC>ctT		zinc finger protein 710							58.0	52.0	54.0					15																	90617455		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90617455C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1758C>T	15.37:g.90617455C>T							p.L586L	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		4	2009	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		586					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1758C>T	CCDS10358.1																																																																																				0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		18	33	0	0	0	0.038395	0	18	33				
ITGA3	3675	broad.mit.edu	37	17	48156836	48156836	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:48156836G>T	ENST00000320031.8	+	21	2951	c.2621G>T	c.(2620-2622)cGg>cTg	p.R874L	ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	874					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CAGCGCAGGCGGCGACAGCTG	0.627																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2620-2622)cGg>cTg		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							38.0	42.0	41.0					17																	48156836		2202	4299	6501	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156836G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2621G>T	17.37:g.48156836G>T	ENSP00000315190:p.Arg874Leu					ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L	p.R874L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			21	2951	+			874					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2621G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431169	0.62844	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.50277	0.75;0.75	4.79	4.79	0.61399	Integrin alpha-2 (1);	0.058114	0.64402	D	0.000003	T	0.56717	0.2004	M	0.72118	2.19	0.80722	D	1	D;B	0.52996	0.957;0.177	P;B	0.54544	0.755;0.069	T	0.57148	-0.7861	10	0.42905	T	0.14	.	8.8749	0.35339	0.0995:0.0:0.9005:0.0	.	874;874	P26006-1;P26006	.;ITA3_HUMAN	L	874;860;874	ENSP00000007722:R874L;ENSP00000315190:R874L	ENSP00000007722:R874L	R	+	2	0	ITGA3	45511835	0.985000	0.35326	0.928000	0.36995	0.917000	0.54804	2.363000	0.44178	2.486000	0.83907	0.313000	0.20887	CGG		0.627	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		4	66	1	0	0.00909568	0.009096	0.00952881	4	66				
MCM2	4171	broad.mit.edu	37	3	127335823	127335823	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:127335823C>T	ENST00000265056.7	+	10	1879	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	545	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GAGCCATCTTCACCACTGGCC	0.607																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1633-1635)ttC>ttT		minichromosome maintenance complex component 2							76.0	81.0	79.0					3																	127335823		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335823C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1635C>T	3.37:g.127335823C>T							p.F545F	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			10	1879	+			545			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1635C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614554	0.28712	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.79	3.03	0.35002	.	.	.	.	.	T	0.62097	0.2400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58934	-0.7548	4	.	.	.	-36.7156	11.7228	0.51691	0.0:0.8055:0.0:0.1945	.	.	.	.	L	477	.	.	S	+	2	0	MCM2	128818513	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.299000	0.51826	0.794000	0.33899	0.650000	0.86243	TCA		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			46	75	0	0	0	0.014410	0	46	75				
PCDHB10	56126	broad.mit.edu	37	5	140573408	140573408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:140573408C>T	ENST00000239446.4	+	1	1467	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTTGGGGACACCCAGGCTG	0.537																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1282-1284)aCa>aTa									100.0	96.0	97.0					5																	140573408		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573408C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1283C>T	5.37:g.140573408C>T	ENSP00000239446:p.Thr428Ile						p.T428I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1467	+			428			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1283C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804544	0.16467	.	.	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.22	2.34	0.29019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02970	0.0088	L	0.49640	1.575	0.21290	N	0.999736	B	0.17268	0.021	B	0.30029	0.11	T	0.35674	-0.9779	9	0.49607	T	0.09	.	10.4758	0.44663	0.0:0.8999:0.0:0.1001	.	428	Q9UN67	PCDBA_HUMAN	I	428	ENSP00000239446:T428I	ENSP00000239446:T428I	T	+	2	0	PCDHB10	140553592	0.000000	0.05858	0.011000	0.14972	0.562000	0.35680	-0.020000	0.12525	0.702000	0.31825	-0.273000	0.10243	ACA		0.537	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		33	46	0	0	0	0.013726	0	33	46				
C9orf116	138162	broad.mit.edu	37	9	138391667	138391667	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:138391667C>T	ENST00000429260.2	-	1	51	c.31G>A	c.(31-33)Gag>Aag	p.E11K	C9orf116_ENST00000371789.3_Missense_Mutation_p.E11K|C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K|MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	11															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCCACAGGCTCCGCGCACGCT	0.697																																						ENST00000371789.3																			0											c.(31-33)Gag>Aag		chromosome 9 open reading frame 116							10.0	11.0	11.0					9																	138391667		2172	4281	6453	SO:0001583	missense	138162							g.chr9:138391667C>T	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.31G>A	9.37:g.138391667C>T	ENSP00000395281:p.Glu11Lys					C9orf116_ENST00000429260.2_Missense_Mutation_p.E11K|C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K	p.E11K			Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	1	697	-			11					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.31G>A	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557303	0.65425	.	.	ENSG00000160345	ENST00000429260;ENST00000371789;ENST00000371791	.	.	.	3.66	2.75	0.32379	.	2.237690	0.01723	N	0.028415	T	0.44414	0.1292	L	0.47716	1.5	0.09310	N	1	B;B	0.20671	0.047;0.017	B;B	0.18561	0.022;0.022	T	0.28427	-1.0044	9	0.52906	T	0.07	-6.483	6.4017	0.21642	0.0:0.7584:0.0:0.2416	.	11;11	Q5BN46;Q5BN46-2	CI116_HUMAN;.	K	11	.	ENSP00000360854:E11K	E	-	1	0	C9orf116	137531488	0.027000	0.19231	0.019000	0.16419	0.056000	0.15407	1.435000	0.34969	0.820000	0.34516	0.462000	0.41574	GAG		0.697	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		4	5	0	0	0	0.014758	0	4	5				
TRIM46	80128	broad.mit.edu	37	1	155149705	155149705	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:155149705G>A	ENST00000334634.4	+	5	848	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000392451.2_Missense_Mutation_p.G283E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	283						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATCCTGGGAAACCAGGAC	0.612																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(847-849)gGa>gAa		tripartite motif containing 46							122.0	115.0	117.0					1																	155149705		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149705G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.848G>A	1.37:g.155149705G>A	ENSP00000334657:p.Gly283Glu					TRIM46_ENST00000334634.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000468878.1_3'UTR	p.G283E			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	931	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		283					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.848G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347817	0.61183	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.63744	0.95;0.71;-0.06;0.89;0.65;0.42;0.47	5.33	5.33	0.75918	.	0.204070	0.44285	D	0.000476	T	0.29423	0.0733	N	0.19112	0.55	0.36897	D	0.890186	P;P;P;P;P	0.42827	0.782;0.791;0.791;0.67;0.782	B;B;B;B;B	0.41764	0.189;0.366;0.191;0.366;0.324	T	0.28776	-1.0033	10	0.05833	T	0.94	.	14.8761	0.70496	0.0:0.0:1.0:0.0	.	270;283;260;283;283	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	E	290;270;283;157;283;283;260;283	ENSP00000442719:G290E;ENSP00000357369:G283E;ENSP00000440254:G157E;ENSP00000376245:G283E;ENSP00000357367:G283E;ENSP00000357366:G260E;ENSP00000334657:G283E	ENSP00000334657:G283E	G	+	2	0	TRIM46	153416329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.971000	0.63749	2.665000	0.90641	0.655000	0.94253	GGA		0.612	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		35	126	0	0	0	0.025465	0	35	126				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	88	0	0	0	0.004672	0	3	88				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	67	0	0	0	0.009096	0	4	67				
DNAJC22	79962	broad.mit.edu	37	12	49742735	49742735	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr12:49742735G>A	ENST00000549441.2	+	3	1284	c.80G>A	c.(79-81)aGg>aAg	p.R27K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	27						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TACCTGGGAAGGGACAGCCAC	0.652																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(79-81)aGg>aAg		DnaJ (Hsp40) homolog, subfamily C, member 22							37.0	44.0	42.0					12																	49742735		2203	4299	6502	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742735G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.80G>A	12.37:g.49742735G>A	ENSP00000446830:p.Arg27Lys					DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K	p.R27K			Q8N4W6	DJC22_HUMAN			3	1284	+			27					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.80G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075311	0.94000	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.58797	0.31;0.31	4.91	4.91	0.64330	TM2 (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.33624	1.015	0.52501	D	0.999958	D	0.57257	0.979	P	0.56823	0.807	T	0.67526	-0.5648	10	0.87932	D	0	-10.4055	17.2967	0.87172	0.0:0.0:1.0:0.0	.	27	Q8N4W6	DJC22_HUMAN	K	27	ENSP00000446830:R27K;ENSP00000378508:R27K	ENSP00000378508:R27K	R	+	2	0	DNAJC22	48029002	1.000000	0.71417	0.913000	0.36048	0.995000	0.86356	9.060000	0.93907	2.452000	0.82932	0.556000	0.70494	AGG		0.652	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		4	78	0	0	0	0.009096	0	4	78				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	30	0	0	0	0.004672	0	3	30				
CT47B1	643311	broad.mit.edu	37	X	120008779	120008779	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:120008779G>A	ENST00000371311.3	-	1	1000	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(745-747)cCg>cTg		cancer/testis antigen family 47, member B1							40.0	37.0	38.0					X																	120008779		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008779G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.746C>T	X.37:g.120008779G>A	ENSP00000360360:p.Pro249Leu						p.P249L	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	1000	-			249					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.746C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	8.643	0.896532	0.17686	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.43	-0.162	0.13367	.	.	.	.	.	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B	0.31989	0.35	B	0.15870	0.014	T	0.15435	-1.0437	8	0.72032	D	0.01	.	3.4761	0.07585	0.4483:0.0:0.5517:0.0	.	249	P0C2W7	CT47B_HUMAN	L	249	.	ENSP00000360360:P249L	P	-	2	0	CT47B1	119892807	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.161000	0.16481	-0.095000	0.12351	0.171000	0.16805	CCG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		55	100	0	0	0	0.014410	0	55	100				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	37	0	0	0	0.004672	0	3	37				
INTU	27152	broad.mit.edu	37	4	128554328	128554328	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:128554328G>A	ENST00000335251.6	+	1	242	c.139G>A	c.(139-141)Gat>Aat	p.D47N	INTU_ENST00000296461.5_Missense_Mutation_p.D47N	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	47					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCGAGTAGCGATTATGAGTA	0.488																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(139-141)Gat>Aat		inturned planar cell polarity protein							89.0	88.0	88.0					4																	128554328		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128554328G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.139G>A	4.37:g.128554328G>A	ENSP00000334003:p.Asp47Asn					INTU_ENST00000296461.5_Missense_Mutation_p.D47N	p.D47N	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			1	242	+			47					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.139G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830399	0.32329	.	.	ENSG00000164066	ENST00000335251;ENST00000296461	T	0.49720	0.77	4.03	2.25	0.28309	.	0.417015	0.24321	N	0.039544	T	0.30070	0.0753	L	0.43152	1.355	0.09310	N	1	P	0.39920	0.695	B	0.30495	0.116	T	0.11348	-1.0591	10	0.30854	T	0.27	-2.4673	6.5913	0.22647	0.0:0.2259:0.5805:0.1936	.	47	Q9ULD6	PDZD6_HUMAN	N	47	ENSP00000296461:D47N	ENSP00000296461:D47N	D	+	1	0	INTU	128773778	0.378000	0.25114	0.005000	0.12908	0.840000	0.47671	1.243000	0.32767	0.618000	0.30179	0.655000	0.94253	GAT		0.488	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		5	65	0	0	0	0.021553	0	5	65				
BCAR3	8412	broad.mit.edu	37	1	94054850	94054850	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:94054850C>T	ENST00000370244.1	-	7	901	c.613G>A	c.(613-615)Gtt>Att	p.V205I	BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I|RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I|RP5-1033H22.2_ENST00000431770.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	205	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTCGCAGAACTGTCCGGTTG	0.582																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(613-615)Gtt>Att		breast cancer anti-estrogen resistance 3							50.0	51.0	51.0					1																	94054850		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054850C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.613G>A	1.37:g.94054850C>T	ENSP00000359264:p.Val205Ile					BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I	p.V205I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	901	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	205			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.613G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079240	0.20227	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.96	3.05	0.35203	SH2 motif (4);	0.110806	0.64402	D	0.000011	T	0.78597	0.4308	L	0.45051	1.395	0.80722	D	1	B;B	0.20368	0.044;0.04	B;B	0.30782	0.12;0.032	T	0.77749	-0.2471	10	0.51188	T	0.08	1.6997	10.7212	0.46042	0.0:0.7391:0.0:0.2609	.	205;114	O75815;Q5TEW3	BCAR3_HUMAN;.	I	114;205;205;205	ENSP00000359267:V114I;ENSP00000260502:V205I;ENSP00000359264:V205I;ENSP00000359263:V205I	ENSP00000260502:V205I	V	-	1	0	BCAR3	93827438	0.890000	0.30428	0.115000	0.21578	0.299000	0.27559	1.750000	0.38329	1.224000	0.43551	0.561000	0.74099	GTT		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	22	0	0	0	0.014758	0	4	22				
ZNF91	7644	broad.mit.edu	37	19	23544777	23544777	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:23544777G>A	ENST00000300619.7	-	4	1209	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	335					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAACGGCT	0.383																																						ENST00000300619.7																			0											c.(1003-1005)tCa>tTa		zinc finger protein 91							71.0	74.0	73.0					19																	23544777		2114	4253	6367	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544777G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1004C>T	19.37:g.23544777G>A	ENSP00000300619:p.Ser335Leu					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L	p.S335L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1209	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	335					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1004C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567820	0.13560	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	M	0.76002	2.32	0.09310	N	1	P;P	0.40282	0.711;0.604	B;B	0.39068	0.289;0.22	T	0.36625	-0.9740	9	0.66056	D	0.02	.	5.4987	0.16817	0.1923:0.0:0.8077:0.0	.	303;335	Q05481-2;Q05481	.;ZNF91_HUMAN	L	335;303	ENSP00000300619:S335L;ENSP00000380272:S303L	ENSP00000300619:S335L	S	-	2	0	ZNF91	23336617	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.123000	0.10611	1.100000	0.41517	0.162000	0.16502	TCA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		20	75	0	0	0	0.043863	0	20	75				
PCGF2	7703	broad.mit.edu	37	17	36896591	36896591	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896591C>T	ENST00000580830.1	-	4	766	c.65G>A	c.(64-66)gGg>gAg	p.G22E	PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAAGTACCCCCCGCAGAGGGC	0.622																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(64-66)gGg>gAg		polycomb group ring finger 2							111.0	106.0	108.0					17																	36896591		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896591C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.65G>A	17.37:g.36896591C>T	ENSP00000461961:p.Gly22Glu					PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E	p.G22E			P35227	PCGF2_HUMAN			4	766	-	Breast(7;9.07e-22)		22					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.65G>A	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041389	0.75732	.	.	ENSG00000056661	ENST00000360797	D	0.85861	-2.04	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.206931	0.40554	N	0.001062	D	0.84179	0.5415	L	0.27975	0.815	0.46011	D	0.998814	P	0.51240	0.943	P	0.57009	0.811	T	0.79734	-0.1679	10	0.15066	T	0.55	-22.9307	16.2761	0.82644	0.0:1.0:0.0:0.0	.	22	P35227	PCGF2_HUMAN	E	22	ENSP00000354033:G22E	ENSP00000354033:G22E	G	-	2	0	PCGF2	34150117	0.988000	0.35896	0.998000	0.56505	0.860000	0.49131	2.999000	0.49473	2.702000	0.92279	0.462000	0.41574	GGG		0.622	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		11	57	0	0	0	0.020292	0	11	57				
HIST1H1E	3008	broad.mit.edu	37	6	26156747	26156747	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:26156747C>T	ENST00000304218.3	+	1	189	c.129C>T	c.(127-129)ctC>ctT	p.L43L	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	43	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCCGAGCTCATTACTAAAG	0.627																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(127-129)ctC>ctT		histone cluster 1, H1e							21.0	27.0	25.0					6																	26156747		2202	4299	6501	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156747C>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.129C>T	6.37:g.26156747C>T							p.L43L	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	189	+			43			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.129C>T	CCDS4586.1																																																																																				0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		13	38	0	0	0	0.013537	0	13	38				
C15orf52	388115	broad.mit.edu	37	15	40630052	40630052	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:40630052C>T	ENST00000559313.1	-	6	703	c.688G>A	c.(688-690)Gag>Aag	p.E230K	C15orf52_ENST00000397536.2_Missense_Mutation_p.E20K|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	230							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCCGCCTCCGGGGGCTCC	0.697																																						ENST00000397536.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(58-60)Gag>Aag		chromosome 15 open reading frame 52							9.0	11.0	10.0					15																	40630052		2154	4256	6410	SO:0001583	missense	388115							g.chr15:40630052C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.688G>A	15.37:g.40630052C>T	ENSP00000453969:p.Glu230Lys					C15orf52_ENST00000559313.1_Missense_Mutation_p.E230K	p.E20K			Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	2	93	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	230					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.58G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835952	0.71373	.	.	ENSG00000188549	ENST00000382688;ENST00000397536;ENST00000397535	T	0.54479	0.57	4.63	4.63	0.57726	.	0.081616	0.44688	D	0.000425	T	0.67979	0.2951	M	0.72894	2.215	0.20489	N	0.999895	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.59820	-0.7382	10	0.21540	T	0.41	-15.9455	12.996	0.58646	0.0:1.0:0.0:0.0	.	20;162;230	Q6ZUT6-2;Q6ZUT6-3;Q6ZUT6	.;.;CO052_HUMAN	K	230;20;162	ENSP00000380670:E20K	ENSP00000372135:E230K	E	-	1	0	C15orf52	38417344	0.192000	0.23301	0.164000	0.22755	0.366000	0.29705	1.743000	0.38258	2.097000	0.63578	0.563000	0.77884	GAG		0.697	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		3	13	0	0	0	0.009096	0	3	13				
USP38	84640	broad.mit.edu	37	4	144109022	144109022	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:144109022G>A	ENST00000307017.4	+	2	1232	c.726G>A	c.(724-726)caG>caA	p.Q242Q	USP38_ENST00000510377.1_Silent_p.Q242Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	242					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCCTTGTGCAGCATATTCCTC	0.388																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(724-726)caG>caA		ubiquitin specific peptidase 38							103.0	95.0	98.0					4																	144109022		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144109022G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.726G>A	4.37:g.144109022G>A						USP38_ENST00000510377.1_Silent_p.Q242Q	p.Q242Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			2	1232	+	all_hematologic(180;0.158)		242					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.726G>A	CCDS3758.1																																																																																				0.388	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		3	49	0	0	0	0.004672	0	3	49				
SESN3	143686	broad.mit.edu	37	11	94963999	94963999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:94963999G>A	ENST00000536441.1	-	1	362	c.26C>T	c.(25-27)tCg>tTg	p.S9L	SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000543573.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000540692.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	9					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGCGGCGGCCGACGGGCTGCC	0.751																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(25-27)tCg>tTg		sestrin 3							6.0	10.0	9.0					11																	94963999		1906	3877	5783	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94963999G>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.26C>T	11.37:g.94963999G>A	ENSP00000441927:p.Ser9Leu					SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000534891.1_RNA	p.S9L	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	1	362	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	9					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.26C>T	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	g	14.12	2.440317	0.43326	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.23754	2.23;1.9;1.89	3.51	2.56	0.30785	.	0.405477	0.17910	U	0.157882	T	0.10637	0.0260	N	0.08118	0	0.24468	N	0.994409	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21895	-1.0232	10	0.21014	T	0.42	-14.1665	6.2253	0.20703	0.1099:0.1882:0.7018:0.0	.	9;9	P58005-3;P58005	.;SESN3_HUMAN	L	9	ENSP00000441927:S9L;ENSP00000376926:S9L;ENSP00000407008:S9L	ENSP00000376926:S9L	S	-	2	0	SESN3	94603647	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.608000	0.36847	1.804000	0.52760	0.556000	0.70494	TCG		0.751	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		5	9	0	0	0	0.014758	0	5	9				
TREM1	54210	broad.mit.edu	37	6	41254385	41254385	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:41254385C>T	ENST00000244709.4	-	1	72	c.9G>A	c.(7-9)aaG>aaA	p.K3K	TREM1_ENST00000589614.1_Silent_p.K3K|TREM1_ENST00000591620.1_Silent_p.K3K|TREM1_ENST00000334475.6_Silent_p.K3K	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	3					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGAGCCTGGTCTTCCTCATCC	0.582																																						ENST00000591620.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(7-9)aaG>aaA		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						92.0	84.0	87.0					6																	41254385		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254385C>T	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.9G>A	6.37:g.41254385C>T						TREM1_ENST00000334475.6_Silent_p.K3K|TREM1_ENST00000244709.4_Silent_p.K3K|TREM1_ENST00000589614.1_Silent_p.K3K	p.K3K	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN			1	35	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		3					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.9G>A	CCDS4854.1																																																																																				0.582	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		12	52	0	0	0	0.020292	0	12	52				
NAPG	8774	broad.mit.edu	37	18	10526109	10526109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr18:10526109C>T	ENST00000322897.6	+	1	79	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	4					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GATGGCGGCTCAGAAGATAAA	0.597																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(10-12)Cag>Tag		N-ethylmaleimide-sensitive factor attachment protein, gamma							48.0	57.0	54.0					18																	10526109		1962	4142	6104	SO:0001587	stop_gained	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10526109C>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.10C>T	18.37:g.10526109C>T	ENSP00000324628:p.Gln4*					NAPG_ENST00000542979.1_5'UTR	p.Q4*	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			1	79	+			4					B4DFC9|Q9BUV1	Nonsense_Mutation	SNP	ENST00000322897.6	37	c.10C>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	39	7.561878	0.98358	.	.	ENSG00000134265	ENST00000322897	.	.	.	5.15	5.15	0.70609	.	0.111193	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9878	16.1089	0.81244	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000324628:Q4X	Q	+	1	0	NAPG	10516109	1.000000	0.71417	0.978000	0.43139	0.956000	0.61745	5.979000	0.70508	2.392000	0.81423	0.555000	0.69702	CAG		0.597	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		3	28	0	0	0	0.004672	0	3	28				
ID2	3398	broad.mit.edu	37	2	8822537	8822537	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr2:8822537C>T	ENST00000234091.4	+	3	1102	c.242C>T	c.(241-243)tCg>tTg	p.S81L	AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Missense_Mutation_p.S81L|ID2_ENST00000396290.1_Missense_Mutation_p.S81L			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGGACTCGCATCCCACT	0.587																																						ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(241-243)tCg>tTg		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							69.0	71.0	70.0					2																	8822537		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822537C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.242C>T	2.37:g.8822537C>T	ENSP00000234091:p.Ser81Leu					ID2_ENST00000396290.1_Missense_Mutation_p.S81L|ID2_ENST00000331129.3_Missense_Mutation_p.S81L	p.S81L			Q02363	ID2_HUMAN			3	1102	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81						Missense_Mutation	SNP	ENST00000234091.4	37	c.242C>T	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541711	0.65198	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	D;D;D	0.98329	-4.87;-4.87;-4.87	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	L	0.59436	1.845	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	D	0.94318	0.7551	10	0.62326	D	0.03	-5.0979	19.5147	0.95159	0.0:1.0:0.0:0.0	.	81	Q02363	ID2_HUMAN	L	81	ENSP00000234091:S81L;ENSP00000379585:S81L;ENSP00000385465:S81L	ENSP00000234091:S81L	S	+	2	0	ID2	8739988	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.884000	0.69729	2.610000	0.88304	0.555000	0.69702	TCG		0.587	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		16	41	0	0	0	0.043863	0	16	41				
CTNND2	1501	broad.mit.edu	37	5	10973762	10973762	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:10973762G>C	ENST00000304623.8	-	22	3670	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1161					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGGAATTCTGAAATGGCTGG	0.532																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3481-3483)Cag>Gag		catenin (cadherin-associated protein), delta 2							124.0	107.0	113.0					5																	10973762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973762G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3481C>G	5.37:g.10973762G>C	ENSP00000307134:p.Gln1161Glu					CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E	p.Q1161E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			22	3670	-			1161					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3481C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043699	0.36085	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76968	-0.93;-1.01;-0.93;-1.06;-1.05	5.93	5.93	0.95920	.	0.542825	0.18585	N	0.136906	T	0.69628	0.3132	N	0.19112	0.55	0.58432	D	0.999996	B;B;B	0.14805	0.004;0.004;0.011	B;B;B	0.21360	0.006;0.034;0.013	T	0.61292	-0.7092	10	0.37606	T	0.19	-2.7109	20.3368	0.98748	0.0:0.0:1.0:0.0	.	824;753;1161	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	1161;1103;1070;256;728;824	ENSP00000307134:Q1161E;ENSP00000352661:Q1103E;ENSP00000426510:Q1070E;ENSP00000391155:Q728E;ENSP00000426887:Q824E	ENSP00000307134:Q1161E	Q	-	1	0	CTNND2	11026762	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	CAG		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		19	47	0	0	0	0.043863	0	19	47				
VTI1A	143187	broad.mit.edu	37	10	114298090	114298090	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:114298090G>A	ENST00000393077.2	+	5	543		c.e5+1		VTI1A_ENST00000432306.1_Splice_Site	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A						intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GTGGAAACCGGTAAGAATTCT	0.453			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.e5+1		vesicle transport through interaction with t-SNAREs 1A							101.0	104.0	103.0					10																	114298090		2203	4300	6503	SO:0001630	splice_region_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114298090G>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.427+1G>A	10.37:g.114298090G>A						VTI1A_ENST00000432306.1_Splice_Site		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	5	543	+		Colorectal(252;0.0314)|Breast(234;0.183)						A2A307|B4E137|Q5W0D7	Splice_Site	SNP	ENST00000393077.2	37		CCDS7575.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999303	0.74818	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTI1A	114288080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.102000	0.94226	2.835000	0.97688	0.650000	0.86243	.		0.453	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2		Intron	19	61	0	0	0	0.038395	0	19	61				
DCX	1641	broad.mit.edu	37	X	110653602	110653602	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:110653602C>A	ENST00000338081.3	-	2	439	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DCX_ENST00000371993.2_Missense_Mutation_p.D9Y|DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y|DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	90					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCTCTTTCGTCAAAGTGTCCA	0.507																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(268-270)Gac>Tac		doublecortin							105.0	96.0	99.0					X																	110653602		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653602C>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.268G>T	X.37:g.110653602C>A	ENSP00000337697:p.Asp90Tyr					DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y|DCX_ENST00000371993.2_Missense_Mutation_p.D9Y	p.D90Y	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	439	-			90					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.268G>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402444|4.402444	0.83230|0.83230	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	T;T;T;T;T;T|.	0.52754|.	1.5;1.5;1.38;1.5;1.5;0.65|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.54050|0.54050	-0.8351|-0.8351	10|5	0.87932|.	D|.	0|.	.|.	18.1845|18.1845	0.89789|0.89789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;90|.	B4DM53;O43602|.	.;DCX_HUMAN|.	Y|F	9;9;90;9;9;9|81	ENSP00000349385:D9Y;ENSP00000361061:D9Y;ENSP00000337697:D90Y;ENSP00000348553:D9Y;ENSP00000419861:D9Y;ENSP00000418811:D9Y|.	ENSP00000337697:D90Y|.	D|L	-|-	1|3	0|2	DCX|DCX	110540258|110540258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.651000|7.651000	0.83577|0.83577	2.487000|2.487000	0.83934|0.83934	0.513000|0.513000	0.50165|0.50165	GAC|TTG		0.507	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		27	112	1	0	1.16021e-09	0.034045	1.32595e-09	27	112				
SLC16A13	201232	broad.mit.edu	37	17	6939881	6939881	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:6939881C>T	ENST00000308027.6	+	1	488	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	60						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCATAGGAATCGCGGTGCAGC	0.637																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(178-180)atC>atT		solute carrier family 16, member 13							46.0	48.0	47.0					17																	6939881		2203	4300	6503	SO:0001819	synonymous_variant	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6939881C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.180C>T	17.37:g.6939881C>T							p.I60I	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			1	488	+			60					A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	c.180C>T	CCDS11085.1																																																																																				0.637	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			5	42	0	0	0	0.014758	0	5	42				
SNX29	92017	broad.mit.edu	37	16	12121194	12121194	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:12121194C>T	ENST00000566228.1	+	4	209	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	47	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTCTGTGTGCCCAGTTTGAA	0.572																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(139-141)gCc>gTc		sorting nexin 29							99.0	92.0	95.0					16																	12121194		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12121194C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.140C>T	16.37:g.12121194C>T	ENSP00000456480:p.Ala47Val						p.A47V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			4	209	+			0					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.140C>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060546	0.76074	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.89	4.89	0.63831	.	0.070768	0.56097	D	0.000040	T	0.67608	0.2911	L	0.55481	1.735	0.80722	D	1	.	.	.	.	.	.	T	0.62812	-0.6775	7	0.22706	T	0.39	-9.9373	15.9258	0.79615	0.0:1.0:0.0:0.0	.	.	.	.	V	47	.	ENSP00000268271:A47V	A	+	2	0	RUNDC2A	12028695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.124000	0.77185	2.406000	0.81754	0.549000	0.68633	GCC		0.572	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			27	57	0	0	0	0.027356	0	27	57				
IRF1	3659	broad.mit.edu	37	5	131822017	131822017	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:131822017G>A	ENST00000245414.4	-	7	851	c.593C>T	c.(592-594)cCa>cTa	p.P198L	IRF1_ENST00000405885.2_Missense_Mutation_p.P198L|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	198					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AACTTCCACTGGGATGTGCCA	0.582																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(592-594)cCa>cTa		interferon regulatory factor 1							89.0	89.0	89.0					5																	131822017		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822017G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.593C>T	5.37:g.131822017G>A	ENSP00000245414:p.Pro198Leu					IRF1_ENST00000405885.2_Missense_Mutation_p.P198L	p.P198L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	7	851	-		all_cancers(142;0.026)|Breast(839;0.198)	198					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.593C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827610	0.32329	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81821	-1.54;-1.54	4.99	4.09	0.47781	.	1.143530	0.06063	N	0.658702	T	0.72211	0.3432	.	.	.	0.18873	N	0.999985	B;B	0.28128	0.201;0.181	B;B	0.24541	0.016;0.054	T	0.57700	-0.7766	9	0.30078	T	0.28	-4.4167	12.6501	0.56755	0.0:0.0:0.6897:0.3103	.	198;198	Q5FBX3;P10914	.;IRF1_HUMAN	L	198	ENSP00000245414:P198L;ENSP00000384406:P198L	ENSP00000245414:P198L	P	-	2	0	IRF1	131849916	0.417000	0.25432	0.072000	0.20136	0.712000	0.41017	2.383000	0.44354	1.409000	0.46915	0.655000	0.94253	CCA		0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		4	88	0	0	0	0.009096	0	4	88				
PLXND1	23129	broad.mit.edu	37	3	129324718	129324718	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:129324718G>A	ENST00000324093.4	-	1	943	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PLXND1_ENST00000393239.1_Silent_p.F255F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	255	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTGAGGTCGAAGGTGAAGA	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(763-765)ttC>ttT		plexin D1							42.0	39.0	40.0					3																	129324718		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324718G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.765C>T	3.37:g.129324718G>A						PLXND1_ENST00000324093.4_Silent_p.F255F	p.F255F			Q9Y4D7	PLXD1_HUMAN			1	943	-			255			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.765C>T	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	15	0	0	0	0.004672	0	3	15				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(574-576)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	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_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*	p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	26	0	0	0	0.004482	0	9	26				
RPL9	6133	broad.mit.edu	37	4	39460022	39460022	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460022G>A	ENST00000449470.2	-	1	486	c.38C>T	c.(37-39)cCa>cTa	p.P13L	LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.P13L|LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ACCATTTTCTGGAATGTCGAC	0.468																																						ENST00000449470.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						c.(37-39)cCa>cTa		ribosomal protein L9							107.0	98.0	101.0					4																	39460022		2203	4300	6503	SO:0001583	missense	6133				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome	g.chr4:39460022G>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.38C>T	4.37:g.39460022G>A	ENSP00000400467:p.Pro13Leu					RPL9_ENST00000295955.9_Missense_Mutation_p.P13L	p.P13L	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN			1	486	-			13						Missense_Mutation	SNP	ENST00000449470.2	37	c.38C>T	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550149	0.96501	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.77	5.77	0.91146	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.90103	0.6908	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92760	0.6223	9	0.72032	D	0.01	.	18.9865	0.92773	0.0:0.0:1.0:0.0	.	13;13	B4DLV8;P32969	.;RL9_HUMAN	L	13	.	ENSP00000346022:P13L	P	-	2	0	RPL9	39136417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.267000	0.95665	2.724000	0.93272	0.561000	0.74099	CCA		0.468	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	45	0	0	0	0.008291	0	11	45				
RUFY3	22902	broad.mit.edu	37	4	71634264	71634264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:71634264C>A	ENST00000226328.4	+	5	1145	c.582C>A	c.(580-582)taC>taA	p.Y194*	RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	194	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GTGAATTCTACGAACCCAATG	0.388																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(580-582)taC>taA		RUN and FYVE domain containing 3							149.0	146.0	147.0					4																	71634264		2203	4300	6503	SO:0001587	stop_gained	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634264C>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.582C>A	4.37:g.71634264C>A	ENSP00000226328:p.Tyr194*					RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194*	p.Y194*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1145	+		all_hematologic(202;0.248)	194			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	c.582C>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545550	0.86022	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	.	.	.	5.53	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7693	9.1035	0.36683	0.0:0.1605:0.0:0.8395	.	.	.	.	X	130;254;194;194;178;130;141	.	ENSP00000226328:Y194X	Y	+	3	2	RUFY3	71853128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.642000	0.24735	0.938000	0.37419	-0.350000	0.07774	TAC		0.388	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	104	1	0	1.024e-07	0.014758	1.14066e-07	4	104				
SPSB3	90864	broad.mit.edu	37	16	1828539	1828539	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:1828539G>A	ENST00000566339.1	-	3	531	c.201C>T	c.(199-201)ggC>ggT	p.G67G	SPSB3_ENST00000301717.4_Silent_p.G67G	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	67					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGGACTCGCCGGTCACGG	0.677																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(199-201)ggC>ggT		splA/ryanodine receptor domain and SOCS box containing 3							73.0	76.0	75.0					16																	1828539		2198	4300	6498	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828539G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.201C>T	16.37:g.1828539G>A						SPSB3_ENST00000301717.4_Silent_p.G67G	p.G67G	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			3	531	-			67					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.201C>T	CCDS32365.1																																																																																				0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		16	58	0	0	0	0.012319	0	16	58				
TRIM10	10107	broad.mit.edu	37	6	30121959	30121959	+	Silent	SNP	G	G	A	rs562843566		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:30121959G>A	ENST00000449742.2	-	7	1308	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.001					ENST00000449742.2																			0				ovary(1)	1						c.(1231-1233)ttC>ttT		tripartite motif containing 10							47.0	35.0	39.0					6																	30121959		1510	2709	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121959G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1233C>T	6.37:g.30121959G>A						TRIM10_ENST00000376704.3_Intron	p.F411F	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1308	-			411			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1233C>T	CCDS34375.1																																																																																				0.672	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			11	23	0	0	0	0.016723	0	11	23				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	102	0	0	0	0.009096	0	4	102				
FGD2	221472	broad.mit.edu	37	6	36983609	36983609	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:36983609G>C	ENST00000274963.8	+	9	1266	c.1095G>C	c.(1093-1095)agG>agC	p.R365S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	365	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAGGTGAGGACCCGCATCG	0.612																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1093-1095)agG>agC		FYVE, RhoGEF and PH domain containing 2							68.0	57.0	61.0					6																	36983609		2203	4299	6502	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36983609G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1095G>C	6.37:g.36983609G>C	ENSP00000274963:p.Arg365Ser						p.R365S	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			9	1266	+			365			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1095G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734831	0.69189	.	.	ENSG00000146192	ENST00000274963	D	0.85556	-2.0	4.63	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.48286	D	0.000183	D	0.89736	0.6801	M	0.90814	3.15	0.39706	D	0.97126	D	0.76494	0.999	D	0.72982	0.979	D	0.89827	0.3993	10	0.87932	D	0	1.2561	5.735	0.18061	0.1744:0.2803:0.5453:0.0	.	365	Q7Z6J4	FGD2_HUMAN	S	365	ENSP00000274963:R365S	ENSP00000274963:R365S	R	+	3	2	FGD2	37091587	0.930000	0.31532	1.000000	0.80357	0.995000	0.86356	0.117000	0.15583	1.064000	0.40671	0.491000	0.48974	AGG		0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		2	6	0	0	0	0.004672	0	2	6				
IST1	9798	broad.mit.edu	37	16	71954709	71954709	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:71954709G>A	ENST00000378799.6	+	5	781	c.425G>A	c.(424-426)gGa>gAa	p.G142E	IST1_ENST00000535424.1_Missense_Mutation_p.G155E|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000329908.8_Missense_Mutation_p.G142E			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	142	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AACCAGATTGGAACTGTGAAT	0.413																																						ENST00000378799.6																			0											c.(424-426)gGa>gAa		increased sodium tolerance 1 homolog (yeast)							173.0	141.0	152.0					16																	71954709		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71954709G>A	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.425G>A	16.37:g.71954709G>A	ENSP00000368076:p.Gly142Glu					IST1_ENST00000329908.8_Missense_Mutation_p.G142E|IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.G155E|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA	p.G142E	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			5	781	+			142			Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.425G>A	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.045818|3.045818	0.55110|0.55110	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000541848|ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Domain of unknown function DUF292, eukaryotic (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63581|0.63581	0.2523|0.2523	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;1.0;0.542;0.999	.|D;D;B;D	.|0.76575	.|0.988;0.982;0.213;0.983	T|T	0.61212|0.61212	-0.7108|-0.7108	5|9	.|0.28530	.|T	.|0.3	-14.5355|-14.5355	19.9677|19.9677	0.97275|0.97275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;142;155	.|P53990;P53990-2;P53990-3;A8KAH5	.|IST1_HUMAN;.;.;.	K|E	29|155;142;138;131;142;142;80	.|.	.|ENSP00000330408:G142E	E|G	+|+	1|2	0|0	KIAA0174|KIAA0174	70512210|70512210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.727000|2.727000	0.93392|0.93392	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.413	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		3	83	0	0	0	0.004672	0	3	83				
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr18:15323340A>G	ENST00000455308.2	-	0	508				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299																																						ENST00000455308.2																			0																																																			0							g.chr18:15323340A>G																													18.37:g.15323340A>G								NR_027417.1						0	508	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.299	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			2	5	0	0	0	0.004672	0	2	5				
KTI12	112970	broad.mit.edu	37	1	52499429	52499429	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:52499429G>A	ENST00000371614.1	-	1	59	c.5C>T	c.(4-6)cCg>cTg	p.P2L	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	2							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCACGAGCGGCATCCTCTC	0.657																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(4-6)cCg>cTg		KTI12 homolog, chromatin associated (S. cerevisiae)							9.0	10.0	9.0					1																	52499429		2130	4179	6309	SO:0001583	missense	112970						ATP binding	g.chr1:52499429G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.5C>T	1.37:g.52499429G>A	ENSP00000360676:p.Pro2Leu					TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	p.P2L	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	59	-			2						Missense_Mutation	SNP	ENST00000371614.1	37	c.5C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393383	0.83011	.	.	ENSG00000198841	ENST00000371614	T	0.43688	0.94	5.06	5.06	0.68205	.	0.069384	0.64402	U	0.000020	T	0.70876	0.3274	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.77991	-0.2379	10	0.87932	D	0	.	15.2953	0.73902	0.0:0.0:1.0:0.0	.	2	Q96EK9	KTI12_HUMAN	L	2	ENSP00000360676:P2L	ENSP00000360676:P2L	P	-	2	0	KTI12	52272017	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	5.531000	0.67148	2.627000	0.88993	0.655000	0.94253	CCG		0.657	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	11	0	0	0	0.014758	0	4	11				
ASPM	259266	broad.mit.edu	37	1	197115496	197115496	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:197115496C>T	ENST00000367409.4	-	1	328	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ASPM_ENST00000294732.7_Silent_p.L24L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	24					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						cggggccccgcagccccgcgg	0.701																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(70-72)ctG>ctA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							11.0	16.0	14.0					1																	197115496		2146	4180	6326	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115496C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.72G>A	1.37:g.197115496C>T						ASPM_ENST00000294732.7_Silent_p.L24L	p.L24L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			1	328	-			24					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.72G>A	CCDS1389.1																																																																																				0.701	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	21	0	0	0	0.029380	0	6	21				
ZDHHC16	84287	broad.mit.edu	37	10	99213324	99213324	+	Silent	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:99213324G>C	ENST00000370854.3	+	6	783	c.594G>C	c.(592-594)cgG>cgC	p.R198R	ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R|ZDHHC16_ENST00000393760.1_Silent_p.R198R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370846.4_Intron	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATAACCATCGGTACTTCTTCT	0.483																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(592-594)cgG>cgC		zinc finger, DHHC-type containing 16							289.0	246.0	261.0					10																	99213324		2203	4300	6503	SO:0001819	synonymous_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213324G>C	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.594G>C	10.37:g.99213324G>C						ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000370854.3_Silent_p.R198R	p.R198R	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	7	943	+		Colorectal(252;0.0846)	198					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Silent	SNP	ENST00000370854.3	37	c.594G>C	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.575096	0.13623	.	.	ENSG00000171307	ENST00000420089;ENST00000417044	.	.	.	5.95	-1.23	0.09465	.	.	.	.	.	T	0.55800	0.1943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	-18.7209	10.2687	0.43470	0.1955:0.3872:0.4172:0.0	.	.	.	.	A	174;140	.	.	G	+	2	0	ZDHHC16	99203314	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	0.892000	0.28322	-0.100000	0.12241	-1.134000	0.01955	GGT		0.483	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		5	168	0	0	0	0.014758	0	5	168				
IFNL1	282618	broad.mit.edu	37	19	39787080	39787080	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:39787080G>A	ENST00000333625.2	+	1	116	c.19G>A	c.(19-21)Gtg>Atg	p.V7M		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	7					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										AGCTTGGACCGTGGTGCTGGT	0.567																																						ENST00000333625.2																			0											c.(19-21)Gtg>Atg		interferon, lambda 1							117.0	104.0	108.0					19																	39787080		2203	4300	6503	SO:0001583	missense	282618							g.chr19:39787080G>A	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.19G>A	19.37:g.39787080G>A	ENSP00000329991:p.Val7Met						p.V7M	NM_172140.1	NP_742152.1					1	116	+								A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	37	c.19G>A	CCDS12531.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647561	0.29246	.	.	ENSG00000182393	ENST00000333625	T	0.15487	2.42	3.71	2.65	0.31530	.	1.513180	0.04370	N	0.358921	T	0.12347	0.0300	L	0.36672	1.1	0.09310	N	1	P	0.41673	0.759	B	0.26969	0.075	T	0.31943	-0.9925	10	0.34782	T	0.22	-3.5037	8.8016	0.34912	0.0:0.7153:0.2847:0.0	.	7	Q8IU54	IL29_HUMAN	M	7	ENSP00000329991:V7M	ENSP00000329991:V7M	V	+	1	0	IL29	44478920	0.000000	0.05858	0.008000	0.14137	0.505000	0.33919	-0.318000	0.08050	0.764000	0.33197	0.450000	0.29827	GTG		0.567	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		19	60	0	0	0	0.012319	0	19	60				
FREM1	158326	broad.mit.edu	37	9	14824915	14824915	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:14824915C>A	ENST00000380880.3	-	11	2740	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	FREM1_ENST00000380881.4_Missense_Mutation_p.V654F|FREM1_ENST00000422223.2_Missense_Mutation_p.V653F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	653					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTCCTTGACAACCAAATGC	0.418																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1960-1962)Gtc>Ttc		FRAS1 related extracellular matrix 1							89.0	83.0	85.0					9																	14824915		1834	4083	5917	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824915C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1957G>T	9.37:g.14824915C>A	ENSP00000370262:p.Val653Phe					FREM1_ENST00000422223.2_Missense_Mutation_p.V653F|FREM1_ENST00000380880.3_Missense_Mutation_p.V653F	p.V654F			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	12	2775	-			653					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1960G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120134	0.77323	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.161583	0.56097	D	0.000037	T	0.76111	0.3942	M	0.89534	3.04	0.52501	D	0.999956	D	0.71674	0.998	D	0.71414	0.973	T	0.79983	-0.1573	10	0.87932	D	0	-19.4499	20.3206	0.98668	0.0:1.0:0.0:0.0	.	653	Q5H8C1	FREM1_HUMAN	F	654;653;653	ENSP00000370263:V654F;ENSP00000412940:V653F;ENSP00000370262:V653F	ENSP00000370257:V656F	V	-	1	0	FREM1	14814915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.883000	0.39658	2.809000	0.96659	0.655000	0.94253	GTC		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	35	1	0	7.48243e-07	0.006214	8.23067e-07	8	35				
PPP6C	5537	broad.mit.edu	37	9	127915858	127915858	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:127915858C>G	ENST00000373547.4	-	6	722	c.623G>C	c.(622-624)aGt>aCt	p.S208T	PPP6C_ENST00000451402.1_Missense_Mutation_p.S245T|PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	208					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTCGGGGACTGATAGCCCA	0.438																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(733-735)aGt>aCt		protein phosphatase 6, catalytic subunit							80.0	75.0	77.0					9																	127915858		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915858C>G	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.623G>C	9.37:g.127915858C>G	ENSP00000362648:p.Ser208Thr					PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T|PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000373547.4_Missense_Mutation_p.S208T	p.S245T	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	954	-			208					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.734G>C	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840940	0.91197	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.997;0.998	D	0.91413	0.5152	10	0.87932	D	0	-11.1956	18.9632	0.92684	0.0:1.0:0.0:0.0	.	186;245;208	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	208;245;186;61	ENSP00000362648:S208T;ENSP00000392147:S245T;ENSP00000411744:S186T;ENSP00000362647:S61T	ENSP00000362647:S61T	S	-	2	0	PPP6C	126955679	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	AGT		0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		14	10	0	0	0	0.016723	0	14	10				
CASZ1	54897	broad.mit.edu	37	1	10720553	10720553	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:10720553C>T	ENST00000377022.3	-	6	863	c.546G>A	c.(544-546)atG>atA	p.M182I	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	182					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAACTCGGTCATGGTGGAGG	0.652																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(544-546)atG>atA		castor zinc finger 1							31.0	32.0	32.0					1																	10720553		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720553C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.546G>A	1.37:g.10720553C>T	ENSP00000366221:p.Met182Ile					CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I	p.M182I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	863	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	182					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.546G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020816	0.75275	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.22	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.34521	1.04	0.30753	N	0.744911	D;D;D;B	0.63880	0.984;0.993;0.984;0.417	P;P;P;B	0.61874	0.712;0.895;0.786;0.085	T	0.58393	-0.7644	9	0.72032	D	0.01	-23.3279	13.6498	0.62304	0.0:0.8439:0.1561:0.0	.	206;182;182;182	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	I	182	.	ENSP00000339445:M182I	M	-	3	0	CASZ1	10643140	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.629000	0.67798	2.081000	0.62600	0.491000	0.48974	ATG		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	21	0	0	0	0.029380	0	5	21				
C11orf53	341032	broad.mit.edu	37	11	111154827	111154827	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:111154827G>A	ENST00000280325.4	+	3	181	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	12								p.G12C(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGTTACTACGGTGTCAGAAG	0.502											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280325.4																			1	Substitution - Missense(1)	p.G12C(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(34-36)Ggt>Agt		chromosome 11 open reading frame 53							145.0	146.0	146.0					11																	111154827		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154827G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.34G>A	11.37:g.111154827G>A	ENSP00000280325:p.Gly12Ser		OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1433		p.G12S	NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	181	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	12						Missense_Mutation	SNP	ENST00000280325.4	37	c.34G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461730	0.84425	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	L	0.60455	1.87	0.53688	D	0.999979	D	0.76494	0.999	D	0.66602	0.945	T	0.70335	-0.4900	9	0.31617	T	0.26	-19.5702	18.9569	0.92662	0.0:0.0:1.0:0.0	.	12	Q8IXP5	CK053_HUMAN	S	12	.	ENSP00000280325:G12S	G	+	1	0	C11orf53	110660037	1.000000	0.71417	0.235000	0.24058	0.962000	0.63368	5.780000	0.68956	2.826000	0.97356	0.563000	0.77884	GGT		0.502	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		7	178	0	0	0	0.029380	0	7	178				
RYR3	6263	broad.mit.edu	37	15	33833092	33833092	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:33833092G>A	ENST00000389232.4	+	7	716		c.e7+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCGAAGAAGGTGTGCTTCTT	0.428																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e7+1		ryanodine receptor 3							99.0	96.0	97.0					15																	33833092		1987	4152	6139	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33833092G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.646+1G>A	15.37:g.33833092G>A						RYR3_ENST00000415757.3_Splice_Site		NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	7	716	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37		CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670326	0.88348	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.95	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7944	0.69868	0.0695:0.0:0.9305:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31620384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.755000	0.98912	1.534000	0.49203	0.655000	0.94253	.		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	6	62	0	0	0	0.021553	0	6	62				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	28	0	0	0	0.004672	0	3	28				
CASP3	836	broad.mit.edu	37	4	185550615	185550615	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:185550615G>A	ENST00000308394.4	-	8	907	c.645C>T	c.(643-645)ttC>ttT	p.F215F	CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000393585.2_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	215					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	GCGACTGGATGAACCAGGAGC	0.393																																						ENST00000393585.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(523-525)tCa>tTa		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						64.0	60.0	62.0					4																	185550615		2203	4300	6503	SO:0001819	synonymous_variant	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550615G>A	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.645C>T	4.37:g.185550615G>A						CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000308394.4_Silent_p.F215F	p.S175L			P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	7	858	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	0					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.524C>T	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571486	0.65765	.	.	ENSG00000164305	ENST00000393585;ENST00000517513;ENST00000393588	T;T;T	0.05580	3.42;3.42;3.42	5.69	2.43	0.29744	.	.	.	.	.	T	0.06280	0.0162	.	.	.	0.24896	N	0.992131	B	0.14805	0.011	B	0.20184	0.028	T	0.31420	-0.9944	8	0.87932	D	0	.	8.603	0.33756	0.2021:0.1316:0.6663:0.0	.	175	A8MVM1	.	L	175	ENSP00000377210:S175L;ENSP00000428372:S175L;ENSP00000377213:S175L	ENSP00000377210:S175L	S	-	2	0	CASP3	185787609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.951000	0.40333	0.679000	0.31345	0.650000	0.86243	TCA		0.393	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		15	42	0	0	0	0.038395	0	15	42				
STK31	56164	broad.mit.edu	37	7	23749845	23749845	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr7:23749845A>T	ENST00000355870.3	+	0	60				STK31_ENST00000354639.3_5'Flank|STK31_ENST00000428484.1_5'Flank|STK31_ENST00000433467.2_5'Flank	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGCGGTCGAAGCTCACGCG	0.662																																						ENST00000355870.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67								serine/threonine kinase 31							95.0	93.0	93.0					7																	23749845		692	1591	2283			56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23749845A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053		7.37:g.23749845A>T								NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN			0	60	+								B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Translation_Start_Site	SNP	ENST00000355870.3	37		CCDS5386.1																																																																																				0.662	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		11	21	0	0	0	0.013537	0	11	21				
SQLE	6713	broad.mit.edu	37	8	126033114	126033114	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:126033114G>A	ENST00000265896.5	+	10	2430		c.e10+1		SQLE_ENST00000523430.1_Splice_Site	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase						cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCTTTCTGTGTAAGTTGTGA	0.383																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.e10+1		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						93.0	93.0	93.0					8																	126033114		1901	4120	6021	SO:0001630	splice_region_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126033114G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1532+1G>A	8.37:g.126033114G>A						SQLE_ENST00000523430.1_Splice_Site		NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		10	2430	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)							Q9UEK6	Splice_Site	SNP	ENST00000265896.5	37		CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904569	0.92035	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SQLE	126102296	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.278000	0.95766	2.941000	0.99782	0.655000	0.94253	.		0.383	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	Intron	6	17	0	0	0	0.021553	0	6	17				
NMBR	4829	broad.mit.edu	37	6	142409595	142409595	+	Silent	SNP	G	G	A	rs368028844		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:142409595G>A	ENST00000258042.1	-	1	341	c.201C>T	c.(199-201)atC>atT	p.I67I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	67					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTGATGAAGATCTTCACCA	0.602																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(199-201)atC>atT		neuromedin B receptor		G		0,4406		0,0,2203	89.0	80.0	83.0		201	4.7	1.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NMBR	NM_002511.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		67/391	142409595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409595G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.201C>T	6.37:g.142409595G>A						RP11-137J7.2_ENST00000454401.1_RNA	p.I67I	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	341	-	Breast(32;0.155)		67					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.201C>T	CCDS5196.1																																																																																				0.602	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			15	24	0	0	0	0.024245	0	15	24				
SNORD3B-1	26851	broad.mit.edu	37	17	18967379	18967379	+	lincRNA	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:18967379C>T	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		tcggggttttcggtgctctac	0.498																																						ENST00000364880.1																			0																				9.0	18.0	17.0					17																	18967379		387	1905	2292			0							g.chr17:18967379C>T	AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967379C>T														0	70	-									RNA	SNP	ENST00000363359.1	37																																																																																						0.498	SNORD3B-1-201	KNOWN	basic	snoRNA	lincRNA		NR_003271		9	32	0	0	0	0.006214	0	9	32				
CCDC80	151887	broad.mit.edu	37	3	112357200	112357200	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:112357200G>T	ENST00000206423.3	-	2	2506	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	518	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCCAGCTGAGAGGCAGTAGG	0.473																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1552-1554)tCt>tAt		coiled-coil domain containing 80							62.0	65.0	64.0					3																	112357200		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357200G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1553C>A	3.37:g.112357200G>T	ENSP00000206423:p.Ser518Tyr					CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y	p.S518Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2506	-			518			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1553C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097691	0.76870	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	.	0.325516	0.35096	N	0.003447	T	0.58119	0.2100	L	0.27053	0.805	0.39618	D	0.969988	D;D;D	0.67145	0.996;0.989;0.989	D;P;P	0.65874	0.939;0.817;0.781	T	0.61931	-0.6961	10	0.72032	D	0.01	-14.3876	20.0211	0.97503	0.0:0.0:1.0:0.0	.	529;518;518	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Y	518;518;146	ENSP00000206423:S518Y;ENSP00000411814:S518Y	ENSP00000206423:S518Y	S	-	2	0	CCDC80	113839890	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.467000	0.66737	2.741000	0.93983	0.555000	0.69702	TCT		0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		24	53	1	0	1.96895e-08	0.016522	2.22138e-08	24	53				
RPL9	6133	broad.mit.edu	37	4	39460023	39460023	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460023G>A	ENST00000449470.2	-	1	485	c.37C>T	c.(37-39)Cca>Tca	p.P13S	LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.P13S|LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CCATTTTCTGGAATGTCGACA	0.473																																						ENST00000449470.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						c.(37-39)Cca>Tca		ribosomal protein L9							107.0	99.0	101.0					4																	39460023		2203	4300	6503	SO:0001583	missense	6133				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome	g.chr4:39460023G>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.37C>T	4.37:g.39460023G>A	ENSP00000400467:p.Pro13Ser					RPL9_ENST00000295955.9_Missense_Mutation_p.P13S	p.P13S	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN			1	485	-			13						Missense_Mutation	SNP	ENST00000449470.2	37	c.37C>T	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430539	0.96150	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.77	5.77	0.91146	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.90027	0.6886	H	0.96691	3.865	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.77557	0.99;0.962	D	0.92828	0.6278	9	0.87932	D	0	.	18.9865	0.92773	0.0:0.0:1.0:0.0	.	13;13	B4DLV8;P32969	.;RL9_HUMAN	S	13	.	ENSP00000346022:P13S	P	-	1	0	RPL9	39136418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.267000	0.95665	2.724000	0.93272	0.561000	0.74099	CCA		0.473	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	44	0	0	0	0.008291	0	11	44				
MYO10	4651	broad.mit.edu	37	5	16689986	16689986	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:16689986G>A	ENST00000513610.1	-	28	4297	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	MYO10_ENST00000427430.2_Silent_p.I638I|MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000515803.1_Silent_p.I620I|MYO10_ENST00000505695.1_Silent_p.I620I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1281	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGCCATAATGATGTCGATCC	0.468																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3841-3843)atC>atT		myosin X							186.0	183.0	184.0					5																	16689986		2083	4220	6303	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689986G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3843C>T	5.37:g.16689986G>A						MYO10_ENST00000515803.1_Silent_p.I620I|MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000505695.1_Silent_p.I620I|MYO10_ENST00000427430.2_Silent_p.I638I	p.I1281I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4297	-			1281			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3843C>T	CCDS54834.1																																																																																				0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	49	0	0	0	0.009096	0	3	49				
GABRA3	2556	broad.mit.edu	37	X	151336929	151336929	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:151336929G>T	ENST00000370314.4	-	10	1488	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCGCCCTTGGAGATGGTGGA	0.557																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1249-1251)tCc>tAc		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						288.0	235.0	253.0					X																	151336929		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336929G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1250C>A	X.37:g.151336929G>T	ENSP00000359337:p.Ser417Tyr					RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417Y|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y	p.S417Y	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1488	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1250C>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128935	0.77549	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82167	-1.58;-1.58;-1.58	4.71	4.71	0.59529	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.029980	0.07604	N	0.924197	D	0.84973	0.5591	L	0.39245	1.2	0.51482	D	0.999923	D	0.55385	0.971	P	0.52109	0.69	T	0.80039	-0.1549	10	0.72032	D	0.01	.	14.4152	0.67145	0.0:0.0:1.0:0.0	.	417	P34903	GBRA3_HUMAN	Y	417	ENSP00000359337:S417Y;ENSP00000359334:S417Y;ENSP00000443527:S417Y	ENSP00000359334:S417Y	S	-	2	0	GABRA3	151087585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.748000	0.98867	2.069000	0.61940	0.597000	0.82753	TCC		0.557	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		7	248	1	0	0.00198382	0.029380	0.00210333	7	248				
PCGF2	7703	broad.mit.edu	37	17	36896590	36896590	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896590C>T	ENST00000580830.1	-	4	767	c.66G>A	c.(64-66)ggG>ggA	p.G22G	PCGF2_ENST00000360797.2_Silent_p.G22G|PCGF2_ENST00000579882.1_Silent_p.G22G|PCGF2_ENST00000581345.1_Silent_p.G22G|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Silent_p.G22G			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TGAAGTACCCCCCGCAGAGGG	0.627																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(64-66)ggG>ggA		polycomb group ring finger 2							111.0	106.0	108.0					17																	36896590		2203	4300	6503	SO:0001819	synonymous_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896590C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.66G>A	17.37:g.36896590C>T						PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Silent_p.G22G|PCGF2_ENST00000585100.1_Silent_p.G22G|PCGF2_ENST00000360797.2_Silent_p.G22G|PCGF2_ENST00000581345.1_Silent_p.G22G	p.G22G			P35227	PCGF2_HUMAN			4	767	-	Breast(7;9.07e-22)		22					A6NGD8	Silent	SNP	ENST00000580830.1	37	c.66G>A	CCDS32638.1																																																																																				0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		10	57	0	0	0	0.016723	0	10	57				
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		7	229						7	229	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975832	31975833	+	5'Flank	INS	-	-	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:31975832_31975833insC	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGGGCCGGGGGCCTGCCATGAA	0.658																																						ENST00000342991.6																			0																	30,192		8,14,89						1.3	0.0			5	197,1507		26,145,681	no	intergenic				34,159,770	A1A1,A1R,RR		11.561,13.5135,11.7861				227,1699				SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975832_31975833insC																													6.37:g.31975834_31975834dupC	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1653	+									RNA	INS	ENST00000594256.1	37																																																																																						0.658	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				4	9						4	9	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	5						3	5	---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95738654	95738657	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:95738654_95738657delGAAA	ENST00000414645.2	+	2	211_214	c.112_115delGAAA	c.(112-117)gaaagafs	p.ER38fs		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	38						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCCAATTCCTGAAAGAGCTCCAAA	0.328																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(112-117)gafs		dpy-19-like 4 (C. elegans)																																				SO:0001589	frameshift_variant	286148					integral to membrane		g.chr8:95738654_95738657delGAAA		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.112_115delGAAA	8.37:g.95738654_95738657delGAAA	ENSP00000389630:p.Glu38fs						p.ER38fs	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			2	211_214	+	Breast(36;3.85e-06)		38					Q6ZW32|Q6ZW42|Q7Z329	Frame_Shift_Del	DEL	ENST00000414645.2	37	c.112_115delGAAA	CCDS34924.1																																																																																				0.328	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		8	29						8	29	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94230120	94230120	+	Intron	DEL	A	A	-			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:94230120delA	ENST00000544612.1	+	2	755				ANKRD49_ENST00000544253.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000302755.4_Intron	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAATCGGGTAAAAAAAAAAA	0.393																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(259-261)gtfs		ankyrin repeat domain 49				63,63,3768		1,3,58,3,54,1828	61.0	68.0	66.0			5.9	1.0	11		67	116,163,7783		4,1,107,2,158,3759	no	intron	ANKRD49	NM_017704.2		5,4,165,5,212,5587	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4607,3.2357,3.3874			94230120	179,226,11551	2089	4253	6342	SO:0001627	intron_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230120delA	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+3A>-	11.37:g.94230120delA						ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs	p.V87fs			Q8WVL7	ANR49_HUMAN			2	379	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	87					Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Del	DEL	ENST00000544612.1	37	c.261delA	CCDS8300.1																																																																																				0.393	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		9	145						9	145	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105352853	105352854	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr14:105352853_105352854insG	ENST00000414716.3	+	12	2505_2506	c.2277_2278insG	c.(2278-2280)gagfs	p.E760fs	CEP170B_ENST00000453495.1_Frame_Shift_Ins_p.E761fs|CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.E690fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.E690fs	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	760						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCGAGGCCCCGAGCCAGGGGT	0.723																																						ENST00000453495.1																			0											c.(2278-2283)ccagccfs		centrosomal protein 170B																																				SO:0001589	frameshift_variant	283638							g.chr14:105352853_105352854insG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2278dupG	14.37:g.105352854_105352854dupG	ENSP00000404151:p.Glu760fs					CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.A690fs|CEP170B_ENST00000414716.3_Frame_Shift_Ins_p.A760fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.A690fs	p.A761fs							12	2508_2509	+								Q2KHR7|Q86TI7	Frame_Shift_Ins	INS	ENST00000414716.3	37	c.2280_2281insG	CCDS45175.1																																																																																				0.723	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		2	4						2	4	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-	rs368280985		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:29372348delT	ENST00000507381.1	+	0	497				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TGGGAGGttgttttttttttt	0.478																																						ENST00000398878.3																			0																																																			0							g.chr16:29372348delT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29372348delT						SNX29P2_ENST00000507381.1_RNA								0	1186	+									RNA	DEL	ENST00000507381.1	37																																																																																						0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		3	4						3	4	---	---	---	---
