#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
RAP2C	57826	broad.mit.edu	37	X	131348282	131348282	+	Missense_Mutation	SNP	G	G	T	rs371502735		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:131348282G>T	ENST00000342983.2	-	3	1212	c.466C>A	c.(466-468)Ctt>Att	p.L156I	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	156					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAAAAAGTTCATCCACC	0.443																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(466-468)Ctt>Att		RAP2C, member of RAS oncogene family							141.0	116.0	124.0					X																	131348282		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348282G>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.466C>A	X.37:g.131348282G>T	ENSP00000340274:p.Leu156Ile					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I	p.L156I	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1212	-	Acute lymphoblastic leukemia(192;0.000127)		156					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.466C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984417	0.18889	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.82081	-1.57;-1.57	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	N	0.04162	-0.26	0.44477	D	0.997419	B	0.09022	0.002	B	0.20384	0.029	T	0.64483	-0.6397	10	0.02654	T	1	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	156	Q9Y3L5	RAP2C_HUMAN	I	156	ENSP00000340274:L156I;ENSP00000359911:L156I	ENSP00000340274:L156I	L	-	1	0	RAP2C	131175963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.363000	0.80096	0.556000	0.70494	CTT		0.443	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		9	133	1	0	0.00621372	1	0.00644385	9	133				
PCIF1	63935	broad.mit.edu	37	20	44569128	44569128	+	Silent	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:44569128G>T	ENST00000372409.3	+	5	628	c.264G>T	c.(262-264)ggG>ggT	p.G88G		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	88					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCCTTTGGGGCTGAATGCGA	0.622																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(262-264)ggG>ggT		PDX1 C-terminal inhibiting factor 1							25.0	21.0	22.0					20																	44569128		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44569128G>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.264G>T	20.37:g.44569128G>T							p.G88G	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			5	628	+			88					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.264G>T	CCDS13388.1																																																																																				0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		3	11	1	0	1	1	1	3	11				
DDX26B	203522	broad.mit.edu	37	X	134707958	134707958	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:134707958C>T	ENST00000370752.4	+	12	1935	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	534										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGAAAACGCACAAGTTT	0.358																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1600-1602)aCg>aTg		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							53.0	52.0	52.0					X																	134707958		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134707958C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1601C>T	X.37:g.134707958C>T	ENSP00000359788:p.Thr534Met					DDX26B_ENST00000493637.1_3'UTR	p.T534M	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			12	1935	+	Acute lymphoblastic leukemia(192;6.56e-05)		534					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1601C>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068679	0.36470	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	5.5	3.74	0.42951	.	0.259697	0.44097	N	0.000485	T	0.46367	0.1389	M	0.67953	2.075	0.38415	D	0.946034	D;B	0.59357	0.985;0.318	P;B	0.53593	0.73;0.109	T	0.44329	-0.9335	10	0.37606	T	0.19	-0.2984	10.4292	0.44398	0.0:0.8385:0.0:0.1615	.	534;534	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	M	534	ENSP00000359788:T534M	ENSP00000359788:T534M	T	+	2	0	DDX26B	134535624	0.937000	0.31787	0.334000	0.25495	0.983000	0.72400	2.049000	0.41288	0.516000	0.28340	-0.192000	0.12808	ACG		0.358	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	60	0	0	0	1	0	5	60				
ILK	3611	broad.mit.edu	37	11	6630830	6630830	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:6630830G>T	ENST00000396751.2	+	8	1272	c.816G>T	c.(814-816)atG>atT	p.M272I	ILK_ENST00000528995.1_Missense_Mutation_p.M211I|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000299421.4_Missense_Mutation_p.M272I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CACACTGGATGCCGTATGGAT	0.517																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(814-816)atG>atT		integrin-linked kinase							154.0	138.0	143.0					11																	6630830		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6630830G>T	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.816G>T	11.37:g.6630830G>T	ENSP00000379975:p.Met272Ile					RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Missense_Mutation_p.M272I|ILK_ENST00000528995.1_Missense_Mutation_p.M211I	p.M272I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	8	1272	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	272			Protein kinase.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.816G>T	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070677	0.55539	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.80746	2.51	0.80722	D	1	B;B	0.18863	0.031;0.017	B;B	0.28784	0.094;0.066	D	0.85916	0.1443	10	0.26408	T;T	0.33;0.33	.	18.6556	0.91452	0.0:0.0:1.0:0.0	.	211;272	B7Z418;Q13418	.;ILK_HUMAN	I	272;138;272;211;272	ENSP00000299421:M272I;ENSP00000439606:M138I;ENSP00000403487:M272I;ENSP00000435323:M211I;ENSP00000379975:M272I	ENSP00000299421:M272I;ENSP00000299421:M272I	M	+	3	0	ILK	6587406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.033000	0.93741	2.884000	0.98904	0.655000	0.94253	ATG		0.517	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		4	110	1	0	0.150653	1	0.152469	4	110				
PHEX	5251	broad.mit.edu	37	X	22094543	22094543	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:22094543C>T	ENST00000379374.4	+	4	952	c.387C>T	c.(385-387)acC>acT	p.T129T	PHEX_ENST00000535894.1_Silent_p.T32T|PHEX_ENST00000537599.1_Silent_p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	129					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCGGGACACCGAAGCCATAC	0.388																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(385-387)acC>acT		phosphate regulating endopeptidase homolog, X-linked							99.0	90.0	93.0					X																	22094543		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22094543C>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.387C>T	X.37:g.22094543C>T						PHEX_ENST00000537599.1_Silent_p.T129T|PHEX_ENST00000535894.1_Silent_p.T32T	p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			4	952	+			129					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.387C>T	CCDS14204.1																																																																																				0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		17	30	0	0	0	1	0	17	30				
MTPN	136319	broad.mit.edu	37	7	135614721	135614721	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:135614721C>A	ENST00000393085.3	-	4	525	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	LUZP6_ENST00000589735.1_5'Flank|AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	104					catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634)		p.A104T(1)		endometrium(1)|lung(4)|prostate(1)	6						GCTTCAAAGGCGGTCAGTCCA	0.502																																						ENST00000393085.3																			1	Substitution - Missense(1)	p.A104T(1)	endometrium(1)	endometrium(1)|lung(4)|prostate(1)	6						c.(310-312)Gcc>Tcc		myotrophin							208.0	161.0	177.0					7																	135614721		2203	4300	6503	SO:0001583	missense	136319				cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	g.chr7:135614721C>A	AC015987	CCDS5842.1	7q33-q35	2013-01-10			ENSG00000105887	ENSG00000105887		"""Ankyrin repeat domain containing"""	15667	protein-coding gene	gene with protein product	"""granule cell differentiation protein"""	606484				11474205	Standard	NM_145808		Approved	MYOTROPHIN, GCDP, V-1		P58546	OTTHUMG00000155627	ENST00000393085.3:c.310G>T	7.37:g.135614721C>A	ENSP00000376800:p.Ala104Ser					AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	p.A104S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN			4	525	-			104						Missense_Mutation	SNP	ENST00000393085.3	37	c.310G>T	CCDS5842.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323102	0.41096	.	.	ENSG00000105887	ENST00000393085;ENST00000435723	T	0.41065	1.01	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	L	0.48362	1.52	0.58432	D	0.999998	P	0.49358	0.923	D	0.69824	0.966	T	0.54589	-0.8271	10	0.51188	T	0.08	.	18.1147	0.89549	0.0:1.0:0.0:0.0	.	104	P58546	MTPN_HUMAN	S	104;38	ENSP00000376800:A104S	ENSP00000376800:A104S	A	-	1	0	MTPN	135265261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.882000	0.98803	0.655000	0.94253	GCC		0.502	MTPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340921.1	NM_145808		16	221	1	0	4.63292e-17	1	5.1206e-17	16	221				
DOK6	220164	broad.mit.edu	37	18	67406223	67406223	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:67406223C>T	ENST00000382713.5	+	6	812	c.622C>T	c.(622-624)Cta>Tta	p.L208L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	208	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGAAGGACTATTCACTTT	0.418																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(622-624)Cta>Tta		docking protein 6							154.0	151.0	152.0					18																	67406223		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67406223C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.622C>T	18.37:g.67406223C>T						DOK6_ENST00000584435.1_3'UTR	p.L208L	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			6	812	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	208			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.622C>T	CCDS32841.1																																																																																				0.418	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		5	114	0	0	0	1	0	5	114				
OR13J1	392309	broad.mit.edu	37	9	35869709	35869709	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr9:35869709C>T	ENST00000377981.2	-	1	752	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGGCGGCCGAGGGCACCC	0.587																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(688-690)tcG>tcA		olfactory receptor, family 13, subfamily J, member 1							57.0	52.0	54.0					9																	35869709		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869709C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.690G>A	9.37:g.35869709C>T							p.S230S	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	752	-	all_epithelial(49;0.169)		230					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.690G>A	CCDS35011.1																																																																																				0.587	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			3	36	0	0	0	1	0	3	36				
RBM28	55131	broad.mit.edu	37	7	127983808	127983808	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:127983808A>C	ENST00000223073.2	-	1	154	c.40T>G	c.(40-42)Tcg>Gcg	p.S14A	RNU7-27P_ENST00000459281.1_RNA|RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	14	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGCGGGCCGAGGGCGGGAGG	0.662																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(40-42)Tcg>Gcg		RNA binding motif protein 28							23.0	19.0	21.0					7																	127983808		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127983808A>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.40T>G	7.37:g.127983808A>C	ENSP00000223073:p.Ser14Ala					RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			1	154	-			14			RRM 1.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.40T>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803772	0.70682	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061;ENST00000459726	T;T;T;T	0.75589	1.2;-0.95;3.28;3.28	5.76	4.58	0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.399244	0.27354	N	0.019747	T	0.74981	0.3788	L	0.50993	1.605	0.09310	N	1	P;P	0.50272	0.76;0.933	P;P	0.52646	0.484;0.705	T	0.66909	-0.5804	10	0.54805	T	0.06	-4.2987	8.7461	0.34587	0.6966:0.0:0.0:0.3034	.	14;14	E9PDD9;Q9NW13	.;RBM28_HUMAN	A	14	ENSP00000223073:S14A;ENSP00000390517:S14A;ENSP00000418071:S14A;ENSP00000420503:S14A	ENSP00000223073:S14A	S	-	1	0	RBM28	127771044	1.000000	0.71417	0.841000	0.33234	0.536000	0.34869	2.183000	0.42565	1.073000	0.40885	0.528000	0.53228	TCG		0.662	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		3	19	0	0	0	1	0	3	19				
STK19	8859	broad.mit.edu	37	6	31948281	31948281	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:31948281T>C	ENST00000375333.2	+	6	922	c.869T>C	c.(868-870)cTa>cCa	p.L290P	C4A_ENST00000428956.2_5'Flank|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L286P	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	290					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						AGCTGGTGGCTAGCTGTGCCT	0.577																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(856-858)cTa>cCa		serine/threonine kinase 19							79.0	69.0	72.0					6																	31948281		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31948281T>C	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.869T>C	6.37:g.31948281T>C	ENSP00000364482:p.Leu290Pro					STK19_ENST00000375333.2_Missense_Mutation_p.L290P	p.L286P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			6	1023	+			290					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.857T>C	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314801	0.81358	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.38560	1.13;1.13	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.54046	0.1834	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.60855	-0.7180	10	0.87932	D	0	-9.4782	13.8098	0.63256	0.0:0.0:0.0:1.0	.	243;286;290;243	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	P	286;290	ENSP00000364480:L286P;ENSP00000364482:L290P	ENSP00000364480:L286P	L	+	2	0	STK19	32056260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.613000	0.74192	1.915000	0.55452	0.454000	0.30748	CTA		0.577	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			3	47	0	0	0	1	0	3	47				
DNASE1L1	1774	broad.mit.edu	37	X	153641818	153641818	+	5'Flank	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153641818G>T	ENST00000393638.1	-	0	0				TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000475699.1_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site|TAZ_ENST00000299328.5_Splice_Site|DNASE1L1_ENST00000369809.1_5'Flank	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCTGCTTAGGACCCCTGCA	0.622																																						ENST00000299328.5																			0				lung(1)	1						c.e4-1		tafazzin							107.0	82.0	91.0					X																	153641818		2203	4300	6503	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153641818G>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153641818G>T	Exception_encountered					TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site		NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			4	573	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							D3DWW7|Q5HY41	Splice_Site	SNP	ENST00000393638.1	37		CCDS14747.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.644167	0.67244	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2938	0.82761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAZ	153295012	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	8.814000	0.91968	2.452000	0.82932	0.591000	0.81541	.		0.622	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			31	68	1	0	3.03874e-20	1	3.40339e-20	31	68				
QRICH1	54870	broad.mit.edu	37	3	49083858	49083858	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:49083858C>T	ENST00000395443.2	-	5	2143	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	QRICH1_ENST00000357496.2_Splice_Site_p.K557K|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Splice_Site_p.K557K	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	557						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTTCCTACCTTTTGAATAC	0.373																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.e5+1		glutamine-rich 1							130.0	125.0	127.0					3																	49083858		2203	4300	6503	SO:0001630	splice_region_variant	54870							g.chr3:49083858C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1671+1G>A	3.37:g.49083858C>T						QRICH1_ENST00000357496.2_Splice_Site_p.K557_splice|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Splice_Site_p.K557_splice	p.K557_splice	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	2143	-			557					Q4G0F7|Q7L621|Q8TEA5	Splice_Site	SNP	ENST00000395443.2	37	c.1671_splice	CCDS2787.1																																																																																				0.373	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	Silent	8	98	0	0	0	1	0	8	98				
CCDC121	79635	broad.mit.edu	37	2	27850426	27850426	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:27850426C>G	ENST00000324364.3	-	2	421	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|GPN1_ENST00000424214.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	81										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAAATTTGTTCTGCATATCTG	0.398																																						ENST00000324364.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(241-243)Gaa>Caa		coiled-coil domain containing 121							216.0	212.0	213.0					2																	27850426		2202	4300	6502	SO:0001583	missense	79635							g.chr2:27850426C>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.241G>C	2.37:g.27850426C>G	ENSP00000339087:p.Glu81Gln					CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron	p.E81Q	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	421	-	Acute lymphoblastic leukemia(172;0.155)		81					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.241G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174404	0.21704	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.28666	1.6;1.6	5.37	-7.62	0.01294	.	2.118210	0.02196	N	0.061819	T	0.12475	0.0303	N	0.11427	0.14	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.15350	-1.0440	10	0.14656	T	0.56	-15.7328	4.4642	0.11680	0.1302:0.4949:0.1207:0.2542	.	81	Q6ZUS5	CC121_HUMAN	Q	81;243	ENSP00000339087:E81Q;ENSP00000412150:E243Q	ENSP00000339087:E81Q	E	-	1	0	CCDC121	27703930	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.475000	0.06599	-0.831000	0.04256	-1.075000	0.02238	GAA		0.398	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		76	171	0	0	0	1	0	76	171				
CTBP1	1487	broad.mit.edu	37	4	1244812	1244812	+	5'Flank	SNP	G	G	A	rs145471382		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:1244812G>A	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1_ENST00000382952.3_5'Flank	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AACTGAGAACGGAGAGGGATG	0.572																																						ENST00000581398.1																			0																				69.0	60.0	63.0					4																	1244812		2203	4300	6503	SO:0001631	upstream_gene_variant	0							g.chr4:1244812G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244812G>A	Exception_encountered					CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA		NR_033339.1						0	766	+								Q4W5N3|Q7Z2Q5	RNA	SNP	ENST00000290921.6	37		CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	1.351	-0.591481	0.03799	.	.	ENSG00000196810	ENST00000357591	.	.	.	0.689	-0.212	0.13169	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.25314	N	0.989174	B	0.17268	0.021	B	0.08055	0.003	T	0.29912	-0.9996	5	0.87932	D	0	.	.	.	.	.	151	Q0VAR9	CD042_HUMAN	R	151	.	ENSP00000350204:G151R	G	+	1	0	C4orf42	1234812	0.000000	0.05858	0.012000	0.15200	0.013000	0.08279	-1.736000	0.01845	-0.132000	0.11557	-0.643000	0.03959	GGA		0.572	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		3	26	0	0	0	1	0	3	26				
FLG	2312	broad.mit.edu	37	1	152282999	152282999	+	Missense_Mutation	SNP	G	G	A	rs202237346		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:152282999G>A	ENST00000368799.1	-	3	4398	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1455	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCGTGTGTGGACTCA	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4363-4365)Cac>Tac		filaggrin		A	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	221.0	212.0	215.0		4363	1.7	0.1	1		215	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1455/4062	152282999	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282999G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4363C>T	1.37:g.152282999G>A	ENSP00000357789:p.His1455Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1455Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1455			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4363C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.754	-0.259299	0.05791	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.03982	3.74	2.62	1.71	0.24356	.	.	.	.	.	T	0.08447	0.0210	M	0.82923	2.615	0.09310	N	1	D	0.69078	0.997	D	0.65987	0.94	T	0.11966	-1.0566	9	0.52906	T	0.07	.	5.7059	0.17909	0.1529:0.0:0.8471:0.0	.	1455	P20930	FILA_HUMAN	Y	1455	ENSP00000357789:H1455Y	ENSP00000357789:H1455Y	H	-	1	0	FLG	150549623	0.003000	0.15002	0.053000	0.19242	0.005000	0.04900	0.703000	0.25646	0.707000	0.31934	-0.221000	0.12465	CAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	228	0	0	0	1	0	7	228				
PCDHB7	56129	broad.mit.edu	37	5	140552628	140552628	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:140552628A>G	ENST00000231137.3	+	1	386	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACCAGAACATGCAAATT	0.493																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(211-213)aAc>aGc									87.0	90.0	89.0					5																	140552628		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552628A>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.212A>G	5.37:g.140552628A>G	ENSP00000231137:p.Asn71Ser						p.N71S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	386	+			71			Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.212A>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.387516	0.01194	.	.	ENSG00000113212	ENST00000231137	T	0.28069	1.63	4.61	3.44	0.39384	Cadherin, N-terminal (1);	.	.	.	.	T	0.26268	0.0641	L	0.38953	1.18	0.09310	N	1	B	0.22909	0.077	B	0.33750	0.169	T	0.32534	-0.9903	9	0.52906	T	0.07	.	5.3016	0.15781	0.6813:0.1513:0.1674:0.0	.	71	Q9Y5E2	PCDB7_HUMAN	S	71	ENSP00000231137:N71S	ENSP00000231137:N71S	N	+	2	0	PCDHB7	140532812	0.000000	0.05858	0.148000	0.22405	0.105000	0.19272	-0.405000	0.07196	0.702000	0.31825	-0.290000	0.09829	AAC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	80	0	0	0	1	0	4	80				
ZNF318	24149	broad.mit.edu	37	6	43305390	43305390	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:43305390C>T	ENST00000361428.2	-	10	6423	c.6346G>A	c.(6346-6348)Ggc>Agc	p.G2116S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2116					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCCCAAGCCACGGTCAACA	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6346-6348)Ggc>Agc		zinc finger protein 318							47.0	47.0	47.0					6																	43305390		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305390C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6346G>A	6.37:g.43305390C>T	ENSP00000354964:p.Gly2116Ser					ZNF318_ENST00000318149.3_Intron	p.G2116S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6423	-			2116					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6346G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	4.180	0.031965	0.08101	.	.	ENSG00000171467	ENST00000361428	T	0.11495	2.77	5.11	3.33	0.38152	.	0.377447	0.23199	N	0.050807	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	0.999999	P	0.42296	0.775	B	0.36464	0.225	T	0.43877	-0.9364	10	0.21540	T	0.41	-0.8564	6.9955	0.24780	0.0:0.6674:0.0:0.3326	.	2116	Q5VUA4	ZN318_HUMAN	S	2116	ENSP00000354964:G2116S	ENSP00000354964:G2116S	G	-	1	0	ZNF318	43413368	0.006000	0.16342	0.054000	0.19295	0.020000	0.10135	1.677000	0.37576	0.827000	0.34685	-0.136000	0.14681	GGC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		5	57	0	0	0	1	0	5	57				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	46	0	0	0	1	0	3	46				
ENTPD6	955	broad.mit.edu	37	20	25187970	25187970	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:25187970A>T	ENST00000376652.4	+	3	476	c.313A>T	c.(313-315)Atg>Ttg	p.M105L	ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L|ENTPD6_ENST00000360031.2_Missense_Mutation_p.M104L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	105					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTACGGGATCATGTTTGATGC	0.662																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(310-312)Atg>Ttg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							60.0	59.0	59.0					20																	25187970		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25187970A>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.313A>T	20.37:g.25187970A>T	ENSP00000365840:p.Met105Leu					ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.M105L	p.M104L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			3	492	+			105					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.310A>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585013	0.86748	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	M	0.84156	2.68	0.54753	D	0.999989	D;D;P;D;D;D;D;D	0.89917	1.0;0.97;0.943;0.999;0.985;0.988;0.998;0.999	D;P;P;D;D;D;D;D	0.91635	0.999;0.896;0.874;0.996;0.918;0.951;0.995;0.996	T	0.12426	-1.0548	10	0.72032	D	0.01	-2.1109	11.1423	0.48411	1.0:0.0:0.0:0.0	.	87;105;105;105;88;104;104;105	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	L	88;104;1;105;87;87;105;104;88;105	ENSP00000347084:M88L;ENSP00000353131:M104L;ENSP00000365840:M105L;ENSP00000408098:M87L;ENSP00000395064:M87L;ENSP00000401895:M105L;ENSP00000398844:M104L;ENSP00000390511:M88L;ENSP00000390646:M105L	ENSP00000347084:M88L	M	+	1	0	ENTPD6	25135970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.986000	0.76200	2.131000	0.65755	0.379000	0.24179	ATG		0.662	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			6	60	0	0	0	1	0	6	60				
HSPG2	3339	broad.mit.edu	37	1	22150181	22150181	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:22150181C>T	ENST00000374695.3	-	96	13010	c.12931G>A	c.(12931-12933)Ggt>Agt	p.G4311S	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR|LDLRAD2_ENST00000543870.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4311	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGCTCCTCACCGTCGACTTGG	0.647																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(12931-12933)Ggt>Agt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						84.0	82.0	83.0					1																	22150181		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22150181C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12931G>A	1.37:g.22150181C>T	ENSP00000363827:p.Gly4311Ser					LDLRAD2_ENST00000344642.2_3'UTR|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000543870.1_Intron	p.G4311S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	96	13010	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4311			Laminin G-like 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12931G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291977	0.80914	.	.	ENSG00000142798	ENST00000374695	T	0.73047	-0.71	5.03	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.36703	U	0.002447	T	0.76212	0.3956	L	0.52573	1.65	0.41623	D	0.988971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.73279	-0.4033	10	0.48119	T	0.1	.	7.1126	0.25399	0.0:0.7339:0.1724:0.0937	.	2251;4311	Q59EG0;P98160	.;PGBM_HUMAN	S	4311	ENSP00000363827:G4311S	ENSP00000363827:G4311S	G	-	1	0	HSPG2	22022768	0.985000	0.35326	0.203000	0.23512	0.738000	0.42128	2.743000	0.47442	0.507000	0.28148	0.655000	0.94253	GGT		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	36	0	0	0	1	0	4	36				
ZCCHC11	23318	broad.mit.edu	37	1	52940852	52940852	+	Silent	SNP	G	G	A	rs140552770	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:52940852G>A	ENST00000371544.3	-	13	2641	c.2379C>T	c.(2377-2379)caC>caT	p.H793H	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.H793H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	793					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTGTCCGTGGTCAGCAA	0.368																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2377-2379)caC>caT		zinc finger, CCHC domain containing 11		G	,	2,4404	4.2+/-10.8	0,2,2201	162.0	158.0	159.0		2379,2379	0.3	0.9	1	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZCCHC11	NM_001009881.2,NM_015269.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	793/1646,793/1645	52940852	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940852G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2379C>T	1.37:g.52940852G>A						ZCCHC11_ENST00000257177.4_Silent_p.H793H|ZCCHC11_ENST00000371541.1_5'UTR	p.H793H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2641	-			793					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2379C>T	CCDS30716.1																																																																																				0.368	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		12	94	0	0	0	1	0	12	94				
SLC17A2	10246	broad.mit.edu	37	6	25913553	25913553	+	3'UTR	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:25913553G>A	ENST00000265425.3	-	0	1484				SLC17A2_ENST00000360488.3_Silent_p.P427P|SLC17A2_ENST00000377850.3_Missense_Mutation_p.R477C			O00624	NPT3_HUMAN	solute carrier family 17, member 2						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.P427P(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGAGGCGGGTAAGGGTC	0.428																																						ENST00000377850.3																			2	Substitution - coding silent(2)	p.P427P(2)	large_intestine(1)|lung(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1429-1431)Cgc>Tgc		solute carrier family 17, member 2							141.0	132.0	135.0					6																	25913553		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25913553G>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.*144C>T	6.37:g.25913553G>A						SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.P427P	p.R477C			O00624	NPT3_HUMAN			12	1953	-			0					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	G	14.06	2.423718	0.43020	.	.	ENSG00000112337	ENST00000377850	T	0.65178	-0.14	4.65	4.65	0.58169	.	0.097554	0.46442	D	0.000281	T	0.63129	0.2485	.	.	.	0.19300	N	0.999971	D	0.76494	0.999	P	0.57244	0.816	T	0.57429	-0.7813	9	0.87932	D	0	.	13.4126	0.60952	0.0:0.0:1.0:0.0	.	477	A6NK81	.	C	477	ENSP00000367081:R477C	ENSP00000367081:R477C	R	-	1	0	SLC17A2	26021532	0.950000	0.32346	0.686000	0.30086	0.001000	0.01503	2.888000	0.48594	2.890000	0.99128	0.650000	0.86243	CGC		0.428	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			9	116	0	0	0	1	0	9	116				
LPAR3	23566	broad.mit.edu	37	1	85331538	85331538	+	Missense_Mutation	SNP	T	T	C	rs528048334		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:85331538T>C	ENST00000440886.1	-	1	304	c.266A>G	c.(265-267)aAc>aGc	p.N89S	LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	89					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGGGCCTGTGTTAAACATCAG	0.448													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0					ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(265-267)aAc>aGc		lysophosphatidic acid receptor 3							127.0	131.0	129.0					1																	85331538		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331538T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.266A>G	1.37:g.85331538T>C	ENSP00000395389:p.Asn89Ser					LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S|LPAR3_ENST00000491034.1_5'UTR	p.N89S			Q9UBY5	LPAR3_HUMAN			1	304	-			89					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.266A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456729	0.63401	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.70869	-0.52;-0.52	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.221685	0.53938	D	0.000057	T	0.45915	0.1366	L	0.39566	1.225	0.47407	D	0.99941	P	0.35493	0.505	B	0.29942	0.109	T	0.50056	-0.8872	10	0.20519	T	0.43	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	89	Q9UBY5	LPAR3_HUMAN	S	89	ENSP00000395389:N89S;ENSP00000359643:N89S	ENSP00000359643:N89S	N	-	2	0	LPAR3	85104126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.013000	0.88655	2.188000	0.69820	0.533000	0.62120	AAC		0.448	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		51	55	0	0	0	1	0	51	55				
ZNF460	10794	broad.mit.edu	37	19	57803125	57803125	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:57803125G>T	ENST00000360338.3	+	3	1538	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCGAAAAGACCTCATTCG	0.473																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1216-1218)Gac>Tac		zinc finger protein 460							76.0	80.0	79.0					19																	57803125		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803125G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1216G>T	19.37:g.57803125G>T	ENSP00000353491:p.Asp406Tyr					ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	p.D406Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1538	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	406					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1216G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	3.401	-0.122234	0.06795	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.07444	3.19;3.19	1.68	-0.753	0.11068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	L	0.33753	1.03	0.09310	N	1	D	0.64830	0.994	D	0.63192	0.912	T	0.25847	-1.0120	9	0.30854	T	0.27	.	3.7366	0.08512	0.2927:0.2118:0.4954:0.0	.	406	Q14592	ZN460_HUMAN	Y	365;406	ENSP00000446167:D365Y;ENSP00000353491:D406Y	ENSP00000353491:D406Y	D	+	1	0	ZNF460	62494937	0.000000	0.05858	0.001000	0.08648	0.491000	0.33493	-2.535000	0.00940	-0.128000	0.11641	0.650000	0.86243	GAC		0.473	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		18	32	1	0	7.41877e-09	1	7.88832e-09	18	32				
ATP10D	57205	broad.mit.edu	37	4	47560219	47560219	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:47560219C>T	ENST00000273859.3	+	12	2632	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	788					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTCTTTCCAATCAAGTT	0.433																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2362-2364)tCc>tTc		ATPase, class V, type 10D							135.0	125.0	129.0					4																	47560219		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47560219C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2363C>T	4.37:g.47560219C>T	ENSP00000273859:p.Ser788Phe					AC092597.3_ENST00000508081.1_RNA	p.S788F	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2632	+			788					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2363C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065717	0.55539	.	.	ENSG00000145246	ENST00000273859	D	0.83506	-1.73	4.95	4.12	0.48240	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.121266	0.56097	D	0.000028	D	0.90297	0.6965	M	0.88842	2.985	0.80722	D	1	P	0.48407	0.91	P	0.57425	0.82	D	0.91583	0.5280	10	0.72032	D	0.01	-9.2127	12.4592	0.55723	0.0:0.9194:0.0:0.0805	.	788	Q9P241	AT10D_HUMAN	F	788	ENSP00000273859:S788F	ENSP00000273859:S788F	S	+	2	0	ATP10D	47254976	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	5.922000	0.70036	1.324000	0.45282	0.561000	0.74099	TCC		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		8	90	0	0	0	1	0	8	90				
CMC2	56942	broad.mit.edu	37	16	81015424	81015424	+	Missense_Mutation	SNP	C	C	A	rs555611878		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:81015424C>A	ENST00000219400.3	-	3	555	c.140G>T	c.(139-141)tGc>tTc	p.C47F	CMC2_ENST00000565914.1_Missense_Mutation_p.C47F|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000565925.1_Missense_Mutation_p.C47F|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Missense_Mutation_p.C47F|CMC2_ENST00000570195.1_Missense_Mutation_p.C66F|CMC2_ENST00000562713.1_Missense_Mutation_p.C47F	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2	47						mitochondrion (GO:0005739)											ATTCTTCAGGCATTTTCTCAA	0.303																																						ENST00000219400.3																			0											c.(139-141)tGc>tTc		C-x(9)-C motif containing 2							93.0	86.0	88.0					16																	81015424		2203	4299	6502	SO:0001583	missense	56942							g.chr16:81015424C>A	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 61"", ""COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"""	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.140G>T	16.37:g.81015424C>A	ENSP00000219400:p.Cys47Phe					CMC2_ENST00000565914.1_Missense_Mutation_p.C47F|CMC2_ENST00000565925.1_Missense_Mutation_p.C47F|CMC2_ENST00000570195.1_Missense_Mutation_p.C66F|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000562713.1_Missense_Mutation_p.C47F|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Missense_Mutation_p.C47F	p.C47F	NM_020188.3	NP_064573.1	Q9NRP2	CP061_HUMAN			3	555	-			47					D3DUK6	Missense_Mutation	SNP	ENST00000219400.3	37	c.140G>T	CCDS10930.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836227	0.50951	.	.	ENSG00000103121	ENST00000219400	D	0.96651	-4.08	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	.	.	.	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	9	0.87932	D	0	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	47	Q9NRP2	CP061_HUMAN	F	47	ENSP00000219400:C47F	ENSP00000219400:C47F	C	-	2	0	C16orf61	79572925	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	4.460000	0.60108	2.941000	0.99782	0.655000	0.94253	TGC		0.303	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269047.1	NM_020188		11	48	1	0	0.00185496	1	0.00194771	11	48				
BNIP1	662	broad.mit.edu	37	5	172590905	172590905	+	Missense_Mutation	SNP	G	G	A	rs571663655		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:172590905G>A	ENST00000351486.5	+	6	699	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	BNIP1_ENST00000231668.9_Missense_Mutation_p.R266Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	223					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGAAAAAGCGGCTCTTTCCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19250	0.0		0.0	False		,,,				2504	0.001					ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(796-798)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1							108.0	106.0	107.0					5																	172590905		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590905G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.668G>A	5.37:g.172590905G>A	ENSP00000239215:p.Arg223Gln					BNIP1_ENST00000351486.5_Missense_Mutation_p.R223Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q	p.R266Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	901	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	223					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.797G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546478	0.96488	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;D;D	0.89552	-1.07;-1.39;-2.46;-2.53	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95313	0.8479	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.95477	0.8557	10	0.87932	D	0	.	19.7177	0.96129	0.0:0.0:1.0:0.0	.	189;232;223;266	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	266;223;232;189	ENSP00000231668:R266Q;ENSP00000239215:R223Q;ENSP00000239214:R232Q;ENSP00000377365:R189Q	ENSP00000231668:R266Q	R	+	2	0	BNIP1	172523511	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.476000	0.97823	2.666000	0.90696	0.555000	0.69702	CGG		0.493	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		35	85	0	0	0	1	0	35	85				
ZFYVE19	84936	broad.mit.edu	37	15	41100553	41100553	+	Intron	SNP	C	C	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:41100553C>A	ENST00000355341.4	+	1	780				ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.P76T|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000563530.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACAGACCTGCCAGATTCCTC	0.542																																						ENST00000336455.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(226-228)Cca>Aca		zinc finger, FYVE domain containing 19							102.0	95.0	97.0					15																	41100553		876	1991	2867	SO:0001627	intron_variant	84936						zinc ion binding	g.chr15:41100553C>A	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.279+487C>A	15.37:g.41100553C>A						ZFYVE19_ENST00000355341.4_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000563530.1_Intron|ZFYVE19_ENST00000570108.1_Intron	p.P76T	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	2	281	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	244					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	c.226C>A	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380709	0.11466	.	.	ENSG00000166140	ENST00000336455	T	0.22945	1.93	4.0	1.08	0.20341	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.72032	D	0.01	.	4.0484	0.09783	0.0:0.588:0.1968:0.2151	.	.	.	.	T	76	ENSP00000337824:P76T	ENSP00000337824:P76T	P	+	1	0	ZFYVE19	38887845	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.294000	0.08309	0.253000	0.21552	0.563000	0.77884	CCA		0.542	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		4	102	1	0	4.096e-09	1	4.41108e-09	4	102				
CCNB1	891	broad.mit.edu	37	5	68470917	68470917	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:68470917C>T	ENST00000256442.5	+	6	1172	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCACTTCCTTCGGAGAGCATC	0.448																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(919-921)Cgg>Tgg		cyclin B1							108.0	112.0	111.0					5																	68470917		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470917C>T	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.919C>T	5.37:g.68470917C>T	ENSP00000256442:p.Arg307Trp						p.R307W	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1172	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	307					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.919C>T	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934961	0.73442	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	6.17	4.41	0.53225	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	H	0.94808	3.585	0.80722	D	1	P;P;D	0.56287	0.475;0.764;0.975	B;B;P	0.53313	0.234;0.4;0.723	T	0.57522	-0.7797	10	0.72032	D	0.01	.	7.4534	0.27252	0.1346:0.7251:0.0:0.1403	.	307;307;307	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	W	307;307;307;123	ENSP00000256442:R307W;ENSP00000423387:R307W;ENSP00000424588:R307W;ENSP00000426230:R123W	ENSP00000256442:R307W	R	+	1	2	CCNB1	68506673	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	2.537000	0.45702	0.944000	0.37579	-0.150000	0.13652	CGG		0.448	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		41	79	0	0	0	1	0	41	79				
HDHD1	8226	broad.mit.edu	37	X	6995447	6995447	+	Silent	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:6995447G>A	ENST00000381077.5	-	3	400	c.324C>T	c.(322-324)ccC>ccT	p.P108P	HDHD1_ENST00000540122.1_Silent_p.P108P|HDHD1_ENST00000424830.2_Silent_p.P131P|HDHD1_ENST00000412827.2_Silent_p.P65P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	108					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CCAGTGCAAAGGGGATGCCAT	0.582																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(322-324)ccC>ccT		haloacid dehalogenase-like hydrolase domain containing 1							52.0	52.0	52.0					X																	6995447		2081	4189	6270	SO:0001819	synonymous_variant	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995447G>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.324C>T	X.37:g.6995447G>A						HDHD1_ENST00000540122.1_Silent_p.P108P|HDHD1_ENST00000412827.2_Silent_p.P65P|HDHD1_ENST00000424830.2_Silent_p.P131P	p.P108P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			3	400	-			108					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	c.324C>T	CCDS48075.1																																																																																				0.582	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		6	56	0	0	0	1	0	6	56				
TAF1	6872	broad.mit.edu	37	X	70612782	70612782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:70612782C>T	ENST00000373790.4	+	20	3037	c.2986C>T	c.(2986-2988)Cgt>Tgt	p.R996C	TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C|TAF1_ENST00000449580.1_Missense_Mutation_p.R996C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	996					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R996C(1)|p.R1017C(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGCAGACCTTCGTCGCCTTTC	0.433																																						ENST00000449580.1																			2	Substitution - Missense(2)	p.R996C(1)|p.R1017C(1)	kidney(2)	breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2986-2988)Cgt>Tgt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							161.0	147.0	152.0					X																	70612782		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70612782C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2986C>T	X.37:g.70612782C>T	ENSP00000362895:p.Arg996Cys					TAF1_ENST00000373790.4_Missense_Mutation_p.R996C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C	p.R996C			P21675	TAF1_HUMAN			20	3037	+	Renal(35;0.156)	all_lung(315;0.000321)	996					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2986C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	19.78	3.890321	0.72524	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.44	4.58	0.56647	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.043914	0.85682	N	0.000000	T	0.49745	0.1575	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.60806	-0.7190	10	0.87932	D	0	.	13.3377	0.60526	0.0:0.922:0.0:0.078	.	996;996;1017	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	C	996;996;1017;1017	ENSP00000362895:R996C;ENSP00000389000:R996C;ENSP00000406549:R1017C;ENSP00000276072:R1017C	ENSP00000276072:R1017C	R	+	1	0	TAF1	70529507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	1.083000	0.41159	0.529000	0.55759	CGT		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		4	177	0	0	0	1	0	4	177				
UBXN6	80700	broad.mit.edu	37	19	4446151	4446151	+	Silent	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:4446151G>A	ENST00000301281.6	-	10	1219	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Silent_p.F312F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	365	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTCCCGGACGAACCCGTACA	0.692																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1093-1095)ttC>ttT		UBX domain protein 6							21.0	23.0	22.0					19																	4446151		2200	4298	6498	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446151G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1095C>T	19.37:g.4446151G>A						UBXN6_ENST00000394765.3_Silent_p.F312F	p.F365F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			10	1219	-			365			UBX.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.1095C>T	CCDS12129.1																																																																																				0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	15	0	0	0	1	0	8	15				
UQCRC2	7385	broad.mit.edu	37	16	21982886	21982886	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:21982886T>G	ENST00000268379.4	+	9	1475	c.711T>G	c.(709-711)ttT>ttG	p.F237L	UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	237					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTGAACAGTTTCTCAACATGA	0.403																																					Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(709-711)ttT>ttG		ubiquinol-cytochrome c reductase core protein II							132.0	120.0	124.0					16																	21982886		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21982886T>G	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.711T>G	16.37:g.21982886T>G	ENSP00000268379:p.Phe237Leu					UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	9	1475	+			237					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.711T>G	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301469	0.40694	.	.	ENSG00000140740	ENST00000268379	T	0.06933	3.24	4.86	1.31	0.21738	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	L	0.31120	0.905	0.58432	D	0.999998	B	0.16166	0.016	B	0.18871	0.023	T	0.38134	-0.9675	10	0.09590	T	0.72	-20.2618	7.2952	0.26389	0.0:0.5142:0.0:0.4858	.	237	P22695	QCR2_HUMAN	L	237	ENSP00000268379:F237L	ENSP00000268379:F237L	F	+	3	2	UQCRC2	21890387	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.289000	0.33307	0.304000	0.22809	0.454000	0.30748	TTT		0.403	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		35	48	0	0	0	1	0	35	48				
ADCY2	108	broad.mit.edu	37	5	7520964	7520964	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:7520964C>T	ENST00000338316.4	+	3	611	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	174					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTGCTTAGCGTCTGCCTGT	0.582																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(520-522)agC>agT		adenylate cyclase 2 (brain)							186.0	122.0	143.0					5																	7520964		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520964C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.522C>T	5.37:g.7520964C>T							p.S174S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	611	+			174					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.522C>T	CCDS3872.2																																																																																				0.582	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	46	0	0	0	1	0	25	46				
ADAMTS19	171019	broad.mit.edu	37	5	128994350	128994350	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:128994350A>G	ENST00000274487.4	+	15	2472	c.2327A>G	c.(2326-2328)gAa>gGa	p.E776G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	776	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGCAAGAGAAGATCATTGT	0.353																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2326-2328)gAa>gGa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							175.0	173.0	173.0					5																	128994350		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994350A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2327A>G	5.37:g.128994350A>G	ENSP00000274487:p.Glu776Gly					CTC-575N7.1_ENST00000503616.1_RNA	p.E776G	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2472	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	776			Cys-rich.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2327A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126556	0.77549	.	.	ENSG00000145808	ENST00000274487	T	0.71341	-0.56	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000003	D	0.86682	0.5991	M	0.93062	3.375	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.89992	0.4108	9	.	.	.	.	13.5855	0.61928	1.0:0.0:0.0:0.0	.	776	Q8TE59	ATS19_HUMAN	G	776	ENSP00000274487:E776G	.	E	+	2	0	ADAMTS19	129022249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	1.950000	0.56595	0.477000	0.44152	GAA		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	151	0	0	0	1	0	8	151				
RFX4	5992	broad.mit.edu	37	12	107083127	107083127	+	Silent	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:107083127A>G	ENST00000392842.1	+	7	1068	c.654A>G	c.(652-654)agA>agG	p.R218R	RFX4_ENST00000229387.5_Silent_p.R124R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.R227R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	218					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTAATAAGAGCCAACTTTG	0.413																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(652-654)agA>agG		regulatory factor X, 4 (influences HLA class II expression)							157.0	144.0	149.0					12																	107083127		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107083127A>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.654A>G	12.37:g.107083127A>G						RFX4_ENST00000357881.4_Silent_p.R227R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.R124R	p.R218R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			7	1068	+			218					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.654A>G	CCDS9106.1																																																																																				0.413	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		36	70	0	0	0	1	0	36	70				
SPAG17	200162	broad.mit.edu	37	1	118657953	118657953	+	Nonsense_Mutation	SNP	G	G	A	rs370557283		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:118657953G>A	ENST00000336338.5	-	4	492	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.		R -> Q (in dbSNP:rs12133381).			cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTTCCCGTCGCTGTTGGTCC	0.418																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(427-429)Cga>Tga		sperm associated antigen 17		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	126.0	129.0	128.0		427	2.9	1.0	1		128	0,8600		0,0,4300	no	stop-gained	SPAG17	NM_206996.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		143/2224	118657953	1,13003	2202	4300	6502	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118657953G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.427C>T	1.37:g.118657953G>A	ENSP00000337804:p.Arg143*						p.R143*	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	4	492	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	143		R -> Q (in dbSNP:rs12133381).	Lys-rich.		Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.427C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245173	0.59103	2.27E-4	0.0	ENSG00000155761	ENST00000336338	.	.	.	5.92	2.94	0.34122	.	0.164379	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0845	0.30765	0.0763:0.0:0.3584:0.5653	.	.	.	.	X	143	.	ENSP00000337804:R143X	R	-	1	2	SPAG17	118459476	1.000000	0.71417	0.970000	0.41538	0.091000	0.18340	1.596000	0.36718	0.774000	0.33427	0.655000	0.94253	CGA		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		6	67	0	0	0	1	0	6	67				
ACADVL	37	broad.mit.edu	37	17	7126528	7126528	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:7126528G>A	ENST00000356839.5	+	11	1333	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q|ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	385	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAGCTGGCACGGATGGTTATG	0.562																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(1153-1155)cGg>cAg		acyl-CoA dehydrogenase, very long chain							139.0	138.0	138.0					17																	7126528		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7126528G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1154G>A	17.37:g.7126528G>A	ENSP00000349297:p.Arg385Gln					ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q|ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q	p.R385Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			11	1333	+			385			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.1154G>A	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673532	0.47781	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.95918	-3.85;-3.85	5.62	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.122265	0.53938	D	0.000055	D	0.93080	0.7797	N	0.21324	0.655	0.50632	D	0.999889	B;B;D	0.76494	0.324;0.324;0.999	B;B;P	0.57101	0.013;0.022;0.813	D	0.89466	0.3740	10	0.13853	T	0.58	.	11.5518	0.50725	0.086:0.0:0.914:0.0	.	408;363;385	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	Q	408;431;363;385;431	ENSP00000438689:R408Q;ENSP00000344152:R363Q	ENSP00000325395:R385Q	R	+	2	0	ACADVL	7067252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.466000	0.45084	2.655000	0.90218	0.655000	0.94253	CGG		0.562	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		5	132	0	0	0	1	0	5	132				
WDR91	29062	broad.mit.edu	37	7	134891927	134891927	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:134891927G>A	ENST00000354475.4	-	4	570	c.539C>T	c.(538-540)gCg>gTg	p.A180V	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.A180V|WDR91_ENST00000423565.1_Missense_Mutation_p.A145V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	180								p.A180V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGACACTCCGCATCAAAGTT	0.458																																						ENST00000354475.4																			1	Substitution - Missense(1)	p.A180V(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(538-540)gCg>gTg		WD repeat domain 91							96.0	87.0	90.0					7																	134891927		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134891927G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.539C>T	7.37:g.134891927G>A	ENSP00000346466:p.Ala180Val					WDR91_ENST00000423565.1_Missense_Mutation_p.A145V|WDR91_ENST00000344400.5_Missense_Mutation_p.A180V	p.A180V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			4	570	-			180					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.539C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706558	0.68615	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91792	-2.91;-2.91;-2.91	5.87	5.87	0.94306	.	0.262839	0.44688	D	0.000433	D	0.91209	0.7230	L	0.56769	1.78	0.46499	D	0.999074	B	0.14805	0.011	B	0.08055	0.003	D	0.86335	0.1701	10	0.51188	T	0.08	-13.8918	20.2788	0.98501	0.0:0.0:1.0:0.0	.	180	A4D1P6	WDR91_HUMAN	V	180;180;145	ENSP00000340877:A180V;ENSP00000346466:A180V;ENSP00000392555:A145V	ENSP00000340877:A180V	A	-	2	0	WDR91	134542467	1.000000	0.71417	0.967000	0.41034	0.969000	0.65631	6.033000	0.70925	2.788000	0.95919	0.650000	0.86243	GCG		0.458	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		4	86	0	0	0	1	0	4	86				
AKR7A2	8574	broad.mit.edu	37	1	19630776	19630776	+	Silent	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:19630776A>G	ENST00000235835.3	-	7	1044	c.1023T>C	c.(1021-1023)gaT>gaC	p.D341D	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	341					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATTAAAGGCATCCACGACAG	0.597																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1021-1023)gaT>gaC		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							78.0	77.0	77.0					1																	19630776		2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19630776A>G	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.1023T>C	1.37:g.19630776A>G							p.D341D	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1044	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	341					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.1023T>C	CCDS194.1																																																																																				0.597	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		4	53	0	0	0	1	0	4	53				
ZEB1	6935	broad.mit.edu	37	10	31809579	31809579	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr10:31809579A>G	ENST00000320985.10	+	7	1426	c.1316A>G	c.(1315-1317)aAa>aGa	p.K439R	ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.K423R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	439					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTTGCATCCAAAGAACAAGAA	0.373																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1267-1269)aAa>aGa		zinc finger E-box binding homeobox 1							80.0	76.0	78.0					10																	31809579		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809579A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1316A>G	10.37:g.31809579A>G	ENSP00000319248:p.Lys439Arg					ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K439R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R|ZEB1_ENST00000559858.1_3'UTR	p.K423R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1659	+		Prostate(175;0.0156)	439					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1268A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578514	0.46006	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	D	0.84566	0.5500	M	0.62723	1.935	0.50632	D	0.99988	P;D;D;D;D;P;D;D	0.69078	0.745;0.981;0.979;0.965;0.991;0.885;0.997;0.965	P;P;P;P;P;B;D;P	0.63283	0.545;0.676;0.549;0.629;0.76;0.443;0.913;0.629	T	0.81765	-0.0783	10	0.23302	T	0.38	-31.274	16.5764	0.84681	1.0:0.0:0.0:0.0	.	372;439;423;439;439;419;440;439	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	R	221;439;440;439;372;439;419;298;330;423	ENSP00000444282:K221R;ENSP00000354487:K440R;ENSP00000444891:K372R;ENSP00000319248:K439R;ENSP00000391612:K423R	ENSP00000319248:K439R	K	+	2	0	ZEB1	31849585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.466000	0.90387	2.371000	0.80710	0.533000	0.62120	AAA		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		3	70	0	0	0	1	0	3	70				
TLR7	51284	broad.mit.edu	37	X	12905355	12905355	+	Silent	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:12905355T>C	ENST00000380659.3	+	3	1867	c.1728T>C	c.(1726-1728)aaT>aaC	p.N576N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	576					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAAGCAGTAATAGCCATTATT	0.373																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1726-1728)aaT>aaC		toll-like receptor 7	Imiquimod(DB00724)						125.0	134.0	131.0					X																	12905355		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905355T>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1728T>C	X.37:g.12905355T>C							p.N576N	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1867	+			576					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.1728T>C	CCDS14151.1																																																																																				0.373	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		4	275	0	0	0	1	0	4	275				
DCAF8L1	139425	broad.mit.edu	37	X	27998610	27998610	+	Missense_Mutation	SNP	C	C	T	rs146103278		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:27998610C>T	ENST00000441525.1	-	1	956	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	281										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTGGCCACACGCTTAGTATT	0.498																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(841-843)cGt>cAt		DDB1 and CUL4 associated factor 8-like 1		C	HIS/ARG	1,3832		0,1,1630,571	90.0	77.0	82.0		842	0.8	0.1	X	dbSNP_134	82	0,6728		0,0,2428,1872	no	missense	DCAF8L1	NM_001017930.1	29	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	281/601	27998610	1,10560	2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998610C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.842G>A	X.37:g.27998610C>T	ENSP00000405222:p.Arg281His						p.R281H	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	956	-			281					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.842G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467085	0.26335	2.61E-4	0.0	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	L	0.52364	1.645	0.50313	D	0.99986	B	0.21905	0.062	B	0.15870	0.014	T	0.64761	-0.6331	10	0.46703	T	0.11	-4.3178	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	281	A6NGE4	DC8L1_HUMAN	H	281	ENSP00000405222:R281H	ENSP00000405222:R281H	R	-	2	0	DCAF8L1	27908531	1.000000	0.71417	0.072000	0.20136	0.042000	0.13812	2.947000	0.49058	0.691000	0.31592	0.284000	0.19432	CGT		0.498	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		9	86	0	0	0	1	0	9	86				
IQCC	55721	broad.mit.edu	37	1	32671760	32671760	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:32671760C>T	ENST00000291358.6	+	2	69	c.48C>T	c.(46-48)tgC>tgT	p.C16C	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Silent_p.C96C|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	16	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGCCTGCGTCCGGGGCT	0.602																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(286-288)tgC>tgT		IQ motif containing C							79.0	80.0	80.0					1																	32671760		2203	4300	6503	SO:0001819	synonymous_variant	55721							g.chr1:32671760C>T	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.48C>T	1.37:g.32671760C>T						RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Silent_p.C16C|RP4-622L5.7_ENST00000373604.4_RNA	p.C96C	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			2	335	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	16					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	c.288C>T	CCDS355.1																																																																																				0.602	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		4	73	0	0	0	1	0	4	73				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	15	0	0	0	1	0	3	15				
OR4D5	219875	broad.mit.edu	37	11	123811091	123811091	+	Silent	SNP	C	C	T	rs374012173		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:123811091C>T	ENST00000307033.2	+	1	842	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTGCATCTACGTCTATACAA	0.532																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(766-768)taC>taT		olfactory receptor, family 4, subfamily D, member 5		C		1,4403	2.1+/-5.4	0,1,2201	209.0	159.0	176.0		768	1.2	1.0	11		176	0,8598		0,0,4299	no	coding-synonymous	OR4D5	NM_001001965.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		256/319	123811091	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811091C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.768C>T	11.37:g.123811091C>T							p.Y256Y	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	842	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.768C>T	CCDS31699.1																																																																																				0.532	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		10	151	0	0	0	1	0	10	151				
PCNT	5116	broad.mit.edu	37	21	47809221	47809221	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr21:47809221C>T	ENST00000359568.5	+	19	3822	c.3715C>T	c.(3715-3717)Cgt>Tgt	p.R1239C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1239					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCCACATGCGTGAAAGCTT	0.572																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(3715-3717)Cgt>Tgt		pericentrin							94.0	94.0	94.0					21																	47809221		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47809221C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3715C>T	21.37:g.47809221C>T	ENSP00000352572:p.Arg1239Cys					PCNT_ENST00000480896.1_3'UTR	p.R1239C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			19	3822	+	Breast(49;0.112)		1239					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.3715C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.213984	0.09810	.	.	ENSG00000160299	ENST00000359568	T	0.01246	5.11	5.44	-0.238	0.13055	.	.	.	.	.	T	0.00695	0.0023	N	0.01576	-0.805	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.001	T	0.47328	-0.9126	9	0.33940	T	0.23	.	8.5797	0.33621	0.0:0.4404:0.0:0.5596	.	1121;1239	O95613-2;O95613	.;PCNT_HUMAN	C	1239	ENSP00000352572:R1239C	ENSP00000352572:R1239C	R	+	1	0	PCNT	46633649	0.575000	0.26692	0.048000	0.18961	0.243000	0.25628	0.333000	0.19768	0.042000	0.15717	0.467000	0.42956	CGT		0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	96	0	0	0	1	0	5	96				
SENP7	57337	broad.mit.edu	37	3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000358203.3_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(760-762)gGc>gAc		SUMO1/sentrin specific peptidase 7							107.0	102.0	104.0					3																	101090887		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090887C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.761G>A	3.37:g.101090887C>T	ENSP00000377655:p.Gly254Asp					SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D	p.G254D	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	814	-			254					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.761G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.513512	0.00153	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.32;2.32;2.28	4.35	-4.15	0.03881	.	1.171620	0.06365	N	0.712505	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45629	-0.9248	10	0.05436	T	0.98	8.4904	11.1042	0.48193	0.0:0.5083:0.0:0.4917	.	90;188;221;254	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	254;189;188;90;90;221	ENSP00000377655:G254D;ENSP00000377654:G189D;ENSP00000313624:G188D;ENSP00000377651:G90D;ENSP00000350936:G90D;ENSP00000342159:G221D	ENSP00000313624:G188D	G	-	2	0	SENP7	102573577	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.799000	0.04439	-1.451000	0.01035	GGC		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		11	77	0	0	0	1	0	11	77				
METTL13	51603	broad.mit.edu	37	1	171765758	171765758	+	Silent	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:171765758G>A	ENST00000361735.3	+	8	2228	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Silent_p.L653L|METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000362019.3_Silent_p.L568L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	654							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTGTCAGCTGCACCCTGAGC	0.557																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1960-1962)ctG>ctA		methyltransferase like 13							121.0	112.0	115.0					1																	171765758		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171765758G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1962G>A	1.37:g.171765758G>A						METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L568L|METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000458517.1_Silent_p.L653L	p.L654L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			8	2228	+			654					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1962G>A	CCDS1299.1																																																																																				0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		36	76	0	0	0	1	0	36	76				
OR4S1	256148	broad.mit.edu	37	11	48328584	48328584	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:48328584C>T	ENST00000319988.1	+	1	810	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AACTTATCATCCTCTTTAACA	0.458																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(808-810)atC>atT		olfactory receptor, family 4, subfamily S, member 1							197.0	174.0	181.0					11																	48328584		2201	4298	6499	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328584C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.810C>T	11.37:g.48328584C>T							p.I270I	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	810	+			270					Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.810C>T	CCDS31488.1																																																																																				0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		34	81	0	0	0	1	0	34	81				
DENND5B	160518	broad.mit.edu	37	12	31632836	31632836	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:31632836C>T	ENST00000389082.5	-	3	855	c.591G>A	c.(589-591)ccG>ccA	p.P197P	DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Silent_p.P219P|DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000536562.1_Silent_p.P232P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	197	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGAATGGTAACGGTGTGATCA	0.433																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(589-591)ccG>ccA		DENN/MADD domain containing 5B							137.0	132.0	133.0					12																	31632836		1938	4140	6078	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31632836C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.591G>A	12.37:g.31632836C>T						DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000536562.1_Silent_p.P232P|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Silent_p.P219P	p.P197P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			3	855	-			197			DENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.591G>A	CCDS44857.1																																																																																				0.433	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		15	34	0	0	0	1	0	15	34				
GLI3	2737	broad.mit.edu	37	7	42011989	42011989	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:42011989A>G	ENST00000395925.3	-	13	2134	c.2050T>C	c.(2050-2052)Tca>Cca	p.S684P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCCGCTTTGAGGTAGTGTTG	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2050-2052)Tca>Cca		GLI family zinc finger 3							143.0	146.0	145.0					7																	42011989		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42011989A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2050T>C	7.37:g.42011989A>G	ENSP00000379258:p.Ser684Pro					GLI3_ENST00000479210.1_5'UTR	p.S684P	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			13	2134	-			684					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2050T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787051	0.70337	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.72479	2.2	0.80722	D	1	P	0.50156	0.932	P	0.52598	0.703	T	0.02491	-1.1151	10	0.29301	T	0.29	.	16.3648	0.83312	1.0:0.0:0.0:0.0	.	684	P10071	GLI3_HUMAN	P	684	ENSP00000379258:S684P	ENSP00000379258:S684P	S	-	1	0	GLI3	41978514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.044000	0.64214	2.263000	0.75096	0.533000	0.62120	TCA		0.562	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	143	0	0	0	1	0	11	143				
PTPRF	5792	broad.mit.edu	37	1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:44035429G>A	ENST00000359947.4	+	6	888	c.548G>A	c.(547-549)cGc>cAc	p.R183H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCAACGGCCGCATCAAGCAG	0.587																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(547-549)cGc>cAc		protein tyrosine phosphatase, receptor type, F							41.0	39.0	40.0					1																	44035429		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44035429G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.548G>A	1.37:g.44035429G>A	ENSP00000353030:p.Arg183His					PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H	p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			6	888	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	183			Ig-like C2-type 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.548G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	35	5.468472	0.96274	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.82	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34828	N	0.003655	T	0.63965	0.2556	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;1.0;0.996	T	0.66814	-0.5828	10	0.66056	D	0.02	.	18.2874	0.90119	0.0:0.0:1.0:0.0	.	183;183;183;183	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	183	ENSP00000353030:R183H;ENSP00000398822:R183H;ENSP00000361491:R183H;ENSP00000361490:R183H;ENSP00000413306:R183H	ENSP00000353030:R183H	R	+	2	0	PTPRF	43808016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.401000	0.81631	0.561000	0.74099	CGC		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	26	0	0	0	1	0	3	26				
LRP2BP	55805	broad.mit.edu	37	4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	rs201973995	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:186295495G>A	ENST00000328559.7	-	4	1262	c.451C>T	c.(451-453)Cga>Tga	p.R151*	LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000362004.3_Nonsense_Mutation_p.R153*|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0					ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(457-459)Cga>Tga		LRP2 binding protein		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	180.0	170.0	173.0		451	4.7	0.2	4		173	0,8600		0,0,4300	yes	stop-gained	LRP2BP	NM_018409.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		151/348	186295495	2,13004	2203	4300	6503	SO:0001587	stop_gained	55805					cytoplasm	protein binding	g.chr4:186295495G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.451C>T	4.37:g.186295495G>A	ENSP00000332681:p.Arg151*					RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*	p.R153*			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1268	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	151					A6NJR7|A7E219|B3KX83|Q9NSN6	Nonsense_Mutation	SNP	ENST00000328559.7	37	c.457C>T	CCDS3840.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	50	16.899404	0.99874	4.54E-4	0.0	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	.	.	.	5.56	4.66	0.58398	.	0.348304	0.28109	N	0.016572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.8142	13.9676	0.64218	0.0:0.0:0.6787:0.3213	.	.	.	.	X	153;151;125;151;151	.	ENSP00000332681:R151X	R	-	1	2	LRP2BP	186532489	0.081000	0.21417	0.205000	0.23548	0.678000	0.39670	2.278000	0.43426	1.304000	0.44892	0.563000	0.77884	CGA		0.388	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		5	75	0	0	0	1	0	5	75				
ECEL1	9427	broad.mit.edu	37	2	233349567	233349567	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:233349567C>T	ENST00000304546.1	-	5	1213	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	335					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGGAGCTGACATCTCGCCGT	0.612																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1003-1005)Gtc>Atc		endothelin converting enzyme-like 1							130.0	113.0	119.0					2																	233349567		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349567C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1003G>A	2.37:g.233349567C>T	ENSP00000302051:p.Val335Ile					ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	1213	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	335					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1003G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234178	0.09969	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74947	-0.89;-0.89	5.07	1.78	0.24846	Peptidase M13 (1);	0.198042	0.43919	D	0.000513	T	0.44095	0.1277	N	0.02854	-0.475	0.34638	D	0.72035	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35126	-0.9801	10	0.33940	T	0.23	-31.6071	5.0622	0.14562	0.0:0.4512:0.1483:0.4005	.	335;335	O95672-2;O95672	.;ECEL1_HUMAN	I	335	ENSP00000302051:V335I;ENSP00000386333:V335I	ENSP00000302051:V335I	V	-	1	0	ECEL1	233057811	0.996000	0.38824	0.637000	0.29366	0.152000	0.21847	2.916000	0.48813	0.662000	0.31006	-0.217000	0.12591	GTC		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		6	56	0	0	0	1	0	6	56				
DSC2	1824	broad.mit.edu	37	18	28651576	28651576	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:28651576A>C	ENST00000280904.6	-	13	2563	c.2120T>G	c.(2119-2121)cTc>cGc	p.L707R	DSC2_ENST00000251081.6_Missense_Mutation_p.L707R|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	707					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTACAAAAGAGCAATGCTAT	0.413																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2119-2121)cTc>cGc		desmocollin 2							102.0	99.0	100.0					18																	28651576		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651576A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2120T>G	18.37:g.28651576A>C	ENSP00000280904:p.Leu707Arg					DSC2_ENST00000251081.6_Missense_Mutation_p.L707R	p.L707R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2563	-			707						Missense_Mutation	SNP	ENST00000280904.6	37	c.2120T>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.780904	0.70222	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.72615	-0.49;-0.67	6.07	4.91	0.64330	.	0.000000	0.27362	N	0.019706	D	0.85146	0.5630	M	0.87827	2.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.86854	0.2025	10	0.87932	D	0	.	12.3182	0.54969	0.9341:0.0:0.0659:0.0	.	707;707	Q02487;Q02487-2	DSC2_HUMAN;.	R	707;707;473;720	ENSP00000251081:L707R;ENSP00000280904:L707R	ENSP00000251081:L707R	L	-	2	0	DSC2	26905574	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	6.340000	0.72973	1.110000	0.41699	0.477000	0.44152	CTC		0.413	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	49	0	0	0	1	0	3	49				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			19	48	0	0	0	1	0	19	48				
HK3	3101	broad.mit.edu	37	5	176316702	176316702	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:176316702C>T	ENST00000292432.5	-	7	765	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	225	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCATGGTGCCCACTGTGTC	0.587																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(673-675)gGc>gAc		hexokinase 3 (white cell)							193.0	156.0	168.0					5																	176316702		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316702C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.674G>A	5.37:g.176316702C>T	ENSP00000292432:p.Gly225Asp						p.G225D	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	765	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	225			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.674G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202380	0.94997	.	.	ENSG00000160883	ENST00000292432	D	0.99716	-6.51	5.56	5.56	0.83823	Hexokinase, N-terminal (1);	0.000000	0.56097	D	0.000030	D	0.99806	0.9916	M	0.93328	3.405	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.97163	0.9839	10	0.87932	D	0	-25.403	19.1303	0.93402	0.0:1.0:0.0:0.0	.	225	P52790	HXK3_HUMAN	D	225	ENSP00000292432:G225D	ENSP00000292432:G225D	G	-	2	0	HK3	176249308	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.472000	0.60189	2.624000	0.88883	0.462000	0.41574	GGC		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			6	49	0	0	0	1	0	6	49				
KIF1C	10749	broad.mit.edu	37	17	4905406	4905406	+	Missense_Mutation	SNP	C	C	T	rs578027417		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:4905406C>T	ENST00000320785.5	+	6	773	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	139	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCTCAGCTATCCTACTCTGTG	0.572																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(415-417)tCc>tTc		kinesin family member 1C							109.0	94.0	99.0					17																	4905406		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905406C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.416C>T	17.37:g.4905406C>T	ENSP00000320821:p.Ser139Phe						p.S139F	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			6	773	+			139			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.416C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259400	0.95368	.	.	ENSG00000129250	ENST00000320785	T	0.76186	-1.0	5.45	5.45	0.79879	Kinesin, motor domain (4);	.	.	.	.	D	0.87241	0.6128	M	0.84326	2.69	0.58432	D	0.999994	D	0.71674	0.998	D	0.79108	0.992	D	0.88611	0.3156	9	0.87932	D	0	.	17.1494	0.86774	0.0:1.0:0.0:0.0	.	139	O43896	KIF1C_HUMAN	F	139	ENSP00000320821:S139F	ENSP00000320821:S139F	S	+	2	0	KIF1C	4846130	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.636000	0.83301	2.740000	0.93945	0.561000	0.74099	TCC		0.572	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	106	0	0	0	1	0	6	106				
CYP4Z2P	163720	broad.mit.edu	37	1	47325399	47325399	+	RNA	SNP	G	G	A	rs577123404	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:47325399G>A	ENST00000505841.1	-	0	1130					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CTACCGGTGCGTAGAGGCGGA	0.473													G|||	3	0.000599042	0.0	0.0	5008	,	,		21110	0.003		0.0	False		,,,				2504	0.0					ENST00000505841.1																			0																																																			0							g.chr1:47325399G>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325399G>A								NR_002788.2						0	1130	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.473	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		4	58	0	0	0	1	0	4	58				
SLC2A14	144195	broad.mit.edu	37	12	7984361	7984361	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:7984361C>T	ENST00000543909.1	-	9	940		c.e9-1		SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000340749.5_Splice_Site|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCTTTATGATCTGCAAAATAA	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.e9-1		solute carrier family 2 (facilitated glucose transporter), member 14							74.0	72.0	73.0					12																	7984361		2203	4300	6503	SO:0001630	splice_region_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984361C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.181-1G>A	12.37:g.7984361C>T			OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Splice_Site				Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	940	-								B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Splice_Site	SNP	ENST00000543909.1	37		CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498481	0.64298	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0485	0.58942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC2A14	7875628	1.000000	0.71417	0.967000	0.41034	0.533000	0.34776	5.217000	0.65252	1.704000	0.51252	0.585000	0.79938	.		0.448	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	Intron	23	44	0	0	0	1	0	23	44				
ILVBL	10994	broad.mit.edu	37	19	15227282	15227282	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:15227282G>T	ENST00000263383.3	-	11	1377	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	413						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGCCCAGGTCTGGCCCTG	0.637																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1237-1239)aCc>aAc		ilvB (bacterial acetolactate synthase)-like							52.0	54.0	53.0					19																	15227282		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15227282G>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1238C>A	19.37:g.15227282G>T	ENSP00000263383:p.Thr413Asn					ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N	p.T413N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			11	1377	-			413					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1238C>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	0.926	-0.714275	0.03206	.	.	ENSG00000105135	ENST00000263383	T	0.41400	1.0	5.41	0.657	0.17850	.	0.240920	0.40064	N	0.001183	T	0.30070	0.0753	L	0.55481	1.735	0.20821	N	0.999849	B	0.02656	0.0	B	0.08055	0.003	T	0.19877	-1.0292	10	0.19147	T	0.46	-4.9739	5.7298	0.18032	0.2318:0.0:0.6321:0.136	.	413	A1L0T0	ILVBL_HUMAN	N	413	ENSP00000263383:T413N	ENSP00000263383:T413N	T	-	2	0	ILVBL	15088282	0.026000	0.19158	0.101000	0.21167	0.212000	0.24457	0.162000	0.16501	-0.005000	0.14395	0.561000	0.74099	ACC		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		3	61	1	0	0.0215528	1	0.0220784	3	61				
UGGT1	56886	broad.mit.edu	37	2	128941352	128941352	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:128941352A>G	ENST00000259253.6	+	38	4395	c.4348A>G	c.(4348-4350)Aat>Gat	p.N1450D	UGGT1_ENST00000375990.3_Missense_Mutation_p.N1426D	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1450	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCCTTTCAAATCTTGATCA	0.413																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4276-4278)Aat>Gat		UDP-glucose glycoprotein glucosyltransferase 1							150.0	142.0	145.0					2																	128941352		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128941352A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4348A>G	2.37:g.128941352A>G	ENSP00000259253:p.Asn1450Asp					UGGT1_ENST00000259253.6_Missense_Mutation_p.N1450D	p.N1426D			Q9NYU2	UGGG1_HUMAN			38	4679	+			1450			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4276A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668162	0.88348	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.39056	1.1;1.1	4.66	4.66	0.58398	.	0.047471	0.85682	D	0.000000	T	0.73249	0.3563	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82034	-0.0657	9	.	.	.	.	14.5477	0.68044	1.0:0.0:0.0:0.0	.	1450	Q9NYU2	UGGG1_HUMAN	D	1426;1450	ENSP00000365158:N1426D;ENSP00000259253:N1450D	.	N	+	1	0	UGGT1	128657822	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.598000	0.90852	2.084000	0.62774	0.460000	0.39030	AAT		0.413	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		12	21	0	0	0	1	0	12	21				
TEX2	55852	broad.mit.edu	37	17	62291171	62291171	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:62291171G>A	ENST00000583097.1	-	2	579	c.407C>T	c.(406-408)cCa>cTa	p.P136L	TEX2_ENST00000258991.3_Missense_Mutation_p.P136L|TEX2_ENST00000584379.1_Missense_Mutation_p.P136L			Q8IWB9	TEX2_HUMAN	testis expressed 2	136					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGACGACCCTGGGGACACAGC	0.537																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(406-408)cCa>cTa		testis expressed 2							79.0	83.0	82.0					17																	62291171		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291171G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.407C>T	17.37:g.62291171G>A	ENSP00000462665:p.Pro136Leu					TEX2_ENST00000583097.1_Missense_Mutation_p.P136L|TEX2_ENST00000584379.1_Missense_Mutation_p.P136L	p.P136L			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	491	-			136					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.407C>T		.	.	.	.	.	.	.	.	.	.	G	9.973	1.226133	0.22542	.	.	ENSG00000136478	ENST00000258991	T	0.52983	0.64	5.47	3.37	0.38596	.	0.106982	0.41938	D	0.000788	T	0.31638	0.0803	L	0.27053	0.805	0.48185	D	0.999607	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.10405	-1.0631	10	0.37606	T	0.19	-8.1264	8.4285	0.32744	0.0779:0.0:0.7694:0.1526	.	136;136	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	136	ENSP00000258991:P136L	ENSP00000258991:P136L	P	-	2	0	TEX2	59644903	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	5.163000	0.64948	1.317000	0.45149	0.561000	0.74099	CCA		0.537	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		39	85	0	0	0	1	0	39	85				
RGS22	26166	broad.mit.edu	37	8	101075815	101075815	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr8:101075815G>A	ENST00000360863.6	-	8	1375	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	RGS22_ENST00000523287.1_Missense_Mutation_p.P213L|RGS22_ENST00000523437.1_Missense_Mutation_p.P382L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	394					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTGCTCTCTGGTCCAGCGCT	0.368																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1180-1182)cCa>cTa		regulator of G-protein signaling 22							145.0	132.0	136.0					8																	101075815		1890	4108	5998	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075815G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1181C>T	8.37:g.101075815G>A	ENSP00000354109:p.Pro394Leu					RGS22_ENST00000523437.1_Missense_Mutation_p.P382L|RGS22_ENST00000523287.1_Missense_Mutation_p.P213L	p.P394L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1375	-			394					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1181C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	5.441	0.266509	0.10294	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.62498	0.02;0.02;0.02	5.68	2.73	0.32206	Regulator of G protein signalling superfamily (1);	0.861334	0.10312	N	0.689820	T	0.45677	0.1354	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.28554	-1.0040	10	0.25751	T	0.34	.	5.6952	0.17851	0.2179:0.0:0.6451:0.1371	.	382;394;213	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	394;382;213;382	ENSP00000354109:P394L;ENSP00000429382:P213L;ENSP00000428212:P382L	ENSP00000354109:P394L	P	-	2	0	RGS22	101144991	0.002000	0.14202	0.025000	0.17156	0.026000	0.11368	1.001000	0.29783	0.765000	0.33221	0.650000	0.86243	CCA		0.368	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		11	95	0	0	0	1	0	11	95				
ZSCAN21	7589	broad.mit.edu	37	7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1201-1203)gCg>gTg		zinc finger and SCAN domain containing 21							87.0	82.0	84.0					7																	99662020		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662020C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1202C>T	7.37:g.99662020C>T	ENSP00000292450:p.Ala401Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	p.A401V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1366	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		401					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1202C>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.269217|3.269217	0.59540|0.59540	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.01068|0.02236	5.38|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.03136|0.03136	0.0092|0.0092	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	D|D	0.71674|0.63880	0.998|0.993	B|P	0.42030|0.47705	0.373|0.555	T|T	0.54009|0.54009	-0.8357|-0.8357	10|9	0.87932|0.87932	D|D	0|0	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	401|367	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|W	401;376|367	ENSP00000292450:A401V|ENSP00000441212:R367W;ENSP00000390960:R367W	ENSP00000292450:A401V|ENSP00000390960:R367W	A|R	+|+	2|1	0|2	ZSCAN21|ZSCAN21	99499956|99499956	0.000000|0.000000	0.05858|0.05858	0.954000|0.954000	0.39281|0.39281	0.389000|0.389000	0.30415|0.30415	0.403000|0.403000	0.20982|0.20982	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.522	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		4	120	0	0	0	1	0	4	120				
NYX	60506	broad.mit.edu	37	X	41333636	41333636	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:41333636C>T	ENST00000342595.2	+	2	1386	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NYX_ENST00000378220.1_Silent_p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	310					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TGCACCTCAACGGCAACCGCC	0.677																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(928-930)aaC>aaT		nyctalopin							43.0	40.0	41.0					X																	41333636		2202	4299	6501	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333636C>T	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.930C>T	X.37:g.41333636C>T						NYX_ENST00000378220.1_Silent_p.N310N	p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1386	+			310					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.930C>T	CCDS14256.1																																																																																				0.677	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		22	60	0	0	0	1	0	22	60				
PPIP5K2	23262	broad.mit.edu	37	5	102519070	102519070	+	Silent	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:102519070T>C	ENST00000358359.3	+	25	3567	c.3058T>C	c.(3058-3060)Ttg>Ctg	p.L1020L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000321521.9_Silent_p.L1020L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1020					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAAATCATTGGCTTTCAC	0.453																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3058-3060)Ttg>Ctg		diphosphoinositol pentakisphosphate kinase 2							112.0	108.0	109.0					5																	102519070		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102519070T>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3058T>C	5.37:g.102519070T>C						PPIP5K2_ENST00000358359.3_Silent_p.L1020L|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000513500.1_3'UTR	p.L1020L			O43314	VIP2_HUMAN			25	3631	+			1020					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.3058T>C																																																																																					0.453	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		25	77	0	0	0	1	0	25	77				
DNAH8	1769	broad.mit.edu	37	6	38790794	38790794	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:38790794G>A	ENST00000359357.3	+	25	3307	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1018					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGAGGACCGCGATGTGAAA	0.453																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3052-3054)cGc>cAc		dynein, axonemal, heavy chain 8							109.0	112.0	111.0					6																	38790794		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790794G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3053G>A	6.37:g.38790794G>A	ENSP00000352312:p.Arg1018His					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H	p.R1018H							25	3307	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3053G>A		.	.	.	.	.	.	.	.	.	.	G	14.87	2.664416	0.47572	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26810	1.76;1.76;1.71	5.53	5.53	0.82687	.	0.260095	0.28635	N	0.014649	T	0.28797	0.0714	L	0.59436	1.845	0.41946	D	0.99063	D	0.63880	0.993	P	0.54346	0.749	T	0.02345	-1.1173	10	0.56958	D	0.05	.	12.9808	0.58562	0.0768:0.0:0.9232:0.0	.	1018	Q96JB1	DYH8_HUMAN	H	1223;1223;1018;1018	ENSP00000333363:R1223H;ENSP00000352312:R1018H;ENSP00000402294:R1018H	ENSP00000333363:R1223H	R	+	2	0	DNAH8	38898772	1.000000	0.71417	0.843000	0.33291	0.006000	0.05464	3.491000	0.53252	2.601000	0.87937	0.467000	0.42956	CGC		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		23	39	0	0	0	1	0	23	39				
OPN1MW	2652	broad.mit.edu	37	X	153459015	153459015	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153459015C>T	ENST00000369935.5	+	5	921	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	287					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCTTCTTCGCATGCTTTG	0.562																																						ENST00000369935.5																			0				endometrium(1)|lung(1)	2						c.(859-861)ttC>ttT		opsin 1 (cone pigments), medium-wave-sensitive							219.0	236.0	231.0					X																	153459015		1580	3879	5459	SO:0001819	synonymous_variant	2652				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153459015C>T	K03494	CCDS14743.1	Xq28	2013-01-08	2008-04-16		ENSG00000147380	ENSG00000268221		"""GPCR / Class A : Opsin receptors"""	4206	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300821	"""color blindness, deutan"", ""green cone photoreceptor pigment"""	GCP, CBBM, CBD			Standard	NM_000513		Approved	OPN1MW1, COD5	uc004fkb.3	P04001	OTTHUMG00000022652	ENST00000369935.5:c.861C>T	X.37:g.153459015C>T							p.F287F	NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN			5	921	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		287						Silent	SNP	ENST00000369935.5	37	c.861C>T	CCDS14743.1																																																																																				0.562	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058771.3	NM_000513		18	153	0	0	0	1	0	18	153				
REPS1	85021	broad.mit.edu	37	6	139264996	139264996	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:139264996T>G	ENST00000450536.2	-	6	1484	c.910A>C	c.(910-912)Att>Ctt	p.I304L	REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L|REPS1_ENST00000415951.2_Missense_Mutation_p.I304L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	304	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCACCTGGAATAAATCCGTTT	0.328																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(910-912)Att>Ctt		RALBP1 associated Eps domain containing 1							110.0	104.0	106.0					6																	139264996		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139264996T>G		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.910A>C	6.37:g.139264996T>G	ENSP00000392065:p.Ile304Leu					REPS1_ENST00000415951.2_Missense_Mutation_p.I304L|REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L	p.I304L			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	6	1484	-			304			EH 2.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.910A>C		.	.	.	.	.	.	.	.	.	.	T	15.75	2.927092	0.52759	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	6.01	6.01	0.97437	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.30741	0.006;0.293;0.004;0.004	P;D;P;P	0.71656	0.628;0.974;0.756;0.528	T	0.51631	-0.8681	10	0.19590	T	0.45	-17.2772	16.5285	0.84344	0.0:0.0:0.0:1.0	.	304;304;304;304	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	L	304;304;290;304;304;304;252	ENSP00000392065:I304L;ENSP00000356635:I304L;ENSP00000434251:I290L;ENSP00000386699:I304L;ENSP00000258062:I304L;ENSP00000397941:I304L	ENSP00000258062:I304L	I	-	1	0	REPS1	139306689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.307000	0.77673	0.528000	0.53228	ATT		0.328	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			21	47	0	0	0	1	0	21	47				
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		4	7						4	7	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	237						8	237	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		2	4						2	4	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441																																						ENST00000334746.5																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.K58fs*44(2)|p.R59fs*14(2)	large_intestine(4)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(172-174)aagfs		BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	55727							g.chr14:93761192_93761193insT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.174dupA	14.37:g.93761200_93761200dupT	ENSP00000335615:p.Lys58fs					BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron	p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	480_481	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	c.173_174insA	CCDS32146.1																																																																																				0.441	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	223						7	223	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9452027	9452028	+	Intron	DEL	CT	CT	-	rs55837495|rs201124569|rs398059552	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:9452027_9452028delCT	ENST00000393883.2	+	5	891				ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF559_ENST00000592504.1_Frame_Shift_Del_p.T137fs	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGACAAACACTCTAAACATCC	0.347														2623	0.523762	0.5166	0.5317	5008	,	,		18993	0.4514		0.5606	False		,,,				2504	0.5644					ENST00000592504.1																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(409-411)afs		zinc finger protein 559																																				SO:0001627	intron_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452027_9452028delCT	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.243+167CT>-	19.37:g.9452029_9452030delCT						ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000393883.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000602856.1_Intron	p.T137fs			Q9BR84	ZN559_HUMAN			6	665_666	+			0					K7EMG6	Frame_Shift_Del	DEL	ENST00000393883.2	37	c.410_411delCT	CCDS12211.1																																																																																				0.347	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		3	3						3	3	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		3	3						3	3	---	---	---	---
