#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
PTPRO	5800	broad.mit.edu	37	12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1148	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACATTCATTGCCCTGGACAG	0.468																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3442-3444)Gcc>Acc		protein tyrosine phosphatase, receptor type, O							207.0	187.0	194.0					12																	15742420		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742420G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3442G>A	12.37:g.15742420G>A	ENSP00000281171:p.Ala1148Thr					PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T	p.A1148T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3772	+		Hepatocellular(102;0.244)	1148			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3442G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934626	0.92458	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.1	4.21	0.49690	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.49305	D	0.000146	T	0.26629	0.0651	L	0.52364	1.645	0.58432	D	0.999999	B;D;D	0.63046	0.232;0.99;0.992	B;P;P	0.57283	0.143;0.721;0.817	T	0.03969	-1.0988	10	0.12103	T	0.63	.	13.5246	0.61586	0.0747:0.0:0.9253:0.0	.	309;1120;1148	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	T	1148;1120;337;309;337;309	ENSP00000281171:A1148T;ENSP00000343434:A1120T;ENSP00000404188:A337T;ENSP00000437571:A309T;ENSP00000393449:A337T;ENSP00000439234:A309T	ENSP00000281171:A1148T	A	+	1	0	PTPRO	15633687	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	7.652000	0.83633	1.383000	0.46405	0.561000	0.74099	GCC		0.468	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			47	105	0	0	0	1	0	47	105				
PNLIP	5406	broad.mit.edu	37	10	118307881	118307881	+	Missense_Mutation	SNP	G	G	A	rs374563946		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:118307881G>A	ENST00000369221.2	+	4	239	c.211G>A	c.(211-213)Gca>Aca	p.A71T	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	71					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGAAGTTGCCGCAGATTCATC	0.403													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19822	0.0		0.0	False		,,,				2504	0.0					ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(211-213)Gca>Aca		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						128.0	135.0	132.0					10																	118307881		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307881G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.211G>A	10.37:g.118307881G>A	ENSP00000358223:p.Ala71Thr					PNLIP_ENST00000470562.1_3'UTR	p.A71T	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	239	+			71					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.211G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953899	0.34471	.	.	ENSG00000175535	ENST00000369221	D	0.90197	-2.63	5.39	3.41	0.39046	Lipase, N-terminal (1);	0.426572	0.16310	U	0.220048	T	0.81550	0.4846	N	0.16862	0.45	0.30170	N	0.801342	B	0.17268	0.021	B	0.11329	0.006	T	0.73461	-0.3975	10	0.24483	T	0.36	.	11.1893	0.48675	0.0:0.1332:0.7201:0.1467	.	71	P16233	LIPP_HUMAN	T	71	ENSP00000358223:A71T	ENSP00000358223:A71T	A	+	1	0	PNLIP	118297871	0.909000	0.30893	0.862000	0.33874	0.085000	0.17905	1.274000	0.33132	1.454000	0.47793	0.585000	0.79938	GCA		0.403	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		35	71	0	0	0	1	0	35	71				
CNOT2	4848	broad.mit.edu	37	12	70735908	70735908	+	Silent	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:70735908G>T	ENST00000418359.3	+	13	1651	c.1200G>T	c.(1198-1200)gcG>gcT	p.A400A	CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000551483.1_Silent_p.A51A	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	400					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCAAATTTGCGTCACCCTGGG	0.338																																						ENST00000551483.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(151-153)gcG>gcT		CCR4-NOT transcription complex, subunit 2							129.0	128.0	129.0					12																	70735908		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70735908G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1200G>T	12.37:g.70735908G>T						CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000418359.3_Silent_p.A400A	p.A51A			Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	4308	+	Renal(347;0.236)		400					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.153G>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095744	0.20552	.	.	ENSG00000111596	ENST00000552599;ENST00000548338	.	.	.	5.79	3.42	0.39159	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50709	-0.8796	4	.	.	.	-1.1205	7.8887	0.29665	0.7627:0.0:0.2373:0.0	.	.	.	.	F	111;27	.	.	V	+	1	0	CNOT2	69022175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.996000	0.40776	0.456000	0.26937	-0.247000	0.11927	GTC		0.338	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			4	102	1	0	1.23904e-05	1	1.34375e-05	4	102				
BCRP7	100133163	broad.mit.edu	37	22	18846020	18846020	+	3'UTR	SNP	T	T	C	rs1064861	byFrequency	TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr22:18846020T>C	ENST00000412938.1	+	0	3378																											TCACTGACGTTGAAGGCTGCC	0.637													t|||	4	0.000798722	0.0	0.0	5008	,	,		35350	0.001		0.0	False		,,,				2504	0.0031					ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846020T>C																												ENST00000412938.1:c.*3375T>C	22.37:g.18846020T>C														0	3378	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.637	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	85	0	0	0	1	0	4	85				
DCHS1	8642	broad.mit.edu	37	11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:6649894G>C	ENST00000299441.3	-	13	5740	c.5329C>G	c.(5329-5331)Cca>Gca	p.P1777A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1777	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACATCTGGATCAGAGGCC	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(5329-5331)Cca>Gca		dachsous cadherin-related 1							106.0	96.0	99.0					11																	6649894		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6649894G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5329C>G	11.37:g.6649894G>C	ENSP00000299441:p.Pro1777Ala						p.P1777A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5740	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1777			Cadherin 17.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5329C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695931	0.48202	.	.	ENSG00000166341	ENST00000299441	T	0.48201	0.82	4.91	4.91	0.64330	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000409	T	0.37812	0.1017	N	0.25825	0.765	0.29495	N	0.85534	P	0.48162	0.906	P	0.49085	0.6	T	0.22521	-1.0214	10	0.02654	T	1	.	13.0742	0.59077	0.0:0.1611:0.8389:0.0	.	1777	Q96JQ0	PCD16_HUMAN	A	1777	ENSP00000299441:P1777A	ENSP00000299441:P1777A	P	-	1	0	DCHS1	6606470	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.216000	0.58540	2.561000	0.86390	0.563000	0.77884	CCA		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		23	42	0	0	0	1	0	23	42				
ZFHX4	79776	broad.mit.edu	37	8	77616490	77616490	+	Missense_Mutation	SNP	G	G	A	rs192355194		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:77616490G>A	ENST00000521891.2	+	2	615	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGAGCGCAAAAGTGAA	0.498										HNSCC(33;0.089)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		19288	0.0		0.0	False		,,,				2504	0.0					ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(166-168)cGc>cAc		zinc finger homeobox 4							84.0	89.0	88.0					8																	77616490		2061	4222	6283	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616490G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.167G>A	8.37:g.77616490G>A	ENSP00000430497:p.Arg56His	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H	p.R56H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	615	+			56					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.167G>A	CCDS47878.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.35	2.509662	0.44660	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.51325	0.71;0.75;0.72;1.43;0.85;1.43;0.85;0.71	5.53	4.64	0.57946	.	0.000000	0.45361	U	0.000366	T	0.34395	0.0896	N	0.19112	0.55	0.40733	D	0.98276	B;B;B;D	0.54964	0.04;0.067;0.067;0.969	B;B;B;B	0.41571	0.006;0.008;0.013;0.36	T	0.33007	-0.9885	10	0.56958	D	0.05	.	14.9651	0.71184	0.0695:0.0:0.9305:0.0	.	56;56;56;56	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	56	ENSP00000430497:R56H;ENSP00000399605:R56H;ENSP00000050961:R56H;ENSP00000428525:R56H;ENSP00000429495:R56H;ENSP00000427775:R56H;ENSP00000427739:R56H;ENSP00000430848:R56H	ENSP00000050961:R56H	R	+	2	0	ZFHX4	77779045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.013000	0.70776	2.882000	0.98803	0.655000	0.94253	CGC		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	79	0	0	0	1	0	9	79				
MIOS	54468	broad.mit.edu	37	7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:7613322A>G	ENST00000340080.4	+	4	1637	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	406						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGACTTGATACAGAGCAGGT	0.373																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1216-1218)Aca>Gca		missing oocyte, meiosis regulator, homolog (Drosophila)							93.0	88.0	90.0					7																	7613322		1873	4111	5984	SO:0001583	missense	54468							g.chr7:7613322A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1216A>G	7.37:g.7613322A>G	ENSP00000339881:p.Thr406Ala					MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	1637	+			406					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1216A>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	9.620	1.133640	0.21123	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	.	0.049316	0.85682	D	0.000000	T	0.31231	0.0790	L	0.32530	0.975	0.80722	D	1	B	0.15719	0.014	B	0.20955	0.032	T	0.14420	-1.0473	10	0.02654	T	1	-19.3527	16.275	0.82640	1.0:0.0:0.0:0.0	.	406	Q9NXC5	MIO_HUMAN	A	406	ENSP00000339881:T406A;ENSP00000384088:T406A	ENSP00000339881:T406A	T	+	1	0	MIOS	7579847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.896000	0.92521	2.299000	0.77371	0.528000	0.53228	ACA		0.373	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		5	81	0	0	0	1	0	5	81				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	35	0	0	0	1	0	3	35				
RRNAD1	51093	broad.mit.edu	37	1	156704062	156704062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:156704062C>T	ENST00000368216.4	+	6	1528	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	300						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCACTGAGTCAGTGGGTGGC	0.627																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(898-900)Cag>Tag		ribosomal RNA adenine dimethylase domain containing 1							57.0	54.0	55.0					1																	156704062		2203	4300	6503	SO:0001587	stop_gained	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704062C>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.898C>T	1.37:g.156704062C>T	ENSP00000357199:p.Gln300*					RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	p.Q300*	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1528	+			300					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Nonsense_Mutation	SNP	ENST00000368216.4	37	c.898C>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142065	0.94560	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	.	.	.	5.28	3.27	0.37495	.	0.501719	0.22476	N	0.059545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8351	3.5574	0.07869	0.177:0.5618:0.1708:0.0905	.	.	.	.	X	300;279	.	ENSP00000357199:Q300X	Q	+	1	0	RRNAD1	154970686	0.147000	0.22687	1.000000	0.80357	0.980000	0.70556	0.029000	0.13666	1.227000	0.43598	-0.305000	0.09177	CAG		0.627	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		8	43	0	0	0	1	0	8	43				
POLR3B	55703	broad.mit.edu	37	12	106838328	106838328	+	Silent	SNP	G	G	A	rs372517855		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:106838328G>A	ENST00000228347.4	+	19	2265	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	POLR3B_ENST00000539066.1_Silent_p.P623P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	681					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACCAGTCACCGAGAAACACTT	0.443																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2041-2043)ccG>ccA		polymerase (RNA) III (DNA directed) polypeptide B		G	,	1,4405	2.1+/-5.4	0,1,2202	147.0	117.0	127.0		1869,2043	-0.4	1.0	12		127	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	623/1076,681/1134	106838328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106838328G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2043G>A	12.37:g.106838328G>A						POLR3B_ENST00000539066.1_Silent_p.P623P	p.P681P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			19	2265	+			681					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.2043G>A	CCDS9105.1																																																																																				0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		13	29	0	0	0	1	0	13	29				
ARHGEF1	9138	broad.mit.edu	37	19	42392871	42392871	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:42392871C>T	ENST00000354532.3	+	4	308	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R54W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	54	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCAGGTGAAGCGGCGCCCAGC	0.647																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(160-162)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 1							55.0	52.0	53.0					19																	42392871		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42392871C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.160C>T	19.37:g.42392871C>T	ENSP00000346532:p.Arg54Trp					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R54W	p.R54W			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	4	285	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	54			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.160C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696006	0.68386	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.23	2.06	0.26882	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.659654	0.13705	N	0.368535	D	0.82857	0.5128	L	0.36672	1.1	0.25653	N	0.986078	D;D;D;D;D	0.89917	0.999;0.995;0.998;0.996;1.0	P;P;P;P;D	0.73380	0.867;0.501;0.721;0.655;0.98	T	0.70085	-0.4969	10	0.87932	D	0	-14.5144	2.5752	0.04805	0.1964:0.5095:0.1897:0.1044	.	69;69;54;54;114	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	W	54;54;90;69;69	ENSP00000346532:R54W;ENSP00000344429:R54W;ENSP00000337261:R69W;ENSP00000367394:R69W	ENSP00000323044:R90W	R	+	1	2	ARHGEF1	47084711	0.137000	0.22531	0.998000	0.56505	0.992000	0.81027	0.168000	0.16622	1.119000	0.41883	0.585000	0.79938	CGG		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		25	36	0	0	0	1	0	25	36				
RBP3	5949	broad.mit.edu	37	10	48389662	48389662	+	Missense_Mutation	SNP	C	C	T	rs576373730		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:48389662C>T	ENST00000224600.4	-	1	1329	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	406	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E406K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652																																						ENST00000224600.4																			1	Substitution - Missense(1)	p.E406K(1)	central_nervous_system(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1216-1218)Gaa>Aaa		retinol binding protein 3, interstitial	Vitamin A(DB00162)						39.0	40.0	40.0					10																	48389662		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389662C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1216G>A	10.37:g.48389662C>T	ENSP00000224600:p.Glu406Lys						p.E406K	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1329	-			406			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1216G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416011	0.25552	.	.	ENSG00000107618	ENST00000224600	T	0.63744	-0.06	5.43	2.47	0.30058	.	1.032620	0.07630	N	0.928425	T	0.55893	0.1949	L	0.48362	1.52	0.09310	N	1	D	0.69078	0.997	B	0.44163	0.443	T	0.45205	-0.9277	10	0.62326	D	0.03	-2.6457	5.8616	0.18752	0.0:0.6688:0.1585:0.1727	.	406	P10745	RET3_HUMAN	K	406	ENSP00000224600:E406K	ENSP00000224600:E406K	E	-	1	0	RBP3	48009668	0.442000	0.25633	0.000000	0.03702	0.027000	0.11550	2.522000	0.45572	0.241000	0.21283	0.561000	0.74099	GAA		0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	45	0	0	0	1	0	4	45				
RBM27	54439	broad.mit.edu	37	5	145664215	145664215	+	Missense_Mutation	SNP	C	C	T	rs199579077		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:145664215C>T	ENST00000265271.5	+	20	3185	c.3019C>T	c.(3019-3021)Cgt>Tgt	p.R1007C	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1007					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTAAAGACCGTCGGCTACA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		14425	0.001		0.0	False		,,,				2504	0.0					ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3019-3021)Cgt>Tgt		RNA binding motif protein 27		C	CYS/ARG	3,3133		0,3,1565	106.0	102.0	103.0		3019	6.0	1.0	5		103	0,7164		0,0,3582	yes	missense	RBM27	NM_018989.1	180	0,3,5147	TT,TC,CC		0.0,0.0957,0.0291	probably-damaging	1007/1061	145664215	3,10297	1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145664215C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3019C>T	5.37:g.145664215C>T	ENSP00000265271:p.Arg1007Cys					RBM27_ENST00000506502.1_Intron	p.R1007C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3185	+			1007					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.3019C>T	CCDS43378.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.151044	0.94645	9.57E-4	0.0	ENSG00000091009	ENST00000265271	T	0.50277	0.75	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66666	-0.5866	10	0.87932	D	0	-11.5556	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1007	Q9P2N5	RBM27_HUMAN	C	1007	ENSP00000265271:R1007C	ENSP00000265271:R1007C	R	+	1	0	RBM27	145644408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.865000	0.75500	2.861000	0.98227	0.655000	0.94253	CGT		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		49	69	0	0	0	1	0	49	69				
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	C	G	rs375570357		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:53079446C>G	ENST00000276480.7	-	11	1853	c.1170G>C	c.(1168-1170)tcG>tcC	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562																																						ENST00000276480.7																			1	Substitution - coding silent(1)	p.S390S(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1168-1170)tcG>tcC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							89.0	89.0	89.0					8																	53079446		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079446C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1170G>C	8.37:g.53079446C>G							p.S390S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1853	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	390					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1170G>C	CCDS6149.1																																																																																				0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			10	82	0	0	0	1	0	10	82				
RP1	6101	broad.mit.edu	37	8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:55538088T>C	ENST00000220676.1	+	4	1794	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	549					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGCTGGTGTTATAGAAATT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1645-1647)gTt>gCt		retinitis pigmentosa 1 (autosomal dominant)							80.0	83.0	82.0					8																	55538088		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538088T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1646T>C	8.37:g.55538088T>C	ENSP00000220676:p.Val549Ala						p.V549A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1794	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	549						Missense_Mutation	SNP	ENST00000220676.1	37	c.1646T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265590	0.23136	.	.	ENSG00000104237	ENST00000220676	T	0.29142	1.58	5.52	4.37	0.52481	.	0.419548	0.20074	N	0.099796	T	0.22975	0.0555	L	0.39898	1.24	0.20307	N	0.999919	B	0.29909	0.261	B	0.20184	0.028	T	0.10941	-1.0608	10	0.33141	T	0.24	.	10.5982	0.45352	0.0:0.0761:0.0:0.9239	.	549	P56715	RP1_HUMAN	A	549	ENSP00000220676:V549A	ENSP00000220676:V549A	V	+	2	0	RP1	55700641	0.991000	0.36638	0.901000	0.35422	0.969000	0.65631	1.793000	0.38764	0.942000	0.37525	0.528000	0.53228	GTT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		19	33	0	0	0	1	0	19	33				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	71	0	0	0	1	0	9	71				
RCL1	10171	broad.mit.edu	37	9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr9:4834198G>A	ENST00000381750.4	+	5	740	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	RCL1_ENST00000381730.1_5'Flank	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	173					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CTCATGTCCTGTGAGGAAGGT	0.463																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Gtg>Atg		RNA terminal phosphate cyclase-like 1							101.0	90.0	94.0					9																	4834198		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4834198G>A	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.517G>A	9.37:g.4834198G>A	ENSP00000371169:p.Val173Met						p.V173M	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	5	740	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	173					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.517G>A	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293712	0.40594	.	.	ENSG00000120158	ENST00000381750;ENST00000442869	.	.	.	6.02	3.23	0.37069	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.632035	0.15880	N	0.240086	T	0.51924	0.1703	M	0.64080	1.96	0.58432	D	0.999998	P	0.34699	0.464	B	0.33121	0.158	T	0.40346	-0.9568	9	0.33940	T	0.23	-8.9346	10.1612	0.42853	0.2634:0.0:0.7366:0.0	.	173	Q9Y2P8	RCL1_HUMAN	M	173;15	.	ENSP00000371169:V173M	V	+	1	0	RCL1	4824198	1.000000	0.71417	0.545000	0.28153	0.323000	0.28346	3.009000	0.49552	0.448000	0.26722	-0.157000	0.13467	GTG		0.463	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		17	18	0	0	0	1	0	17	18				
CSMD1	64478	broad.mit.edu	37	8	3141832	3141832	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:3141832G>A	ENST00000520002.1	-	27	4545	c.3990C>T	c.(3988-3990)caC>caT	p.H1330H	CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.H1329H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1330	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGATGTCGTGAGCCATCT	0.567											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3988-3990)caC>caT		CUB and Sushi multiple domains 1							85.0	89.0	88.0					8																	3141832		2121	4228	6349	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3141832G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3990C>T	8.37:g.3141832G>A			OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000537824.1_Silent_p.H1329H|CSMD1_ENST00000523387.1_5'UTR	p.H1330H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4545	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1330			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3990C>T		.	.	.	.	.	.	.	.	.	.	G	7.738	0.700659	0.15106	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.12	-7.09	0.01553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4752	0.75471	0.752:0.0:0.248:0.0	.	.	.	.	X	810	.	.	R	-	1	2	CSMD1	3129239	0.074000	0.21230	0.523000	0.27875	0.755000	0.42902	-0.405000	0.07196	-1.506000	0.01805	-1.332000	0.01269	CGA		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	29	0	0	0	1	0	3	29				
ZNF35	7584	broad.mit.edu	37	3	44700678	44700678	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:44700678C>A	ENST00000396056.2	+	4	1058	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	275					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACACTGGACAGAAACCTTA	0.423																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(823-825)Cag>Aag		zinc finger protein 35							58.0	57.0	58.0					3																	44700678		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700678C>A	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.823C>A	3.37:g.44700678C>A	ENSP00000379368:p.Gln275Lys					ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K	p.Q275K	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1058	+		Ovarian(412;0.0228)	275					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.823C>A	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757925	0.69648	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.16324	2.35;2.35	5.43	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000487	T	0.15435	0.0372	N	0.05510	-0.035	0.34795	D	0.736075	P	0.50819	0.939	P	0.56960	0.81	T	0.06917	-1.0800	10	0.72032	D	0.01	-24.5256	8.8494	0.35190	0.1382:0.5354:0.3264:0.0	.	275	P13682	ZNF35_HUMAN	K	275;115	ENSP00000379368:Q275K;ENSP00000443714:Q115K	ENSP00000379368:Q275K	Q	+	1	0	ZNF35	44675682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.875000	0.56108	2.824000	0.97209	0.655000	0.94253	CAG		0.423	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		4	60	1	0	0.000602214	1	0.000644035	4	60				
TULP2	7288	broad.mit.edu	37	19	49387100	49387100	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49387100C>T	ENST00000221399.3	-	11	1330	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	396					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TATCCTAAGACGTTGGGCTCC	0.517																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1186-1188)Gtc>Atc		tubby like protein 2							96.0	94.0	95.0					19																	49387100		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387100C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1186G>A	19.37:g.49387100C>T	ENSP00000221399:p.Val396Ile						p.V396I	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1330	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	396					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1186G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640520	0.14386	.	.	ENSG00000104804	ENST00000221399	D	0.97352	-4.35	4.91	-0.961	0.10337	Tubby, C-terminal (4);	0.197895	0.42682	N	0.000661	D	0.92054	0.7482	L	0.28776	0.89	0.32708	N	0.511951	B	0.22080	0.064	B	0.17098	0.017	D	0.86199	0.1617	10	0.42905	T	0.14	-19.3103	9.5057	0.39044	0.0:0.6221:0.0:0.3779	.	396	O00295	TULP2_HUMAN	I	396	ENSP00000221399:V396I	ENSP00000221399:V396I	V	-	1	0	TULP2	54078912	0.167000	0.22975	0.073000	0.20177	0.000000	0.00434	0.335000	0.19806	-0.113000	0.11958	-1.126000	0.01995	GTC		0.517	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		9	42	0	0	0	1	0	9	42				
ZMYM3	9203	broad.mit.edu	37	X	70465273	70465273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chrX:70465273G>A	ENST00000353904.2	-	18	3110	c.2923C>T	c.(2923-2925)Cga>Tga	p.R975*	ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.R963*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	975					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCATCTCGAGCAGGCCCA	0.532																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2887-2889)Cga>Tga		zinc finger, MYM-type 3							115.0	73.0	87.0					X																	70465273		2203	4300	6503	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465273G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2923C>T	X.37:g.70465273G>A	ENSP00000343909:p.Arg975*					ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977*	p.R963*	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			18	3584	-	Renal(35;0.156)		975					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.2887C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	46	12.301781	0.99655	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	.	.	.	5.53	2.53	0.30540	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-6.4608	14.9899	0.71377	0.0:0.0:0.5504:0.4495	.	.	.	.	X	975;963;975;977;977	.	ENSP00000322845:R975X	R	-	1	2	ZMYM3	70381998	0.452000	0.25713	0.996000	0.52242	0.998000	0.95712	0.545000	0.23268	0.654000	0.30846	0.597000	0.82753	CGA		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		10	9	0	0	0	1	0	10	9				
VWA3A	146177	broad.mit.edu	37	16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:22132353C>A	ENST00000389398.5	+	13	1277	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	394						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCATGACGCTCCTCTCACC	0.443																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1180-1182)gCt>gAt		von Willebrand factor A domain containing 3A							106.0	99.0	101.0					16																	22132353		1890	4113	6003	SO:0001583	missense	146177					extracellular region		g.chr16:22132353C>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1181C>A	16.37:g.22132353C>A	ENSP00000374049:p.Ala394Asp					VWA3A_ENST00000389397.4_5'UTR	p.A394D	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	13	1277	+			394					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1181C>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258500	0.23051	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.12255	2.7	5.48	-3.4	0.04853	.	0.776715	0.12088	N	0.500667	T	0.07593	0.0191	N	0.16478	0.41	0.09310	N	0.999994	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.33445	-0.9868	10	0.72032	D	0.01	.	9.2754	0.37696	0.3183:0.1786:0.5031:0.0	.	394;18	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	D	394;17	ENSP00000374049:A394D	ENSP00000299840:A17D	A	+	2	0	VWA3A	22039854	0.000000	0.05858	0.010000	0.14722	0.599000	0.36880	-0.011000	0.12721	-0.288000	0.09051	0.650000	0.86243	GCT		0.443	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	61	1	0	0.014758	1	0.0151515	5	61				
CIAPIN1	57019	broad.mit.edu	37	16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:57468061T>A	ENST00000569979.1	-	4	497	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGTTGTCACTTTCATGACCA	0.463																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(451-453)Agt>Tgt		cytokine induced apoptosis inhibitor 1							140.0	129.0	132.0					16																	57468061		1897	4123	6020	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57468061T>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.451A>T	16.37:g.57468061T>A	ENSP00000458000:p.Ser151Cys					CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C	p.S151C	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			5	692	-			151						Missense_Mutation	SNP	ENST00000569979.1	37	c.451A>T		.	.	.	.	.	.	.	.	.	.	T	12.33	1.904707	0.33628	.	.	ENSG00000005194	ENST00000394391	T	0.34667	1.35	5.28	4.19	0.49359	.	0.044322	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75264	2.295	0.31447	N	0.671263	D;D;D	0.71674	0.998;0.995;0.989	P;P;B	0.59825	0.864;0.718;0.445	T	0.60058	-0.7337	10	0.62326	D	0.03	-6.1219	6.4663	0.21983	0.0:0.2676:0.0:0.7324	.	151;138;151	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	C	151	ENSP00000377914:S151C	ENSP00000377914:S151C	S	-	1	0	CIAPIN1	56025562	1.000000	0.71417	0.131000	0.22000	0.025000	0.11179	4.454000	0.60068	0.965000	0.38133	0.460000	0.39030	AGT		0.463	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		16	96	0	0	0	1	0	16	96				
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(769-771)cCc>cTc		lysine (K)-specific demethylase 4E							26.0	26.0	26.0					11																	94759491		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759491C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.770C>T	11.37:g.94759491C>T	ENSP00000397239:p.Pro257Leu						p.P257L	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	1070	+			257			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.770C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.025958	0.35701	.	.	ENSG00000235268	ENST00000450979	T	0.74209	-0.82	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.87014	0.6072	M	0.91300	3.195	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88446	0.3045	9	0.87932	D	0	-21.1033	10.4356	0.44433	0.0:1.0:0.0:0.0	.	257	B2RXH2	KD4DL_HUMAN	L	257	ENSP00000397239:P257L	ENSP00000397239:P257L	P	+	2	0	KDM4DL	94399139	1.000000	0.71417	0.414000	0.26521	0.040000	0.13550	3.053000	0.49901	1.543000	0.49345	0.455000	0.32223	CCC		0.547	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		10	30	0	0	0	1	0	10	30				
SUGP1	57794	broad.mit.edu	37	19	19431287	19431287	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:19431287T>A	ENST00000247001.5	-	1	366	c.19A>T	c.(19-21)Aac>Tac	p.N7Y	SUGP1_ENST00000585763.1_5'UTR|MAU2_ENST00000392313.6_5'Flank|MAU2_ENST00000262815.8_5'Flank|SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	7					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACATCCCGGTTGTCCATCTTG	0.632																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(19-21)Aac>Tac		SURP and G patch domain containing 1							91.0	95.0	94.0					19																	19431287		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19431287T>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.19A>T	19.37:g.19431287T>A	ENSP00000247001:p.Asn7Tyr					SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	p.N7Y	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			1	366	-			7					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.19A>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457164	0.84317	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.23147	1.92	5.41	5.41	0.78517	.	0.492664	0.19450	N	0.113959	T	0.26557	0.0649	L	0.51422	1.61	0.36371	D	0.861295	P	0.47350	0.894	B	0.41723	0.365	T	0.35126	-0.9801	10	0.72032	D	0.01	.	11.8269	0.52271	0.0:0.0:0.0:1.0	.	7	Q8IWZ8	SUGP1_HUMAN	Y	7	ENSP00000247001:N7Y	ENSP00000247001:N7Y	N	-	1	0	SUGP1	19292287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.059000	0.61396	0.459000	0.35465	AAC		0.632	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		28	81	0	0	0	1	0	28	81				
BCAT2	587	broad.mit.edu	37	19	49299745	49299745	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49299745G>A	ENST00000316273.6	-	10	1092	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000402551.1_Silent_p.P320P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000545387.2_Silent_p.P268P	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTTCCATGGTGGGAATGTGGA	0.607																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(958-960)ccC>ccT		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						126.0	109.0	115.0					19																	49299745		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299745G>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1080C>T	19.37:g.49299745G>A						BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000597011.1_Silent_p.P320P	p.P320P			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	11	1580	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	360					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.960C>T	CCDS12735.1																																																																																				0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			33	78	0	0	0	1	0	33	78				
NACA	4666	broad.mit.edu	37	12	57111547	57111547	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:57111547G>C	ENST00000454682.1	-	3	4048	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1256	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGTGGGGTAGCTGGGCCTCC	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3766-3768)gCt>gGt		nascent polypeptide-associated complex alpha subunit							43.0	64.0	58.0					12																	57111547		1209	2832	4041	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111547G>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3767C>G	12.37:g.57111547G>C	ENSP00000403817:p.Ala1256Gly					NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	p.A1256G	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4048	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3767C>G		.	.	.	.	.	.	.	.	.	.	G	9.788	1.177153	0.21787	.	.	ENSG00000196531	ENST00000454682	T	0.52754	0.65	4.25	2.31	0.28768	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.09310	N	0.999992	B	0.24483	0.104	B	0.22152	0.038	T	0.20438	-1.0275	7	.	.	.	.	8.0227	0.30419	0.0:0.1674:0.6459:0.1867	.	1256	E9PAV3	.	G	1256	ENSP00000403817:A1256G	.	A	-	2	0	NACA	55397814	0.024000	0.19004	0.007000	0.13788	0.019000	0.09904	0.560000	0.23500	0.209000	0.20645	0.298000	0.19748	GCT		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	78	0	0	0	1	0	5	78				
IFT172	26160	broad.mit.edu	37	2	27677277	27677277	+	Silent	SNP	G	G	A	rs534566990		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:27677277G>A	ENST00000260570.3	-	32	3577	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1158					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTTCGAATTTACCCT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19703	0.0		0.0	False		,,,				2504	0.001					ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3472-3474)ttC>ttT		intraflagellar transport 172 homolog (Chlamydomonas)							116.0	115.0	115.0					2																	27677277		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27677277G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3474C>T	2.37:g.27677277G>A							p.F1158F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			32	3577	-	Acute lymphoblastic leukemia(172;0.155)		1158					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.3474C>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	7.759	0.704944	0.15172	.	.	ENSG00000138002	ENST00000443889	.	.	.	5.6	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1812	9.8011	0.40764	0.9165:0.0:0.0835:0.0	.	.	.	.	X	27	.	.	R	-	1	2	IFT172	27530781	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	0.929000	0.28844	0.965000	0.38133	-0.379000	0.06801	CGA		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		24	67	0	0	0	1	0	24	67				
PCDHB15	56121	broad.mit.edu	37	5	140627360	140627360	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	738					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.602																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2212-2214)gaC>gaT									103.0	117.0	112.0					5																	140627360		2203	4297	6500	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627360C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2214C>T	5.37:g.140627360C>T							p.D738D	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2214	+			738					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2214C>T	CCDS4257.1																																																																																				0.602	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		5	180	0	0	0	1	0	5	180				
SHANK2	22941	broad.mit.edu	37	11	70319509	70319509	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:70319509C>T	ENST00000423696.2	-	16	3914	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	SHANK2_ENST00000338508.4_Missense_Mutation_p.R1673Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1293					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTCGTGCTCCGTGTACCTGA	0.597																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5017-5019)cGg>cAg		SH3 and multiple ankyrin repeat domains 2							61.0	60.0	60.0					11																	70319509		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319509C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3878G>A	11.37:g.70319509C>T	ENSP00000394536:p.Arg1293Gln					SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1293Q	p.R1673Q			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5017	-			1293					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5018G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.929751	0.92389	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	2.13;2.13;2.86;0.82;2.26;2.26	5.91	5.91	0.95273	.	0.381500	0.29486	N	0.012014	T	0.39860	0.1094	L	0.44542	1.39	0.80722	D	1	P;P;P	0.49358	0.792;0.923;0.74	B;B;B	0.32342	0.098;0.144;0.129	T	0.45673	-0.9245	10	0.54805	T	0.06	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	1293;1672;1077	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	1077;1076;951;1673;1293;1311;1296	ENSP00000399423:R1077Q;ENSP00000386491:R1076Q;ENSP00000402944:R951Q;ENSP00000345193:R1673Q;ENSP00000394536:R1293Q;ENSP00000294018:R1296Q	ENSP00000294018:R1296Q	R	-	2	0	SHANK2	69997157	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.445000	0.52921	2.799000	0.96334	0.650000	0.86243	CGG		0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		11	50	0	0	0	1	0	11	50				
RALYL	138046	broad.mit.edu	37	8	85441793	85441793	+	Silent	SNP	C	C	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGCCAGAGTCATCGCCGGCC	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(235-237)gtC>gtG		RALY RNA binding protein-like							50.0	53.0	52.0					8																	85441793		2051	4205	6256	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441793C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.237C>G	8.37:g.85441793C>G						RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V	p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			2	1342	+			79			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.237C>G	CCDS55253.1																																																																																				0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			3	39	0	0	0	1	0	3	39				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		7	189	0	0	0	1	0	7	189				
CFAP20	29105	broad.mit.edu	37	16	58149203	58149203	+	Silent	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58149203G>C	ENST00000262498.3	-	4	769	c.435C>G	c.(433-435)ggC>ggG	p.G145G	C16orf80_ENST00000562443.1_5'UTR|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTAATTGGTGCCGTATGCTC	0.552																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(433-435)ggC>ggG		chromosome 16 open reading frame 80							241.0	199.0	213.0					16																	58149203		2198	4300	6498	SO:0001819	synonymous_variant	29105				multicellular organismal development			g.chr16:58149203G>C																												ENST00000262498.3:c.435C>G	16.37:g.58149203G>C						C16orf80_ENST00000562443.1_5'UTR	p.G145G	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	769	-			145						Silent	SNP	ENST00000262498.3	37	c.435C>G	CCDS10793.1																																																																																				0.552	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			54	91	0	0	0	1	0	54	91				
NBEAP1	606	broad.mit.edu	37	15	20876556	20876556	+	RNA	SNP	A	A	T	rs58887402		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:20876556A>T	ENST00000556948.1	-	0	44							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		CAAAAGATAAAAATTGCTCCA	0.318																																						ENST00000556948.1																			0																																																			0							g.chr15:20876556A>T			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876556A>T														0	44	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.318	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		8	60	0	0	0	1	0	8	60				
PTGFRN	5738	broad.mit.edu	37	1	117484587	117484587	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:117484587C>T	ENST00000393203.2	+	2	447	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	100	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGCCAACGACGCCGTGGAGC	0.587																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(298-300)gaC>gaT		prostaglandin F2 receptor inhibitor							93.0	85.0	88.0					1																	117484587		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484587C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.300C>T	1.37:g.117484587C>T							p.D100D	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	447	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	100			Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.300C>T	CCDS890.1																																																																																				0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		9	45	0	0	0	1	0	9	45				
TCF12	6938	broad.mit.edu	37	15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	562					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTACTAATGAAGATGAGGA	0.388			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1684-1686)Gaa>Aaa		transcription factor 12							64.0	70.0	68.0					15																	57565238		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565238G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1684G>A	15.37:g.57565238G>A	ENSP00000267811:p.Glu562Lys					TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K	p.E562K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	1988	+		Colorectal(260;0.0907)	562					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1684G>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139172	0.94560	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.24151	2.46;2.45;2.45;2.45;2.19;1.87;2.21	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.69463	2.115	0.80722	D	1	P;P;D;D;D;D;D;D;P;D	0.76494	0.863;0.956;0.998;0.97;0.988;0.999;0.999;0.978;0.956;0.996	P;D;D;P;P;D;D;P;P;D	0.81914	0.449;0.931;0.987;0.777;0.777;0.995;0.994;0.644;0.899;0.981	T	0.46541	-0.9184	10	0.39692	T	0.17	-23.7516	18.0066	0.89211	0.0:0.0:1.0:0.0	.	582;196;416;326;582;614;416;392;562;586	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	K	614;562;586;582;586;416;326;392;174	ENSP00000267811:E562K;ENSP00000388940:E586K;ENSP00000396881:E582K;ENSP00000331057:E586K;ENSP00000440017:E416K;ENSP00000444696:E326K;ENSP00000342459:E392K	ENSP00000267811:E562K	E	+	1	0	TCF12	55352530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.683000	0.98657	2.324000	0.78689	0.650000	0.86243	GAA		0.388	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		8	18	0	0	0	1	0	8	18				
APLF	200558	broad.mit.edu	37	2	68765198	68765198	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:68765198C>T	ENST00000303795.4	+	7	1170	c.999C>T	c.(997-999)ggC>ggT	p.G333G	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	333					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GTGCCCAGGGCGACTCACTTC	0.423																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(997-999)ggC>ggT		aprataxin and PNKP like factor							92.0	86.0	88.0					2																	68765198		2203	4300	6503	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68765198C>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.999C>T	2.37:g.68765198C>T						APLF_ENST00000471727.1_3'UTR	p.G333G	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			7	1170	+			333					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.999C>T	CCDS1888.1																																																																																				0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		6	54	0	0	0	1	0	6	54				
CENPJ	55835	broad.mit.edu	37	13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T	rs200583239		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3001-3003)Cag>Aag		centromere protein J							105.0	101.0	103.0					13																	25466996		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466996G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3001C>A	13.37:g.25466996G>T	ENSP00000371308:p.Gln1001Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3186	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1001					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3001C>A	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946412|2.946412	0.53079|0.53079	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.37235|.	1.21;1.75|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.176589|.	0.51477|.	D|.	0.000086|.	T|T	0.68229|0.68229	0.2978|0.2978	L|L	0.45581|0.45581	1.43|1.43	0.52501|0.52501	D|D	0.999954|0.999954	B;B|.	0.13594|.	0.008;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.64385|0.64385	-0.6420|-0.6420	10|5	0.19590|.	T|.	0.45|.	.|.	17.9193|17.9193	0.88961|0.88961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82;1001|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	K|K	1001|82	ENSP00000371308:Q1001K;ENSP00000441090:Q1001K|.	ENSP00000371308:Q1001K|.	Q|T	-|-	1|2	0|0	CENPJ|CENPJ	24364996|24364996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.874000|5.874000	0.69652|0.69652	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	CAG|ACA		0.333	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	56	1	0	0.248553	1	0.248553	7	56				
CPXM2	119587	broad.mit.edu	37	10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2257-2259)Cga>Tga		carboxypeptidase X (M14 family), member 2							52.0	55.0	54.0					10																	125506294		2203	4300	6503	SO:0001587	stop_gained	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506294G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2257C>T	10.37:g.125506294G>A	ENSP00000241305:p.Arg753*					CPXM2_ENST00000368854.3_Intron	p.R753*	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2411	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	753					B4E3Q2	Nonsense_Mutation	SNP	ENST00000241305.3	37	c.2257C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	CPXM2	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	73	0	0	0	1	0	7	73				
KSR1	8844	broad.mit.edu	37	17	25950427	25950427	+	3'UTR	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:25950427A>G	ENST00000319524.6	+	0	2781				KSR1_ENST00000578981.1_Missense_Mutation_p.Y50C|RP11-19P22.8_ENST00000577746.1_RNA|KSR1_ENST00000582410.1_3'UTR|KSR1_ENST00000398988.3_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGCCAGCCATATGGTTTTTCG	0.463																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000578981.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(148-150)tAt>tGt		kinase suppressor of ras 1							27.0	25.0	25.0					17																	25950427		876	1991	2867	SO:0001624	3_prime_UTR_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25950427A>G	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.*9A>G	17.37:g.25950427A>G						KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR|KSR1_ENST00000319524.6_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C	p.Y50C			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	2	327	+	Lung NSC(42;0.00836)		0					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.149A>G																																																																																					0.463	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		5	16	0	0	0	1	0	5	16				
RNASE7	84659	broad.mit.edu	37	14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:21511516A>G	ENST00000298690.4	+	2	622	c.365A>G	c.(364-366)aAa>aGa	p.K122R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	122					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAGGTACAAAGAGAAGCGA	0.532																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(364-366)aAa>aGa		ribonuclease, RNase A family, 7							133.0	128.0	130.0					14																	21511516		2203	4300	6503	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511516A>G	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.365A>G	14.37:g.21511516A>G	ENSP00000298690:p.Lys122Arg					NDRG2_ENST00000403829.3_Intron	p.K122R	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	622	+	all_cancers(95;0.000759)		122					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.365A>G	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412776	0.25465	.	.	ENSG00000165799	ENST00000298690	T	0.73047	-0.71	4.64	2.14	0.27477	Ribonuclease A, domain (4);	0.837778	0.10181	U	0.705816	T	0.61924	0.2386	N	0.20530	0.585	0.09310	N	1	B	0.31910	0.346	P	0.46320	0.512	T	0.56220	-0.8015	10	0.27082	T	0.32	-5.5454	4.6653	0.12662	0.7031:0.1941:0.1028:0.0	.	122	Q9H1E1	RNAS7_HUMAN	R	122	ENSP00000298690:K122R	ENSP00000298690:K122R	K	+	2	0	RNASE7	20581356	0.885000	0.30320	0.730000	0.30809	0.614000	0.37383	0.468000	0.22051	0.772000	0.33382	0.533000	0.62120	AAA		0.532	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		15	134	0	0	0	1	0	15	134				
TFAP4	7023	broad.mit.edu	37	16	4310115	4310115	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:4310115C>T	ENST00000204517.6	-	6	1126	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	266					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCAGATTTTGCCGGGATGTGG	0.582																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(796-798)cgG>cgA		transcription factor AP-4 (activating enhancer binding protein 4)							120.0	111.0	114.0					16																	4310115		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310115C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.798G>A	16.37:g.4310115C>T							p.R266R	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			6	1126	-			266					O60409	Silent	SNP	ENST00000204517.6	37	c.798G>A	CCDS10510.1																																																																																				0.582	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		4	95	0	0	0	1	0	4	95				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	40	0	0	0	1	0	4	40				
SF3A1	10291	broad.mit.edu	37	22	30735202	30735202	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr22:30735202G>A	ENST00000215793.8	-	10	1568	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SF3A1_ENST00000439242.1_Missense_Mutation_p.R407W	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	472					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGTACGCCGCTCAGCCAAC	0.483																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1219-1221)Cgg>Tgg		splicing factor 3a, subunit 1, 120kDa							184.0	158.0	166.0					22																	30735202		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30735202G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1414C>T	22.37:g.30735202G>A	ENSP00000215793:p.Arg472Trp					SF3A1_ENST00000215793.7_Missense_Mutation_p.R472W	p.R407W	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			10	1350	-			472					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1219C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518522	0.64634	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.34472	1.36;1.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.70494	-0.4856	10	0.87932	D	0	-22.8982	20.3248	0.98698	0.0:0.0:1.0:0.0	.	472	Q15459	SF3A1_HUMAN	W	407;472;369	ENSP00000390336:R407W;ENSP00000215793:R472W	ENSP00000215793:R472W	R	-	1	2	SF3A1	29065202	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.248000	0.78268	2.818000	0.97014	0.655000	0.94253	CGG		0.483	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		67	91	0	0	0	1	0	67	91				
PAN2	9924	broad.mit.edu	37	12	56722258	56722258	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCACTTACAGGTAATCAAATA	0.502																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(448-450)taC>taT		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							97.0	100.0	99.0					12																	56722258		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722258G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.450C>T	12.37:g.56722258G>A						PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y	p.Y150Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			3	826	-			150						Silent	SNP	ENST00000425394.2	37	c.450C>T	CCDS44922.1																																																																																				0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	155	0	0	0	1	0	4	155				
MYH10	4628	broad.mit.edu	37	17	8526221	8526221	+	Splice_Site	SNP	T	T	G	rs367804571		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:8526221T>G	ENST00000269243.4	-	2	482	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	MYH10_ENST00000360416.3_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	115	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATACTTACATAGATTAGTCC	0.348																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.e2+1		myosin, heavy chain 10, non-muscle							89.0	83.0	85.0					17																	8526221		2203	4300	6503	SO:0001630	splice_region_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526221T>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.345+1A>C	17.37:g.8526221T>G						MYH10_ENST00000379980.4_Splice_Site_p.Y115_splice|MYH10_ENST00000269243.4_Splice_Site_p.Y115_splice|MYH10_ENST00000396239.1_Splice_Site_p.Y115_splice	p.Y115_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	482	-			115			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Splice_Site	SNP	ENST00000269243.4	37	c.345_splice	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187472	0.78789	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.98362	-1.95;-1.95;-4.89;-1.95;-1.95	4.78	4.78	0.61160	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99487	4.59	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.91635	0.999;0.97;0.999	D	0.97892	1.0298	10	0.87932	D	0	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	115;115;115	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	S	115	ENSP00000269243:Y115S;ENSP00000353590:Y115S;ENSP00000379539:Y115S;ENSP00000369315:Y115S;ENSP00000408220:Y115S	ENSP00000269243:Y115S	Y	-	2	0	MYH10	8466946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TAT		0.348	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		Missense_Mutation	12	24	0	0	0	1	0	12	24				
DHTKD1	55526	broad.mit.edu	37	10	12129647	12129647	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:12129647C>T	ENST00000263035.4	+	4	698	c.636C>T	c.(634-636)agC>agT	p.S212S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	212					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGGCCTACAGCGGGATCACTG	0.517																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(634-636)agC>agT		dehydrogenase E1 and transketolase domain containing 1							141.0	118.0	126.0					10																	12129647		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12129647C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.636C>T	10.37:g.12129647C>T						DHTKD1_ENST00000465617.1_3'UTR	p.S212S	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		4	698	+		Renal(717;0.228)	212					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.636C>T	CCDS7087.1																																																																																				0.517	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		16	27	0	0	0	1	0	16	27				
COL6A6	131873	broad.mit.edu	37	3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:130289977G>A	ENST00000358511.6	+	6	2748	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	906	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGGGCAGCCGCCTGAACAAG	0.547																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2716-2718)cGc>cAc		collagen, type VI, alpha 6							39.0	41.0	40.0					3																	130289977		1884	4098	5982	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289977G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2717G>A	3.37:g.130289977G>A	ENSP00000351310:p.Arg906His					COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			6	2748	+			906			Nonhelical region.|VWFA 5.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2717G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928298	0.92389	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88046	-2.33;-2.33	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.95487	0.8534	H	0.94925	3.6	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.96746	0.9550	10	0.87932	D	0	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	906	A6NMZ7	CO6A6_HUMAN	H	906	ENSP00000351310:R906H;ENSP00000399236:R906H	ENSP00000351310:R906H	R	+	2	0	COL6A6	131772667	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.436000	0.97532	2.460000	0.83146	0.561000	0.74099	CGC		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		5	18	0	0	0	1	0	5	18				
MUC16	94025	broad.mit.edu	37	19	9064272	9064272	+	Missense_Mutation	SNP	G	G	A	rs566528880		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:9064272G>A	ENST00000397910.4	-	3	23377	c.23174C>T	c.(23173-23175)cCg>cTg	p.P7725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7727	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCGCCGGGCCAGAGGT	0.517													g|||	1	0.000199681	0.0	0.0	5008	,	,		20093	0.0		0.0	False		,,,				2504	0.001					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23173-23175)cCg>cTg		mucin 16, cell surface associated							117.0	112.0	113.0					19																	9064272		2004	4163	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064272G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23174C>T	19.37:g.9064272G>A	ENSP00000381008:p.Pro7725Leu						p.P7725L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23377	-			7727			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23174C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.246	-0.620072	0.03636	.	.	ENSG00000181143	ENST00000397910	T	0.19938	2.11	1.43	-1.03	0.10102	.	.	.	.	.	T	0.10423	0.0255	N	0.11560	0.145	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	8	0.87932	D	0	.	7.0978	0.25319	0.6047:0.0:0.3953:0.0	.	7725	B5ME49	.	L	7725	ENSP00000381008:P7725L	ENSP00000381008:P7725L	P	-	2	0	MUC16	8925272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.027000	0.01433	-1.742000	0.01342	-2.597000	0.00163	CCG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	63	0	0	0	1	0	4	63				
CYP4F22	126410	broad.mit.edu	37	19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15662136G>T	ENST00000269703.3	+	14	1649	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	484						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCATGGCCGAGTTGCGCGT	0.637																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1450-1452)Gag>Tag		cytochrome P450, family 4, subfamily F, polypeptide 22							53.0	39.0	43.0					19																	15662136		2203	4300	6503	SO:0001587	stop_gained	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662136G>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1450G>T	19.37:g.15662136G>T	ENSP00000269703:p.Glu484*					CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			14	1649	+			484					Q8N8H4	Nonsense_Mutation	SNP	ENST00000269703.3	37	c.1450G>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721429	0.96839	.	.	ENSG00000171954	ENST00000269703	.	.	.	4.6	4.6	0.57074	.	0.053133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.245	0.73499	0.0:0.0:1.0:0.0	.	.	.	.	X	484	.	ENSP00000269703:E484X	E	+	1	0	CYP4F22	15523136	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	6.534000	0.73833	2.247000	0.74100	0.455000	0.32223	GAG		0.637	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		14	15	1	0	1.3612e-06	1	1.49732e-06	14	15				
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378																																						ENST00000557922.1																			0																																																			0							g.chr15:23108883T>C																													15.37:g.23108883T>C								NR_040057.1						0	246	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.378	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			4	33	0	0	0	1	0	4	33				
OIP5	11339	broad.mit.edu	37	15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000450592.2_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	44					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCCTTCACCACCTGCGTA	0.672																																						ENST00000220514.3																			0				endometrium(3)|lung(1)|urinary_tract(1)	5						c.(130-132)Gtg>Atg		Opa interacting protein 5							61.0	73.0	69.0					15																	41624630		2203	4298	6501	SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624630C>T	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.130G>A	15.37:g.41624630C>T	ENSP00000220514:p.Val44Met						p.V44M	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	189	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	44					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.130G>A	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312274	0.60414	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.49	4.58	0.56647	.	0.335009	0.25194	N	0.032431	T	0.55273	0.1910	M	0.68317	2.08	0.30649	N	0.755662	D	0.56035	0.974	P	0.51135	0.66	T	0.63413	-0.6643	9	0.72032	D	0.01	-29.3754	11.5584	0.50761	0.0:0.9172:0.0:0.0828	.	44	O43482	MS18B_HUMAN	M	44	.	ENSP00000220514:V44M	V	-	1	0	OIP5	39411922	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.626000	0.46460	1.569000	0.49696	0.655000	0.94253	GTG		0.672	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		5	142	0	0	0	1	0	5	142				
EPRS	2058	broad.mit.edu	37	1	220170573	220170573	+	Missense_Mutation	SNP	G	G	A	rs200004369		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:220170573G>A	ENST00000366923.3	-	18	2562	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	765	3 X 57 AA approximate repeats.|WHEP-TRS 1.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTTAATTCACGAACCACATCT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		15125	0.001		0.0	False		,,,				2504	0.0					ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(2293-2295)Cgt>Tgt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						96.0	95.0	96.0					1																	220170573		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220170573G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2293C>T	1.37:g.220170573G>A	ENSP00000355890:p.Arg765Cys					EPRS_ENST00000464052.1_5'UTR	p.R765C	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	18	2562	-			765			3 X 57 AA approximate repeats.|WHEP-TRS 1.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2293C>T	CCDS31027.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.11	3.029302	0.54790	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.76186	-1.0	5.62	4.66	0.58398	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	H	0.95850	3.73	0.80722	D	1	B;P;P	0.52842	0.443;0.691;0.956	B;B;P	0.51516	0.147;0.284;0.672	D	0.87174	0.2223	10	0.62326	D	0.03	-17.0859	7.7628	0.28961	0.0747:0.0:0.6443:0.2811	.	789;772;765	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	C	765;772;789	ENSP00000355890:R765C	ENSP00000355890:R765C	R	-	1	0	EPRS	218237196	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	3.483000	0.53194	2.660000	0.90430	0.655000	0.94253	CGT		0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		31	55	0	0	0	1	0	31	55				
TENM4	26011	broad.mit.edu	37	11	78381219	78381219	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:78381219G>A	ENST00000278550.7	-	32	6633	c.6171C>T	c.(6169-6171)taC>taT	p.Y2057Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2057					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAATCTGACGGTAGCGGATGG	0.532																																						ENST00000278550.7																			0											c.(6169-6171)taC>taT		teneurin transmembrane protein 4							67.0	79.0	75.0					11																	78381219		2105	4206	6311	SO:0001819	synonymous_variant	26011							g.chr11:78381219G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6171C>T	11.37:g.78381219G>A							p.Y2057Y	NM_001098816.2	NP_001092286.2					32	6633	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.6171C>T	CCDS44688.1																																																																																				0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			3	32	0	0	0	1	0	3	32				
TMEM63C	57156	broad.mit.edu	37	14	77718143	77718143	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:77718143G>A	ENST00000298351.4	+	22	2194	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	684					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTCTCCACGCCATCACCAT	0.567																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(2050-2052)Gcc>Acc		transmembrane protein 63C							117.0	120.0	119.0					14																	77718143		2106	4220	6326	SO:0001583	missense	57156					integral to membrane		g.chr14:77718143G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2050G>A	14.37:g.77718143G>A	ENSP00000298351:p.Ala684Thr						p.A684T	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	22	2194	+			684					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.2050G>A	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147599	0.37923	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.19532	2.14	5.38	-3.32	0.04973	.	0.749963	0.13892	N	0.355556	T	0.08758	0.0217	N	0.16478	0.41	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.40553	-0.9557	10	0.10111	T	0.7	-1.4259	7.6199	0.28179	0.3539:0.3792:0.2669:0.0	.	684	Q9P1W3	TM63C_HUMAN	T	684;254	ENSP00000298351:A684T	ENSP00000298351:A684T	A	+	1	0	TMEM63C	76787896	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.137000	0.15995	-0.495000	0.06659	-1.195000	0.01675	GCC		0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			29	90	0	0	0	1	0	29	90				
CYP4F12	66002	broad.mit.edu	37	19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15794476G>A	ENST00000550308.1	+	7	1201	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	274					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATCCGGGAGCGGCGTCGCACC	0.537																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(820-822)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 12							98.0	98.0	98.0					19																	15794476		2200	4298	6498	SO:0001583	missense	66002							g.chr19:15794476G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.821G>A	19.37:g.15794476G>A	ENSP00000448998:p.Arg274Gln					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R274Q	p.R274Q	NM_023944.3	NP_076433.3					7	1201	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.821G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593051	0.46214	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.81908	-1.55;-1.55	2.47	0.271	0.15640	.	0.100952	0.38778	U	0.001575	D	0.85435	0.5696	M	0.86502	2.82	0.37703	D	0.924304	D	0.56035	0.974	P	0.50659	0.647	D	0.84572	0.0656	10	0.87932	D	0	.	6.4621	0.21962	0.2735:0.0:0.7265:0.0	.	274	Q9HCS2	CP4FC_HUMAN	Q	274	ENSP00000448998:R274Q;ENSP00000321821:R274Q	ENSP00000321821:R274Q	R	+	2	0	CYP4F12	15655476	0.998000	0.40836	0.726000	0.30738	0.403000	0.30841	4.975000	0.63777	0.141000	0.18875	0.491000	0.48974	CGG		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			33	99	0	0	0	1	0	33	99				
DNAH17	8632	broad.mit.edu	37	17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:76496390G>T	ENST00000585328.1	-	36	5746	c.5622C>A	c.(5620-5622)taC>taA	p.Y1874*	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Y1865*|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1865	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCGTACCTTGTAGTCCATCT	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5593-5595)taC>taA		dynein, axonemal, heavy chain 17							20.0	24.0	23.0					17																	76496390		1997	4192	6189	SO:0001587	stop_gained	8632							g.chr17:76496390G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5622C>A	17.37:g.76496390G>T	ENSP00000465516:p.Tyr1874*					DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*	p.Y1865*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		36	5719	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.5595C>A		.	.	.	.	.	.	.	.	.	.	G	46	12.779927	0.99696	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	3.86	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6936	0.23187	0.4146:0.0:0.5854:0.0	.	.	.	.	X	1874;1865	.	ENSP00000300671:Y1874X	Y	-	3	2	DNAH17	74007985	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.826000	0.39092	0.972000	0.38314	0.448000	0.29417	TAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	19	1	0	0.00909568	1	0.00946442	4	19				
MUC5B	727897	broad.mit.edu	37	11	1258365	1258365	+	Missense_Mutation	SNP	G	G	A	rs376966273		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:1258365G>A	ENST00000529681.1	+	25	3326	c.3268G>A	c.(3268-3270)Ggc>Agc	p.G1090S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G1093S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1090	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCCTCCACGGCCCCACCTT	0.697																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(3277-3279)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming		G	SER/GLY	23,3951		0,23,1964	29.0	39.0	36.0		3268	0.4	0.2	11		36	0,8308		0,0,4154	no	missense	MUC5B	NM_002458.2	56	0,23,6118	AA,AG,GG		0.0,0.5788,0.1873	benign	1090/5763	1258365	23,12259	1987	4154	6141	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1258365G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3268G>A	11.37:g.1258365G>A	ENSP00000436812:p.Gly1090Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.G1090S	p.G1093S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	25	3335	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1090			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3277G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981928	0.18812	0.005788	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.74737	-0.87;-0.87	4.38	0.436	0.16549	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.34600	0.0903	N	0.01656	-0.775	0.27313	N	0.957262	B;B;B	0.33528	0.041;0.416;0.416	B;B;B	0.26969	0.009;0.075;0.021	T	0.32455	-0.9906	9	0.87932	D	0	.	8.0312	0.30465	0.5936:0.0:0.4064:0.0	.	1090;1783;1093	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	1090;1093;1091;1160	ENSP00000436812:G1090S;ENSP00000415793:G1093S	ENSP00000343037:G1091S	G	+	1	0	MUC5B	1214941	0.235000	0.23794	0.237000	0.24090	0.114000	0.19823	1.077000	0.30741	-0.233000	0.09797	0.462000	0.41574	GGC		0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	28	0	0	0	1	0	4	28				
KLK13	26085	broad.mit.edu	37	19	51563757	51563757	+	Missense_Mutation	SNP	G	G	A	rs200725984		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:51563757G>A	ENST00000595793.1	-	2	214	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W|KLK13_ENST00000595547.1_Missense_Mutation_p.R58W	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAGAGTAGCCGCCCTTGCACT	0.617																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(172-174)Cgg>Tgg		kallikrein-related peptidase 13		G	TRP/ARG	0,4406		0,0,2203	74.0	76.0	75.0		172	3.9	1.0	19		75	1,8599		0,1,4299	no	missense	KLK13	NM_015596.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	58/278	51563757	1,13005	2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563757G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.172C>T	19.37:g.51563757G>A	ENSP00000470555:p.Arg58Trp					KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Missense_Mutation_p.R58W|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W	p.R58W	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	214	-		all_neural(266;0.026)	58			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.172C>T	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.29|18.29	3.592015|3.592015	0.66219|0.66219	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167759|ENSG00000167759	ENST00000376799|ENST00000156476	.|D	.|0.89196	.|-2.48	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.342128	.|0.21374	.|N	.|0.075582	D|D	0.91016|0.91016	0.7174|0.7174	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|P;P;P	.|0.58928	.|0.848;0.828;0.749	D|D	0.89858|0.89858	0.4014|0.4014	6|10	0.87932|0.46703	D|T	0|0.11	.|.	7.5387|7.5387	0.27725|0.27725	0.1192:0.0:0.8808:0.0|0.1192:0.0:0.8808:0.0	.|.	.|58;58;58	.|Q86VI7;B5BUM9;Q9UKR3	.|.;.;KLK13_HUMAN	V|W	59|58	.|ENSP00000156476:R58W	ENSP00000365995:A59V|ENSP00000156476:R58W	A|R	-|-	2|1	0|2	KLK13|KLK13	56255569|56255569	0.002000|0.002000	0.14202|0.14202	0.992000|0.992000	0.48379|0.48379	0.980000|0.980000	0.70556|0.70556	1.202000|1.202000	0.32271|0.32271	2.166000|2.166000	0.68216|0.68216	0.609000|0.609000	0.83330|0.83330	GCG|CGG		0.617	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		25	80	0	0	0	1	0	25	80				
ACAA2	10449	broad.mit.edu	37	18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr18:47311571A>C	ENST00000285093.10	-	9	1580	c.1105T>G	c.(1105-1107)Tta>Gta	p.L369V	ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V|ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	369					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAATACCTTAATTCGTGAACC	0.398																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(1105-1107)Tta>Gta		acetyl-CoA acyltransferase 2							91.0	82.0	85.0					18																	47311571		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47311571A>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1105T>G	18.37:g.47311571A>C	ENSP00000285093:p.Leu369Val					ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V|ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V	p.L369V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			9	1580	-			369					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.1105T>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341577	0.61073	.	.	ENSG00000167315	ENST00000285093	D	0.89810	-2.57	5.6	3.25	0.37280	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.96805	3.885	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.74674	0.897;0.984	D	0.93965	0.7244	10	0.87932	D	0	.	8.0726	0.30697	0.7064:0.0:0.2936:0.0	.	369;369	B2RB23;P42765	.;THIM_HUMAN	V	369	ENSP00000285093:L369V	ENSP00000285093:L369V	L	-	1	2	ACAA2	45565569	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	3.340000	0.52143	0.431000	0.26258	-0.250000	0.11733	TTA		0.398	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		4	65	0	0	0	1	0	4	65				
HSF4	3299	broad.mit.edu	37	16	67199716	67199716	+	Silent	SNP	C	C	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:67199716C>G	ENST00000521374.1	+	3	327	c.327C>G	c.(325-327)ggC>ggG	p.G109G	HSF4_ENST00000421453.1_Silent_p.G109G|HSF4_ENST00000264009.8_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	109					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G109G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCGTGCGCGGCCGCGAGCAGC	0.692																																						ENST00000264009.8																			1	Substitution - coding silent(1)	p.G109G(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(325-327)ggC>ggG		heat shock transcription factor 4							9.0	13.0	12.0					16																	67199716		1905	4026	5931	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199716C>G	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.327C>G	16.37:g.67199716C>G						HSF4_ENST00000521374.1_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.G109G	p.G109G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1292	+		Ovarian(137;0.0563)	109					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.327C>G	CCDS42175.1																																																																																				0.692	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		6	40	0	0	0	1	0	6	40				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	33	0	0	0	1	0	5	33				
LRRN3	54674	broad.mit.edu	37	7	110764636	110764637	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:110764636_110764637insA	ENST00000422987.3	+	2	2639_2640	c.1808_1809insA	c.(1807-1812)agaaaafs	p.RK603fs	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.RK603fs|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Frame_Shift_Ins_p.RK603fs|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	603	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGAAAAACAGAAAAAAATGTG	0.356																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1807-1809)aaafs		leucine rich repeat neuronal 3																																				SO:0001589	frameshift_variant	54674					integral to membrane		g.chr7:110764636_110764637insA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1815dupA	7.37:g.110764643_110764643dupA	ENSP00000412417:p.Arg603fs					IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000447215.1_Intron	p.K603fs	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2854_2855	+			603			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Frame_Shift_Ins	INS	ENST00000422987.3	37	c.1808_1809insA	CCDS5754.1																																																																																				0.356	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	26						8	26	---	---	---	---
PIGB	9488	broad.mit.edu	37	15	55631517	55631517	+	Splice_Site	DEL	G	G	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:55631517delG	ENST00000164305.5	+	7	1137		c.e7+1		PIGB_ENST00000539642.1_Splice_Site|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTTTGGCCAAGTAAGTAAAAG	0.284																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.e7+1		phosphatidylinositol glycan anchor biosynthesis, class B							125.0	100.0	108.0					15																	55631517		1778	4027	5805	SO:0001630	splice_region_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55631517delG	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.846+1G>-	15.37:g.55631517delG						PIGB_ENST00000539642.1_Splice_Site		NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	7	1137	+								Q53FF9|Q8WVN7	Splice_Site	DEL	ENST00000164305.5	37																																																																																						0.284	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	Intron	2	4						2	4	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73660496	73660496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:73660496delC	ENST00000261917.3	-	1	1109	c.116delG	c.(115-117)ggcfs	p.G39fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	39					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCTTGGCGGCCCCCGGCCCC	0.751																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(115-117)gcfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							2.0	3.0	3.0					15																	73660496		1620	3484	5104	SO:0001589	frameshift_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73660496delC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.116delG	15.37:g.73660496delC	ENSP00000261917:p.Gly39fs						p.G39fs	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	1	1109	-			39					Q9UMQ7	Frame_Shift_Del	DEL	ENST00000261917.3	37	c.116delG	CCDS10248.1																																																																																				0.751	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		2	4						2	4	---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58706128	58706128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58706128delG	ENST00000570101.1	-	8	1786	c.903delC	c.(901-903)accfs	p.T301fs	SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	301					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTCCAAAGGTCAGGAAGC	0.612																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(901-903)acfs		solute carrier family 38, member 7							38.0	33.0	35.0					16																	58706128		2187	4291	6478	SO:0001589	frameshift_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58706128delG	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.903delC	16.37:g.58706128delG	ENSP00000454646:p.Thr301fs					SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs|SLC38A7_ENST00000566953.1_5'UTR	p.T301fs			Q9NVC3	S38A7_HUMAN			8	1786	-			301					Q53GJ9|Q9H9I5	Frame_Shift_Del	DEL	ENST00000570101.1	37	c.903delC	CCDS10800.1																																																																																				0.612	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		2	4						2	4	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73780852	73780852	+	5'UTR	DEL	G	G	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:73780852delG	ENST00000589666.1	+	0	1				H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Frame_Shift_Del_p.W40fs|MIR4738_ENST00000579134.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCGTGTGGGGGGTCTTC	0.617																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(118-120)tgfs		unkempt family zinc finger							22.0	28.0	26.0					17																	73780852		1915	4119	6034	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780852delG	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-110G>-	17.37:g.73780852delG						H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.W40fs			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	119	+			0						Frame_Shift_Del	DEL	ENST00000589666.1	37	c.119delG	CCDS45778.2																																																																																				0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		7	28						7	28	---	---	---	---
