#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_ACHILLES_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
B3GALT6	126792	broad.mit.edu	37	1	1168139	1168139	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:1168139G>A	ENST00000379198.2	+	1	511	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	SDF4_ENST00000459994.2_5'Flank|SDF4_ENST00000360001.6_5'Flank|SDF4_ENST00000545427.1_5'Flank|SDF4_ENST00000263741.7_5'Flank	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	161					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi medial cisterna (GO:0005797)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylxylosylprotein 3-beta-galactosyltransferase activity (GO:0047220)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)|UDP-galactosyltransferase activity (GO:0035250)			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGACTCCTTCGCGCGGCTGGA	0.726																																							uc001adk.2		NA																	0					0						c.(481-483)GCG>ACG		beta-1,3-galactosyltransferase 6							14.0	17.0	16.0					1																	1168139		2096	4147	6243	SO:0001583	missense	126792				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity	g.chr1:1168139G>A	AY050570	CCDS13.1	1p36.33	2013-02-19	2002-05-23		ENSG00000176022	ENSG00000176022		"""Beta 3-glycosyltransferases"""	17978	protein-coding gene	gene with protein product	"""beta-1,3-galactosyltransferase-6"""	615291	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6"""			11551958	Standard	NM_080605		Approved	beta3GalT6	uc001adk.3	Q96L58	OTTHUMG00000001813	ENST00000379198.2:c.481G>A	1.37:g.1168139G>A	ENSP00000368496:p.Ala161Thr					SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	p.A161T	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	511	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	161			Lumenal (Potential).		Q5T7M5	Missense_Mutation	SNP	ENST00000379198.2	37	c.481G>A	CCDS13.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063551	0.93898	.	.	ENSG00000176022	ENST00000379198	T	0.41758	0.99	3.85	3.85	0.44370	.	0.134012	0.48767	U	0.000165	T	0.52869	0.1761	L	0.56124	1.755	0.58432	D	0.999994	D	0.58268	0.982	P	0.55965	0.788	T	0.59161	-0.7506	10	0.66056	D	0.02	-30.7862	15.0072	0.71522	0.0:0.0:1.0:0.0	.	161	Q96L58	B3GT6_HUMAN	T	161	ENSP00000368496:A161T	ENSP00000368496:A161T	A	+	1	0	B3GALT6	1158002	1.000000	0.71417	0.330000	0.25442	0.981000	0.71138	7.009000	0.76347	1.995000	0.58328	0.281000	0.19383	GCG		0.726	B3GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005071.1	NM_080605		4	32	0	0	0	0.000602	0	4	32				
FAM213B	127281	broad.mit.edu	37	1	2519200	2519200	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:2519200A>T	ENST00000378425.5	+	3	365	c.289A>T	c.(289-291)Aag>Tag	p.K97*	FAM213B_ENST00000444521.2_Nonsense_Mutation_p.K97*|FAM213B_ENST00000419916.2_Nonsense_Mutation_p.K127*|FAM213B_ENST00000378424.4_Nonsense_Mutation_p.K127*|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Nonsense_Mutation_p.K127*			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	97					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										GGATGAGAGCAAGCAGCTTTA	0.632																																							uc001aju.1		NA																	0				central_nervous_system(1)	1						c.(289-291)AAG>TAG		hypothetical protein LOC127281							53.0	45.0	48.0					1																	2519200		2201	4299	6500	SO:0001587	stop_gained	127281				prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr1:2519200A>T	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.289A>T	1.37:g.2519200A>T	ENSP00000367682:p.Lys97*					C1orf93_uc001ajw.1_Nonsense_Mutation_p.K97*|C1orf93_uc001ajv.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nzd.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nze.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nzf.1_Nonsense_Mutation_p.K97*|C1orf93_uc001ajx.1_5'UTR	p.K97*	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	3	365	+	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	97					A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Nonsense_Mutation	SNP	ENST00000378425.5	37	c.289A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400704|3.400704	0.62177|0.62177	.|.	.|.	ENSG00000157870|ENSG00000157870	ENST00000419916;ENST00000378424;ENST00000537325;ENST00000378425;ENST00000444521|ENST00000378427	.|.	.|.	.|.	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50990	.|0.1648	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60786	.|-0.7194	.|3	0.02654|.	T|.	1|.	-20.9007|-20.9007	8.9616|8.9616	0.35851|0.35851	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	127;127;127;97;97|126	.|.	ENSP00000367681:K127X|.	K|Q	+|+	1|2	0|0	C1orf93|C1orf93	2509060|2509060	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.329000|0.329000	0.28539|0.28539	2.384000|2.384000	0.44362|0.44362	1.686000|1.686000	0.51046|0.51046	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.632	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371		6	8	0	0	0	0.001984	0	6	8				
MMEL1	79258	broad.mit.edu	37	1	2526778	2526778	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:2526778C>A	ENST00000378412.3	-	16	1682	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	MMEL1_ENST00000288709.6_Missense_Mutation_p.Q498H|MMEL1_ENST00000502556.1_Missense_Mutation_p.Q350H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	507						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGTGCCCGATCTGCTCCCGGA	0.652																																							uc001ajy.2		NA																	0					0						c.(1519-1521)CAG>CAT		membrane metallo-endopeptidase-like 1							69.0	65.0	67.0					1																	2526778		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2526778C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1521G>T	1.37:g.2526778C>A	ENSP00000367668:p.Gln507His					MMEL1_uc009vlg.1_RNA	p.Q507H	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	16	1735	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	507			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1521G>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	5.536	0.283868	0.10458	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.73681	-0.77;-0.77;-0.77	5.04	3.14	0.36123	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.107324	0.64402	D	0.000003	T	0.57814	0.2079	N	0.17564	0.495	0.49051	D	0.999748	B	0.25206	0.12	B	0.30646	0.118	T	0.52601	-0.8554	10	0.51188	T	0.08	-33.5767	7.6277	0.28222	0.0:0.6663:0.0:0.3337	.	507	Q495T6	MMEL1_HUMAN	H	350;498;507;350	ENSP00000288709:Q498H;ENSP00000367668:Q507H;ENSP00000422492:Q350H	ENSP00000288709:Q498H	Q	-	3	2	MMEL1	2516638	0.945000	0.32115	0.955000	0.39395	0.080000	0.17528	-0.007000	0.12810	0.623000	0.30267	-0.291000	0.09656	CAG		0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		8	45	1	0	1.26484e-09	0.00308	1.49854e-09	8	45				
ESPN	83715	broad.mit.edu	37	1	6504661	6504661	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:6504661A>T	ENST00000377828.1	+	6	1279	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	371					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTGACCTCAGCTCGCCTAC	0.612																																							uc001amy.2		NA																	0					0						c.(1111-1113)AGC>TGC		espin							137.0	101.0	113.0					1																	6504661		2203	4300	6503	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6504661A>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1111A>T	1.37:g.6504661A>T	ENSP00000367059:p.Ser371Cys						p.S371C	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	6	1279	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	371					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.1111A>T	CCDS70.1	.	.	.	.	.	.	.	.	.	.	a	8.994	0.978359	0.18812	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.46451	0.87;0.87	3.6	1.0	0.19881	.	0.249887	0.28493	N	0.015158	T	0.18215	0.0437	N	0.11560	0.145	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.04373	-1.0956	10	0.37606	T	0.19	-21.1361	2.8849	0.05658	0.3793:0.0:0.3852:0.2355	.	371	B1AK53	ESPN_HUMAN	C	371;156	ENSP00000367059:S371C;ENSP00000401793:S156C	ENSP00000367059:S371C	S	+	1	0	ESPN	6427248	0.410000	0.25376	0.998000	0.56505	0.604000	0.37047	0.298000	0.19120	0.486000	0.27676	0.398000	0.26397	AGC		0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		60	64	0	0	0	0.00361	0	60	64				
TAS1R1	80835	broad.mit.edu	37	1	6631174	6631174	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:6631174C>T	ENST00000333172.6	+	2	590	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	TAS1R1_ENST00000328191.4_Missense_Mutation_p.L133F|TAS1R1_ENST00000351136.3_Missense_Mutation_p.L133F	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	133					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGGAGACCTTCTCCACTA	0.582																																							uc001ant.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(397-399)CTT>TTT		sweet taste receptor T1r isoform b							144.0	132.0	136.0					1																	6631174		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631174C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.397C>T	1.37:g.6631174C>T	ENSP00000331867:p.Leu133Phe					TAS1R1_uc001anu.2_Missense_Mutation_p.L133F|TAS1R1_uc001anv.2_Missense_Mutation_p.L133F|TAS1R1_uc001anw.2_Missense_Mutation_p.L133F	p.L133F	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	397	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	133			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.397C>T	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119938	0.20877	.	.	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.86366	-2.11;-2.11;-2.11	5.08	-0.417	0.12347	Extracellular ligand-binding receptor (1);	1.178310	0.06379	N	0.714873	T	0.72285	0.3441	N	0.17631	0.505	0.09310	N	1	B;B;B;B	0.24721	0.11;0.046;0.002;0.008	B;B;B;B	0.24701	0.055;0.037;0.004;0.017	T	0.57306	-0.7834	10	0.10377	T	0.69	.	1.5242	0.02522	0.1424:0.4071:0.1394:0.3111	.	133;133;133;133	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	F	133;133;55;133	ENSP00000331867:L133F;ENSP00000327705:L133F;ENSP00000312558:L133F	ENSP00000327705:L133F	L	+	1	0	TAS1R1	6553761	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	-0.232000	0.09055	0.164000	0.19529	-0.142000	0.14014	CTT		0.582	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			36	140	0	0	0	0.003755	0	36	140				
H6PD	9563	broad.mit.edu	37	1	9324171	9324171	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:9324171C>T	ENST00000377403.2	+	5	1921	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	H6PD_ENST00000602477.1_Missense_Mutation_p.P551L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	540	Linker.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCAATGCCCAGTGACTTC	0.622																																							uc001apt.2		NA																	0					0						c.(1618-1620)CCC>CTC		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						33.0	42.0	39.0					1																	9324171		2201	4299	6500	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324171C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1619C>T	1.37:g.9324171C>T	ENSP00000366620:p.Pro540Leu						p.P540L	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1892	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	540			Linker.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1619C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800838	0.50315	.	.	ENSG00000049239	ENST00000377403	D	0.98234	-4.81	5.67	4.71	0.59529	.	0.212843	0.49916	D	0.000132	D	0.96898	0.8987	M	0.65975	2.015	0.47245	D	0.99936	B	0.31581	0.329	B	0.28849	0.095	D	0.96713	0.9527	10	0.72032	D	0.01	-35.8148	15.2244	0.73339	0.0:0.8593:0.1407:0.0	.	540	O95479	G6PE_HUMAN	L	540	ENSP00000366620:P540L	ENSP00000366620:P540L	P	+	2	0	H6PD	9246758	0.923000	0.31300	0.997000	0.53966	0.890000	0.51754	4.128000	0.57951	2.677000	0.91161	0.561000	0.74099	CCC		0.622	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		13	71	0	0	0	0.001368	0	13	71				
UBE4B	10277	broad.mit.edu	37	1	10179590	10179590	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:10179590T>C	ENST00000253251.8	+	8	1810	c.971T>C	c.(970-972)gTc>gCc	p.V324A	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.V453A|UBE4B_ENST00000377157.3_Missense_Mutation_p.V208A					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGCCAGCAGTCAGCCAGCTT	0.463																																							uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(1357-1359)GTC>GCC		ubiquitination factor E4B isoform 1							124.0	104.0	111.0					1																	10179590		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10179590T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.971T>C	1.37:g.10179590T>C	ENSP00000253251:p.Val324Ala					UBE4B_uc001aqr.3_Missense_Mutation_p.V324A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	p.V453A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	9	2071	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	453						Missense_Mutation	SNP	ENST00000253251.8	37	c.1358T>C	CCDS110.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751430	0.69533	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46063	0.88;0.88;0.88	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	L	0.54323	1.7	0.80722	D	1	P;P	0.52577	0.801;0.954	B;D	0.65140	0.344;0.932	T	0.49303	-0.8954	10	0.18710	T	0.47	-27.97	16.0786	0.80985	0.0:0.0:0.0:1.0	.	453;324	O95155;O95155-2	UBE4B_HUMAN;.	A	324;208;453	ENSP00000253251:V324A;ENSP00000366362:V208A;ENSP00000343001:V453A	ENSP00000253251:V324A	V	+	2	0	UBE4B	10102177	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.903000	0.69877	2.254000	0.74563	0.460000	0.39030	GTC		0.463	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	91	0	0	0	0.001984	0	6	91				
PGD	5226	broad.mit.edu	37	1	10478942	10478942	+	Missense_Mutation	SNP	T	T	C	rs200206224		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:10478942T>C	ENST00000270776.8	+	11	1207	c.1169T>C	c.(1168-1170)cTa>cCa	p.L390P	PGD_ENST00000541529.1_Missense_Mutation_p.L368P|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Missense_Mutation_p.L377P	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	390					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CAGAACCTCCTACTGGACGAC	0.448																																							uc001arc.2		NA																	0				ovary(1)	1						c.(1168-1170)CTA>CCA		phosphogluconate dehydrogenase							120.0	117.0	118.0					1																	10478942		2203	4300	6503	SO:0001583	missense	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10478942T>C	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1169T>C	1.37:g.10478942T>C	ENSP00000270776:p.Leu390Pro					PGD_uc001ard.2_Missense_Mutation_p.L310P|PGD_uc010oak.1_Missense_Mutation_p.L368P|PGD_uc010oal.1_Missense_Mutation_p.L377P	p.L390P	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	11	1259	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	390					A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.1169T>C	CCDS113.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	t	22.7	4.320149	0.81469	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.54479	0.57;0.57;0.57	5.08	5.08	0.68730	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	H	0.96175	3.78	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.79108	0.962;0.992;0.992	D	0.87248	0.2271	10	0.72032	D	0.01	-15.3327	15.2022	0.73150	0.0:0.0:0.0:1.0	.	368;390;390	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	P	368;336;390;377	ENSP00000442285:L368P;ENSP00000270776:L390P;ENSP00000437822:L377P	ENSP00000270776:L390P	L	+	2	0	PGD	10401529	1.000000	0.71417	0.058000	0.19502	0.933000	0.57130	7.313000	0.78978	2.049000	0.60858	0.524000	0.50904	CTA		0.448	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		11	138	0	0	0	0.008291	0	11	138				
MTOR	2475	broad.mit.edu	37	1	11291373	11291373	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11291373T>G	ENST00000361445.4	-	17	2709	c.2633A>C	c.(2632-2634)cAg>cCg	p.Q878P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	878					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCGTGTACCCTGGTTCTGCTC	0.502																																							uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2632-2634)CAG>CCG		FK506 binding protein 12-rapamycin associated							258.0	245.0	249.0					1																	11291373		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11291373T>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2633A>C	1.37:g.11291373T>G	ENSP00000354558:p.Gln878Pro						p.Q878P	NM_004958	NP_004949	P42345	MTOR_HUMAN			17	2754	-			878			HEAT 3.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2633A>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394256	0.42410	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.60672	0.17	5.84	5.84	0.93424	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19811	-1.0294	10	0.23891	T	0.37	-24.81	16.2108	0.82158	0.0:0.0:0.0:1.0	.	878	P42345	MTOR_HUMAN	P	878	ENSP00000354558:Q878P	ENSP00000354558:Q878P	Q	-	2	0	MTOR	11213960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.588000	0.82629	2.232000	0.73038	0.533000	0.62120	CAG		0.502	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		17	312	0	0	0	0.007413	0	17	312				
PTCHD2	57540	broad.mit.edu	37	1	11561464	11561464	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11561464G>A	ENST00000294484.6	+	2	553	c.415G>A	c.(415-417)Gat>Aat	p.D139N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D139N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	139					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAACCGGCGCGATTTGGCCGA	0.632																																							uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(415-417)GAT>AAT		patched domain containing 2							33.0	35.0	34.0					1																	11561464		2028	4173	6201	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561464G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.415G>A	1.37:g.11561464G>A	ENSP00000294484:p.Asp139Asn					PTCHD2_uc001asi.1_Missense_Mutation_p.D139N	p.D139N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	553	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	139			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.415G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432494	0.83776	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.59772	0.24;0.24	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69734	-0.5065	10	0.59425	D	0.04	-36.6048	18.9865	0.92773	0.0:0.0:1.0:0.0	.	139	Q9P2K9	PTHD2_HUMAN	N	139	ENSP00000294484:D139N;ENSP00000374226:D139N	ENSP00000294484:D139N	D	+	1	0	PTCHD2	11484051	1.000000	0.71417	0.995000	0.50966	0.414000	0.31173	7.240000	0.78192	2.724000	0.93272	0.561000	0.74099	GAT		0.632	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		10	36	0	0	0	0.006214	0	10	36				
PTCHD2	57540	broad.mit.edu	37	1	11561954	11561954	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11561954A>C	ENST00000294484.6	+	2	1043	c.905A>C	c.(904-906)gAg>gCg	p.E302A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E302A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	302					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CATGAGATCGAGCGCAAGATC	0.637																																							uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(904-906)GAG>GCG		patched domain containing 2							31.0	34.0	33.0					1																	11561954		1974	4150	6124	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561954A>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.905A>C	1.37:g.11561954A>C	ENSP00000294484:p.Glu302Ala					PTCHD2_uc001asi.1_Missense_Mutation_p.E302A	p.E302A	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	1043	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	302			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.905A>C	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685910	0.88639	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.24908	1.83;1.83	5.91	5.91	0.95273	.	0.051897	0.85682	D	0.000000	T	0.40423	0.1116	L	0.29908	0.895	0.54753	D	0.999986	D	0.71674	0.998	D	0.79108	0.992	T	0.29181	-1.0020	10	0.87932	D	0	-36.0404	15.5295	0.75942	1.0:0.0:0.0:0.0	.	302	Q9P2K9	PTHD2_HUMAN	A	302	ENSP00000294484:E302A;ENSP00000374226:E302A	ENSP00000294484:E302A	E	+	2	0	PTCHD2	11484541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.809000	0.91944	2.254000	0.74563	0.533000	0.62120	GAG		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	32	0	0	0	0.000602	0	5	32				
VPS13D	55187	broad.mit.edu	37	1	12368591	12368591	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12368591T>G	ENST00000358136.3	+	27	6673	c.6543T>G	c.(6541-6543)gaT>gaG	p.D2181E	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2181E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACCAGAGGATAGTAGTGGAG	0.498																																							uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(6541-6543)GAT>GAG		vacuolar protein sorting 13D isoform 1							183.0	173.0	177.0					1																	12368591		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12368591T>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6543T>G	1.37:g.12368591T>G	ENSP00000350854:p.Asp2181Glu					VPS13D_uc001atw.2_Missense_Mutation_p.D2181E|VPS13D_uc001atx.2_Missense_Mutation_p.D1369E|VPS13D_uc001aty.1_5'Flank	p.D2181E	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6684	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2181						Missense_Mutation	SNP	ENST00000358136.3	37	c.6543T>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.877|4.877	0.163029|0.163029	0.09287|0.09287	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.41065|.	1.01;1.01|.	5.72|5.72	2.37|2.37	0.29283|0.29283	.|.	0.445738|.	0.20009|.	N|.	0.101177|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.16903|0.16903	0.455|0.455	0.23563|0.23563	N|N	0.997401|0.997401	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.23261|0.23261	-1.0193|-1.0193	10|5	0.09590|.	T|.	0.72|.	.|.	4.5476|4.5476	0.12088|0.12088	0.1058:0.5422:0.1038:0.2481|0.1058:0.5422:0.1038:0.2481	.|.	2181;2181|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	E|R	2181|1004	ENSP00000348666:D2181E;ENSP00000350854:D2181E|.	ENSP00000348666:D2181E|.	D|I	+|+	3|2	2|0	VPS13D|VPS13D	12291178|12291178	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.001000|0.001000	0.13038|0.13038	0.355000|0.355000	0.24131|0.24131	-0.847000|-0.847000	0.03039|0.03039	GAT|ATA		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		30	148	0	0	0	0.002096	0	30	148				
PRAMEF2	65122	broad.mit.edu	37	1	12921200	12921200	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12921200C>A	ENST00000240189.2	+	4	1078	c.991C>A	c.(991-993)Ctg>Atg	p.L331M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	331					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTACGTGCTGCTGTTCCG	0.498																																							uc001aum.1		NA																	0					0						c.(991-993)CTG>ATG		PRAME family member 2							177.0	178.0	178.0					1																	12921200		2202	4293	6495	SO:0001583	missense	65122							g.chr1:12921200C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.991C>A	1.37:g.12921200C>A	ENSP00000240189:p.Leu331Met						p.L331M	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1078	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	331			LRR 1.			Missense_Mutation	SNP	ENST00000240189.2	37	c.991C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811374	0.16537	.	.	ENSG00000120952	ENST00000240189	T	0.45668	0.89	0.766	-1.0	0.10196	.	2.588690	0.01360	N	0.012214	T	0.44180	0.1281	L	0.32530	0.975	0.09310	N	1	P	0.51057	0.941	P	0.56823	0.807	T	0.25082	-1.0142	10	0.30854	T	0.27	.	3.5492	0.07840	0.47:0.53:0.0:0.0	.	331	O60811	PRAM2_HUMAN	M	331	ENSP00000240189:L331M	ENSP00000240189:L331M	L	+	1	2	PRAMEF2	12843787	0.000000	0.05858	0.001000	0.08648	0.200000	0.23975	-0.147000	0.10234	-0.236000	0.09753	0.089000	0.15464	CTG		0.498	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		11	181	1	0	3.86212e-05	0.008291	4.16694e-05	11	181				
PRAMEF2	65122	broad.mit.edu	37	1	12921234	12921234	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12921234C>A	ENST00000240189.2	+	4	1112	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTAGGAGCTCTGCTAGAG	0.542																																							uc001aum.1		NA																	0					0						c.(1024-1026)GCT>GAT		PRAME family member 2							182.0	182.0	182.0					1																	12921234		2202	4294	6496	SO:0001583	missense	65122							g.chr1:12921234C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1025C>A	1.37:g.12921234C>A	ENSP00000240189:p.Ala342Asp						p.A342D	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1112	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	342			LRR 1.			Missense_Mutation	SNP	ENST00000240189.2	37	c.1025C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	6.867	0.529367	0.13127	.	.	ENSG00000120952	ENST00000240189	T	0.09445	2.98	0.824	-1.65	0.08291	.	1.197740	0.06012	N	0.649667	T	0.10078	0.0247	L	0.46614	1.455	0.09310	N	1	P	0.44734	0.842	B	0.42653	0.394	T	0.08351	-1.0726	10	0.34782	T	0.22	.	2.1736	0.03856	0.2651:0.2539:0.0:0.481	.	342	O60811	PRAM2_HUMAN	D	342	ENSP00000240189:A342D	ENSP00000240189:A342D	A	+	2	0	PRAMEF2	12843821	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-1.535000	0.02210	-1.881000	0.01123	-1.250000	0.01514	GCT		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		138	71	1	0	7.33161e-80	0.00361	9.63096e-80	138	71				
HTR6	3362	broad.mit.edu	37	1	19992715	19992715	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:19992715G>A	ENST00000289753.1	+	1	936	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	157					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.A157T(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CGCCGCTCTCGCCTCCTTCCT	0.716																																					Esophageal Squamous(168;1879 2619 6848 21062)	Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(469-471)GCC>ACC		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	30.0	30.0					1																	19992715		2201	4299	6500	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992715G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.469G>A	1.37:g.19992715G>A	ENSP00000289753:p.Ala157Thr						p.A157T	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	936	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	157			Helical; Name=4; (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.469G>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832040	0.50845	.	.	ENSG00000158748	ENST00000289753	T	0.72282	-0.64	4.11	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.185287	0.47852	N	0.000217	T	0.46870	0.1415	N	0.05351	-0.065	0.25277	N	0.98946	P	0.47191	0.891	B	0.40134	0.32	T	0.37820	-0.9689	9	.	.	.	.	10.6478	0.45630	0.0971:0.0:0.9029:0.0	.	157	P50406	5HT6R_HUMAN	T	157	ENSP00000289753:A157T	.	A	+	1	0	HTR6	19865302	1.000000	0.71417	0.884000	0.34674	0.909000	0.53808	3.284000	0.51708	0.865000	0.35603	0.491000	0.48974	GCC		0.716	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		8	55	0	0	0	0.006214	0	8	55				
MUL1	79594	broad.mit.edu	37	1	20827840	20827840	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:20827840G>A	ENST00000264198.3	-	4	538	c.402C>T	c.(400-402)ggC>ggT	p.G134G		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	134					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACATCCACGCCATCCTCGT	0.507																																							uc001bdi.3		NA																	0					0						c.(400-402)GGC>GGT		mitochondrial ubiquitin ligase activator of NFKB							81.0	87.0	85.0					1																	20827840		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827840G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.402C>T	1.37:g.20827840G>A							p.G134G	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	559	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	134			Mitochondrial intermembrane (Potential).		B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.402C>T	CCDS208.1																																																																																				0.507	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		19	94	0	0	0	0.006122	0	19	94				
KIF17	57576	broad.mit.edu	37	1	20998460	20998460	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:20998460G>T	ENST00000247986.2	-	12	3003	c.2693C>A	c.(2692-2694)cCc>cAc	p.P898H	KIF17_ENST00000375044.1_Missense_Mutation_p.P798H|KIF17_ENST00000400463.3_Missense_Mutation_p.P898H|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	898					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTGATGACGGGATGTGGGAT	0.577																																							uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(2692-2694)CCC>CAC		kinesin family member 17 isoform a							136.0	123.0	127.0					1																	20998460		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20998460G>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2693C>A	1.37:g.20998460G>T	ENSP00000247986:p.Pro898His					KIF17_uc001bdp.3_Missense_Mutation_p.P176H|KIF17_uc001bdq.3_Missense_Mutation_p.P176H|KIF17_uc009vpx.2_Missense_Mutation_p.P268H|KIF17_uc001bds.3_Missense_Mutation_p.P898H	p.P898H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	12	2811	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	898					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.2693C>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649413	0.47362	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.72835	-0.69;-0.52;-0.55	5.42	5.42	0.78866	.	0.000000	0.32401	U	0.006150	T	0.80959	0.4724	L	0.61218	1.895	0.32490	N	0.540299	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.998	D	0.84511	0.0622	10	0.72032	D	0.01	.	11.9746	0.53083	0.0793:0.0:0.9207:0.0	.	898;898;898	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	H	798;898;898;279	ENSP00000364184:P798H;ENSP00000383311:P898H;ENSP00000247986:P898H	ENSP00000247986:P898H	P	-	2	0	KIF17	20871047	1.000000	0.71417	0.476000	0.27291	0.103000	0.19146	5.300000	0.65721	2.709000	0.92574	0.561000	0.74099	CCC		0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		16	85	1	0	3.45872e-05	0.004007	3.75122e-05	16	85				
EIF4G3	8672	broad.mit.edu	37	1	21268372	21268372	+	Silent	SNP	C	C	A	rs150884106		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:21268372C>A	ENST00000264211.8	-	8	1301	c.1107G>T	c.(1105-1107)acG>acT	p.T369T	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.T369T|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000602326.1_Silent_p.T375T|EIF4G3_ENST00000374937.3_Silent_p.T375T|EIF4G3_ENST00000400422.1_Silent_p.T369T|EIF4G3_ENST00000356916.3_Silent_p.T380T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	369					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T375T(1)|p.T369T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAATGCTCTCCGTGGCTGATA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21450	0.0		0.0	False		,,,				2504	0.0						uc001bec.2		NA																	2	Substitution - coding silent(2)		kidney(2)	skin(1)	1						c.(1105-1107)ACG>ACT		eukaryotic translation initiation factor 4		C	,,,	6,4400	11.4+/-27.6	0,6,2197	115.0	116.0	116.0		1104,1125,1140,1107	-9.6	0.0	1	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G3	NM_001198801.1,NM_001198802.1,NM_001198803.1,NM_003760.4	,,,	0,6,6497	AA,AC,CC		0.0,0.1362,0.0461	,,,	368/1622,375/1592,380/516,369/1586	21268372	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268372C>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1107G>T	1.37:g.21268372C>A						EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Silent_p.T368T|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.T369T|EIF4G3_uc001bef.2_Silent_p.T368T|EIF4G3_uc001bee.2_Silent_p.T375T|EIF4G3_uc001beg.2_Silent_p.T368T|EIF4G3_uc010odk.1_Silent_p.T369T|EIF4G3_uc001beh.2_Silent_p.T380T	p.T369T	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	9	1363	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	369					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.1107G>T	CCDS214.1																																																																																				0.383	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		31	126	1	0	1.30897e-18	0.009535	1.66669e-18	31	126				
C1QA	712	broad.mit.edu	37	1	22965741	22965741	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:22965741C>A	ENST00000374642.3	+	3	783	c.579C>A	c.(577-579)acC>acA	p.T193T	C1QA_ENST00000402322.1_Silent_p.T193T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	193	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGACACCACCAACAAGGGGC	0.582																																							uc001bfy.2		NA																	0					0						c.(577-579)ACC>ACA		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						68.0	74.0	72.0					1																	22965741		2203	4300	6503	SO:0001819	synonymous_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965741C>A	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.579C>A	1.37:g.22965741C>A						C1QA_uc001bfz.2_Silent_p.T193T	p.T193T	NM_015991	NP_057075	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	664	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	193			C1q.		B2R4X2|Q5T963	Silent	SNP	ENST00000374642.3	37	c.579C>A	CCDS226.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250590	0.10130	.	.	ENSG00000173372	ENST00000339353	.	.	.	5.82	3.96	0.45880	.	0.354054	0.20745	N	0.086475	T	0.71143	0.3305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72337	-0.4324	6	0.87932	D	0	-1.0E-4	10.9797	0.47486	0.0:0.8491:0.0:0.1509	.	.	.	.	Q	188	.	ENSP00000341271:P188Q	P	+	2	0	C1QA	22838328	1.000000	0.71417	0.888000	0.34837	0.479000	0.33129	3.158000	0.50723	0.810000	0.34279	0.561000	0.74099	CCA		0.582	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		27	59	1	0	6.12954e-19	0.004656	7.82869e-19	27	59				
SRRM1	10250	broad.mit.edu	37	1	24979060	24979060	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:24979060G>T	ENST00000323848.9	+	7	1176	c.861G>T	c.(859-861)cgG>cgT	p.R287R	SRRM1_ENST00000374389.4_Silent_p.R287R|SRRM1_ENST00000537199.1_Silent_p.R156R|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Silent_p.R287R	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	287	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAAGATCCCGGACGCGGTCCC	0.488																																					Ovarian(68;897 1494 3282 17478)	Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(859-861)CGG>CGT		serine/arginine repetitive matrix 1							39.0	41.0	40.0					1																	24979060		2203	4300	6503	SO:0001819	synonymous_variant	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24979060G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.861G>T	1.37:g.24979060G>T						SRRM1_uc010oel.1_Silent_p.R287R|SRRM1_uc009vrh.1_Silent_p.R248R|SRRM1_uc009vri.1_Silent_p.R204R|SRRM1_uc010oem.1_RNA	p.R287R	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	7	1085	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	287			Pro-rich.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	c.861G>T	CCDS255.1																																																																																				0.488	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		7	22	1	0	0.00307968	0.00308	0.0032006	7	22				
SLC9A1	6548	broad.mit.edu	37	1	27480569	27480569	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:27480569C>T	ENST00000263980.3	-	1	832	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.R86H	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	86					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.R86H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAAGGCCTTGCGCGGCTTCAT	0.587																																							uc001bnm.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(256-258)CGC>CAC		solute carrier family 9, isoform A1	Amiloride(DB00594)						109.0	110.0	109.0					1																	27480569		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27480569C>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.257G>A	1.37:g.27480569C>T	ENSP00000263980:p.Arg86His					SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.R86H	p.R86H	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	1	883	-			86			Extracellular (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.257G>A	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424703	0.62733	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T	0.64803	0.88;-0.12	4.9	4.9	0.64082	.	0.183867	0.30840	N	0.008771	T	0.48040	0.1478	L	0.27053	0.805	0.80722	D	1	B;B	0.27316	0.175;0.006	B;B	0.17722	0.019;0.003	T	0.48681	-0.9014	10	0.49607	T	0.09	.	13.452	0.61176	0.0:1.0:0.0:0.0	.	86;86	P19634-2;P19634	.;SL9A1_HUMAN	H	86	ENSP00000263980:R86H;ENSP00000363199:R86H	ENSP00000263980:R86H	R	-	2	0	SLC9A1	27353156	0.962000	0.33011	0.953000	0.39169	0.906000	0.53458	3.014000	0.49590	2.564000	0.86499	0.655000	0.94253	CGC		0.587	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		22	67	0	0	0	0.002299	0	22	67				
TRNAU1AP	54952	broad.mit.edu	37	1	28880162	28880162	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:28880162A>G	ENST00000373830.3	+	2	64	c.38A>G	c.(37-39)tAc>tGc	p.Y13C	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTGGAACCCTACATGGATGAG	0.587																																							uc001bqi.2		NA																	0					0						c.(37-39)TAC>TGC		tRNA selenocysteine associated protein 1							72.0	60.0	64.0					1																	28880162		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28880162A>G		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.38A>G	1.37:g.28880162A>G	ENSP00000362936:p.Tyr13Cys					TRNAU1AP_uc001bqh.2_5'UTR|TRNAU1AP_uc010ofw.1_5'UTR	p.Y13C	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN			2	132	+			13			RRM 1.		Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.38A>G	CCDS324.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.054249	0.55218	.	.	ENSG00000180098	ENST00000373830	T	0.05925	3.37	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.131175	0.53938	D	0.000055	T	0.20861	0.0502	M	0.64404	1.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.74348	0.983	T	0.00247	-1.1881	10	0.48119	T	0.1	.	12.9934	0.58634	1.0:0.0:0.0:0.0	.	13	Q9NX07	TSAP1_HUMAN	C	13	ENSP00000362936:Y13C	ENSP00000362936:Y13C	Y	+	2	0	TRNAU1AP	28752749	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	7.050000	0.76620	2.089000	0.63090	0.462000	0.41574	TAC		0.587	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		6	30	0	0	0	0.001984	0	6	30				
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:31899543C>T	ENST00000373709.3	+	6	803	c.653C>T	c.(652-654)gCg>gTg	p.A218V	SERINC2_ENST00000373710.1_Missense_Mutation_p.A227V|SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	218					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597																																							uc010ogh.1		NA																	0					0						c.(664-666)GCG>GTG		tumor differentially expressed 2-like							203.0	179.0	187.0					1																	31899543		2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31899543C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.653C>T	1.37:g.31899543C>T	ENSP00000362813:p.Ala218Val					SERINC2_uc010ogg.1_Missense_Mutation_p.A219V|SERINC2_uc001bst.2_Missense_Mutation_p.A218V|SERINC2_uc001bsu.2_Missense_Mutation_p.A163V|SERINC2_uc001bsv.2_Missense_Mutation_p.A163V	p.A222V	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	6	866	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	218			Helical; (Potential).		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.665C>T	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404194	0.01165	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.99	3.13	0.36017	.	0.331422	0.36555	N	0.002533	T	0.08403	0.0209	L	0.31752	0.955	0.09310	N	1	B;B;B	0.21606	0.003;0.007;0.058	B;B;B	0.20955	0.006;0.01;0.032	T	0.38757	-0.9646	10	0.02654	T	1	-17.1451	11.1504	0.48455	0.0:0.8482:0.0:0.1518	.	222;227;218	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	227;222;218;222	ENSP00000362814:A227V;ENSP00000444307:A222V;ENSP00000362813:A218V;ENSP00000439048:A222V	ENSP00000362813:A218V	A	+	2	0	SERINC2	31672130	0.000000	0.05858	0.015000	0.15790	0.146000	0.21551	0.251000	0.18257	0.703000	0.31848	0.561000	0.74099	GCG		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		31	80	0	0	0	0.009535	0	31	80				
COL16A1	1307	broad.mit.edu	37	1	32120447	32120447	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:32120447T>G	ENST00000373672.3	-	68	4819	c.4303A>C	c.(4303-4305)Aat>Cat	p.N1435H	RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|COL16A1_ENST00000461217.1_5'UTR|COL16A1_ENST00000271069.6_Missense_Mutation_p.N1435H|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1435	Nonhelical region 2 (NC2).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCATCATAATTCACCATGTCT	0.453																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(4303-4305)AAT>CAT		alpha 1 type XVI collagen precursor							224.0	209.0	213.0					1																	32120447		1900	4121	6021	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32120447T>G	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4303A>C	1.37:g.32120447T>G	ENSP00000362776:p.Asn1435His					COL16A1_uc001bti.1_Missense_Mutation_p.N49H|COL16A1_uc001btj.1_Missense_Mutation_p.N1233H	p.N1435H	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	68	4668	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1435			Nonhelical region 2 (NC2).		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.4303A>C	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254132	0.59212	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.90385	-2.64;-2.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.71036	2.16	0.46478	D	0.999066	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.94242	0.7486	10	0.46703	T	0.11	.	15.1304	0.72517	0.0:0.0:0.0:1.0	.	1435;1433	Q07092;Q07092-2	COGA1_HUMAN;.	H	1435	ENSP00000362776:N1435H;ENSP00000271069:N1435H	ENSP00000271069:N1435H	N	-	1	0	COL16A1	31893034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.595000	0.67563	2.279000	0.76181	0.533000	0.62120	AAT		0.453	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		29	134	0	0	0	0.00632	0	29	134				
NDUFS5	4725	broad.mit.edu	37	1	39494495	39494495	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:39494495C>G	ENST00000372969.3	+	2	186	c.99C>G	c.(97-99)tgC>tgG	p.C33W	NDUFS5_ENST00000372967.3_Missense_Mutation_p.C33W	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	33					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.C33C(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			CTGGTCGATGCCATGCTTTTG	0.438																																							uc001ccx.2		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(97-99)TGC>TGG		NADH dehydrogenase (ubiquinone) Fe-S protein 5,	NADH(DB00157)						117.0	110.0	112.0					1																	39494495		2203	4300	6503	SO:0001583	missense	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39494495C>G	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.99C>G	1.37:g.39494495C>G	ENSP00000362060:p.Cys33Trp					NDUFS5_uc001ccy.2_Missense_Mutation_p.C33W	p.C33W	NM_004552	NP_004543	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		2	170	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	33			C-X9-C motif 1.			Missense_Mutation	SNP	ENST00000372969.3	37	c.99C>G	CCDS434.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468947	0.63625	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	D;D	0.83163	-1.69;-1.69	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	M	0.87682	2.9	0.80722	D	1	B	0.22003	0.063	B	0.24541	0.054	D	0.84113	0.0402	10	0.62326	D	0.03	-10.741	17.5892	0.87991	0.0:1.0:0.0:0.0	.	33	O43920	NDUS5_HUMAN	W	33	ENSP00000362060:C33W;ENSP00000362058:C33W	ENSP00000362058:C33W	C	+	3	2	NDUFS5	39267082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.651000	0.74372	2.767000	0.95098	0.655000	0.94253	TGC		0.438	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		20	53	0	0	0	0.008871	0	20	53				
MED8	112950	broad.mit.edu	37	1	43851674	43851674	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:43851674T>C	ENST00000372457.4	-	6	760	c.717A>G	c.(715-717)gtA>gtG	p.V239V	RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_Silent_p.V150V|MED8_ENST00000290663.6_Silent_p.V239V	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	239					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCCATTTGTACCCCACTGA	0.562																																							uc001cjg.3		NA																	0					0						c.(715-717)GTA>GTG		mediator complex subunit 8 isoform 1							204.0	202.0	203.0					1																	43851674		2203	4300	6503	SO:0001819	synonymous_variant	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43851674T>C	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.717A>G	1.37:g.43851674T>C						MED8_uc001cje.1_Silent_p.V239V|MED8_uc001cjf.3_Silent_p.V150V	p.V239V	NM_201542	NP_963836	Q96G25	MED8_HUMAN			6	765	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	239					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Silent	SNP	ENST00000372457.4	37	c.717A>G	CCDS487.2																																																																																				0.562	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		56	203	0	0	0	0.00361	0	56	203				
PTPRF	5792	broad.mit.edu	37	1	44071069	44071069	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:44071069G>A	ENST00000359947.4	+	18	3684	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1106H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1106H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R463H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1115H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1115					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGACGGCCGCTTCGATCTC	0.662																																							uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3343-3345)CGC>CAC		protein tyrosine phosphatase, receptor type, F							65.0	66.0	66.0					1																	44071069		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071069G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3344G>A	1.37:g.44071069G>A	ENSP00000353030:p.Arg1115His					PTPRF_uc001cjs.2_Missense_Mutation_p.R1106H|PTPRF_uc001cju.2_Missense_Mutation_p.R493H|PTPRF_uc009vwt.2_Missense_Mutation_p.R675H|PTPRF_uc001cjv.2_Missense_Mutation_p.R575H|PTPRF_uc001cjw.2_Missense_Mutation_p.R341H	p.R1115H	NM_002840	NP_002831	P10586	PTPRF_HUMAN			18	3684	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1115			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3344G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022679|2.022679	0.35701|0.35701	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.55760	.|0.5;0.52;0.5;0.52;2.4;4.12	5.31|5.31	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.33382	.|N	.|0.004970	T|T	0.39462|0.39462	0.1079|0.1079	L|L	0.36672|0.36672	1.1|1.1	0.25807|0.25807	N|N	0.984442|0.984442	.|B;B;B;B;B	.|0.18863	.|0.008;0.003;0.031;0.003;0.028	.|B;B;B;B;B	.|0.12156	.|0.006;0.001;0.006;0.001;0.007	T|T	0.28235|0.28235	-1.0050|-1.0050	5|10	.|0.42905	.|T	.|0.14	.|.	8.4277|8.4277	0.32739|0.32739	0.298:0.0:0.702:0.0|0.298:0.0:0.702:0.0	.|.	.|760;463;681;1106;1115	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	761|1115;1106;1115;1106;463;176	.|ENSP00000353030:R1115H;ENSP00000398822:R1106H;ENSP00000361491:R1115H;ENSP00000361490:R1106H;ENSP00000387885:R463H;ENSP00000361484:R176H	.|ENSP00000353030:R1115H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43843656|43843656	0.884000|0.884000	0.30299|0.30299	0.665000|0.665000	0.29768|0.29768	0.148000|0.148000	0.21650|0.21650	1.774000|1.774000	0.38573|0.38573	0.764000|0.764000	0.33197|0.33197	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.662	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			22	27	0	0	0	0.004656	0	22	27				
LRRC41	10489	broad.mit.edu	37	1	46752036	46752036	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:46752036G>T	ENST00000343304.6	-	4	778	c.493C>A	c.(493-495)Cga>Aga	p.R165R	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	165					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGAGCTGTCGGACATGGCGG	0.567																																							uc001cpn.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(493-495)CGA>AGA		MUF1 protein							61.0	63.0	63.0					1																	46752036		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46752036G>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.493C>A	1.37:g.46752036G>T						LRRC41_uc010omb.1_Silent_p.R165R|LRRC41_uc001cpo.1_Silent_p.R165R	p.R165R	NM_006369	NP_006360	Q15345	LRC41_HUMAN			4	537	-	Acute lymphoblastic leukemia(166;0.155)		165					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.493C>A	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		8	47	1	0	5.4927e-09	0.004482	6.42192e-09	8	47				
TMEM59	9528	broad.mit.edu	37	1	54497896	54497896	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:54497896C>G	ENST00000234831.5	-	8	1148	c.899G>C	c.(898-900)aGa>aCa	p.R300T	TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371348.1_Missense_Mutation_p.R169T|TMEM59_ENST00000371341.1_Missense_Mutation_p.R169T|TMEM59_ENST00000371344.1_Missense_Mutation_p.R169T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	300					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGTTTTAGATCTAACAACCAC	0.348																																							uc001cwp.2		NA																	0					0						c.(898-900)AGA>ACA		thymic dendritic cell-derived factor 1							87.0	87.0	87.0					1																	54497896		2202	4300	6502	SO:0001583	missense	9528					Golgi membrane|integral to membrane		g.chr1:54497896C>G	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.899G>C	1.37:g.54497896C>G	ENSP00000234831:p.Arg300Thr					TMEM59_uc001cwn.2_Missense_Mutation_p.R164T|TMEM59_uc001cwo.2_Missense_Mutation_p.R163T|TMEM59_uc001cwq.2_Missense_Mutation_p.R301T|TMEM59_uc001cwr.2_Missense_Mutation_p.R233T	p.R300T	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN			8	1149	-			300			Cytoplasmic (Potential).		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	c.899G>C	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	7.221	0.597409	0.13875	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341	T	0.41065	1.01	5.16	1.06	0.20224	.	0.320139	0.33834	N	0.004510	T	0.27313	0.0670	L	0.40543	1.245	0.46954	D	0.999264	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.10314	-1.0635	10	0.09084	T	0.74	.	9.6021	0.39609	0.0:0.5816:0.0:0.4184	.	301;300	D3DQ48;Q9BXS4	.;TMM59_HUMAN	T	169;169;300;169	ENSP00000234831:R300T	ENSP00000234831:R300T	R	-	2	0	TMEM59	54270484	0.983000	0.35010	0.918000	0.36340	0.979000	0.70002	1.396000	0.34531	0.321000	0.23259	-0.157000	0.13467	AGA		0.348	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		10	21	0	0	0	0.006214	0	10	21				
USP1	7398	broad.mit.edu	37	1	62907238	62907238	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:62907238A>G	ENST00000339950.4	+	3	1065	c.250A>G	c.(250-252)Aat>Gat	p.N84D	USP1_ENST00000371146.1_Missense_Mutation_p.N84D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	84	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGTGGGACTGAATAATCTCGG	0.348																																					Ovarian(122;1846 2315 3982 19504)	Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	0				ovary(1)	1						c.(250-252)AAT>GAT		ubiquitin specific protease 1							125.0	126.0	126.0					1																	62907238		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62907238A>G		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.250A>G	1.37:g.62907238A>G	ENSP00000343526:p.Asn84Asp					USP1_uc001dak.1_Missense_Mutation_p.N84D|USP1_uc001dal.1_Missense_Mutation_p.N84D	p.N84D	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	3	578	+		all_neural(321;0.0281)	84					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.250A>G	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	32	5.127136	0.94429	.	.	ENSG00000162607	ENST00000452143;ENST00000442679;ENST00000371146;ENST00000339950	T;T;T	0.31247	1.5;1.5;1.5	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.18745	-1.0327	10	0.30854	T	0.27	-22.8332	16.0282	0.80558	1.0:0.0:0.0:0.0	.	84	O94782	UBP1_HUMAN	D	84	ENSP00000403662:N84D;ENSP00000360188:N84D;ENSP00000343526:N84D	ENSP00000343526:N84D	N	+	1	0	USP1	62679826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.719000	0.91436	2.323000	0.78572	0.528000	0.53228	AAT		0.348	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		11	41	0	0	0	0.000978	0	11	41				
IL23R	149233	broad.mit.edu	37	1	67648610	67648610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:67648610C>A	ENST00000347310.5	+	4	630	c.459C>A	c.(457-459)taC>taA	p.Y153*	IL23R_ENST00000371002.1_Nonsense_Mutation_p.Y153*|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	153	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTCACCTACATAGACACAA	0.473																																							uc001ddo.2		NA																	0					0						c.(457-459)TAC>TAA		interleukin 23 receptor precursor							130.0	119.0	123.0					1																	67648610		2203	4300	6503	SO:0001587	stop_gained	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67648610C>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.459C>A	1.37:g.67648610C>A	ENSP00000321345:p.Tyr153*					IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Nonsense_Mutation_p.Y110*|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Intron|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_5'UTR|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Nonsense_Mutation_p.Y12*|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR	p.Y153*	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			4	544	+			153			Extracellular (Potential).|Fibronectin type-III 1.		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Nonsense_Mutation	SNP	ENST00000347310.5	37	c.459C>A	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717131	0.96839	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000540775;ENST00000543799	.	.	.	5.24	4.33	0.51752	.	0.300590	0.32719	N	0.005740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8061	9.7957	0.40733	0.0:0.9051:0.0:0.0949	.	.	.	.	X	153;12;12;12;12;153;108;108	.	ENSP00000321345:Y153X	Y	+	3	2	IL23R	67421198	0.559000	0.26562	0.983000	0.44433	0.571000	0.35966	0.804000	0.27098	1.218000	0.43458	0.563000	0.77884	TAC		0.473	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		19	70	1	0	5.3912e-06	0.006122	5.9351e-06	19	70				
SRSF11	9295	broad.mit.edu	37	1	70715732	70715732	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:70715732T>C	ENST00000370950.3	+	11	1200		c.e11+2		SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						CCCTAGGAGGTAAGAATGTTA	0.373																																							uc001des.2		NA																	0					0						c.e11+2		splicing factor, arginine/serine-rich 11							61.0	64.0	63.0					1																	70715732		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70715732T>C	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1118+2T>C	1.37:g.70715732T>C						SFRS11_uc001det.2_Splice_Site_p.R373_splice|SFRS11_uc001deu.2_Splice_Site_p.R380_splice|SFRS11_uc001dev.2_Splice_Site_p.R183_splice|SFRS11_uc001dew.2_Splice_Site_p.R313_splice	p.R373_splice	NM_004768	NP_004759	Q05519	SRS11_HUMAN			11	1242	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37	c.1118_splice	CCDS647.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981475	0.34942	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	.	.	.	5.35	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0718	0.48008	0.0:0.0741:0.0:0.9259	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70488320	1.000000	0.71417	0.990000	0.47175	0.435000	0.31806	6.821000	0.75272	0.981000	0.38548	-0.256000	0.11100	.		0.373	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	3	25	0	0	0	0.004672	0	3	25				
LPHN2	23266	broad.mit.edu	37	1	82409430	82409430	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:82409430T>C	ENST00000370728.1	+	8	1820	c.1175T>C	c.(1174-1176)tTt>tCt	p.F392S	LPHN2_ENST00000359929.3_Missense_Mutation_p.F392S|LPHN2_ENST00000370713.1_Missense_Mutation_p.F392S|LPHN2_ENST00000394879.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370727.1_Missense_Mutation_p.F392S|LPHN2_ENST00000271029.4_Missense_Mutation_p.F392S|LPHN2_ENST00000370717.2_Missense_Mutation_p.F392S|LPHN2_ENST00000335786.5_Missense_Mutation_p.F392S|LPHN2_ENST00000370723.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370721.1_Missense_Mutation_p.F396S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.F392S|LPHN2_ENST00000370725.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370730.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370715.1_Missense_Mutation_p.F392S			O95490	LPHN2_HUMAN	latrophilin 2	392	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTCTGGAGTTTGGTCCACCT	0.358																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1174-1176)TTT>TCT		latrophilin 2 precursor							91.0	86.0	88.0					1																	82409430		2202	4299	6501	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409430T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1175T>C	1.37:g.82409430T>C	ENSP00000359763:p.Phe392Ser					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F392S|LPHN2_uc001div.2_Missense_Mutation_p.F392S|LPHN2_uc009wcd.2_Missense_Mutation_p.F392S	p.F392S	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1356	+			392			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1175T>C		.	.	.	.	.	.	.	.	.	.	T	28.0	4.883791	0.91814	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96844	0.9620	10	0.87932	D	0	.	15.9124	0.79482	0.0:0.0:0.0:1.0	.	392;392;392	O95490-3;O95490-4;O95490-2	.;.;.	S	396;392;392;392;392;392;392;392;392;392;392;392;392;392	ENSP00000359756:F396S;ENSP00000359763:F392S;ENSP00000359765:F392S;ENSP00000359762:F392S;ENSP00000359760:F392S;ENSP00000359758:F392S;ENSP00000353006:F392S;ENSP00000359750:F392S;ENSP00000359748:F392S;ENSP00000322270:F392S;ENSP00000359752:F392S;ENSP00000378344:F392S;ENSP00000271029:F392S;ENSP00000337306:F392S	ENSP00000271029:F392S	F	+	2	0	LPHN2	82182018	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.632000	0.83247	2.148000	0.66965	0.528000	0.53228	TTT		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		19	57	0	0	0	0.001882	0	19	57				
GBP6	163351	broad.mit.edu	37	1	89844084	89844084	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:89844084A>T	ENST00000370456.4	+	5	630	c.537A>T	c.(535-537)acA>acT	p.T179T	GBP6_ENST00000535065.1_Silent_p.T49T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	179	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTCTTTGGACAGTACGGGATT	0.458																																							uc001dnf.2		NA																	0				ovary(2)	2						c.(535-537)ACA>ACT		guanylate binding protein family, member 6							127.0	134.0	132.0					1																	89844084		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89844084A>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.537A>T	1.37:g.89844084A>T						GBP6_uc010ost.1_Silent_p.T49T	p.T179T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	5	811	+		Lung NSC(277;0.0908)	179					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.537A>T	CCDS723.1																																																																																				0.458	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		28	56	0	0	0	0.007291	0	28	56				
MTF2	22823	broad.mit.edu	37	1	93602423	93602423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:93602423C>T	ENST00000370298.4	+	15	1910	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	MTF2_ENST00000545708.1_Nonsense_Mutation_p.Q439*|MTF2_ENST00000370303.4_Nonsense_Mutation_p.Q484*|MTF2_ENST00000540243.1_Nonsense_Mutation_p.Q439*|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	541					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTAGCAGATCAGGAGTTACA	0.388																																							uc009wdj.2		NA																	0				ovary(2)	2						c.(1621-1623)CAG>TAG		metal response element binding transcription							109.0	105.0	106.0					1																	93602423		2203	4300	6503	SO:0001587	stop_gained	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602423C>T	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1621C>T	1.37:g.93602423C>T	ENSP00000359321:p.Gln541*					MTF2_uc010oth.1_Nonsense_Mutation_p.Q439*|MTF2_uc009wdk.2_Nonsense_Mutation_p.Q484*|MTF2_uc001dpi.3_Nonsense_Mutation_p.Q268*|MTF2_uc010oti.1_Nonsense_Mutation_p.Q439*|MTF2_uc001dpj.3_Nonsense_Mutation_p.Q439*|MTF2_uc001dpl.3_Nonsense_Mutation_p.Q439*|MTF2_uc001dpm.3_Nonsense_Mutation_p.Q210*	p.Q541*	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	1913	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	541					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Nonsense_Mutation	SNP	ENST00000370298.4	37	c.1621C>T	CCDS742.1	.	.	.	.	.	.	.	.	.	.	C	37	6.273558	0.97431	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	.	.	.	6.02	6.02	0.97574	.	0.053773	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-4.4322	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	439;439;541;484	.	ENSP00000359321:Q541X	Q	+	1	0	MTF2	93375011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.268000	0.58883	2.865000	0.98341	0.655000	0.94253	CAG		0.388	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		18	67	0	0	0	0.007413	0	18	67				
PLPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCGTCCACTGAAGGTGAAGG	0.537																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1918-1920)GAA>AAA		plasticity related gene 1							76.0	75.0	75.0					1																	99772192		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772192G>A																												ENST00000370185.3:c.1918G>A	1.37:g.99772192G>A	ENSP00000359204:p.Glu640Lys					LPPR4_uc010oue.1_Missense_Mutation_p.E582K	p.E640K	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2024	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	640					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1918G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954207	0.73902	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.46;2.47;1.89	5.9	5.9	0.94986	.	0.206543	0.43919	D	0.000519	T	0.13670	0.0331	N	0.22421	0.69	0.80722	D	1	P;P	0.37500	0.597;0.462	B;B	0.40285	0.325;0.121	T	0.05750	-1.0866	9	.	.	.	-29.4613	20.2822	0.98520	0.0:0.0:1.0:0.0	.	582;640	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	640;582;482	ENSP00000359204:E640K;ENSP00000394913:E582K;ENSP00000359203:E482K	.	E	+	1	0	RP4-788L13.1	99544780	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	6.669000	0.74462	2.806000	0.96561	0.655000	0.94253	GAA		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			17	38	0	0	0	0.00499	0	17	38				
HIAT1	64645	broad.mit.edu	37	1	100542725	100542725	+	Missense_Mutation	SNP	T	T	A	rs376237874		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:100542725T>A	ENST00000370152.3	+	9	1032	c.896T>A	c.(895-897)aTa>aAa	p.I299K	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	299					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTCAGACCATAGTCTTGAGT	0.303																																							uc001dst.2		NA																	0					0						c.(895-897)ATA>AAA		hippocampus abundant transcript 1							64.0	66.0	65.0					1																	100542725		2203	4297	6500	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100542725T>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.896T>A	1.37:g.100542725T>A	ENSP00000359171:p.Ile299Lys						p.I299K	NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	9	896	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	299			Helical; Name=8; (Potential).		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.896T>A	CCDS763.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092142	0.55968	.	.	ENSG00000156875	ENST00000370152	T	0.80033	-1.33	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.076271	0.64402	D	0.000010	T	0.61515	0.2353	L	0.29908	0.895	0.80722	D	1	B	0.19935	0.04	B	0.25759	0.063	T	0.61113	-0.7128	10	0.33940	T	0.23	-5.7663	15.4362	0.75149	0.0:0.0:0.0:1.0	.	299	Q96MC6	HIAT1_HUMAN	K	299	ENSP00000359171:I299K	ENSP00000359171:I299K	I	+	2	0	HIAT1	100315313	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.040000	0.89188	2.036000	0.60181	0.459000	0.35465	ATA		0.303	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		7	21	0	0	0	0.006214	0	7	21				
COL11A1	1301	broad.mit.edu	37	1	103385907	103385907	+	Missense_Mutation	SNP	G	G	T	rs151195708		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:103385907G>T	ENST00000370096.3	-	49	4034	c.3722C>A	c.(3721-3723)cCc>cAc	p.P1241H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1125H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1202H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1253H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCCTGGGGGTCCTTGTGG	0.353																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3721-3723)CCC>CAC		alpha 1 type XI collagen isoform A							141.0	152.0	148.0					1																	103385907		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103385907G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3722C>A	1.37:g.103385907G>T	ENSP00000359114:p.Pro1241His					COL11A1_uc001duk.2_Missense_Mutation_p.P437H|COL11A1_uc001dum.2_Missense_Mutation_p.P1253H|COL11A1_uc001dun.2_Missense_Mutation_p.P1202H|COL11A1_uc009weh.2_Missense_Mutation_p.P1125H	p.P1241H	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	49	4040	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1241			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3722C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886573	0.72410	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	M	0.82433	2.59	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.677;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.996;0.5;0.999;0.998;0.997	D	0.98241	1.0488	10	0.62326	D	0.03	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	1125;1202;1253;1241;461	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1241;1253;1202;461;1125	ENSP00000359114:P1241H;ENSP00000351163:P1253H;ENSP00000302551:P1202H;ENSP00000426533:P1125H	ENSP00000302551:P1202H	P	-	2	0	COL11A1	103158495	1.000000	0.71417	0.968000	0.41197	0.951000	0.60555	7.256000	0.78350	2.880000	0.98712	0.650000	0.86243	CCC		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		30	102	1	0	5.60225e-13	0.009535	6.88656e-13	30	102				
SORT1	6272	broad.mit.edu	37	1	109884687	109884687	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:109884687T>C	ENST00000256637.6	-	9	1115	c.1057A>G	c.(1057-1059)Att>Gtt	p.I353V	SORT1_ENST00000538502.1_Missense_Mutation_p.I216V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	353					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GCTGCCAGAATAGAATAGAAC	0.453																																							uc001dxm.1		NA																	0				ovary(1)	1						c.(1057-1059)ATT>GTT		sortilin 1 preproprotein							153.0	136.0	142.0					1																	109884687		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109884687T>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1057A>G	1.37:g.109884687T>C	ENSP00000256637:p.Ile353Val					SORT1_uc010ovi.1_Missense_Mutation_p.I216V	p.I353V	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	9	1106	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	353			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1057A>G	CCDS798.1	.	.	.	.	.	.	.	.	.	.	t	15.96	2.987710	0.53934	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.25912	1.77;1.77	6.01	6.01	0.97437	VPS10 (1);	0.107097	0.64402	D	0.000004	T	0.08582	0.0213	L	0.28458	0.855	0.45852	D	0.998716	B;B	0.28900	0.2;0.227	B;B	0.33295	0.161;0.106	T	0.15292	-1.0442	10	0.13853	T	0.58	-14.6198	9.9429	0.41591	0.0:0.0762:0.0:0.9238	.	216;353	B4DWI3;Q99523	.;SORT_HUMAN	V	353;216	ENSP00000256637:I353V;ENSP00000438597:I216V	ENSP00000256637:I353V	I	-	1	0	SORT1	109686210	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	4.261000	0.58841	2.310000	0.77875	0.449000	0.29647	ATT		0.453	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		38	105	0	0	0	0.004878	0	38	105				
GSTM2	2946	broad.mit.edu	37	1	110213909	110213909	+	Splice_Site	SNP	G	G	A	rs548917973		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:110213909G>A	ENST00000241337.4	+	6	411	c.361G>A	c.(361-363)Gag>Aag	p.E121K	GSTM2_ENST00000369827.3_Splice_Site_p.E119K|GSTM2_ENST00000442650.1_Splice_Site_p.E121K|GSTM2_ENST00000369831.2_Splice_Site_p.E121K|GSTM2_ENST00000460717.3_Splice_Site_p.E121K|GSTM2_ENST00000369829.2_Splice_Site_p.E121K|GSTM2_ENST00000414179.2_Splice_Site_p.E17K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	121	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TCTGCCTCAGGAGAAACTGAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.001						uc001dyi.2		NA																	0					0						c.(361-363)GAG>AAG		glutathione S-transferase mu 2 isoform 1	Glutathione(DB00143)						81.0	79.0	79.0					1																	110213909		2203	4300	6503	SO:0001630	splice_region_variant	2946				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity	g.chr1:110213909G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.361-1G>A	1.37:g.110213909G>A						GSTM2_uc001dyj.2_Missense_Mutation_p.E121K|GSTM2_uc010ovt.1_Missense_Mutation_p.E121K|GSTM2_uc009wfk.2_RNA	p.E121K	NM_000848	NP_000839	P28161	GSTM2_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	6	675	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	121			GST C-terminal.		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.361G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506737	0.85282	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69;3.69;3.69	3.06	3.06	0.35304	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.31415	U	0.007681	T	0.10551	0.0258	H	0.97315	3.98	0.80722	D	1	B;B;B	0.33022	0.394;0.057;0.086	B;B;B	0.38296	0.27;0.069;0.047	T	0.00626	-1.1638	10	0.66056	D	0.02	.	11.4004	0.49866	0.0:0.0:1.0:0.0	.	121;121;121	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	121;119;121;121;17;121;121	ENSP00000416883:E121K;ENSP00000358842:E119K;ENSP00000358846:E121K;ENSP00000435910:E121K;ENSP00000404662:E17K;ENSP00000358844:E121K;ENSP00000241337:E121K	ENSP00000241337:E121K	E	+	1	0	GSTM2	110015432	1.000000	0.71417	0.870000	0.34147	0.490000	0.33462	6.329000	0.72920	1.695000	0.51148	0.484000	0.47621	GAG		0.547	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848	Missense_Mutation	9	67	0	0	0	0.008291	0	9	67				
GSTM1	2944	broad.mit.edu	37	1	110231320	110231320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:110231320G>A	ENST00000309851.5	+	3	192	c.138G>A	c.(136-138)tgG>tgA	p.W46*	GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_3'UTR|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369823.2_Nonsense_Mutation_p.W46*|GSTM1_ENST00000483399.2_Nonsense_Mutation_p.W46*|GSTM1_ENST00000369819.2_Nonsense_Mutation_p.W46*|GSTM1_ENST00000349334.3_Nonsense_Mutation_p.W46*	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	46	GST N-terminal.|Glutathione binding.				cellular detoxification of nitrogen compound (GO:0070458)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Azathioprine(DB00993)|Busulfan(DB01008)|Carboplatin(DB00958)|Cisplatin(DB00515)|Glutathione(DB00143)|Oxaliplatin(DB00526)	GAAGCCAGTGGCTGAATGAAA	0.562									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																														uc001dyk.2		NA																	0					0						c.(136-138)TGG>TGA		glutathione S-transferase mu 1 isoform 1	Glutathione(DB00143)						33.0	29.0	31.0					1																	110231320		1615	2206	3821	SO:0001587	stop_gained	2944	Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer; ;AIMAH, Cushing disease, Adrenal, Familial	xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr1:110231320G>A	BC036805	CCDS809.1, CCDS810.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134184	ENSG00000134184	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4632	protein-coding gene	gene with protein product		138350	"""glutathione S-transferase M1"""	GST1			Standard	NM_000561		Approved	MU, H-B	uc001dyk.3	P09488	OTTHUMG00000011635	ENST00000309851.5:c.138G>A	1.37:g.110231320G>A	ENSP00000311469:p.Trp46*					GSTM1_uc001dyl.2_Nonsense_Mutation_p.W46*	p.W46*	NM_000561	NP_000552	P09488	GSTM1_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	216	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	46			GST N-terminal.|Glutathione binding.		Q5GHG0|Q6FH88|Q8TC98|Q9UC96	Nonsense_Mutation	SNP	ENST00000309851.5	37	c.138G>A	CCDS809.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697801	0.68386	.	.	ENSG00000134184	ENST00000369823;ENST00000349334;ENST00000309851;ENST00000369819	.	.	.	3.48	3.48	0.39840	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7331	0.46109	0.0:0.0:1.0:0.0	.	.	.	.	X	46	.	ENSP00000311469:W46X	W	+	3	0	GSTM1	110032843	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.127000	0.71642	1.946000	0.56461	0.306000	0.20318	TGG		0.562	GSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032151.2	NM_000561		20	16	0	0	0	0.009535	0	20	16				
PHTF1	10745	broad.mit.edu	37	1	114249340	114249340	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:114249340T>A	ENST00000369604.1	-	12	1757	c.1274A>T	c.(1273-1275)cAt>cTt	p.H425L	PHTF1_ENST00000369600.1_Missense_Mutation_p.H372L|PHTF1_ENST00000357783.2_Missense_Mutation_p.H425L|PHTF1_ENST00000393357.2_Missense_Mutation_p.H425L|PHTF1_ENST00000369596.2_Missense_Mutation_p.H372L|PHTF1_ENST00000369598.1_Missense_Mutation_p.H380L|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	425					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGAATAAATGATTCTGAGA	0.383																																							uc009wgp.1		NA																	0				ovary(1)	1						c.(1273-1275)CAT>CTT		putative homeodomain transcription factor 1							82.0	80.0	80.0					1																	114249340		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114249340T>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1274A>T	1.37:g.114249340T>A	ENSP00000358617:p.His425Leu					PHTF1_uc001edn.2_Missense_Mutation_p.H425L|PHTF1_uc001edm.2_Missense_Mutation_p.H182L|PHTF1_uc001edo.1_Missense_Mutation_p.H182L	p.H425L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1726	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	425					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1274A>T	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.457445|4.457445	0.84317|0.84317	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.051173|.	0.85682|.	D|.	0.000000|.	T|T	0.63885|0.63885	0.2549|0.2549	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.968;0.998;0.991|.	P;D;D|.	0.66351|.	0.663;0.943;0.921|.	T|T	0.64041|0.64041	-0.6500|-0.6500	9|5	0.26408|.	T|.	0.33|.	-17.6457|-17.6457	15.809|15.809	0.78543|0.78543	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	425;180;425|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	L|F	380;425;372;380;372;425;425|181	.|.	ENSP00000350428:H425L|.	H|I	-|-	2|1	0|0	PHTF1|PHTF1	114050863|114050863	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.008000|8.008000	0.88588|0.88588	2.193000|2.193000	0.70182|0.70182	0.477000|0.477000	0.44152|0.44152	CAT|ATT		0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		12	54	0	0	0	0.000978	0	12	54				
NGF	4803	broad.mit.edu	37	1	115829316	115829316	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:115829316T>C	ENST00000369512.2	-	3	269	c.101A>G	c.(100-102)cAa>cGa	p.Q34R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	34					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCAGTGGGCTTGGGGGATGGT	0.592																																							uc001efu.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(100-102)CAA>CGA		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)						115.0	91.0	99.0					1																	115829316		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829316T>C		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.101A>G	1.37:g.115829316T>C	ENSP00000358525:p.Gln34Arg						p.Q34R	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	270	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	34					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.101A>G	CCDS882.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854282	0.32791	.	.	ENSG00000134259	ENST00000369512	T	0.61627	0.09	5.36	2.98	0.34508	.	0.794980	0.11733	N	0.534721	T	0.27866	0.0686	L	0.55990	1.75	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.30446	-0.9978	10	0.46703	T	0.11	-0.0981	4.6081	0.12387	0.1435:0.1599:0.0:0.6966	.	34	P01138	NGF_HUMAN	R	34	ENSP00000358525:Q34R	ENSP00000358525:Q34R	Q	-	2	0	NGF	115630839	0.397000	0.25270	0.601000	0.28877	0.983000	0.72400	0.350000	0.20079	0.316000	0.23135	0.383000	0.25322	CAA		0.592	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		15	65	0	0	0	0.003163	0	15	65				
TTF2	8458	broad.mit.edu	37	1	117622224	117622224	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:117622224C>A	ENST00000369466.4	+	9	1780	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	579					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGCATTGGCTTGGTTACTA	0.443																																							uc001egy.2		NA																	0				ovary(1)	1						c.(1735-1737)GCT>GAT		transcription termination factor, RNA polymerase							119.0	113.0	115.0					1																	117622224		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117622224C>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1736C>A	1.37:g.117622224C>A	ENSP00000358478:p.Ala579Asp					TTF2_uc001egx.1_Missense_Mutation_p.A579D	p.A579D	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	9	1756	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	579					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1736C>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767571	0.90020	.	.	ENSG00000116830	ENST00000369466	D	0.93604	-3.25	5.33	5.33	0.75918	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.39341	N	0.001393	D	0.95796	0.8632	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.95749	0.8790	10	0.56958	D	0.05	-17.3384	16.4953	0.84238	0.0:1.0:0.0:0.0	.	579;579	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	D	579	ENSP00000358478:A579D	ENSP00000358478:A579D	A	+	2	0	TTF2	117423747	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.273000	0.78527	2.497000	0.84241	0.462000	0.41574	GCT		0.443	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			18	43	1	0	2.37509e-13	0.010504	2.94578e-13	18	43				
SPAG17	200162	broad.mit.edu	37	1	118548157	118548157	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:118548157T>C	ENST00000336338.5	-	32	4721	c.4656A>G	c.(4654-4656)tcA>tcG	p.S1552S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1552						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTACTGCTTGACTCATGGC	0.418																																							uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4654-4656)TCA>TCG		sperm associated antigen 17							98.0	95.0	96.0					1																	118548157		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548157T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4656A>G	1.37:g.118548157T>C							p.S1552S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4724	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1552					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4656A>G	CCDS899.1																																																																																				0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	57	0	0	0	0.000602	0	5	57				
TBX15	6913	broad.mit.edu	37	1	119427471	119427471	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:119427471T>G	ENST00000369429.3	-	8	1702	c.1693A>C	c.(1693-1695)Agc>Cgc	p.S565R	TBX15_ENST00000207157.3_Missense_Mutation_p.S459R			Q96SF7	TBX15_HUMAN	T-box 15	565					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ATGTGCATGCTGTGCTCCATC	0.552																																							uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1375-1377)AGC>CGC		T-box 15							92.0	84.0	86.0					1																	119427471		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427471T>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1693A>C	1.37:g.119427471T>G	ENSP00000358437:p.Ser565Arg					TBX15_uc009whj.1_Missense_Mutation_p.S283R	p.S459R	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1690	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	565					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1375A>C		.	.	.	.	.	.	.	.	.	.	T	13.16	2.153439	0.38021	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.88431	-2.38;-2.26;-1.22	5.31	-2.5	0.06384	.	0.432971	0.27802	N	0.017799	T	0.61912	0.2385	N	0.08118	0	0.34288	D	0.682875	B;B	0.27765	0.188;0.134	B;B	0.25405	0.055;0.06	T	0.44952	-0.9294	10	0.66056	D	0.02	.	12.3927	0.55368	0.0:0.7057:0.0:0.2943	.	362;565	E9PCG3;Q96SF7	.;TBX15_HUMAN	R	362;459;565;293	ENSP00000207157:S459R;ENSP00000358437:S565R;ENSP00000398625:S293R	ENSP00000207157:S459R	S	-	1	0	TBX15	119228994	0.465000	0.25815	0.990000	0.47175	0.987000	0.75469	0.096000	0.15147	-0.324000	0.08589	-0.379000	0.06801	AGC		0.552	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		26	77	0	0	0	0.005443	0	26	77				
NOTCH2	4853	broad.mit.edu	37	1	120480031	120480031	+	Silent	SNP	C	C	T	rs140630687		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:120480031C>T	ENST00000256646.2	-	21	3615	c.3396G>A	c.(3394-3396)acG>acA	p.T1132T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1132	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGTAATGCGTGTTGCCAG	0.542			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(3394-3396)ACG>ACA		notch 2 preproprotein							80.0	67.0	71.0					1																	120480031		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120480031C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3396G>A	1.37:g.120480031C>T						NOTCH2_uc001eil.2_Silent_p.T1132T	p.T1132T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3652	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1132			EGF-like 29.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.3396G>A	CCDS908.1																																																																																				0.542	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		16	71	0	0	0	0.003163	0	16	71				
TXNIP	10628	broad.mit.edu	37	1	145440510	145440510	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:145440510T>C	ENST00000369317.4	+	5	1150	c.816T>C	c.(814-816)gtT>gtC	p.V272V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	272					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTCGAGTTGAATATTCCT	0.483																																							uc001enn.3		NA																	0				ovary(2)	2						c.(814-816)GTT>GTC		thioredoxin interacting protein							109.0	110.0	110.0					1																	145440510		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440510T>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.816T>C	1.37:g.145440510T>C						NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V217V	p.V272V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	1157	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		272					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.816T>C	CCDS913.1																																																																																				0.483	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		29	156	0	0	0	0.002096	0	29	156				
CIART	148523	broad.mit.edu	37	1	150255915	150255915	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150255915C>T	ENST00000290363.5	+	1	687	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_5'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.P80S	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		80					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCATCTCATCCGAAACAGCG	0.562																																							uc001euh.2		NA																	0					0						c.(238-240)CCG>TCG		hypothetical protein LOC148523							138.0	135.0	136.0					1																	150255915		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150255915C>T																												ENST00000290363.5:c.238C>T	1.37:g.150255915C>T	ENSP00000290363:p.Pro80Ser					C1orf51_uc001eui.2_5'UTR|C1orf51_uc001euj.2_Missense_Mutation_p.P80S	p.P80S	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	374	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		80					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.238C>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480459	0.12581	.	.	ENSG00000159208	ENST00000369095;ENST00000290363	.	.	.	4.7	1.71	0.24356	.	1.099200	0.06792	N	0.787256	T	0.03348	0.0097	N	0.00926	-1.1	0.19300	N	0.99998	B	0.09022	0.002	B	0.10450	0.005	T	0.40794	-0.9544	9	0.12103	T	0.63	1.6571	7.8117	0.29234	0.0:0.7642:0.0:0.2358	.	80	Q8N365	CA051_HUMAN	S	80	.	ENSP00000290363:P80S	P	+	1	0	C1orf51	148522539	0.320000	0.24616	0.918000	0.36340	0.898000	0.52572	0.704000	0.25661	0.164000	0.19529	0.655000	0.94253	CCG		0.562	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			27	255	0	0	0	0.002096	0	27	255				
ANXA9	8416	broad.mit.edu	37	1	150958830	150958830	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150958830T>C	ENST00000368947.4	+	8	967	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	164					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGAGGCTGTGGATGACATC	0.562																																							uc001ewa.2		NA																	0					0						c.(490-492)GTG>GCG		annexin A9							77.0	68.0	71.0					1																	150958830		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150958830T>C	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.491T>C	1.37:g.150958830T>C	ENSP00000357943:p.Val164Ala						p.V164A	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	961	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		164			Annexin 2.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.491T>C	CCDS975.2	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553538	0.13374	.	.	ENSG00000143412	ENST00000368947	T	0.03152	4.03	5.1	1.06	0.20224	.	0.130971	0.49305	N	0.000141	T	0.00875	0.0029	N	0.21324	0.655	0.26295	N	0.97807	B	0.02656	0.0	B	0.04013	0.001	T	0.47156	-0.9139	10	0.87932	D	0	.	5.3812	0.16192	0.4911:0.3325:0.0:0.1764	.	164	O76027	ANXA9_HUMAN	A	164	ENSP00000357943:V164A	ENSP00000357943:V164A	V	+	2	0	ANXA9	149225454	0.998000	0.40836	0.986000	0.45419	0.174000	0.22865	1.648000	0.37271	0.326000	0.23384	-0.695000	0.03696	GTG		0.562	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		7	46	0	0	0	0.00308	0	7	46				
CELF3	11189	broad.mit.edu	37	1	151680015	151680015	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:151680015C>G	ENST00000290583.4	-	7	1533	c.740G>C	c.(739-741)gGc>gCc	p.G247A	AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.G247A|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_Missense_Mutation_p.G64A|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	247					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GGCGATGAGGCCATTGGCATT	0.647																																							uc001eys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(739-741)GGC>GCC		trinucleotide repeat containing 4							32.0	30.0	31.0					1																	151680015		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680015C>G	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.740G>C	1.37:g.151680015C>G	ENSP00000290583:p.Gly247Ala					CELF3_uc010pdh.1_Missense_Mutation_p.G55A|CELF3_uc001eyr.2_Missense_Mutation_p.G246A|CELF3_uc009wmy.2_Missense_Mutation_p.G247A|CELF3_uc009wmx.1_Missense_Mutation_p.G247A|CELF3_uc001eyt.2_Missense_Mutation_p.G170A|C1orf230_uc001eyu.2_5'Flank	p.G247A	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			7	1534	-			247					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.740G>C	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.11|15.11	2.735314|2.735314	0.48939|0.48939	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000392706;ENST00000368833	.|T;T;T	.|0.16457	.|2.34;2.43;3.33	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.146541	.|0.47093	.|D	.|0.000241	T|T	0.15609|0.15609	0.0376|0.0376	L|L	0.40543|0.40543	1.245|1.245	0.45528|0.45528	D|D	0.998489|0.998489	.|B;P;D;B;P;D	.|0.58620	.|0.196;0.599;0.964;0.041;0.871;0.983	.|B;B;P;B;B;P	.|0.54270	.|0.102;0.142;0.7;0.016;0.33;0.747	T|T	0.01532|0.01532	-1.1331|-1.1331	5|10	.|0.40728	.|T	.|0.16	-16.1204|-16.1204	14.9467|14.9467	0.71039|0.71039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;247;247;246;247;246	.|B4DQL3;Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;.;CELF3_HUMAN;.	P|A	248|247;247;64;246	.|ENSP00000290585:G247A;ENSP00000290583:G247A;ENSP00000376470:G64A	.|ENSP00000290583:G247A	A|G	-|-	1|2	0|0	CELF3|CELF3	149946639|149946639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.616000|3.616000	0.54174|0.54174	2.094000|2.094000	0.63399|0.63399	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		5	23	0	0	0	0.000602	0	5	23				
LINGO4	339398	broad.mit.edu	37	1	151774831	151774831	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:151774831C>T	ENST00000368820.3	-	2	1287	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	117						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCGATTGCCCTGCAGCCT	0.582																																							uc001ezf.1		NA																	0				large_intestine(1)	1						c.(349-351)GGC>GAC		leucine rich repeat and Ig domain containing 4							75.0	71.0	72.0					1																	151774831		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774831C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.350G>A	1.37:g.151774831C>T	ENSP00000357810:p.Gly117Asp						p.G117D	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	540	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		117			LRR 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368820.3	37	c.350G>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279418	0.59758	.	.	ENSG00000213171	ENST00000368820	T	0.60040	0.22	5.13	5.13	0.70059	.	0.000000	0.49305	D	0.000145	T	0.46132	0.1377	N	0.21508	0.67	0.39883	D	0.973663	D	0.56035	0.974	P	0.60117	0.869	T	0.47341	-0.9125	10	0.39692	T	0.17	.	9.4901	0.38953	0.0:0.9065:0.0:0.0935	.	117	Q6UY18	LIGO4_HUMAN	D	117	ENSP00000357810:G117D	ENSP00000357810:G117D	G	-	2	0	LINGO4	150041455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.849000	0.55910	2.681000	0.91329	0.462000	0.41574	GGC		0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		20	90	0	0	0	0.008871	0	20	90				
FLG2	388698	broad.mit.edu	37	1	152328032	152328032	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:152328032C>T	ENST00000388718.5	-	3	2302	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	744	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCAAAGCCAGAGGACTGA	0.507																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2230-2232)GGC>AGC		filaggrin family member 2							282.0	276.0	278.0					1																	152328032		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328032C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2230G>A	1.37:g.152328032C>T	ENSP00000373370:p.Gly744Ser					uc001ezv.2_Intron	p.G744S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2303	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		744			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2230G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638757	0.29157	.	.	ENSG00000143520	ENST00000388718	T	0.22336	1.96	5.17	-1.27	0.09347	.	.	.	.	.	T	0.02649	0.0080	N	0.20685	0.6	0.09310	N	1	P	0.41978	0.767	B	0.36922	0.236	T	0.28396	-1.0045	9	0.02654	T	1	.	10.0226	0.42053	0.0:0.5526:0.0:0.4474	.	744	Q5D862	FILA2_HUMAN	S	744	ENSP00000373370:G744S	ENSP00000373370:G744S	G	-	1	0	FLG2	150594656	0.000000	0.05858	0.005000	0.12908	0.475000	0.33008	-2.574000	0.00911	-0.034000	0.13713	0.609000	0.83330	GGC		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		83	534	0	0	0	0.00361	0	83	534				
NPR1	4881	broad.mit.edu	37	1	153655008	153655008	+	Silent	SNP	C	C	T	rs370485762		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:153655008C>T	ENST00000368680.3	+	5	1678	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	402					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATAGCAGTGGCGATCGGGAAA	0.488																																					Pancreas(141;1349 1870 15144 15830 40702)	Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3		NA																	0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1204-1206)GGC>GGT		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	C		1,4405	2.1+/-5.4	0,1,2202	133.0	109.0	117.0		1206	-4.9	1.0	1		117	0,8600		0,0,4300	no	coding-synonymous	NPR1	NM_000906.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		402/1062	153655008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153655008C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1206C>T	1.37:g.153655008C>T						NPR1_uc010pdz.1_Silent_p.G148G|NPR1_uc010pea.1_5'Flank	p.G402G	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	1627	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		402			Extracellular (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1206C>T	CCDS1051.1																																																																																				0.488	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		8	76	0	0	0	0.004482	0	8	76				
ADAR	103	broad.mit.edu	37	1	154557298	154557298	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:154557298T>C	ENST00000368474.4	-	15	3864	c.3665A>G	c.(3664-3666)tAt>tGt	p.Y1222C	ADAR_ENST00000292205.5_Missense_Mutation_p.Y1265C|ADAR_ENST00000368471.3_Missense_Mutation_p.Y927C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1222					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGGCAGAGATAAAAGTTCTT	0.483																																							uc001ffh.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3664-3666)TAT>TGT		adenosine deaminase, RNA-specific isoform a							116.0	116.0	116.0					1																	154557298		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557298T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3665A>G	1.37:g.154557298T>C	ENSP00000357459:p.Tyr1222Cys					ADAR_uc001ffj.2_Missense_Mutation_p.Y1177C|ADAR_uc001ffi.2_Missense_Mutation_p.Y1196C|ADAR_uc001ffk.2_Missense_Mutation_p.Y927C	p.Y1222C	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	15	3865	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1222					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3665A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377396	0.61735	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.13901	2.75;2.76;2.55;2.77	4.76	3.55	0.40652	Adenosine deaminase/editase (1);	0.202350	0.42420	D	0.000704	T	0.08179	0.0204	L	0.29908	0.895	0.30993	N	0.721197	D;D;D	0.71674	0.993;0.993;0.998	P;P;P	0.57371	0.725;0.8;0.819	T	0.08868	-1.0701	10	0.40728	T	0.16	-16.6613	6.0875	0.19975	0.0:0.0944:0.3178:0.5879	.	1177;1196;1222	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	1265;1222;927;1191	ENSP00000292205:Y1265C;ENSP00000357459:Y1222C;ENSP00000357456:Y927C;ENSP00000431794:Y1191C	ENSP00000292205:Y1265C	Y	-	2	0	ADAR	152823922	0.981000	0.34729	0.998000	0.56505	0.997000	0.91878	0.488000	0.22371	2.129000	0.65627	0.533000	0.62120	TAT		0.483	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		16	177	0	0	0	0.007413	0	16	177				
GBA	2629	broad.mit.edu	37	1	155206228	155206228	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:155206228A>C	ENST00000327247.5	-	9	1264	c.1032T>G	c.(1030-1032)gtT>gtG	p.V344V	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000368373.3_Silent_p.V344V|GBA_ENST00000536770.1_Silent_p.V231V|GBA_ENST00000427500.3_Silent_p.V295V|GBA_ENST00000428024.3_Silent_p.V257V|AL713999.1_ENST00000401290.1_RNA	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	344					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CAATGCCATGAACATATTTAG	0.512									Gaucher disease type I																														uc001fjh.2		NA																	0				ovary(1)|skin(1)	2						c.(1030-1032)GTT>GTG		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						73.0	63.0	66.0					1																	155206228		2203	4300	6503	SO:0001819	synonymous_variant	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155206228A>C	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1032T>G	1.37:g.155206228A>C						RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.V231V|GBA_uc010pfx.1_Silent_p.V295V|GBA_uc001fji.2_Silent_p.V344V|GBA_uc001fjj.2_Silent_p.V344V|GBA_uc001fjk.2_Silent_p.V344V|GBA_uc001fjl.2_Silent_p.V344V|GBA_uc010pfy.1_Silent_p.V257V	p.V344V	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1182	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		344					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	c.1032T>G	CCDS1102.1																																																																																				0.512	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		5	62	0	0	0	0.000602	0	5	62				
INSRR	3645	broad.mit.edu	37	1	156811294	156811294	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156811294A>T	ENST00000368195.3	-	21	3950	c.3554T>A	c.(3553-3555)aTt>aAt	p.I1185N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGTCACAATCTCCCAGAG	0.612																																							uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(3553-3555)ATT>AAT		insulin receptor-related receptor precursor							66.0	64.0	64.0					1																	156811294		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811294A>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3554T>A	1.37:g.156811294A>T	ENSP00000357178:p.Ile1185Asn					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.I1185N	NM_014215	NP_055030	P14616	INSRR_HUMAN			21	3808	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1185			Cytoplasmic (Potential).|Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3554T>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.556589	0.65425	.	.	ENSG00000027644	ENST00000368195	D	0.90620	-2.7	5.07	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.143265	0.31909	N	0.006873	D	0.85822	0.5786	.	.	.	0.50632	D	0.999885	P	0.47034	0.889	P	0.45538	0.484	D	0.86226	0.1634	9	0.87932	D	0	.	10.1697	0.42902	0.8505:0.0:0.0:0.1495	.	1185	P14616	INSRR_HUMAN	N	1185	ENSP00000357178:I1185N	ENSP00000357178:I1185N	I	-	2	0	INSRR	155077918	1.000000	0.71417	0.986000	0.45419	0.919000	0.55068	9.139000	0.94554	0.922000	0.37019	0.459000	0.35465	ATT		0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		16	122	0	0	0	0.004007	0	16	122				
INSRR	3645	broad.mit.edu	37	1	156823913	156823913	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156823913C>T	ENST00000368195.3	-	2	664	c.268G>A	c.(268-270)Gga>Aga	p.G90R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	90					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTCCAGTCCGTAGACACGG	0.617																																							uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(268-270)GGA>AGA		insulin receptor-related receptor precursor							78.0	76.0	77.0					1																	156823913		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823913C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.268G>A	1.37:g.156823913C>T	ENSP00000357178:p.Gly90Arg					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.G90R	p.G90R	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	522	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		90					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.268G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853602	0.91355	.	.	ENSG00000027644	ENST00000368195	T	0.32988	1.43	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.49305	D	0.000153	T	0.50205	0.1602	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56432	-0.7980	9	0.87932	D	0	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	90	P14616	INSRR_HUMAN	R	90	ENSP00000357178:G90R	ENSP00000357178:G90R	G	-	1	0	INSRR	155090537	1.000000	0.71417	0.991000	0.47740	0.913000	0.54294	7.811000	0.86092	2.367000	0.80283	0.557000	0.71058	GGA		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		24	48	0	0	0	0.00333	0	24	48				
ARHGEF11	9826	broad.mit.edu	37	1	156914894	156914894	+	Missense_Mutation	SNP	G	G	A	rs140673049		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156914894G>A	ENST00000361409.2	-	29	3530	c.2788C>T	c.(2788-2790)Cgc>Tgc	p.R930C	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R346C|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R970C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	930					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAACGGTGGCGGTTCTCTGTT	0.597																																							uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2788-2790)CGC>TGC		Rho guanine nucleotide exchange factor (GEF) 11		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	112.0	111.0		2788,2908	5.3	1.0	1	dbSNP_134	111	0,8600		0,0,4300	no	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	930/1523,970/1563	156914894	1,13005	2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914894G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2788C>T	1.37:g.156914894G>A	ENSP00000354644:p.Arg930Cys					ARHGEF11_uc010phu.1_Missense_Mutation_p.R346C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R970C	p.R930C	NM_014784	NP_055599	O15085	ARHGB_HUMAN			29	3828	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		930					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2788C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005245	0.54254	2.27E-4	0.0	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69435	-0.4;-0.4;-0.4	5.28	5.28	0.74379	Dbl homology (DH) domain (1);	0.242198	0.28853	N	0.013938	T	0.44891	0.1315	L	0.42245	1.32	0.58432	D	0.999999	B;B;B	0.23735	0.08;0.09;0.035	B;B;B	0.19148	0.024;0.016;0.015	T	0.53265	-0.8463	10	0.87932	D	0	-11.8718	10.5742	0.45217	0.0:0.142:0.7113:0.1467	.	346;930;970	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	C	970;930;346	ENSP00000357177:R970C;ENSP00000354644:R930C;ENSP00000313470:R346C	ENSP00000313470:R346C	R	-	1	0	ARHGEF11	155181518	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.412000	0.52679	2.756000	0.94617	0.650000	0.86243	CGC		0.597	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		41	208	0	0	0	0.007835	0	41	208				
KIRREL	55243	broad.mit.edu	37	1	158064144	158064144	+	Silent	SNP	C	C	T	rs544161764		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158064144C>T	ENST00000359209.6	+	14	1828	c.1761C>T	c.(1759-1761)tgC>tgT	p.C587C	KIRREL_ENST00000368172.1_Silent_p.C401C|KIRREL_ENST00000416935.2_Silent_p.C487C|KIRREL_ENST00000392272.2_Silent_p.C484C|KIRREL_ENST00000368173.3_Silent_p.C603C|KIRREL_ENST00000360089.4_Silent_p.C423C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	587					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ACCTGCGCTGCGACACCATCG	0.602																																							uc001frn.3		NA																	0				ovary(1)	1						c.(1759-1761)TGC>TGT		kin of IRRE like precursor							51.0	46.0	48.0					1																	158064144		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064144C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1761C>T	1.37:g.158064144C>T						KIRREL_uc010pib.1_Silent_p.C487C|KIRREL_uc009wsq.2_Silent_p.C423C|KIRREL_uc001fro.3_Silent_p.C401C|uc001frp.2_5'Flank	p.C587C	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			14	2165	+	all_hematologic(112;0.0378)		587			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1761C>T	CCDS1172.2																																																																																				0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		3	24	0	0	0	0.004672	0	3	24				
CD1E	913	broad.mit.edu	37	1	158326568	158326568	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158326568T>C	ENST00000368167.3	+	6	1288	c.1049T>C	c.(1048-1050)aTg>aCg	p.M350T	CD1E_ENST00000368160.3_Missense_Mutation_p.M338T|CD1E_ENST00000444681.2_Missense_Mutation_p.M251T|CD1E_ENST00000368163.3_Missense_Mutation_p.M283T|CD1E_ENST00000368154.1_Missense_Mutation_p.M106T|CD1E_ENST00000368157.1_Missense_Mutation_p.M94T|CD1E_ENST00000368166.3_Missense_Mutation_p.M149T|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.M161T|CD1E_ENST00000368165.3_Missense_Mutation_p.M260T|CD1E_ENST00000368156.1_Missense_Mutation_p.M248T|CD1E_ENST00000368155.3_Missense_Mutation_p.M193T	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	350					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCTTTCTCATGGGAGCCAAC	0.433																																							uc001fse.2		NA																	0				skin(3)	3						c.(1048-1050)ATG>ACG		CD1E antigen isoform a precursor							104.0	100.0	101.0					1																	158326568		1890	4117	6007	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326568T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1049T>C	1.37:g.158326568T>C	ENSP00000357149:p.Met350Thr					CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.M260T|CD1E_uc001fsj.2_Missense_Mutation_p.M193T|CD1E_uc001fsc.2_Missense_Mutation_p.M161T|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.M106T|CD1E_uc001fsf.2_Missense_Mutation_p.M338T|CD1E_uc001fry.2_Missense_Mutation_p.M283T|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.M149T|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.M251T|CD1E_uc001frz.2_Missense_Mutation_p.M248T|CD1E_uc009wsw.2_Missense_Mutation_p.W65R	p.M350T	NM_030893	NP_112155	P15812	CD1E_HUMAN			6	1288	+	all_hematologic(112;0.0378)		350					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.1049T>C	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	T	1.914	-0.449969	0.04572	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.41758	5.29;4.76;3.51;3.56;3.72;3.66;1.0;4.87;3.76;3.74;0.99	4.88	-5.86	0.02304	.	5.953300	0.00166	N	0.000010	T	0.06096	0.0158	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.22211	0.001;0.001;0.001;0.0;0.002;0.0;0.0;0.066;0.022;0.001	B;B;B;B;B;B;B;B;B;B	0.21708	0.0;0.002;0.001;0.001;0.002;0.0;0.001;0.036;0.006;0.001	T	0.07673	-1.0760	10	0.24483	T	0.36	7.3605	2.4611	0.04541	0.1126:0.2672:0.1271:0.4931	.	251;260;193;149;338;350;161;106;248;283	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	T	251;350;161;260;149;283;94;338;248;193;106	ENSP00000402906:M251T;ENSP00000357149:M350T;ENSP00000416228:M161T;ENSP00000357147:M260T;ENSP00000357148:M149T;ENSP00000357145:M283T;ENSP00000357139:M94T;ENSP00000357142:M338T;ENSP00000357138:M248T;ENSP00000357137:M193T;ENSP00000357136:M106T	ENSP00000357136:M106T	M	+	2	0	CD1E	156593192	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.323000	0.01117	-1.256000	0.02478	0.533000	0.62120	ATG		0.433	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		26	140	0	0	0	0.004656	0	26	140				
OR10Z1	128368	broad.mit.edu	37	1	158576744	158576744	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158576744T>C	ENST00000361284.1	+	1	516	c.516T>C	c.(514-516)caT>caC	p.H172H		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCAGCTCCCATGAAATCCAGC	0.502																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(514-516)CAT>CAC		olfactory receptor, family 10, subfamily Z,							113.0	105.0	108.0					1																	158576744		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576744T>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.516T>C	1.37:g.158576744T>C							p.H172H	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	516	+	all_hematologic(112;0.0378)		172			Extracellular (Potential).		Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.516T>C	CCDS30901.1																																																																																				0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		8	163	0	0	0	0.00308	0	8	163				
SPTA1	6708	broad.mit.edu	37	1	158584046	158584046	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158584046T>C	ENST00000368147.4	-	49	7019	c.6839A>G	c.(6838-6840)tAt>tGt	p.Y2280C	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2280	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACTCACTTATAGATTGTGCT	0.333																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6838-6840)TAT>TGT		spectrin, alpha, erythrocytic 1							72.0	72.0	72.0					1																	158584046		1810	4069	5879	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158584046T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6839A>G	1.37:g.158584046T>C	ENSP00000357129:p.Tyr2280Cys						p.Y2280C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			49	7038	-	all_hematologic(112;0.0378)		2280			EF-hand 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6839A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920849	0.33908	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.23552	1.9;1.9	5.53	3.1	0.35709	EF-hand-like domain (1);	.	.	.	.	T	0.20495	0.0493	L	0.43923	1.385	0.39902	D	0.97391	D	0.63046	0.992	P	0.54965	0.765	T	0.02026	-1.1227	9	0.87932	D	0	.	10.0747	0.42353	0.5763:0.0:0.0:0.4237	.	2280	P02549	SPTA1_HUMAN	C	2280;2277	ENSP00000357130:Y2280C;ENSP00000357129:Y2277C	ENSP00000357129:Y2277C	Y	-	2	0	SPTA1	156850670	1.000000	0.71417	0.742000	0.31022	0.262000	0.26303	2.349000	0.44054	0.456000	0.26937	0.528000	0.53228	TAT		0.333	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	85	0	0	0	0.001168	0	6	85				
SPTA1	6708	broad.mit.edu	37	1	158627363	158627363	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158627363C>T	ENST00000368147.4	-	19	2889	c.2709G>A	c.(2707-2709)caG>caA	p.Q903Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	903					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCCAGGTACTGCTGGAACT	0.473																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2707-2709)CAG>CAA		spectrin, alpha, erythrocytic 1							179.0	178.0	178.0					1																	158627363		2016	4199	6215	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627363C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2709G>A	1.37:g.158627363C>T							p.Q903Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2908	-	all_hematologic(112;0.0378)		903			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2709G>A	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	256	0	0	0	0.008291	0	11	256				
SLAMF9	89886	broad.mit.edu	37	1	159923178	159923178	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:159923178A>C	ENST00000368093.3	-	2	428	c.312T>G	c.(310-312)gaT>gaG	p.D104E	SLAMF9_ENST00000368092.3_Missense_Mutation_p.D104E|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	104	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGCCCTGAATCCTCCCAGC	0.502																																							uc001fus.2		NA																	0				ovary(1)	1						c.(310-312)GAT>GAG		SLAM family member 9 isoform 1							194.0	170.0	178.0					1																	159923178		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159923178A>C	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.312T>G	1.37:g.159923178A>C	ENSP00000357072:p.Asp104Glu					SLAMF9_uc009wtd.2_Missense_Mutation_p.D104E|SLAMF9_uc001fut.2_Intron	p.D104E	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	429	-	all_hematologic(112;0.093)		104			Extracellular (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.312T>G	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.921028	0.52653	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	D;D	0.87729	-2.29;-2.29	5.28	0.514	0.17007	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.051340	0.85682	D	0.000000	D	0.89962	0.6867	M	0.89214	3.015	0.19300	N	0.999974	D;D	0.89917	0.985;1.0	P;D	0.91635	0.747;0.999	T	0.82756	-0.0300	9	.	.	.	-3.182	7.9384	0.29944	0.4046:0.0:0.5954:0.0	.	104;104	Q96A28-2;Q96A28	.;SLAF9_HUMAN	E	104	ENSP00000357072:D104E;ENSP00000357071:D104E	.	D	-	3	2	SLAMF9	158189802	0.188000	0.23250	0.060000	0.19600	0.721000	0.41392	0.093000	0.15086	0.230000	0.21059	-0.177000	0.13119	GAT		0.502	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		19	127	0	0	0	0.008871	0	19	127				
KCNJ9	3765	broad.mit.edu	37	1	160054197	160054197	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:160054197G>A	ENST00000368088.3	+	2	619	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	126					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACGGGCACCGCGTCATCACC	0.647																																							uc001fuy.1		NA																	0				ovary(1)|skin(1)	2						c.(376-378)CGC>CAC		potassium inwardly-rectifying channel subfamily							45.0	39.0	41.0					1																	160054197		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054197G>A	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.377G>A	1.37:g.160054197G>A	ENSP00000357067:p.Arg126His						p.R126H	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	619	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		126			Extracellular (By similarity).		Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.377G>A	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048089	0.93740	.	.	ENSG00000162728	ENST00000368088	D	0.97016	-4.21	4.77	4.77	0.60923	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	M	0.93763	3.455	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99831	1.1054	10	0.87932	D	0	.	16.5815	0.84716	0.0:0.0:1.0:0.0	.	126	Q92806	IRK9_HUMAN	H	126	ENSP00000357067:R126H	ENSP00000357067:R126H	R	+	2	0	KCNJ9	158320821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	2.186000	0.69663	0.484000	0.47621	CGC		0.647	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		7	69	0	0	0	0.001984	0	7	69				
OLFML2B	25903	broad.mit.edu	37	1	161954714	161954714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:161954714C>A	ENST00000294794.3	-	7	1954	c.1531G>T	c.(1531-1533)Ggg>Tgg	p.G511W	OLFML2B_ENST00000367938.1_5'UTR|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G512W	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	511	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATTCCGCCCATATGTGTTC	0.547																																							uc001gbu.2		NA																	0				skin(1)	1						c.(1531-1533)GGG>TGG		olfactomedin-like 2B precursor							190.0	168.0	175.0					1																	161954714		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954714C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1531G>T	1.37:g.161954714C>A	ENSP00000294794:p.Gly511Trp					OLFML2B_uc001gbt.2_5'UTR|OLFML2B_uc010pkq.1_Missense_Mutation_p.G512W	p.G511W	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		7	1955	-	all_hematologic(112;0.156)		511			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1531G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148897	0.78001	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.89746	-2.56;-2.56	4.31	4.31	0.51392	Olfactomedin-like (3);	.	.	.	.	D	0.94729	0.8299	M	0.91090	3.175	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95799	0.8831	8	0.87932	D	0	.	14.3441	0.66649	0.0:1.0:0.0:0.0	.	512;511	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	W	511;512	ENSP00000294794:G511W;ENSP00000356917:G512W	ENSP00000294794:G511W	G	-	1	0	OLFML2B	160221338	1.000000	0.71417	0.944000	0.38274	0.897000	0.52465	7.510000	0.81708	2.232000	0.73038	0.561000	0.74099	GGG		0.547	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		19	157	1	0	2.94398e-08	0.007413	3.39732e-08	19	157				
NUF2	83540	broad.mit.edu	37	1	163306614	163306614	+	Silent	SNP	G	G	C	rs148215962		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:163306614G>C	ENST00000271452.3	+	6	690	c.411G>C	c.(409-411)acG>acC	p.T137T	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Silent_p.T137T|NUF2_ENST00000524800.1_Silent_p.T137T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	137	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313																																							uc001gcq.1		NA																	0				ovary(3)|skin(1)	4						c.(409-411)ACG>ACC		NUF2, NDC80 kinetochore complex component							68.0	70.0	69.0					1																	163306614		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163306614G>C	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.411G>C	1.37:g.163306614G>C						NUF2_uc001gcp.2_Silent_p.T137T|NUF2_uc001gcr.1_Silent_p.T137T|NUF2_uc009wvc.1_Silent_p.T137T	p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			6	711	+	all_hematologic(923;0.101)		137			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.411G>C	CCDS1245.1																																																																																				0.313	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		9	58	0	0	0	0.006214	0	9	58				
TMCO1	54499	broad.mit.edu	37	1	165721382	165721382	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:165721382T>G	ENST00000392129.6	-	5	430	c.280A>C	c.(280-282)Att>Ctt	p.I94L	TMCO1_ENST00000464650.1_Missense_Mutation_p.I10L|TMCO1_ENST00000367881.5_Missense_Mutation_p.I145L|TMCO1_ENST00000580248.1_Missense_Mutation_p.I10L	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	94						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAAAAGCCAATAGCAAACATG	0.303																																							uc001gdj.3		NA																	0				central_nervous_system(1)	1						c.(280-282)ATT>CTT		transmembrane and coiled-coil domains 1							101.0	93.0	96.0					1																	165721382		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165721382T>G	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.280A>C	1.37:g.165721382T>G	ENSP00000375975:p.Ile94Leu					TMCO1_uc001gdl.3_Missense_Mutation_p.I10L|TMCO1_uc001gdm.3_Missense_Mutation_p.I10L|TMCO1_uc001gdk.3_Missense_Mutation_p.I82L|TMCO1_uc001gdn.3_RNA	p.I94L	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			5	429	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		94			Helical; (Potential).		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.280A>C		.	.	.	.	.	.	.	.	.	.	T	19.17	3.776158	0.70107	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.77313	2.365	0.42869	D	0.994134	B;B	0.23735	0.09;0.09	B;B	0.33121	0.158;0.158	T	0.58831	-0.7567	8	0.34782	T	0.22	.	14.2189	0.65812	0.0:0.0:0.0:1.0	.	82;94	B7Z591;Q9UM00	.;TMCO1_HUMAN	L	94;75	.	ENSP00000356856:I94L	I	-	1	0	TMCO1	163988006	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	7.477000	0.81069	2.240000	0.73641	0.533000	0.62120	ATT		0.303	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		6	42	0	0	0	0.001984	0	6	42				
ILDR2	387597	broad.mit.edu	37	1	166890011	166890011	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:166890011C>T	ENST00000271417.3	-	9	1872	c.1817G>A	c.(1816-1818)cGc>cAc	p.R606H	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.R587H|ILDR2_ENST00000525740.1_Missense_Mutation_p.R479H|ILDR2_ENST00000526687.1_Missense_Mutation_p.R498H|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.R547H	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	606					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GTCGCGGCCGCGGTAGGACGG	0.677																																							uc001gdx.1		NA																	0				ovary(1)	1						c.(1816-1818)CGC>CAC		immunoglobulin-like domain containing receptor							6.0	8.0	7.0					1																	166890011		2079	4110	6189	SO:0001583	missense	387597					integral to membrane		g.chr1:166890011C>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1817G>A	1.37:g.166890011C>T	ENSP00000271417:p.Arg606His						p.R606H	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			9	1873	-			606			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.1817G>A	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723963	0.48728	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;D;T	0.85629	-0.08;-2.01;-0.14;-2.0;-0.92	4.76	4.76	0.60689	.	0.476459	0.17974	N	0.155752	T	0.70701	0.3254	L	0.47716	1.5	0.36788	D	0.884695	B	0.30664	0.289	B	0.24701	0.055	T	0.72297	-0.4335	9	0.42905	T	0.14	.	12.8493	0.57848	0.1631:0.8369:0.0:0.0	.	606	Q71H61	ILDR2_HUMAN	H	606;479;587;498;547	ENSP00000271417:R606H;ENSP00000436120:R479H;ENSP00000436882:R587H;ENSP00000434273:R498H;ENSP00000432750:R547H	ENSP00000271417:R606H	R	-	2	0	ILDR2	165156635	0.857000	0.29778	0.973000	0.42090	0.590000	0.36582	1.510000	0.35790	2.171000	0.68590	0.561000	0.74099	CGC		0.677	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		4	6	0	0	0	0.009096	0	4	6				
DPT	1805	broad.mit.edu	37	1	168670267	168670267	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:168670267G>A	ENST00000367817.3	-	3	616	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	176	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TTCCACTGCAGAGAAAGTGGT	0.433																																							uc001gfp.2		NA																	0				ovary(1)	1						c.(526-528)TCT>TTT		dermatopontin precursor							164.0	155.0	158.0					1																	168670267		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168670267G>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.527C>T	1.37:g.168670267G>A	ENSP00000356791:p.Ser176Phe						p.S176F	NM_001937	NP_001928	Q07507	DERM_HUMAN			3	543	-	all_hematologic(923;0.208)		176			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.527C>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232004	0.79688	.	.	ENSG00000143196	ENST00000367817	T	0.48836	0.8	5.42	5.42	0.78866	.	0.101915	0.64402	D	0.000002	T	0.60235	0.2253	L	0.59436	1.845	0.51767	D	0.999937	D	0.69078	0.997	D	0.78314	0.991	T	0.62590	-0.6822	9	0.66056	D	0.02	-11.8351	18.0567	0.89365	0.0:0.0:1.0:0.0	.	176	Q07507	DERM_HUMAN	F	176	ENSP00000356791:S176F	ENSP00000356791:S176F	S	-	2	0	DPT	166936891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.862000	0.69560	2.540000	0.85666	0.644000	0.83932	TCT		0.433	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		37	204	0	0	0	0.006999	0	37	204				
ZBTB37	84614	broad.mit.edu	37	1	173840201	173840201	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:173840201G>T	ENST00000367701.5	+	2	1029	c.838G>T	c.(838-840)Ggc>Tgc	p.G280C	ZBTB37_ENST00000432989.1_Missense_Mutation_p.G280C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.G280C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.G280C|ZBTB37_ENST00000367704.1_Missense_Mutation_p.G280C			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TGATACCACAGGCCATGGTTC	0.493																																							uc009wwp.1		NA																	0					0						c.(838-840)GGC>TGC		zinc finger and BTB domain containing 37 isoform							75.0	71.0	72.0					1																	173840201		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173840201G>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.838G>T	1.37:g.173840201G>T	ENSP00000356674:p.Gly280Cys					ZBTB37_uc001gjp.1_Missense_Mutation_p.G280C|ZBTB37_uc001gjq.3_Missense_Mutation_p.G280C|ZBTB37_uc001gjr.2_Missense_Mutation_p.G280C	p.G280C	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	1114	+			280					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.838G>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386488	0.82902	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	D;T;D;D;T	0.83506	-1.7;2.53;-1.73;-1.73;2.53	6.03	6.03	0.97812	.	0.046101	0.85682	D	0.000000	D	0.85592	0.5732	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.964	D	0.85906	0.1437	10	0.59425	D	0.04	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	280;280	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	C	280;280;280;280;188;280	ENSP00000356677:G280C;ENSP00000415293:G280C;ENSP00000409408:G280C;ENSP00000356675:G280C;ENSP00000356674:G280C	ENSP00000356674:G280C	G	+	1	0	ZBTB37	172106824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	2.861000	0.98227	0.655000	0.94253	GGC		0.493	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		4	52	1	0	0.00909568	0.009096	0.00938228	4	52				
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:175105027G>A	ENST00000239462.4	+	16	3490	c.3377G>A	c.(3376-3378)tGg>tAg	p.W1126*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537																																							uc001gkl.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3376-3378)TGG>TAG		tenascin N precursor							151.0	151.0	151.0					1																	175105027		2203	4300	6503	SO:0001587	stop_gained	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105027G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3377G>A	1.37:g.175105027G>A	ENSP00000239462:p.Trp1126*						p.W1126*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3490	+		Breast(1374;0.000962)	1126			Fibrinogen C-terminal.		B9EGP3|Q5R360	Nonsense_Mutation	SNP	ENST00000239462.4	37	c.3377G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	43	9.899818	0.99290	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.5	5.5	0.81552	.	0.115488	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	.	.	.	X	1126;949	.	ENSP00000239462:W1126X	W	+	2	0	TNN	173371650	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.555000	0.86185	0.655000	0.94253	TGG		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		18	141	0	0	0	0.008871	0	18	141				
ASTN1	460	broad.mit.edu	37	1	176838014	176838014	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:176838014A>G	ENST00000367654.3	-	22	3848	c.3637T>C	c.(3637-3639)Ttc>Ctc	p.F1213L	ASTN1_ENST00000361833.2_Missense_Mutation_p.F1205L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F1205L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F1205L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1213					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCCAGGTGAATTCCCCAAAA	0.478																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3613-3615)TTC>CTC		astrotactin isoform 1							133.0	129.0	131.0					1																	176838014		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838014A>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3637T>C	1.37:g.176838014A>G	ENSP00000356626:p.Phe1213Leu					ASTN1_uc001glb.1_Missense_Mutation_p.F1205L|ASTN1_uc001gld.1_Missense_Mutation_p.F1205L	p.F1205L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3825	-			1213					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3613T>C		.	.	.	.	.	.	.	.	.	.	A	35	5.472593	0.96274	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.23552	1.9;2.19;2.18;1.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.34521	1.04	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.29274	-1.0017	10	0.87932	D	0	-36.3386	16.0127	0.80413	1.0:0.0:0.0:0.0	.	1205;1205	O14525-2;B1AJS1	.;.	L	1205;1205;1213;1205;1205	ENSP00000356629:F1205L;ENSP00000354536:F1205L;ENSP00000356626:F1213L;ENSP00000395041:F1205L	ENSP00000354536:F1205L	F	-	1	0	ASTN1	175104637	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.170000	0.94795	2.266000	0.75297	0.533000	0.62120	TTC		0.478	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	152	0	0	0	0.001984	0	7	152				
ASTN1	460	broad.mit.edu	37	1	176915113	176915113	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:176915113T>C	ENST00000367654.3	-	13	2433	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	ASTN1_ENST00000361833.2_Missense_Mutation_p.N733S|ASTN1_ENST00000367657.3_Missense_Mutation_p.N733S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	741					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAATGGTTGTTGTAACCAAA	0.488																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2197-2199)AAC>AGC		astrotactin isoform 1							123.0	125.0	124.0					1																	176915113		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915113T>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2222A>G	1.37:g.176915113T>C	ENSP00000356626:p.Asn741Ser					ASTN1_uc001glb.1_Missense_Mutation_p.N733S|ASTN1_uc001gld.1_Missense_Mutation_p.N733S|ASTN1_uc009wwx.1_Missense_Mutation_p.N733S	p.N733S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2410	-			741					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2198A>G		.	.	.	.	.	.	.	.	.	.	T	23.4	4.409491	0.83340	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16743	2.32;2.73;2.73;2.32	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	N	0.17082	0.46	0.80722	D	1	D;D;D	0.67145	0.996;0.974;0.974	D;D;D	0.73380	0.98;0.969;0.969	T	0.09640	-1.0665	10	0.62326	D	0.03	-37.9414	14.8389	0.70209	0.0:0.0:0.0:1.0	.	741;733;733	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	733;733;741;733;733	ENSP00000356629:N733S;ENSP00000354536:N733S;ENSP00000356626:N741S;ENSP00000395041:N733S	ENSP00000354536:N733S	N	-	2	0	ASTN1	175181736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	1.997000	0.58415	0.533000	0.62120	AAC		0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		38	158	0	0	0	0.004878	0	38	158				
RASAL2	9462	broad.mit.edu	37	1	178410697	178410697	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:178410697G>T	ENST00000462775.1	+	5	523	c.398G>T	c.(397-399)aGt>aTt	p.S133I	RASAL2_ENST00000448150.3_Missense_Mutation_p.S263I|RASAL2_ENST00000367649.3_Missense_Mutation_p.S281I	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	133	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACCTACTTAAGTGGAAGTAAA	0.383																																							uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(397-399)AGT>ATT		RAS protein activator like 2 isoform 1							75.0	73.0	74.0					1																	178410697		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178410697G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.398G>T	1.37:g.178410697G>T	ENSP00000420558:p.Ser133Ile					RASAL2_uc001glq.2_Missense_Mutation_p.S281I	p.S133I	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			5	523	+			133			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.398G>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689521	0.68271	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93811	-3.29;-3.29;-3.29	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.045054	0.85682	D	0.000000	D	0.94016	0.8083	M	0.70595	2.14	0.43313	D	0.995327	P;P	0.47677	0.83;0.899	P;B	0.48304	0.573;0.387	D	0.94492	0.7702	10	0.87932	D	0	.	14.7495	0.69513	0.0712:0.0:0.9288:0.0	.	133;281	Q9UJF2;F8W755	NGAP_HUMAN;.	I	263;281;133	ENSP00000407768:S263I;ENSP00000356621:S281I;ENSP00000420558:S133I	ENSP00000356621:S281I	S	+	2	0	RASAL2	176677320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.563000	0.60823	2.627000	0.88993	0.591000	0.81541	AGT		0.383	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		20	37	1	0	5.26018e-13	0.001882	6.47246e-13	20	37				
FAM20B	9917	broad.mit.edu	37	1	179013194	179013194	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:179013194T>C	ENST00000263733.4	+	2	548	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	71						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCCCAGTGGGTGGTTCCCCGG	0.557																																							uc001gmc.2		NA																	0				ovary(3)	3						c.(211-213)GTG>GCG		hypothetical protein LOC9917 precursor							60.0	59.0	59.0					1																	179013194		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179013194T>C	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.212T>C	1.37:g.179013194T>C	ENSP00000263733:p.Val71Ala						p.V71A	NM_014864	NP_055679	O75063	XYLK_HUMAN			2	505	+			71			Lumenal (Potential).		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.212T>C	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632755	0.87660	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.87809	-2.3	6.03	6.03	0.97812	.	0.052453	0.85682	D	0.000000	D	0.91355	0.7273	L	0.58101	1.795	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	D	0.91721	0.5389	10	0.62326	D	0.03	-43.6958	16.5724	0.84622	0.0:0.0:0.0:1.0	.	71	O75063	XYLK_HUMAN	A	71	ENSP00000263733:V71A	ENSP00000263733:V71A	V	+	2	0	FAM20B	177279817	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.313000	0.78055	0.455000	0.32223	GTG		0.557	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		12	83	0	0	0	0.001368	0	12	83				
APOBEC4	403314	broad.mit.edu	37	1	183616967	183616967	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:183616967A>G	ENST00000308641.4	-	2	1221	c.950T>C	c.(949-951)gTa>gCa	p.V317A	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	317					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TAAGTGCCTTACGATATTCCT	0.478																																							uc001gqn.2		NA																	0					0						c.(949-951)GTA>GCA		apolipoprotein B							159.0	146.0	150.0					1																	183616967		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616967A>G	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.950T>C	1.37:g.183616967A>G	ENSP00000310622:p.Val317Ala					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.V317A	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	1222	-			317					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.950T>C	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	A	9.573	1.121488	0.20877	.	.	ENSG00000173627	ENST00000308641	T	0.20881	2.04	5.15	5.15	0.70609	.	0.428752	0.18065	N	0.152808	T	0.20780	0.0500	L	0.36672	1.1	0.09310	N	0.99999	B	0.28082	0.2	B	0.30572	0.117	T	0.19289	-1.0310	10	0.72032	D	0.01	-20.934	13.9614	0.64182	1.0:0.0:0.0:0.0	.	317	Q8WW27	ABEC4_HUMAN	A	317	ENSP00000310622:V317A	ENSP00000310622:V317A	V	-	2	0	APOBEC4	181883590	0.988000	0.35896	0.152000	0.22495	0.230000	0.25150	5.728000	0.68531	1.942000	0.56320	0.533000	0.62120	GTA		0.478	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		17	148	0	0	0	0.007413	0	17	148				
HMCN1	83872	broad.mit.edu	37	1	185964206	185964206	+	Silent	SNP	G	G	A	rs112519612		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:185964206G>A	ENST00000271588.4	+	24	3994	c.3765G>A	c.(3763-3765)acG>acA	p.T1255T	HMCN1_ENST00000367492.2_Silent_p.T1255T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1255	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGAGATAACGCTACATGTCC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20362	0.001		0.0	False		,,,				2504	0.0						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(3763-3765)ACG>ACA		hemicentin 1 precursor							103.0	94.0	97.0					1																	185964206		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185964206G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3765G>A	1.37:g.185964206G>A							p.T1255T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			24	3994	+			1255			Ig-like C2-type 9.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3765G>A	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	110	0	0	0	0.00499	0	16	110				
HMCN1	83872	broad.mit.edu	37	1	186038865	186038865	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:186038865T>C	ENST00000271588.4	+	51	8179	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	HMCN1_ENST00000367492.2_Silent_p.N2650N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2650	Ig-like C2-type 24.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGCCACGAATGAGGCTGGAG	0.408																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(7948-7950)AAT>AAC		hemicentin 1 precursor							132.0	122.0	125.0					1																	186038865		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186038865T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7950T>C	1.37:g.186038865T>C							p.N2650N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			51	8179	+			2650			Ig-like C2-type 24.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7950T>C	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	44	0	0	0	0.008291	0	9	44				
HMCN1	83872	broad.mit.edu	37	1	186089238	186089238	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:186089238G>C	ENST00000271588.4	+	80	12419	c.12190G>C	c.(12190-12192)Gct>Cct	p.A4064P	HMCN1_ENST00000367492.2_Missense_Mutation_p.A4064P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4064	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGAACCCGGCTGGTACAGC	0.448																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(12190-12192)GCT>CCT		hemicentin 1 precursor							57.0	59.0	58.0					1																	186089238		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186089238G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12190G>C	1.37:g.186089238G>C	ENSP00000271588:p.Ala4064Pro						p.A4064P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			80	12419	+			4064			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12190G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618994	0.87460	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69685	-0.42;-0.42	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85559	0.1226	10	0.56958	D	0.05	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	4064	Q96RW7	HMCN1_HUMAN	P	4064	ENSP00000271588:A4064P;ENSP00000356462:A4064P	ENSP00000271588:A4064P	A	+	1	0	HMCN1	184355861	1.000000	0.71417	0.996000	0.52242	0.315000	0.28087	9.713000	0.98740	2.878000	0.98634	0.650000	0.86243	GCT		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	48	0	0	0	0.00245	0	15	48				
TPR	7175	broad.mit.edu	37	1	186310226	186310226	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:186310226G>A	ENST00000367478.4	-	29	4250	c.3954C>T	c.(3952-3954)agC>agT	p.S1318S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1318	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S1319S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACATACCGCTTTTCTCAC	0.388			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(3952-3954)AGC>AGT		nuclear pore complex-associated protein TPR							163.0	148.0	153.0					1																	186310226		1920	4142	6062	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186310226G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3954C>T	1.37:g.186310226G>A							p.S1318S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	29	4251	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1318			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.3954C>T	CCDS41446.1																																																																																				0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		18	113	0	0	0	0.00499	0	18	113				
BRINP3	339479	broad.mit.edu	37	1	190129974	190129974	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:190129974G>A	ENST00000367462.3	-	7	1239	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	BRINP3_ENST00000534846.1_Silent_p.L234L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	336					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TAGATGTGTTGAGGAAATAAT	0.308																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1006-1008)CTC>CTT		family with sequence similarity 5, member C							98.0	107.0	104.0					1																	190129974		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190129974G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1008C>T	1.37:g.190129974G>A						FAM5C_uc010pot.1_Silent_p.L234L	p.L336L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	1240	-	Prostate(682;0.198)		336					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1008C>T	CCDS1373.1																																																																																				0.308	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		7	141	0	0	0	0.001984	0	7	141				
BRINP3	339479	broad.mit.edu	37	1	190250870	190250870	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:190250870G>A	ENST00000367462.3	-	3	478	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	83	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ACTTTCCAGCGGCCAAACTCC	0.398																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(247-249)CGC>TGC		family with sequence similarity 5, member C							59.0	58.0	59.0					1																	190250870		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250870G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.247C>T	1.37:g.190250870G>A	ENSP00000356432:p.Arg83Cys					FAM5C_uc010pot.1_Intron	p.R83C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	479	-	Prostate(682;0.198)		83					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.247C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022979	0.75275	.	.	ENSG00000162670	ENST00000367462	D	0.84442	-1.85	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91709	0.5380	10	0.87932	D	0	.	17.7103	0.88319	0.0:0.0:1.0:0.0	.	83	Q76B58	FAM5C_HUMAN	C	83	ENSP00000356432:R83C	ENSP00000356432:R83C	R	-	1	0	FAM5C	188517493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.206000	0.72154	2.787000	0.95880	0.585000	0.79938	CGC		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		6	74	0	0	0	0.001168	0	6	74				
ASPM	259266	broad.mit.edu	37	1	197115347	197115347	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:197115347A>G	ENST00000367409.4	-	1	477	c.221T>C	c.(220-222)gTg>gCg	p.V74A	ASPM_ENST00000294732.7_Missense_Mutation_p.V74A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	74					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACTTCTGCCACCTCCTCGTT	0.607																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(220-222)GTG>GCG		asp (abnormal spindle)-like, microcephaly							120.0	125.0	123.0					1																	197115347		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115347A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.221T>C	1.37:g.197115347A>G	ENSP00000356379:p.Val74Ala					ASPM_uc001gtv.2_Missense_Mutation_p.V74A|ASPM_uc001gtw.3_5'UTR	p.V74A	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			1	478	-			74					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.221T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	1.018	-0.685706	0.03328	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.57595	0.39;1.7	4.43	-3.19	0.05171	.	1.353670	0.04955	N	0.461000	T	0.25901	0.0631	N	0.04880	-0.145	0.09310	N	1	B;B	0.29716	0.0;0.255	B;B	0.22152	0.0;0.038	T	0.11916	-1.0568	10	0.13853	T	0.58	.	8.5207	0.33273	0.1838:0.0:0.5601:0.2561	.	74;74	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	A	74	ENSP00000356379:V74A;ENSP00000294732:V74A	ENSP00000294732:V74A	V	-	2	0	ASPM	195381970	0.003000	0.15002	0.004000	0.12327	0.011000	0.07611	0.005000	0.13129	-0.891000	0.03940	-1.182000	0.01712	GTG		0.607	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		34	239	0	0	0	0.004289	0	34	239				
LHX9	56956	broad.mit.edu	37	1	197890769	197890769	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:197890769A>G	ENST00000367387.4	+	3	1138	c.713A>G	c.(712-714)gAc>gGc	p.D238G	LHX9_ENST00000367390.3_Missense_Mutation_p.D229G|LHX9_ENST00000337020.2_Missense_Mutation_p.D238G|LHX9_ENST00000561173.1_Missense_Mutation_p.D244G|LHX9_ENST00000367391.1_Missense_Mutation_p.D229G	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	238					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGGGAGTGGACATCGTCAAT	0.647																																							uc001guk.1		NA																	0				ovary(1)	1						c.(712-714)GAC>GGC		LIM homeobox 9 isoform 1							23.0	19.0	20.0					1																	197890769		2199	4292	6491	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890769A>G	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.713A>G	1.37:g.197890769A>G	ENSP00000356357:p.Asp238Gly					LHX9_uc001gui.1_Missense_Mutation_p.D229G|LHX9_uc001guj.1_Missense_Mutation_p.D244G	p.D238G	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	1150	+			238					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.713A>G	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802679	0.70682	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.89050	0.54;-2.45;0.45;-2.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	M	0.69185	2.1	0.80722	D	1	B;B;B	0.17038	0.02;0.007;0.016	B;B;B	0.17098	0.016;0.017;0.017	D	0.85268	0.1054	10	0.59425	D	0.04	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	238;229;229	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	G	229;229;238;238	ENSP00000356361:D229G;ENSP00000356360:D229G;ENSP00000337969:D238G;ENSP00000356357:D238G	ENSP00000337969:D238G	D	+	2	0	LHX9	196157392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.756000	0.91651	2.371000	0.80710	0.533000	0.62120	GAC		0.647	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		11	31	0	0	0	0.000978	0	11	31				
PTPRC	5788	broad.mit.edu	37	1	198677283	198677283	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:198677283A>T	ENST00000367376.2	+	10	1091	c.920A>T	c.(919-921)cAt>cTt	p.H307L	PTPRC_ENST00000352140.3_Missense_Mutation_p.H259L|PTPRC_ENST00000594404.1_Missense_Mutation_p.H146L|PTPRC_ENST00000348564.6_Missense_Mutation_p.H148L|PTPRC_ENST00000442510.2_Missense_Mutation_p.H309L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	307					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCAGTTACATGATTGTACA	0.303																																							uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(919-921)CAT>CTT		protein tyrosine phosphatase, receptor type, C							64.0	63.0	63.0					1																	198677283		2203	4294	6497	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198677283A>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.920A>T	1.37:g.198677283A>T	ENSP00000356346:p.His307Leu					PTPRC_uc001gus.1_Missense_Mutation_p.H259L|PTPRC_uc001gut.1_Missense_Mutation_p.H146L|PTPRC_uc009wzf.1_Missense_Mutation_p.H195L|PTPRC_uc010ppg.1_Missense_Mutation_p.H243L	p.H307L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			10	1100	+			307			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.920A>T		.	.	.	.	.	.	.	.	.	.	A	6.754	0.508052	0.12883	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.02395	4.31	5.01	-10.0	0.00425	.	12.861000	0.00166	N	0.000000	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.39187	-0.9626	10	0.23891	T	0.37	.	4.23	0.10599	0.1187:0.0852:0.2607:0.5354	.	243;243;148;259;307	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	L	146;309;243;259;259;193;307;241;146	ENSP00000193532:H259L	ENSP00000306782:H146L	H	+	2	0	PTPRC	196943906	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.264000	0.00263	-2.952000	0.00293	-1.653000	0.00756	CAT		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				19	43	0	0	0	0.008871	0	19	43				
KIF14	9928	broad.mit.edu	37	1	200558480	200558480	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200558480C>A	ENST00000367350.4	-	18	3417	c.2979G>T	c.(2977-2979)agG>agT	p.R993S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	993	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCATTTTTTTCCTTTGAGACT	0.313																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(2977-2979)AGG>AGT		kinesin family member 14							95.0	88.0	90.0					1																	200558480		2202	4300	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200558480C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2979G>T	1.37:g.200558480C>A	ENSP00000356319:p.Arg993Ser					KIF14_uc010ppj.1_Missense_Mutation_p.R502S	p.R993S	NM_014875	NP_055690	Q15058	KIF14_HUMAN			18	3418	-			993			Potential.|Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2979G>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259477	0.59321	.	.	ENSG00000118193	ENST00000367350	T	0.15487	2.42	5.16	3.29	0.37713	.	0.119503	0.53938	D	0.000048	T	0.22475	0.0542	M	0.67953	2.075	0.42258	D	0.992001	P	0.49961	0.93	P	0.47673	0.554	T	0.01541	-1.1329	10	0.52906	T	0.07	.	6.939	0.24483	0.0:0.7037:0.143:0.1533	.	993	Q15058	KIF14_HUMAN	S	993	ENSP00000356319:R993S	ENSP00000356319:R993S	R	-	3	2	KIF14	198825103	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.520000	0.35899	0.571000	0.29365	0.484000	0.47621	AGG		0.313	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	49	1	0	5.9392e-07	0.001168	6.67422e-07	6	49				
KIF14	9928	broad.mit.edu	37	1	200558485	200558485	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200558485G>C	ENST00000367350.4	-	18	3412	c.2974C>G	c.(2974-2976)Caa>Gaa	p.Q992E		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	992	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTTTTCCTTTGAGACTCTTCT	0.313																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(2974-2976)CAA>GAA		kinesin family member 14							84.0	78.0	80.0					1																	200558485		2202	4298	6500	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200558485G>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2974C>G	1.37:g.200558485G>C	ENSP00000356319:p.Gln992Glu					KIF14_uc010ppj.1_Missense_Mutation_p.Q501E	p.Q992E	NM_014875	NP_055690	Q15058	KIF14_HUMAN			18	3413	-			992			Potential.|Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2974C>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123420	0.08931	.	.	ENSG00000118193	ENST00000367350	T	0.15603	2.41	5.25	3.21	0.36854	.	0.332065	0.28219	N	0.016155	T	0.09818	0.0241	N	0.14661	0.345	0.25744	N	0.985128	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.06365	T	0.9	.	17.1137	0.86683	0.0:0.2551:0.7449:0.0	.	992	Q15058	KIF14_HUMAN	E	992	ENSP00000356319:Q992E	ENSP00000356319:Q992E	Q	-	1	0	KIF14	198825108	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.584000	0.53936	1.189000	0.43028	0.555000	0.69702	CAA		0.313	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	49	0	0	0	0.001168	0	6	49				
KIF21B	23046	broad.mit.edu	37	1	200960786	200960786	+	Splice_Site	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200960786T>A	ENST00000422435.2	-	17	2769	c.2453A>T	c.(2452-2454)gAg>gTg	p.E818V	KIF21B_ENST00000360529.5_Splice_Site_p.E818V|KIF21B_ENST00000461742.2_Splice_Site_p.E818V|KIF21B_ENST00000332129.2_Splice_Site_p.E818V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	818					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGAGCTCACCTCCTGGGTCTT	0.607																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(2452-2454)GAG>GTG		kinesin family member 21B							63.0	59.0	60.0					1																	200960786		2203	4300	6503	SO:0001630	splice_region_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200960786T>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2454+1A>T	1.37:g.200960786T>A						KIF21B_uc001gvr.1_Missense_Mutation_p.E818V|KIF21B_uc009wzl.1_Missense_Mutation_p.E818V|KIF21B_uc010ppn.1_Missense_Mutation_p.E818V	p.E818V	NM_017596	NP_060066	O75037	KI21B_HUMAN			17	2770	-			818			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2453A>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822768	0.90873	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.83275	0.991;0.996;0.991;0.996	T	0.55768	-0.8089	10	0.87932	D	0	.	14.3438	0.66646	0.0:0.0:0.0:1.0	.	818;818;818;818	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	818	ENSP00000328494:E818V;ENSP00000353724:E818V;ENSP00000433808:E818V;ENSP00000411831:E818V	ENSP00000328494:E818V	E	-	2	0	KIF21B	199227409	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.049000	0.64244	1.842000	0.53543	0.459000	0.35465	GAG		0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	Missense_Mutation	13	47	0	0	0	0.001855	0	13	47				
CSRP1	1465	broad.mit.edu	37	1	201454441	201454441	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:201454441C>T	ENST00000367306.1	-	6	838	c.475G>A	c.(475-477)Gca>Aca	p.A159T	CSRP1_ENST00000340006.2_Missense_Mutation_p.A159T|CSRP1_ENST00000532460.1_Missense_Mutation_p.A159T|CSRP1_ENST00000526723.1_Missense_Mutation_p.A126T|CSRP1_ENST00000458271.2_5'Flank|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Missense_Mutation_p.A159T			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	159	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						TCCTTGTCTGCCAGGGTGGTT	0.527																																							uc001gws.2		NA																	0				ovary(1)	1						c.(475-477)GCA>ACA		cysteine and glycine-rich protein 1 isoform 1							156.0	139.0	145.0					1																	201454441		2203	4300	6503	SO:0001583	missense	1465					nucleus	zinc ion binding	g.chr1:201454441C>T	M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.475G>A	1.37:g.201454441C>T	ENSP00000356275:p.Ala159Thr					CSRP1_uc001gwr.1_RNA|CSRP1_uc010ppr.1_Missense_Mutation_p.A153T	p.A159T	NM_004078	NP_004069	P21291	CSRP1_HUMAN			5	666	-			159			LIM zinc-binding 2.		A8K268|Q5U0J2	Missense_Mutation	SNP	ENST00000367306.1	37	c.475G>A	CCDS1413.1	.	.	.	.	.	.	.	.	.	.	C	8.750	0.921096	0.17982	.	.	ENSG00000159176	ENST00000367306;ENST00000545649;ENST00000340006;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.68	4.75	0.60458	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.83889	0.5352	N	0.20328	0.56	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.29524	0.016;0.103	T	0.76900	-0.2788	10	0.08599	T	0.76	-8.3631	15.9535	0.79861	0.1361:0.8639:0.0:0.0	.	153;159	B4DY28;P21291	.;CSRP1_HUMAN	T	159;136;159;159;159;126;122	ENSP00000356275:A159T;ENSP00000345079:A159T;ENSP00000434147:A159T;ENSP00000436792:A159T;ENSP00000436491:A126T;ENSP00000437218:A122T	ENSP00000345079:A159T	A	-	1	0	CSRP1	199721064	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	1.733000	0.38156	1.367000	0.46095	0.563000	0.77884	GCA		0.527	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078		37	152	0	0	0	0.002522	0	37	152				
LGR6	59352	broad.mit.edu	37	1	202276032	202276032	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:202276032T>C	ENST00000367278.3	+	13	1262	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	LGR6_ENST00000255432.7_Silent_p.A339A|LGR6_ENST00000439764.2_Silent_p.A252A|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	391					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAATTGGAGCTGACACCTTCA	0.637																																							uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1171-1173)GCT>GCC		leucine-rich repeat-containing G protein-coupled							58.0	56.0	57.0					1																	202276032		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202276032T>C	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1173T>C	1.37:g.202276032T>C						LGR6_uc001gxv.2_Silent_p.A339A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A252A|LGR6_uc009xac.1_RNA	p.A391A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			13	1173	+			391			LRR 13.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1173T>C	CCDS30971.1																																																																																				0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		5	72	0	0	0	0.001168	0	5	72				
PIK3C2B	5287	broad.mit.edu	37	1	204425008	204425008	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:204425008C>T	ENST00000367187.3	-	12	2475	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R640H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	640	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGGGGATGCGGTGGGTGGC	0.612																																							uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(1918-1920)CGC>CAC		phosphoinositide-3-kinase, class 2 beta							56.0	55.0	55.0					1																	204425008		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204425008C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1919G>A	1.37:g.204425008C>T	ENSP00000356155:p.Arg640His					PIK3C2B_uc010pqv.1_Missense_Mutation_p.R640H|PIK3C2B_uc001hax.1_Missense_Mutation_p.R640H|PIK3C2B_uc009xbd.1_RNA	p.R640H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		12	2398	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		640					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1919G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677824	0.88445	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.71222	-0.55;-0.55	5.18	5.18	0.71444	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	L	0.36672	1.1	0.40721	D	0.982664	D;P	0.60575	0.988;0.48	P;B	0.54706	0.759;0.049	T	0.72972	-0.4129	10	0.38643	T	0.18	.	16.4479	0.83947	0.0:1.0:0.0:0.0	.	640;640	F5GWN5;O00750	.;P3C2B_HUMAN	H	640	ENSP00000356155:R640H;ENSP00000400561:R640H	ENSP00000356155:R640H	R	-	2	0	PIK3C2B	202691631	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.086000	0.76885	2.404000	0.81709	0.561000	0.74099	CGC		0.612	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	54	0	0	0	0.006214	0	9	54				
DSTYK	25778	broad.mit.edu	37	1	205126496	205126496	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:205126496T>A	ENST00000367162.3	-	10	2287	c.2257A>T	c.(2257-2259)Aca>Tca	p.T753S	DSTYK_ENST00000367161.3_Missense_Mutation_p.T753S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGCAAACGTGTCTCCAGGGTC	0.488																																							uc001hbw.2		NA																	0				lung(1)	1						c.(2257-2259)ACA>TCA		receptor interacting protein kinase 5 isoform 1							118.0	102.0	107.0					1																	205126496		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126496T>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2257A>T	1.37:g.205126496T>A	ENSP00000356130:p.Thr753Ser					DSTYK_uc001hbx.2_Missense_Mutation_p.T753S	p.T753S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			10	2321	-			753			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2257A>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.521559	0.27211	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.64803	-0.12;-0.12	5.47	1.49	0.22878	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.403165	0.29293	N	0.012566	T	0.44829	0.1312	N	0.24115	0.695	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.19666	0.026;0.02	T	0.20371	-1.0277	10	0.15952	T	0.53	0.0037	13.1882	0.59695	0.0:0.0:0.3722:0.6278	.	753;753	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	S	753	ENSP00000356129:T753S;ENSP00000356130:T753S	ENSP00000356129:T753S	T	-	1	0	DSTYK	203393119	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	2.087000	0.41653	0.427000	0.26145	-0.472000	0.04984	ACA		0.488	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		25	75	0	0	0	0.005443	0	25	75				
CR1	1378	broad.mit.edu	37	1	207751302	207751302	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:207751302T>C	ENST00000367049.4	+	29	4690	c.4690T>C	c.(4690-4692)Tac>Cac	p.Y1564H	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.Y1114H|CR1_ENST00000367052.1_Missense_Mutation_p.Y1114H|CR1_ENST00000400960.2_Missense_Mutation_p.Y1114H|CR1_ENST00000367051.1_Missense_Mutation_p.Y1114H|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1114	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCCTCCATATACTGCACCAG	0.502																																							uc001hfy.2		NA																	0				ovary(3)	3						c.(3340-3342)TAC>CAC		complement receptor 1 isoform F precursor							124.0	122.0	123.0					1																	207751302		1861	4103	5964	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751302T>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4690T>C	1.37:g.207751302T>C	ENSP00000356016:p.Tyr1564His					CR1_uc009xcl.1_Missense_Mutation_p.Y664H|CR1_uc001hfx.2_Missense_Mutation_p.Y1564H	p.Y1114H	NM_000573	NP_000564	P17927	CR1_HUMAN			21	3480	+			1114			Extracellular (Potential).|Sushi 17.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.3340T>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193508	0.09599	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	3.5	-1.74	0.08056	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63686	0.2532	L	0.39514	1.22	0.09310	N	1	D;B;P	0.71674	0.998;0.08;0.673	D;B;B	0.75484	0.986;0.079;0.188	T	0.56189	-0.8020	9	0.19147	T	0.46	.	7.3347	0.26603	0.0:0.5169:0.0:0.4831	.	1114;1114;1564	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	H	1114;1114;1114;1114;664;1564	ENSP00000356019:Y1114H;ENSP00000356018:Y1114H;ENSP00000356020:Y1114H;ENSP00000383744:Y1114H;ENSP00000436139:Y664H;ENSP00000356016:Y1564H	ENSP00000356016:Y1564H	Y	+	1	0	CR1	205817925	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.322000	0.08007	-0.227000	0.09884	0.477000	0.44152	TAC		0.502	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		27	251	0	0	0	0.00623	0	27	251				
LAMB3	3914	broad.mit.edu	37	1	209805972	209805972	+	Missense_Mutation	SNP	C	C	T	rs113063967		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:209805972C>T	ENST00000356082.4	-	8	912	c.778G>A	c.(778-780)Gca>Aca	p.A260T	LAMB3_ENST00000367030.3_Missense_Mutation_p.A260T|LAMB3_ENST00000391911.1_Missense_Mutation_p.A260T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	260	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCTTGGGTGCGCAGCGATCA	0.657																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(778-780)GCA>ACA		laminin, beta 3 precursor							37.0	42.0	40.0					1																	209805972		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209805972C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.778G>A	1.37:g.209805972C>T	ENSP00000348384:p.Ala260Thr					LAMB3_uc009xco.2_Missense_Mutation_p.A260T|LAMB3_uc001hhh.2_Missense_Mutation_p.A260T|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.A196T	p.A260T	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	7	1168	-			260			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.778G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138974	0.56936	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61392	0.11;0.11;0.11	4.59	1.64	0.23874	EGF-like, laminin (3);	0.512651	0.21566	N	0.072498	T	0.50990	0.1648	L	0.42632	1.34	0.09310	N	1	D;D	0.57257	0.958;0.979	B;P	0.51487	0.427;0.671	T	0.44483	-0.9325	10	0.11794	T	0.64	.	8.4155	0.32668	0.0:0.5997:0.0:0.4003	.	260;260	B4DL55;Q13751	.;LAMB3_HUMAN	T	260	ENSP00000375778:A260T;ENSP00000348384:A260T;ENSP00000355997:A260T	ENSP00000348384:A260T	A	-	1	0	LAMB3	207872595	0.003000	0.15002	0.020000	0.16555	0.013000	0.08279	0.224000	0.17738	0.268000	0.21939	0.555000	0.69702	GCA		0.657	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		9	105	0	0	0	0.006214	0	9	105				
SPATA45	149643	broad.mit.edu	37	1	213009242	213009242	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213009242T>C	ENST00000332912.3	-	2	357	c.250A>G	c.(250-252)Atg>Gtg	p.M84V		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		84										kidney(1)|large_intestine(1)|lung(1)	3						TTTCTCTCCATGTGAGCAAGG	0.453																																							uc001hjq.2		NA																	0					0						c.(250-252)ATG>GTG		hypothetical protein LOC149643							90.0	86.0	87.0					1																	213009242		2203	4297	6500	SO:0001583	missense	149643							g.chr1:213009242T>C																												ENST00000332912.3:c.250A>G	1.37:g.213009242T>C	ENSP00000419160:p.Met84Val						p.M84V	NM_001024601	NP_001019772	Q537H7	CA227_HUMAN			2	358	-			84						Missense_Mutation	SNP	ENST00000332912.3	37	c.250A>G	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.228984	0.00280	.	.	ENSG00000185523	ENST00000332912	T	0.40756	1.02	4.71	-9.43	0.00607	.	2.164980	0.01976	N	0.044460	T	0.23451	0.0567	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08994	-1.0695	9	0.36615	T	0.2	6.7586	5.0672	0.14587	0.1001:0.1962:0.5099:0.1938	.	84	Q537H7	CA227_HUMAN	V	84	ENSP00000419160:M84V	ENSP00000419160:M84V	M	-	1	0	C1orf227	211075865	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	-0.086000	0.11233	-2.273000	0.00681	-3.117000	0.00062	ATG		0.453	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			20	108	0	0	0	0.007413	0	20	108				
SPATA45	149643	broad.mit.edu	37	1	213009321	213009321	+	Silent	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213009321G>C	ENST00000332912.3	-	2	278	c.171C>G	c.(169-171)tcC>tcG	p.S57S		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		57										kidney(1)|large_intestine(1)|lung(1)	3						TATCAGTAAAGGACTGATAGG	0.478																																							uc001hjq.2		NA																	0					0						c.(169-171)TCC>TCG		hypothetical protein LOC149643							160.0	148.0	152.0					1																	213009321		2203	4297	6500	SO:0001819	synonymous_variant	149643							g.chr1:213009321G>C																												ENST00000332912.3:c.171C>G	1.37:g.213009321G>C							p.S57S	NM_001024601	NP_001019772	Q537H7	CA227_HUMAN			2	279	-			57						Silent	SNP	ENST00000332912.3	37	c.171C>G	CCDS31020.1																																																																																				0.478	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			45	162	0	0	0	0.00361	0	45	162				
ANGEL2	90806	broad.mit.edu	37	1	213186655	213186655	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213186655C>A	ENST00000366962.3	-	2	319	c.165G>T	c.(163-165)atG>atT	p.M55I	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	55										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CAGGCCACCTCATACAACTAG	0.473																																							uc001hjz.2		NA																	0					0						c.(163-165)ATG>ATT		LOC90806 protein							159.0	154.0	156.0					1																	213186655		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186655C>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.165G>T	1.37:g.213186655C>A	ENSP00000355929:p.Met55Ile					ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Missense_Mutation_p.M33I	p.M55I	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	320	-			55					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.165G>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205549	0.39003	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.23147	1.92	5.53	5.53	0.82687	.	0.226336	0.48286	D	0.000199	T	0.16385	0.0394	N	0.24115	0.695	0.80722	D	1	B;B	0.18863	0.031;0.001	B;B	0.13407	0.009;0.002	T	0.08848	-1.0702	10	0.23302	T	0.38	-12.8129	10.3129	0.43718	0.0:0.8531:0.0:0.1469	.	33;55	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	I	55;33	ENSP00000355929:M55I	ENSP00000309755:M33I	M	-	3	0	ANGEL2	211253278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.149000	0.42244	2.745000	0.94114	0.563000	0.77884	ATG		0.473	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		29	172	1	0	8.88839e-20	0.002096	1.14109e-19	29	172				
USH2A	7399	broad.mit.edu	37	1	215848155	215848155	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:215848155G>T	ENST00000307340.3	-	63	13484	c.13098C>A	c.(13096-13098)gcC>gcA	p.A4366A	USH2A_ENST00000366943.2_Silent_p.A4366A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4366	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCACTGACGGCCCAAAGAT	0.478										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13096-13098)GCC>GCA		usherin isoform B							54.0	55.0	55.0					1																	215848155		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848155G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13098C>A	1.37:g.215848155G>T		HNSCC(13;0.011)					p.A4366A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13485	-			4366			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13098C>A	CCDS31025.1																																																																																				0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	48	1	0	6.50621e-10	0.002836	7.74519e-10	31	48				
USH2A	7399	broad.mit.edu	37	1	216363655	216363655	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:216363655G>T	ENST00000307340.3	-	20	4692	c.4306C>A	c.(4306-4308)Cct>Act	p.P1436T	USH2A_ENST00000366942.3_Missense_Mutation_p.P1436T|USH2A_ENST00000366943.2_Missense_Mutation_p.P1436T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1436	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTATAAGGTTTCAGTCCT	0.388										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4306-4308)CCT>ACT		usherin isoform B							104.0	102.0	103.0					1																	216363655		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216363655G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4306C>A	1.37:g.216363655G>T	ENSP00000305941:p.Pro1436Thr	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.P1436T	p.P1436T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	20	4693	-			1436			Extracellular (Potential).|Fibronectin type-III 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4306C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535495	0.85812	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.68479	-0.33;-0.33;-0.33	5.51	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43416	U	0.000563	D	0.82591	0.5070	M	0.84846	2.72	0.47441	D	0.999429	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.84070	0.0379	10	0.42905	T	0.14	.	14.6043	0.68466	0.0704:0.0:0.9296:0.0	.	1436;1436	O75445-2;O75445	.;USH2A_HUMAN	T	1436	ENSP00000305941:P1436T;ENSP00000355910:P1436T;ENSP00000355909:P1436T	ENSP00000305941:P1436T	P	-	1	0	USH2A	214430278	1.000000	0.71417	0.097000	0.21041	0.746000	0.42486	6.628000	0.74262	1.467000	0.48044	0.655000	0.94253	CCT		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	94	1	0	1.00905e-13	0.008871	1.25275e-13	19	94				
WNT9A	7483	broad.mit.edu	37	1	228109378	228109378	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:228109378G>A	ENST00000272164.5	-	4	949	c.939C>T	c.(937-939)tgC>tgT	p.C313C		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	313					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCTCACGGTGGCACCTACGGC	0.672																																							uc001hri.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(937-939)TGC>TGT		wingless-type MMTV integration site family,							33.0	31.0	32.0					1																	228109378		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109378G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.939C>T	1.37:g.228109378G>A							p.C313C	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	1027	-		Prostate(94;0.0405)	313					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.939C>T	CCDS31045.1																																																																																				0.672	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		8	35	0	0	0	0.004482	0	8	35				
TARBP1	6894	broad.mit.edu	37	1	234529224	234529224	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:234529224T>C	ENST00000040877.1	-	28	4443	c.4444A>G	c.(4444-4446)Agg>Ggg	p.R1482G	TARBP1_ENST00000483404.1_Splice_Site	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1482					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCACAGGTCCTGCACAGTCCT	0.502																																							uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(4444-4446)AGG>GGG		TAR RNA binding protein 1							139.0	126.0	130.0					1																	234529224		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529224T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4444A>G	1.37:g.234529224T>C	ENSP00000040877:p.Arg1482Gly						p.R1482G	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		28	4444	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1482					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4444A>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190379	0.38707	.	.	ENSG00000059588	ENST00000040877	D	0.81996	-1.56	5.2	3.23	0.37069	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	D	0.93406	0.7897	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94436	0.7654	10	0.87932	D	0	-14.521	13.4908	0.61393	0.0:0.0:0.6822:0.3178	.	1482	Q13395	TARB1_HUMAN	G	1482	ENSP00000040877:R1482G	ENSP00000040877:R1482G	R	-	1	2	TARBP1	232595847	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	3.086000	0.50159	0.682000	0.31407	0.528000	0.53228	AGG		0.502	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		9	65	0	0	0	0.006214	0	9	65				
MTR	4548	broad.mit.edu	37	1	236973836	236973836	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:236973836C>T	ENST00000366577.5	+	5	837	c.443C>T	c.(442-444)cCg>cTg	p.P148L	MTR_ENST00000418145.2_Missense_Mutation_p.P204L|MTR_ENST00000535889.1_Missense_Mutation_p.P148L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	148	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTCTGGGTCCGACTAATAAG	0.418																																							uc001hyi.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(442-444)CCG>CTG		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						130.0	141.0	138.0					1																	236973836		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236973836C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.443C>T	1.37:g.236973836C>T	ENSP00000355536:p.Pro148Leu					MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.P148L|MTR_uc010pxy.1_Missense_Mutation_p.P148L|MTR_uc009xgj.1_5'UTR	p.P148L	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	5	866	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	148			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.443C>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404282	0.96051	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000418145;ENST00000535889	T;T;T	0.55588	0.51;0.51;0.51	5.95	5.95	0.96441	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91045	0.4874	10	0.87932	D	0	-5.2418	20.3932	0.98965	0.0:1.0:0.0:0.0	.	148;148;148	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	L	148;148;204;148	ENSP00000355536:P148L;ENSP00000402255:P204L;ENSP00000441845:P148L	ENSP00000355536:P148L	P	+	2	0	MTR	235040459	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.321000	0.79088	2.824000	0.97209	0.655000	0.94253	CCG		0.418	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		29	136	0	0	0	0.008361	0	29	136				
RYR2	6262	broad.mit.edu	37	1	237711753	237711753	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:237711753A>C	ENST00000366574.2	+	26	3246	c.2929A>C	c.(2929-2931)Aag>Cag	p.K977Q	RYR2_ENST00000360064.6_Missense_Mutation_p.K975Q|RYR2_ENST00000542537.1_Missense_Mutation_p.K961Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	977	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGGATACAAGCCTGCCCC	0.423																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2929-2931)AAG>CAG		cardiac muscle ryanodine receptor							55.0	52.0	53.0					1																	237711753		1895	4107	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711753A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2929A>C	1.37:g.237711753A>C	ENSP00000355533:p.Lys977Gln						p.K977Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3049	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	977			Cytoplasmic (By similarity).|2.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2929A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686453	0.88639	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91631	-2.88;-2.88;-2.88	5.81	5.81	0.92471	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000003	D	0.95717	0.8607	M	0.87827	2.91	0.80722	D	1	D	0.59357	0.985	P	0.57057	0.812	D	0.96230	0.9167	10	0.72032	D	0.01	-22.1797	16.167	0.81768	1.0:0.0:0.0:0.0	.	977	Q92736	RYR2_HUMAN	Q	977;975;961	ENSP00000355533:K977Q;ENSP00000353174:K975Q;ENSP00000443798:K961Q	ENSP00000353174:K975Q	K	+	1	0	RYR2	235778376	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.127000	0.94417	2.210000	0.71456	0.533000	0.62120	AAG		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	39	0	0	0	0.001984	0	4	39				
RYR2	6262	broad.mit.edu	37	1	237813350	237813350	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:237813350C>A	ENST00000366574.2	+	50	8003	c.7686C>A	c.(7684-7686)acC>acA	p.T2562T	RYR2_ENST00000360064.6_Silent_p.T2560T|RYR2_ENST00000542537.1_Silent_p.T2546T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2562	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCACTTACCAAAGCTCAGC	0.408																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7684-7686)ACC>ACA		cardiac muscle ryanodine receptor							195.0	187.0	190.0					1																	237813350		1912	4131	6043	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813350C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7686C>A	1.37:g.237813350C>A							p.T2562T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7806	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2562			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7686C>A	CCDS55691.1																																																																																				0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	166	1	0	2.64514e-33	0.00361	3.45646e-33	48	166				
FMN2	56776	broad.mit.edu	37	1	240255602	240255602	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:240255602A>T	ENST00000319653.9	+	1	423	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	65					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGCAAGAAGAAGAGCAAGTC	0.647																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(193-195)AAG>TAG		formin 2							9.0	11.0	10.0					1																	240255602		2195	4290	6485	SO:0001587	stop_gained	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255602A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.193A>T	1.37:g.240255602A>T	ENSP00000318884:p.Lys65*					FMN2_uc010pye.1_Nonsense_Mutation_p.K65*	p.K65*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	418	+	Ovarian(103;0.127)	all_cancers(173;0.013)	65					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	c.193A>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	40	8.204827	0.98704	.	.	ENSG00000155816	ENST00000319653	.	.	.	3.93	3.93	0.45458	.	0.438726	0.20911	N	0.083465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7906	0.52068	1.0:0.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000318884:K65X	K	+	1	0	FMN2	238322225	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	7.892000	0.87324	1.773000	0.52216	0.260000	0.18958	AAG		0.647	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	9	0	0	0	0.001984	0	6	9				
C1orf101	257044	broad.mit.edu	37	1	244715642	244715642	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:244715642A>G	ENST00000366534.4	+	9	609	c.555A>G	c.(553-555)gtA>gtG	p.V185V	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Silent_p.V185V|C1orf101_ENST00000366531.3_Silent_p.V34V	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	185						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTATTGTAGTACCAATGACAA	0.338																																							uc001iam.2		NA																	0				ovary(1)|breast(1)	2						c.(553-555)GTA>GTG		hypothetical protein LOC257044 isoform 1							106.0	103.0	104.0					1																	244715642		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244715642A>G	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.555A>G	1.37:g.244715642A>G						C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Silent_p.V185V|C1orf101_uc010pym.1_Silent_p.V34V|C1orf101_uc010pyn.1_Silent_p.V118V	p.V185V	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	614	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		185			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.555A>G	CCDS44340.1																																																																																				0.338	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		30	82	0	0	0	0.009535	0	30	82				
OR2G3	81469	broad.mit.edu	37	1	247768980	247768980	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:247768980C>G	ENST00000320002.2	+	1	125	c.93C>G	c.(91-93)gtC>gtG	p.V31V	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGTATTTGTCCTTTTCTTCT	0.463																																							uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(91-93)GTC>GTG		olfactory receptor, family 2, subfamily G,							213.0	217.0	215.0					1																	247768980		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247768980C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.93C>G	1.37:g.247768980C>G							p.V31V	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	93	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		31			Helical; Name=1; (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.93C>G	CCDS31093.1																																																																																				0.463	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			10	224	0	0	0	0.006214	0	10	224				
OR11L1	391189	broad.mit.edu	37	1	248004548	248004548	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248004548G>T	ENST00000355784.2	-	1	706	c.651C>A	c.(649-651)ccC>ccA	p.P217P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	217						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAAAACATAGGGCCCCAGTG	0.488																																							uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(649-651)CCC>CCA		olfactory receptor, family 11, subfamily L,							84.0	87.0	86.0					1																	248004548		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004548G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.651C>A	1.37:g.248004548G>T							p.P217P	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	651	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		217			Helical; Name=5; (Potential).			Silent	SNP	ENST00000355784.2	37	c.651C>A	CCDS31098.1																																																																																				0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		12	99	1	0	2.27111e-07	0.001368	2.58487e-07	12	99				
OR2M5	127059	broad.mit.edu	37	1	248309002	248309002	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248309002C>A	ENST00000366476.1	+	1	553	c.553C>A	c.(553-555)Cta>Ata	p.L185I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCCTTCCCTACTAATCCTCTC	0.418																																							uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(553-555)CTA>ATA		olfactory receptor, family 2, subfamily M,							291.0	276.0	281.0					1																	248309002		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309002C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.553C>A	1.37:g.248309002C>A	ENSP00000355432:p.Leu185Ile						p.L185I	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	553	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		185			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.553C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.423475	0.62733	.	.	ENSG00000162727	ENST00000366476	T	0.00302	8.2	3.28	0.72	0.18214	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26669	U	0.023107	T	0.00328	0.0010	L	0.56199	1.76	0.09310	N	1	D	0.55385	0.971	P	0.56278	0.795	T	0.50816	-0.8783	10	0.62326	D	0.03	.	8.4516	0.32873	0.0:0.7138:0.0:0.2862	.	185	A3KFT3	OR2M5_HUMAN	I	185	ENSP00000355432:L185I	ENSP00000355432:L185I	L	+	1	2	OR2M5	246375625	0.000000	0.05858	0.003000	0.11579	0.654000	0.38779	-2.157000	0.01282	0.475000	0.27415	0.492000	0.49549	CTA		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		58	460	1	0	9.53978e-28	0.00361	1.24397e-27	58	460				
OR2T34	127068	broad.mit.edu	37	1	248737392	248737392	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248737392A>G	ENST00000328782.2	-	1	688	c.667T>C	c.(667-669)Tac>Cac	p.Y223H		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGGGTGTATGAGCTGGAG	0.562																																							uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(667-669)TAC>CAC		olfactory receptor, family 2, subfamily T,							147.0	165.0	159.0					1																	248737392		2169	4300	6469	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737392A>G	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.667T>C	1.37:g.248737392A>G	ENSP00000330904:p.Tyr223His						p.Y223H	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	667	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		223			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.667T>C	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.445119	0.43429	.	.	ENSG00000183310	ENST00000328782	T	0.00515	6.87	2.37	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02688	0.0081	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23726	-1.0180	9	0.87932	D	0	.	6.2636	0.20913	0.8624:0.0:0.1376:0.0	.	223	Q8NGX1	O2T34_HUMAN	H	223	ENSP00000330904:Y223H	ENSP00000330904:Y223H	Y	-	1	0	OR2T34	246804015	1.000000	0.71417	0.001000	0.08648	0.230000	0.25150	7.032000	0.76498	0.084000	0.17077	0.104000	0.15600	TAC		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		26	292	0	0	0	0.004656	0	26	292				
OR14I1	401994	broad.mit.edu	37	1	248845570	248845570	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248845570C>G	ENST00000342623.3	-	1	59	c.36G>C	c.(34-36)ctG>ctC	p.L12L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAACTCCATCAGCAGGAATT	0.443																																							uc001ieu.1		NA																	0					0						c.(34-36)CTG>CTC		olfactory receptor, family 14, subfamily I,							49.0	49.0	49.0					1																	248845570		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845570C>G		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.36G>C	1.37:g.248845570C>G							p.L12L	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	36	-			12			Extracellular (Potential).			Silent	SNP	ENST00000342623.3	37	c.36G>C	CCDS31125.1																																																																																				0.443	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		24	34	0	0	0	0.004656	0	24	34				
PGBD2	267002	broad.mit.edu	37	1	249211112	249211112	+	Missense_Mutation	SNP	G	G	A	rs146329960		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:249211112G>A	ENST00000329291.5	+	3	476	c.329G>A	c.(328-330)cGc>cAc	p.R110H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.R107H|PGBD2_ENST00000462488.1_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	110								p.R110H(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCAGCGCATTTGGACC	0.527													g|||	1	0.000199681	0.0	0.0	5008	,	,		20327	0.001		0.0	False		,,,				2504	0.0						uc001ifh.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(328-330)CGC>CAC		hypothetical protein LOC267002 isoform a		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	59.0	57.0		,329	-0.3	0.0	1	dbSNP_134	57	0,8600		0,0,4300	no	intron,missense	PGBD2	NM_001017434.1,NM_170725.2	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,110/593	249211112	1,13005	2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211112G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.329G>A	1.37:g.249211112G>A	ENSP00000331643:p.Arg110His					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.R107H	p.R110H	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	476	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	110					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.329G>A	CCDS31128.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.009	0.556389	0.13436	2.27E-4	0.0	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.11821	2.74;2.74	3.84	-0.306	0.12780	.	.	.	.	.	T	0.09730	0.0239	L	0.44542	1.39	0.09310	N	1	B;B	0.19817	0.036;0.039	B;B	0.13407	0.009;0.003	T	0.36601	-0.9741	9	0.27785	T	0.31	-24.2876	3.8909	0.09119	0.3183:0.1796:0.5022:0.0	.	107;110	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	110;107	ENSP00000331643:R110H;ENSP00000439950:R107H	ENSP00000331643:R110H	R	+	2	0	PGBD2	247177735	0.017000	0.18338	0.001000	0.08648	0.014000	0.08584	0.798000	0.27014	-0.142000	0.11354	0.655000	0.94253	CGC		0.527	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			5	69	0	0	0	0.000602	0	5	69				
ADARB2	105	broad.mit.edu	37	10	1279656	1279656	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:1279656G>A	ENST00000381312.1	-	6	1818	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	498	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GATCTCGTAGGGAGAGTGGAG	0.552																																							uc009xhq.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1492-1494)CCC>CTC		adenosine deaminase, RNA-specific, B2							179.0	161.0	167.0					10																	1279656		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1279656G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1493C>T	10.37:g.1279656G>A	ENSP00000370713:p.Pro498Leu						p.P498L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	6	1867	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	498			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1493C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785510	0.70337	.	.	ENSG00000185736	ENST00000381312	D	0.93488	-3.23	5.5	5.5	0.81552	Adenosine deaminase/editase (3);	0.108661	0.64402	D	0.000004	D	0.96377	0.8818	M	0.70903	2.155	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.96227	0.9165	10	0.56958	D	0.05	-40.1601	19.3938	0.94596	0.0:0.0:1.0:0.0	.	498	Q9NS39	RED2_HUMAN	L	498	ENSP00000370713:P498L	ENSP00000370713:P498L	P	-	2	0	ADARB2	1269656	1.000000	0.71417	0.979000	0.43373	0.180000	0.23129	9.716000	0.98752	2.568000	0.86640	0.563000	0.77884	CCC		0.552	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		22	135	0	0	0	0.001882	0	22	135				
ITIH5	80760	broad.mit.edu	37	10	7608296	7608296	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:7608296G>A	ENST00000256861.6	-	13	2302	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.R524C|ITIH5_ENST00000298441.6_Missense_Mutation_p.R528C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	742					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R742C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGATAGTGCGCAAGTAAGTG	0.527																																							uc001ijq.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|central_nervous_system(2)	4						c.(2224-2226)CGC>TGC		inter-alpha trypsin inhibitor heavy chain							111.0	95.0	101.0					10																	7608296		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608296G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2224C>T	10.37:g.7608296G>A	ENSP00000256861:p.Arg742Cys					ITIH5_uc001ijp.2_Missense_Mutation_p.R528C	p.R742C	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2303	-			742					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2224C>T		.	.	.	.	.	.	.	.	.	.	G	18.09	3.547292	0.65311	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12255	2.7;2.7;2.7	5.84	0.122	0.14702	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.297109	0.45126	D	0.000385	T	0.29093	0.0723	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.857	T	0.02917	-1.1094	9	0.72032	D	0.01	-6.0799	9.4182	0.38534	0.0:0.4035:0.2912:0.3054	.	742;528	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	C	742;528;524	ENSP00000256861:R742C;ENSP00000298441:R528C;ENSP00000387969:R524C	ENSP00000256861:R742C	R	-	1	0	ITIH5	7648302	1.000000	0.71417	0.991000	0.47740	0.642000	0.38348	3.485000	0.53208	0.035000	0.15519	-0.165000	0.13383	CGC		0.527	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		10	42	0	0	0	0.008291	0	10	42				
TAF3	83860	broad.mit.edu	37	10	7866286	7866286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:7866286C>T	ENST00000344293.5	+	2	378	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	58					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAGATGGCCGAACAGACCC	0.353																																							uc010qbd.1		NA																	0				ovary(1)	1						c.(172-174)CGA>TGA		RNA polymerase II transcription factor TAFII140							136.0	120.0	125.0					10																	7866286		1844	4091	5935	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7866286C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.172C>T	10.37:g.7866286C>T	ENSP00000340271:p.Arg58*						p.R58*	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	172	+			58					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.172C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	39	7.387866	0.98252	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	.	.	.	5.43	5.43	0.79202	.	0.000000	0.35466	N	0.003186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9643	19.2581	0.93955	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000340271:R58X	R	+	1	2	TAF3	7906292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.045000	0.71020	2.547000	0.85894	0.655000	0.94253	CGA		0.353	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		21	142	0	0	0	0.00278	0	21	142				
CELF2	10659	broad.mit.edu	37	10	11367850	11367850	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:11367850A>G	ENST00000379261.4	+	12	1399	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	CELF2_ENST00000416382.2_Missense_Mutation_p.D436G|CELF2_ENST00000354897.3_Missense_Mutation_p.D430G|CELF2_ENST00000609692.1_Intron|CELF2_ENST00000427450.1_Missense_Mutation_p.D418G|CELF2_ENST00000417956.2_Missense_Mutation_p.D416G|CELF2_ENST00000537122.1_Missense_Mutation_p.D331G|CELF2_ENST00000315874.4_Missense_Mutation_p.D418G|CELF2_ENST00000450189.1_Missense_Mutation_p.D449G|CELF2_ENST00000542579.1_Missense_Mutation_p.D449G|CELF2_ENST00000608830.1_Missense_Mutation_p.D416G|CELF2_ENST00000354440.2_Missense_Mutation_p.D418G|CELF2_ENST00000399850.3_Missense_Mutation_p.D418G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	436	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GAATTTGGAGACCAGGACATT	0.418																																							uc001iki.3		NA																	0					0						c.(1306-1308)GAC>GGC		CUG triplet repeat, RNA binding protein 2							138.0	125.0	129.0					10																	11367850		1871	4106	5977	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11367850A>G	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1307A>G	10.37:g.11367850A>G	ENSP00000368563:p.Asp436Gly					CELF2_uc010qbj.1_Missense_Mutation_p.D442G|CELF2_uc001ikk.2_Missense_Mutation_p.D461G|CELF2_uc001ikl.3_Missense_Mutation_p.D449G|CELF2_uc010qbl.1_Missense_Mutation_p.D412G|CELF2_uc010qbm.1_Missense_Mutation_p.D208G|CELF2_uc001iko.3_Missense_Mutation_p.D416G|CELF2_uc001ikp.3_Missense_Mutation_p.D418G|CELF2_uc010qbn.1_Missense_Mutation_p.D424G|CELF2_uc010qbo.1_Missense_Mutation_p.D331G|CELF2_uc010qbp.1_Missense_Mutation_p.D208G	p.D436G	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			12	1399	+			436			RRM 3.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1307A>G	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914494	0.92178	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.997;0.983;0.978;1.0;0.998	D;D;D;D;D;D	0.97110	1.0;0.999;0.982;0.962;1.0;1.0	T	0.59473	-0.7448	10	0.87932	D	0	-19.3242	15.1706	0.72869	1.0:0.0:0.0:0.0	.	424;442;437;449;449;436	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	G	436;436;449;449;418;416;418;418;426;418;331;242	ENSP00000368563:D436G;ENSP00000406451:D436G;ENSP00000389951:D449G;ENSP00000443926:D449G;ENSP00000382743:D418G;ENSP00000404834:D416G;ENSP00000315328:D418G;ENSP00000346426:D418G;ENSP00000388530:D418G;ENSP00000438884:D331G	ENSP00000315328:D418G	D	+	2	0	CELF2	11407856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.980000	0.57719	0.528000	0.53228	GAC		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				15	86	0	0	0	0.003163	0	15	86				
DHTKD1	55526	broad.mit.edu	37	10	12131255	12131255	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:12131255G>T	ENST00000263035.4	+	5	1049		c.e5+1		DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1						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)			TTGCTTACAGGTACTTGGAGC	0.557																																							uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e5+1		dehydrogenase E1 and transketolase domain							35.0	38.0	37.0					10																	12131255		2203	4297	6500	SO:0001630	splice_region_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131255G>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.987+1G>T	10.37:g.12131255G>T							p.Q329_splice	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	1086	+		Renal(717;0.228)						Q68CU5|Q9BUM8|Q9HCE2	Splice_Site	SNP	ENST00000263035.4	37	c.987_splice	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256882	0.59321	.	.	ENSG00000181192	ENST00000263035;ENST00000437298;ENST00000415935	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2273	0.93822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHTKD1	12171261	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.868000	0.87116	2.543000	0.85770	0.563000	0.77884	.		0.557	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	Intron	19	69	1	0	1.2644e-06	0.010504	1.40943e-06	19	69				
FAM107B	83641	broad.mit.edu	37	10	14816530	14816530	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:14816530C>G	ENST00000181796.2	-	1	366	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATCAGCCACGCCGGACTGA	0.552																																							uc001ina.1		NA																	0				breast(4)	4						c.(133-135)GTG>CTG		hypothetical protein LOC83641							102.0	86.0	91.0					10																	14816530		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816530C>G	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.133G>C	10.37:g.14816530C>G	ENSP00000181796:p.Val45Leu					FAM107B_uc010qbu.1_RNA	p.V45L	NM_031453	NP_113641	Q9H098	F107B_HUMAN			1	367	-			Error:Variant_position_missing_in_Q9H098_after_alignment					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.133G>C	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190191	0.21954	.	.	ENSG00000065809	ENST00000181796	T	0.45668	0.89	5.85	-10.5	0.00291	.	2.186060	0.02198	N	0.062055	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.26483	0.15	B	0.22880	0.042	T	0.11494	-1.0585	10	0.42905	T	0.14	-24.5452	0.7967	0.01067	0.223:0.1926:0.184:0.4005	.	45	Q9H098-2	.	L	45	ENSP00000181796:V45L	ENSP00000181796:V45L	V	-	1	0	FAM107B	14856536	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.230000	0.00548	-1.509000	0.01798	-0.878000	0.02970	GTG		0.552	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		23	107	0	0	0	0.002299	0	23	107				
CUBN	8029	broad.mit.edu	37	10	16867008	16867008	+	Missense_Mutation	SNP	C	C	T	rs148626202		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:16867008C>T	ENST00000377833.4	-	67	10903	c.10838G>A	c.(10837-10839)cGt>cAt	p.R3613H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3613	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCGGATGGACGCCGTGCATA	0.463																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10837-10839)CGT>CAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	86.0	97.0		10838	-10.9	0.0	10	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUBN	NM_001081.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3613/3624	16867008	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16867008C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10838G>A	10.37:g.16867008C>T	ENSP00000367064:p.Arg3613His						p.R3613H	NM_001081	NP_001072	O60494	CUBN_HUMAN			67	10890	-			3613			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10838G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	c	7.520	0.656524	0.14580	2.27E-4	1.16E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18174	2.23	5.43	-10.9	0.00192	CUB (5);	3.943120	0.00508	N	0.000178	T	0.08403	0.0209	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25745	-1.0123	10	0.14656	T	0.56	.	1.8473	0.03162	0.2954:0.1944:0.0847:0.4255	.	3613	O60494	CUBN_HUMAN	H	3613;454	ENSP00000367064:R3613H	ENSP00000367064:R3613H	R	-	2	0	CUBN	16907014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.040000	0.03546	-2.113000	0.00833	-1.486000	0.00981	CGT		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	39	0	0	0	0.00308	0	7	39				
CUBN	8029	broad.mit.edu	37	10	17110253	17110253	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:17110253T>A	ENST00000377833.4	-	21	2883	c.2818A>T	c.(2818-2820)Aca>Tca	p.T940S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	940	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGTCCCTGTTGATTCTGTA	0.373																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2818-2820)ACA>TCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						125.0	124.0	125.0					10																	17110253		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110253T>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2818A>T	10.37:g.17110253T>A	ENSP00000367064:p.Thr940Ser						p.T940S	NM_001081	NP_001072	O60494	CUBN_HUMAN			21	2870	-			940			CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2818A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072244	0.01918	.	.	ENSG00000107611	ENST00000377833	T	0.16196	2.36	5.49	1.31	0.21738	CUB (5);	0.964630	0.08491	N	0.938053	T	0.04318	0.0119	N	0.01134	-0.995	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42032	-0.9475	10	0.16896	T	0.51	.	1.3015	0.02080	0.1835:0.2852:0.1067:0.4246	.	940	O60494	CUBN_HUMAN	S	940	ENSP00000367064:T940S	ENSP00000367064:T940S	T	-	1	0	CUBN	17150259	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.204000	0.09425	0.372000	0.24591	-0.315000	0.08773	ACA		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	142	0	0	0	0.001984	0	7	142				
SLC39A12	221074	broad.mit.edu	37	10	18331738	18331738	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:18331738A>T	ENST00000377369.2	+	13	2325	c.2052A>T	c.(2050-2052)atA>atT	p.I684I	SLC39A12_ENST00000377371.3_Silent_p.I683I|SLC39A12_ENST00000377374.4_Silent_p.I647I|SLC39A12_ENST00000539911.1_Silent_p.I550I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	684					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTTGGCTATATATGAGCAAA	0.343																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(2050-2052)ATA>ATT		solute carrier family 39 (zinc transporter),							80.0	78.0	79.0					10																	18331738		2203	4299	6502	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18331738A>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2052A>T	10.37:g.18331738A>T						SLC39A12_uc001ipn.2_Silent_p.I647I|SLC39A12_uc001ipp.2_Silent_p.I683I|SLC39A12_uc010qck.1_Silent_p.I550I	p.I684I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			13	2325	+			684			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.2052A>T	CCDS44362.1																																																																																				0.343	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		17	51	0	0	0	0.00499	0	17	51				
CACNB2	783	broad.mit.edu	37	10	18439885	18439885	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:18439885C>G	ENST00000324631.7	+	2	254	c.194C>G	c.(193-195)tCa>tGa	p.S65*	CACNB2_ENST00000282343.8_Nonsense_Mutation_p.S37*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.S37*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.S65*|CACNB2_ENST00000377328.1_Nonsense_Mutation_p.S65*|CACNB2_ENST00000467034.1_3'UTR	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	65					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATACTACCTCAAATAGTTTT	0.308																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(193-195)TCA>TGA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						130.0	138.0	136.0					10																	18439885		2203	4300	6503	SO:0001587	stop_gained	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18439885C>G	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.194C>G	10.37:g.18439885C>G	ENSP00000320025:p.Ser65*					CACNB2_uc009xjz.1_Nonsense_Mutation_p.S65*|CACNB2_uc001ips.2_Nonsense_Mutation_p.S65*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.S65*|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Nonsense_Mutation_p.S37*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.S37*|CACNB2_uc009xka.1_Nonsense_Mutation_p.S37*	p.S65*	NM_201596	NP_963890	Q08289	CACB2_HUMAN			2	254	+			65					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Nonsense_Mutation	SNP	ENST00000324631.7	37	c.194C>G	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190352	0.94923	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331	.	.	.	5.93	5.93	0.95920	.	0.954825	0.08679	N	0.909750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.8431	19.1254	0.93380	0.0:1.0:0.0:0.0	.	.	.	.	X	65;65;65;37;37	.	ENSP00000282343:S37X	S	+	2	0	CACNB2	18479891	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.828000	0.62730	2.826000	0.97356	0.655000	0.94253	TCA		0.308	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		31	99	0	0	0	0.004289	0	31	99				
PLXDC2	84898	broad.mit.edu	37	10	20432341	20432341	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:20432341A>G	ENST00000377252.4	+	5	1500	c.659A>G	c.(658-660)gAt>gGt	p.D220G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D171G|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	220					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGATATTTTGATAATGGTATG	0.338																																							uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(658-660)GAT>GGT		plexin domain containing 2 precursor							118.0	115.0	116.0					10																	20432341		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20432341A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.659A>G	10.37:g.20432341A>G	ENSP00000366460:p.Asp220Gly					PLXDC2_uc001iqh.1_Missense_Mutation_p.D171G|PLXDC2_uc009xkc.1_RNA	p.D220G	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			5	1296	+			220			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.659A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494522	0.85069	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.75938	-0.98;-0.98	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88028	0.6327	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89675	0.3886	10	0.62326	D	0.03	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	171;220	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	G	220;171;83;206	ENSP00000366460:D220G;ENSP00000366450:D171G	ENSP00000366446:D83G	D	+	2	0	PLXDC2	20472347	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.226000	0.95229	2.225000	0.72522	0.460000	0.39030	GAT		0.338	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		12	90	0	0	0	0.001368	0	12	90				
GPR158	57512	broad.mit.edu	37	10	25861745	25861745	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:25861745A>C	ENST00000376351.3	+	7	2041	c.1682A>C	c.(1681-1683)cAg>cCg	p.Q561P		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	561					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTATTGGCCAGGGGAAAACA	0.448																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1681-1683)CAG>CCG		G protein-coupled receptor 158 precursor							192.0	143.0	160.0					10																	25861745		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861745A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1682A>C	10.37:g.25861745A>C	ENSP00000365529:p.Gln561Pro						p.Q561P	NM_020752	NP_065803	Q5T848	GP158_HUMAN			7	1742	+			561			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1682A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236770	0.58886	.	.	ENSG00000151025	ENST00000376351	D	0.88046	-2.33	5.67	5.67	0.87782	GPCR, family 3, C-terminal (2);	0.202214	0.33496	N	0.004849	D	0.87148	0.6105	L	0.34521	1.04	0.42057	D	0.991141	D	0.58268	0.982	P	0.61132	0.884	D	0.85565	0.1230	10	0.31617	T	0.26	.	10.2805	0.43537	0.9263:0.0:0.0737:0.0	.	561	Q5T848	GP158_HUMAN	P	561	ENSP00000365529:Q561P	ENSP00000365529:Q561P	Q	+	2	0	GPR158	25901751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.803000	0.62546	2.161000	0.67846	0.455000	0.32223	CAG		0.448	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	55	0	0	0	0.000602	0	5	55				
SVIL	6840	broad.mit.edu	37	10	29815987	29815987	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:29815987T>C	ENST00000355867.4	-	13	2999		c.e13-2		SVIL_ENST00000375398.2_Splice_Site|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin						cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATAGGTTCACTTTAAAAGCAA	0.453																																							uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.e13-1		supervillin isoform 2							42.0	38.0	39.0					10																	29815987		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29815987T>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2247-2A>G	10.37:g.29815987T>C						SVIL_uc001iuu.1_Intron	p.T749_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN			13	3000	-		Breast(68;0.103)						D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.2247_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501614	0.85176	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.167	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVIL	29855993	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.578000	0.74032	2.210000	0.71456	0.533000	0.62120	.		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Intron	3	25	0	0	0	0.009096	0	3	25				
LYZL2	119180	broad.mit.edu	37	10	30918551	30918551	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:30918551A>G	ENST00000375318.2	-	1	140	c.84T>C	c.(82-84)tcT>tcC	p.S28S		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCCTGCCGCAGAGGCTGACT	0.527																																							uc001ivk.2		NA																	0					0						c.(82-84)TCT>TCC		lysozyme-like 2							80.0	72.0	74.0					10																	30918551		2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30918551A>G	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.84T>C	10.37:g.30918551A>G							p.S28S	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			1	97	-		Prostate(175;0.151)	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.84T>C	CCDS7167.2																																																																																				0.527	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		12	49	0	0	0	0.001368	0	12	49				
ZNF438	220929	broad.mit.edu	37	10	31133931	31133931	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:31133931T>C	ENST00000361310.3	-	7	2775	c.2446A>G	c.(2446-2448)Aac>Gac	p.N816D	ZNF438_ENST00000331737.6_Missense_Mutation_p.N806D|ZNF438_ENST00000538351.2_Missense_Mutation_p.N767D|ZNF438_ENST00000413025.1_Missense_Mutation_p.N816D|ZNF438_ENST00000375311.1_Missense_Mutation_p.N380D|ZNF438_ENST00000442986.1_Missense_Mutation_p.N816D|ZNF438_ENST00000444692.2_Missense_Mutation_p.N806D|ZNF438_ENST00000436087.2_Missense_Mutation_p.N816D|ZNF438_ENST00000452305.1_Missense_Mutation_p.N806D			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	816					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACTCCCTGGTTGGAGACCGTA	0.532																																							uc010qdz.1		NA																	0				ovary(1)|breast(1)	2						c.(2446-2448)AAC>GAC		zinc finger protein 438 isoform a							180.0	181.0	181.0					10																	31133931		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133931T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2446A>G	10.37:g.31133931T>C	ENSP00000354663:p.Asn816Asp					ZNF438_uc001ivn.2_Missense_Mutation_p.N767D|ZNF438_uc010qdy.1_Missense_Mutation_p.N806D|ZNF438_uc001ivo.3_Missense_Mutation_p.N380D|ZNF438_uc009xlg.2_Missense_Mutation_p.N816D|ZNF438_uc001ivp.3_Missense_Mutation_p.N806D|ZNF438_uc010qea.1_Missense_Mutation_p.N816D|ZNF438_uc010qeb.1_Missense_Mutation_p.N816D	p.N816D	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			8	2881	-		Prostate(175;0.0587)	816					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2446A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754658	0.31046	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10382	2.93;2.94;2.94;2.94;2.94;2.93;2.93;2.95;2.88	5.5	0.159	0.14968	.	1.147120	0.06018	N	0.650820	T	0.09024	0.0223	L	0.40543	1.245	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.003;0.007	T	0.40942	-0.9536	10	0.42905	T	0.14	-1.8169	2.5592	0.04768	0.1159:0.1422:0.135:0.607	.	816;806	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	D	806;816;816;816;816;806;806;767;535;380	ENSP00000333571:N806D;ENSP00000354663:N816D;ENSP00000406934:N816D;ENSP00000412363:N816D;ENSP00000387546:N816D;ENSP00000413060:N806D;ENSP00000410898:N806D;ENSP00000445461:N767D;ENSP00000364460:N380D	ENSP00000333571:N806D	N	-	1	0	ZNF438	31173937	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	0.116000	0.15561	0.130000	0.18549	0.533000	0.62120	AAC		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		14	278	0	0	0	0.003163	0	14	278				
ZNF438	220929	broad.mit.edu	37	10	31137810	31137810	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:31137810T>C	ENST00000361310.3	-	6	1853	c.1524A>G	c.(1522-1524)agA>agG	p.R508R	ZNF438_ENST00000331737.6_Silent_p.R498R|ZNF438_ENST00000538351.2_Silent_p.R459R|ZNF438_ENST00000413025.1_Silent_p.R508R|ZNF438_ENST00000375311.1_Silent_p.R72R|ZNF438_ENST00000442986.1_Silent_p.R508R|ZNF438_ENST00000444692.2_Silent_p.R498R|ZNF438_ENST00000436087.2_Silent_p.R508R|ZNF438_ENST00000452305.1_Silent_p.R498R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	508					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGACGTGACATCTGTGCCAAG	0.488																																							uc010qdz.1		NA																	0				ovary(1)|breast(1)	2						c.(1522-1524)AGA>AGG		zinc finger protein 438 isoform a							188.0	187.0	187.0					10																	31137810		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137810T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1524A>G	10.37:g.31137810T>C						ZNF438_uc001ivn.2_Silent_p.R459R|ZNF438_uc010qdy.1_Silent_p.R498R|ZNF438_uc001ivo.3_Silent_p.R72R|ZNF438_uc009xlg.2_Silent_p.R508R|ZNF438_uc001ivp.3_Silent_p.R498R|ZNF438_uc010qea.1_Silent_p.R508R|ZNF438_uc010qeb.1_Silent_p.R508R|ZNF438_uc010qec.1_Silent_p.R72R	p.R508R	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1959	-		Prostate(175;0.0587)	508			C2H2-type 1.		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1524A>G	CCDS7168.1																																																																																				0.488	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		16	251	0	0	0	0.00499	0	16	251				
ANKRD30A	91074	broad.mit.edu	37	10	37486217	37486217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:37486217G>T	ENST00000602533.1	+	28	2554	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*	ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.E938*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E819*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	875					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGCCTCCCGAGAAGCCATC	0.323																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(2455-2457)GAG>TAG		ankyrin repeat domain 30A							199.0	164.0	175.0					10																	37486217		1811	4086	5897	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486217G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2455G>T	10.37:g.37486217G>T	ENSP00000473551:p.Glu819*						p.E819*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			28	2554	+			875					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.2455G>T		.	.	.	.	.	.	.	.	.	.	.	29.3	4.995521	0.93167	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	1.36	-0.86	0.10680	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	3.8149	0.08811	0.5279:0.0:0.4721:0.0	.	.	.	.	X	819;938	.	ENSP00000354432:E819X	E	+	1	0	ANKRD30A	37526223	0.062000	0.20869	0.003000	0.11579	0.001000	0.01503	0.217000	0.17603	-0.078000	0.12730	-0.400000	0.06385	GAG		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		60	157	1	0	1.84395e-34	0.00361	2.41207e-34	60	157				
ZNF37A	7587	broad.mit.edu	37	10	38406690	38406690	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:38406690A>T	ENST00000361085.5	+	7	956	c.611A>T	c.(610-612)gAa>gTa	p.E204V	ZNF37A_ENST00000351773.3_Missense_Mutation_p.E204V	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TATGGTAATGAATGTGGAGAA	0.383																																							uc001izk.2		NA																	0				breast(1)	1						c.(610-612)GAA>GTA		zinc finger protein 37a							78.0	76.0	77.0					10																	38406690		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406690A>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.611A>T	10.37:g.38406690A>T	ENSP00000354377:p.Glu204Val					ZNF37A_uc001izl.2_Missense_Mutation_p.E204V|ZNF37A_uc001izm.2_Missense_Mutation_p.E204V	p.E204V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1430	+			204					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.611A>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	6.960	0.547069	0.13312	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07688	3.17;3.17	2.34	2.34	0.29019	.	.	.	.	.	T	0.16981	0.0408	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.05818	-1.0862	9	0.87932	D	0	.	8.2277	0.31579	1.0:0.0:0.0:0.0	.	204	P17032	ZN37A_HUMAN	V	204	ENSP00000329141:E204V;ENSP00000354377:E204V	ENSP00000329141:E204V	E	+	2	0	ZNF37A	38446696	0.005000	0.15991	0.129000	0.21949	0.004000	0.04260	1.805000	0.38883	1.082000	0.41137	0.482000	0.46254	GAA		0.383	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		26	60	0	0	0	0.008361	0	26	60				
ZNF239	8187	broad.mit.edu	37	10	44052263	44052263	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:44052263T>C	ENST00000306006.6	-	2	1917	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q422R|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q422R|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q422R	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGTACTCTCTGGTGGATGAG	0.522																																							uc001jaw.3		NA																	0					0						c.(1264-1266)CAG>CGG		zinc finger protein 239							73.0	80.0	78.0					10																	44052263		2200	4300	6500	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052263T>C	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.1265A>G	10.37:g.44052263T>C	ENSP00000307774:p.Gln422Arg					ZNF239_uc001jax.3_Missense_Mutation_p.Q422R|ZNF239_uc009xmj.2_Missense_Mutation_p.Q422R|ZNF239_uc009xmk.2_Missense_Mutation_p.Q422R	p.Q422R	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1918	-			422			C2H2-type 8.		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.1265A>G	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632292	0.46944	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.67	3.67	0.42095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	L	0.37850	1.14	0.26943	N	0.966194	D	0.63880	0.993	D	0.77004	0.989	T	0.21042	-1.0257	9	0.62326	D	0.03	-23.9722	9.0464	0.36349	0.0:0.0:0.0:1.0	.	422	Q16600	ZN239_HUMAN	R	422	ENSP00000307774:Q422R;ENSP00000363569:Q422R;ENSP00000398202:Q422R;ENSP00000443907:Q422R	ENSP00000307774:Q422R	Q	-	2	0	ZNF239	43372269	0.467000	0.25831	1.000000	0.80357	0.986000	0.74619	0.674000	0.25218	1.907000	0.55213	0.528000	0.53228	CAG		0.522	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			6	55	0	0	0	0.001168	0	6	55				
ZFAND4	93550	broad.mit.edu	37	10	46111911	46111911	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:46111911A>G	ENST00000344646.5	-	10	2372	c.2157T>C	c.(2155-2157)gtT>gtC	p.V719V	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000374366.3_Silent_p.V645V	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	719							zinc ion binding (GO:0008270)										TTGGTGCATTAACCACAGGAT	0.408																																							uc001jcp.3		NA																	0					0						c.(2155-2157)GTT>GTC		AN1, ubiquitin-like, homolog							180.0	164.0	170.0					10																	46111911		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46111911A>G	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2157T>C	10.37:g.46111911A>G						ANUBL1_uc001jcl.3_Silent_p.V239V|ANUBL1_uc001jcm.3_Silent_p.V719V|ANUBL1_uc009xmu.2_Silent_p.V645V|ANUBL1_uc001jcn.3_Silent_p.V645V|ANUBL1_uc001jco.3_3'UTR	p.V719V	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			10	2399	-			719					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.2157T>C	CCDS7214.1																																																																																				0.408	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		9	125	0	0	0	0.004482	0	9	125				
PCDH15	65217	broad.mit.edu	37	10	55582643	55582643	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55582643A>G	ENST00000320301.6	-	33	5237	c.4843T>C	c.(4843-4845)Tgt>Cgt	p.C1615R	PCDH15_ENST00000395430.1_Missense_Mutation_p.C1612R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.C1592R|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.C1617R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.C1575R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.C1546R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1615					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTTTGTACAGATTCCAGTG	0.428										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4843-4845)TGT>CGT		protocadherin 15 isoform CD1-4 precursor							196.0	189.0	191.0					10																	55582643		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582643A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4843T>C	10.37:g.55582643A>G	ENSP00000322604:p.Cys1615Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.C1612R|PCDH15_uc010qhw.1_Missense_Mutation_p.C1575R|PCDH15_uc010qhx.1_Missense_Mutation_p.C1546R|PCDH15_uc010qhy.1_Missense_Mutation_p.C1622R|PCDH15_uc010qhz.1_Missense_Mutation_p.C1617R|PCDH15_uc010qia.1_Missense_Mutation_p.C1595R|PCDH15_uc010qib.1_Missense_Mutation_p.C1592R	p.C1615R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5238	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1615			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4843T>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	5.320	0.244351	0.10077	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54675	0.59;0.56;0.61;0.58;0.58;0.59	5.09	-3.78	0.04333	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.16396	0.009;0.017;0.008;0.017;0.015;0.017;0.009;0.009	B;B;B;B;B;B;B;B	0.20184	0.028;0.003;0.003;0.003;0.004;0.003;0.021;0.003	T	0.18023	-1.0350	9	0.24483	T	0.36	.	4.9535	0.14027	0.1758:0.1327:0.5427:0.1488	.	1592;1615;1617;1622;1546;1575;1612;1615	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	R	1575;1617;1592;1615;1612;1622;1546	ENSP00000378820:C1575R;ENSP00000354950:C1617R;ENSP00000378821:C1592R;ENSP00000322604:C1615R;ENSP00000378818:C1612R;ENSP00000412628:C1546R	ENSP00000322604:C1615R	C	-	1	0	PCDH15	55252649	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.169000	0.16641	-0.632000	0.05553	-1.017000	0.02453	TGT		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		31	127	0	0	0	0.003755	0	31	127				
PCDH15	65217	broad.mit.edu	37	10	55582862	55582862	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55582862T>C	ENST00000320301.6	-	33	5018	c.4624A>G	c.(4624-4626)Att>Gtt	p.I1542V	PCDH15_ENST00000395430.1_Missense_Mutation_p.I1539V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1519V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1544V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1502V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1473V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1542					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTGTGAAATGTCTGAATTT	0.393										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4624-4626)ATT>GTT		protocadherin 15 isoform CD1-4 precursor							87.0	94.0	92.0					10																	55582862		2203	4298	6501	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582862T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4624A>G	10.37:g.55582862T>C	ENSP00000322604:p.Ile1542Val	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1539V|PCDH15_uc010qhw.1_Missense_Mutation_p.I1502V|PCDH15_uc010qhx.1_Missense_Mutation_p.I1473V|PCDH15_uc010qhy.1_Missense_Mutation_p.I1549V|PCDH15_uc010qhz.1_Missense_Mutation_p.I1544V|PCDH15_uc010qia.1_Missense_Mutation_p.I1522V|PCDH15_uc010qib.1_Missense_Mutation_p.I1519V	p.I1542V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5019	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1542			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4624A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	0.706	-0.789093	0.02884	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.55234	0.55;0.53;0.57;0.54;0.54;0.55	5.91	2.14	0.27477	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.15930	0.015;0.0;0.001;0.0;0.002;0.008;0.015;0.0	B;B;B;B;B;B;B;B	0.17433	0.011;0.003;0.003;0.003;0.003;0.011;0.018;0.003	T	0.19418	-1.0306	9	0.25106	T	0.35	.	3.8776	0.09064	0.5149:0.0:0.1521:0.3331	.	1519;1542;1544;1549;1473;1502;1539;1542	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1502;1544;1519;1542;1539;1549;1473	ENSP00000378820:I1502V;ENSP00000354950:I1544V;ENSP00000378821:I1519V;ENSP00000322604:I1542V;ENSP00000378818:I1539V;ENSP00000412628:I1473V	ENSP00000322604:I1542V	I	-	1	0	PCDH15	55252868	0.563000	0.26594	0.119000	0.21687	0.007000	0.05969	1.680000	0.37607	0.087000	0.17167	-0.347000	0.07816	ATT		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	134	0	0	0	0.00333	0	23	134				
PCDH15	65217	broad.mit.edu	37	10	55944970	55944970	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55944970G>A	ENST00000320301.6	-	12	1758	c.1364C>T	c.(1363-1365)aCa>aTa	p.T455I	PCDH15_ENST00000395430.1_Missense_Mutation_p.T455I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.T455I|PCDH15_ENST00000395433.1_Missense_Mutation_p.T433I|PCDH15_ENST00000395438.1_Missense_Mutation_p.T455I|PCDH15_ENST00000373965.2_Missense_Mutation_p.T462I|PCDH15_ENST00000395446.1_Missense_Mutation_p.T455I|PCDH15_ENST00000409834.1_Missense_Mutation_p.T66I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.T460I|PCDH15_ENST00000395445.1_Missense_Mutation_p.T462I|PCDH15_ENST00000361849.3_Missense_Mutation_p.T455I|PCDH15_ENST00000395432.2_Missense_Mutation_p.T418I|PCDH15_ENST00000373957.3_Missense_Mutation_p.T433I|PCDH15_ENST00000437009.1_Missense_Mutation_p.T455I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCAGTCTGTGTGACGGTGAA	0.388										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1363-1365)ACA>ATA		protocadherin 15 isoform CD1-4 precursor							172.0	151.0	158.0					10																	55944970		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944970G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1364C>T	10.37:g.55944970G>A	ENSP00000322604:p.Thr455Ile	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.T460I|PCDH15_uc010qhr.1_Missense_Mutation_p.T455I|PCDH15_uc010qhs.1_Missense_Mutation_p.T467I|PCDH15_uc010qht.1_Missense_Mutation_p.T462I|PCDH15_uc010qhu.1_Missense_Mutation_p.T455I|PCDH15_uc001jjv.1_Missense_Mutation_p.T433I|PCDH15_uc010qhv.1_Missense_Mutation_p.T455I|PCDH15_uc010qhw.1_Missense_Mutation_p.T418I|PCDH15_uc010qhx.1_Missense_Mutation_p.T455I|PCDH15_uc010qhy.1_Missense_Mutation_p.T460I|PCDH15_uc010qhz.1_Missense_Mutation_p.T455I|PCDH15_uc010qia.1_Missense_Mutation_p.T433I|PCDH15_uc010qib.1_Missense_Mutation_p.T433I|PCDH15_uc001jjw.2_Missense_Mutation_p.T455I	p.T455I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			12	1759	-		Melanoma(3;0.117)|Lung SC(717;0.238)	455			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1364C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356625	0.82243	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.34;0.63;0.63;0.36;0.31;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.29	5.29	0.74685	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73845	0.3639	L	0.59436	1.845	0.53005	D	0.999969	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.998;0.999;1.0;0.996;0.998;0.996;0.996;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.995;0.968;0.997;0.997;0.999;0.978;0.968;0.987;0.978;0.982;0.931;0.967;0.995	T	0.75614	-0.3257	9	0.72032	D	0.01	.	18.0547	0.89361	0.0:0.0:1.0:0.0	.	433;455;455;460;455;418;455;455;462;462;455;460;455;433;455	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	462;460;455;455;66;462;455;418;455;433;433;455;455;460;455;455	ENSP00000363076:T462I;ENSP00000410304:T460I;ENSP00000378826:T455I;ENSP00000386693:T66I;ENSP00000378832:T462I;ENSP00000378833:T455I;ENSP00000378820:T418I;ENSP00000354950:T455I;ENSP00000378821:T433I;ENSP00000363068:T433I;ENSP00000322604:T455I;ENSP00000378818:T455I;ENSP00000412628:T455I;ENSP00000363066:T455I	ENSP00000322604:T455I	T	-	2	0	PCDH15	55614976	1.000000	0.71417	0.322000	0.25334	0.835000	0.47333	9.155000	0.94700	2.638000	0.89438	0.591000	0.81541	ACA		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	72	0	0	0	0.00278	0	22	72				
ANK3	288	broad.mit.edu	37	10	61835419	61835419	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:61835419C>T	ENST00000280772.2	-	37	5411	c.5220G>A	c.(5218-5220)acG>acA	p.T1740T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1740	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCCTGTAACGTGGCAGTGG	0.433																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5218-5220)ACG>ACA		ankyrin 3 isoform 1							61.0	62.0	62.0					10																	61835419		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835419C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5220G>A	10.37:g.61835419C>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.T1740T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5412	-			1740			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5220G>A	CCDS7258.1																																																																																				0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	83	0	0	0	0.004482	0	9	83				
NRBF2	29982	broad.mit.edu	37	10	64913381	64913381	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:64913381C>T	ENST00000277746.6	+	4	448	c.267C>T	c.(265-267)aaC>aaT	p.N89N	NRBF2_ENST00000435510.2_Silent_p.N79N	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	89					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCCAGCAGAACACAGACAAGG	0.512																																							uc001jmj.3		NA																	0					0						c.(265-267)AAC>AAT		nuclear receptor binding factor 2							44.0	47.0	46.0					10																	64913381		2203	4300	6503	SO:0001819	synonymous_variant	29982				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding	g.chr10:64913381C>T	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.267C>T	10.37:g.64913381C>T						NRBF2_uc010qip.1_Silent_p.N79N	p.N89N	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN			4	491	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		89					A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Silent	SNP	ENST00000277746.6	37	c.267C>T	CCDS7268.1																																																																																				0.512	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		9	56	0	0	0	0.006214	0	9	56				
HERC4	26091	broad.mit.edu	37	10	69751983	69751983	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:69751983G>A	ENST00000395198.3	-	11	1491	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	HERC4_ENST00000412272.2_Missense_Mutation_p.S415F|HERC4_ENST00000373700.4_Missense_Mutation_p.S415F|HERC4_ENST00000277817.6_Missense_Mutation_p.S305F|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	415					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAACCTTCCAGAAGGATAGCT	0.498																																							uc001jng.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1243-1245)TCT>TTT		hect domain and RLD 4 isoform a							107.0	93.0	98.0					10																	69751983		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69751983G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1244C>T	10.37:g.69751983G>A	ENSP00000378624:p.Ser415Phe					HERC4_uc009xpq.2_5'UTR|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.S415F|HERC4_uc009xpr.2_Missense_Mutation_p.S415F|HERC4_uc001jni.3_Missense_Mutation_p.S159F|HERC4_uc001jnj.2_Missense_Mutation_p.S415F	p.S415F	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			11	1555	-			415					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.1244C>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043434	0.55003	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.50277	1.04;0.75;0.79;0.79	5.25	5.25	0.73442	.	0.507240	0.23797	N	0.044463	T	0.44265	0.1285	L	0.42245	1.32	0.80722	D	1	P;B;B;P;B	0.37636	0.603;0.002;0.245;0.587;0.452	B;B;B;B;B	0.36845	0.234;0.007;0.057;0.188;0.092	T	0.49082	-0.8976	10	0.66056	D	0.02	.	17.0279	0.86453	0.0:0.0:1.0:0.0	.	415;415;265;415;415	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	F	305;415;415;415	ENSP00000277817:S305F;ENSP00000416504:S415F;ENSP00000378624:S415F;ENSP00000362804:S415F	ENSP00000277817:S305F	S	-	2	0	HERC4	69421989	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.027000	0.57239	2.437000	0.82529	0.650000	0.86243	TCT		0.498	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		16	72	0	0	0	0.004007	0	16	72				
MYPN	84665	broad.mit.edu	37	10	69934191	69934191	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:69934191A>G	ENST00000358913.5	+	11	2830	c.2342A>G	c.(2341-2343)cAa>cGa	p.Q781R	MYPN_ENST00000354393.2_Missense_Mutation_p.Q506R|MYPN_ENST00000540630.1_Missense_Mutation_p.Q781R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	781					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTTCCATCCAAAATGAGCCA	0.527																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2341-2343)CAA>CGA		myopalladin							101.0	87.0	92.0					10																	69934191		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934191A>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2342A>G	10.37:g.69934191A>G	ENSP00000351790:p.Gln781Arg					MYPN_uc001jnn.3_Missense_Mutation_p.Q506R|MYPN_uc001jno.3_Missense_Mutation_p.Q781R|MYPN_uc009xpt.2_Missense_Mutation_p.Q781R|MYPN_uc010qit.1_Missense_Mutation_p.Q487R|MYPN_uc010qiu.1_RNA	p.Q781R	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2527	+			781					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2342A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	0.795	-0.757509	0.03019	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57595	0.39;0.44;0.42	5.8	3.31	0.37934	.	0.450054	0.24571	N	0.037396	T	0.39655	0.1086	L	0.40543	1.245	0.09310	N	1	B;B;B	0.23249	0.023;0.082;0.049	B;B;B	0.21708	0.022;0.036;0.024	T	0.20240	-1.0281	9	.	.	.	.	8.5822	0.33634	0.7363:0.1349:0.0:0.1288	.	781;506;781	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	R	506;506;781;781	ENSP00000346369:Q506R;ENSP00000351790:Q781R;ENSP00000441668:Q781R	.	Q	+	2	0	MYPN	69604197	0.123000	0.22298	0.356000	0.25785	0.292000	0.27327	0.831000	0.27476	0.999000	0.39023	0.533000	0.62120	CAA		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		23	66	0	0	0	0.002299	0	23	66				
DDX50	79009	broad.mit.edu	37	10	70672916	70672916	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:70672916A>G	ENST00000373585.3	+	5	746		c.e5-1		RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CCTCTTGCTCAGGTACTTGTT	0.358																																							uc001jou.2		NA																	0				ovary(1)	1						c.e5-2		nucleolar protein GU2							52.0	52.0	52.0					10																	70672916		2203	4300	6503	SO:0001630	splice_region_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70672916A>G	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.640-1A>G	10.37:g.70672916A>G						DDX50_uc001jot.2_Splice_Site_p.V214_splice|DDX50_uc010qjc.1_Splice_Site_p.V214_splice	p.V214_splice	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			5	747	+								Q5VX37|Q8WV76|Q9BWI8	Splice_Site	SNP	ENST00000373585.3	37	c.640_splice	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	a	16.16	3.045435	0.55110	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0866	0.72158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX50	70342922	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.962000	0.93254	2.038000	0.60285	0.379000	0.24179	.		0.358	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	Intron	7	34	0	0	0	0.00308	0	7	34				
CDH23	64072	broad.mit.edu	37	10	73544143	73544143	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:73544143C>A	ENST00000224721.6	+	41	5488	c.5483C>A	c.(5482-5484)gCc>gAc	p.A1828D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1823	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCATCTGTGCCCGTGACCGG	0.632																																							uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(5467-5469)GCC>GAC		cadherin-like 23 isoform 1 precursor							59.0	65.0	63.0					10																	73544143		1973	4137	6110	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544143C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5483C>A	10.37:g.73544143C>A	ENSP00000224721:p.Ala1828Asp						p.A1823D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			40	5845	+			1823			Cadherin 17.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5468C>A		.	.	.	.	.	.	.	.	.	.	c	24.7	4.556920	0.86231	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.44	4.52	0.55395	Cadherin (4);Cadherin-like (1);	0.063669	0.64402	N	0.000007	D	0.88108	0.6348	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91378	0.5125	9	0.87932	D	0	.	12.3183	0.54971	0.1336:0.7377:0.1286:0.0	.	1823	Q9H251	CAD23_HUMAN	D	1828;1823;1826	.	ENSP00000224721:A1828D	A	+	2	0	CDH23	73214149	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.943000	0.70211	1.255000	0.44051	0.450000	0.29827	GCC		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		16	63	1	0	2.23348e-06	0.004007	2.47634e-06	16	63				
CAMK2G	818	broad.mit.edu	37	10	75607836	75607836	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:75607836G>T	ENST00000351293.3	-	9	663	c.606C>A	c.(604-606)gtC>gtA	p.V202V	CAMK2G_ENST00000372765.1_Silent_p.V202V|CAMK2G_ENST00000394762.2_Silent_p.V202V|CAMK2G_ENST00000322680.3_Silent_p.V202V|CAMK2G_ENST00000305762.7_Silent_p.V202V|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000423381.1_Silent_p.V202V|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322635.3_Silent_p.V202V	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	TATACAGGATGACCCCTACGA	0.532																																							uc001jvv.1		NA																	0				lung(1)|stomach(1)	2						c.(580-582)GTC>GTA		calcium/calmodulin-dependent protein kinase II							118.0	116.0	117.0					10																	75607836		2203	4300	6503	SO:0001819	synonymous_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75607836G>T	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.606C>A	10.37:g.75607836G>T						CAMK2G_uc001jvm.1_Silent_p.V202V|CAMK2G_uc001jvo.1_Silent_p.V202V|CAMK2G_uc001jvq.1_Silent_p.V202V|CAMK2G_uc001jvr.1_Silent_p.V202V|CAMK2G_uc001jvp.1_Silent_p.V202V|CAMK2G_uc001jvs.1_Silent_p.V202V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.V180V|CAMK2G_uc010qkv.1_Intron	p.V194V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			9	706	-	Prostate(51;0.0112)		202			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	c.582C>A	CCDS7336.1																																																																																				0.532	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		25	111	1	0	1.17739e-12	0.005443	1.44303e-12	25	111				
LDB3	11155	broad.mit.edu	37	10	88439263	88439263	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:88439263T>A	ENST00000361373.4	+	2	254	c.233T>A	c.(232-234)cTc>cAc	p.L78H	LDB3_ENST00000542786.1_Missense_Mutation_p.L78H|LDB3_ENST00000372066.3_Missense_Mutation_p.L78H|LDB3_ENST00000310944.6_Missense_Mutation_p.L78H|LDB3_ENST00000372056.4_Missense_Mutation_p.L78H|LDB3_ENST00000429277.2_Missense_Mutation_p.L78H|LDB3_ENST00000352360.5_Missense_Mutation_p.L78H|LDB3_ENST00000458213.2_Missense_Mutation_p.L78H|LDB3_ENST00000263066.6_Missense_Mutation_p.L78H	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AACTTGAGCCTCACCCTGCAG	0.587																																							uc001kdv.2		NA																	0				ovary(1)	1						c.(232-234)CTC>CAC		LIM domain binding 3 isoform 1							90.0	76.0	81.0					10																	88439263		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88439263T>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.233T>A	10.37:g.88439263T>A	ENSP00000355296:p.Leu78His					LDB3_uc010qml.1_Missense_Mutation_p.L78H|LDB3_uc010qmm.1_Missense_Mutation_p.L78H|LDB3_uc001kdu.2_Missense_Mutation_p.L78H|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.L78H|LDB3_uc009xsy.2_Missense_Mutation_p.L78H|LDB3_uc001kds.2_Missense_Mutation_p.L78H|LDB3_uc001kdt.2_RNA	p.L78H	NM_007078	NP_009009	O75112	LDB3_HUMAN			2	256	+			78			PDZ.			Missense_Mutation	SNP	ENST00000361373.4	37	c.233T>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776475	0.90195	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.29602	N	0.011685	D	0.87289	0.6140	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0;1.0	D	0.93014	0.6434	10	0.87932	D	0	.	15.8765	0.79166	0.0:0.0:0.0:1.0	.	78;78;78;78;78;78;78	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	H	78	ENSP00000401437:L78H;ENSP00000409148:L78H;ENSP00000263067:L78H;ENSP00000361136:L78H;ENSP00000263066:L78H;ENSP00000361126:L78H;ENSP00000311913:L78H;ENSP00000355296:L78H;ENSP00000438866:L78H	ENSP00000263066:L78H	L	+	2	0	LDB3	88429243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.154000	0.67381	0.459000	0.35465	CTC		0.587	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			36	45	0	0	0	0.006999	0	36	45				
IFIT2	3433	broad.mit.edu	37	10	91066380	91066380	+	Missense_Mutation	SNP	C	C	T	rs370009481		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:91066380C>T	ENST00000371826.3	+	2	836	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	223					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TCATAAGATGCGTGAAGAAGG	0.493																																							uc009xts.2		NA																	0				ovary(1)|skin(1)	2						c.(667-669)CGT>TGT		interferon-induced protein with		C	CYS/ARG	2,3958		0,2,1978	67.0	67.0	67.0		667	-1.9	0.0	10		67	0,8348		0,0,4174	no	missense	IFIT2	NM_001547.4	180	0,2,6152	TT,TC,CC		0.0,0.0505,0.0162	benign	223/473	91066380	2,12306	1980	4174	6154	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066380C>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.667C>T	10.37:g.91066380C>T	ENSP00000360891:p.Arg223Cys					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.R223C	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	842	+		Colorectal(252;0.0161)	223					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.667C>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711546	0.30322	5.05E-4	0.0	ENSG00000119922	ENST00000371826	T	0.38401	1.14	4.45	-1.9	0.07665	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.27796	0.083	T	0.12604	-1.0541	9	0.66056	D	0.02	-0.26	7.7783	0.29049	0.2071:0.4125:0.3804:0.0	.	223	P09913	IFIT2_HUMAN	C	223	ENSP00000360891:R223C	ENSP00000360891:R223C	R	+	1	0	IFIT2	91056360	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-1.215000	0.02985	-0.332000	0.08489	-1.098000	0.02139	CGT		0.493	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		17	59	0	0	0	0.006122	0	17	59				
PDE6C	5146	broad.mit.edu	37	10	95385369	95385369	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:95385369T>C	ENST00000371447.3	+	5	1040	c.902T>C	c.(901-903)gTa>gCa	p.V301A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	301	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTTGGAGAAGTAGAGCCTTAT	0.423																																							uc001kiu.3		NA																	1	Deletion - In frame(1)	p.V301_E302del(1)	ovary(1)	ovary(2)|kidney(1)|skin(1)	4						c.(901-903)GTA>GCA		phosphodiesterase 6C							110.0	97.0	101.0					10																	95385369		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95385369T>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.902T>C	10.37:g.95385369T>C	ENSP00000360502:p.Val301Ala						p.V301A	NM_006204	NP_006195	P51160	PDE6C_HUMAN			5	1040	+		Colorectal(252;0.123)	301			GAF 2.		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.902T>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	T	1.236	-0.622625	0.03636	.	.	ENSG00000095464	ENST00000371447	T	0.63580	-0.05	4.95	2.61	0.31194	GAF (2);	0.324291	0.31221	N	0.008024	T	0.43765	0.1262	L	0.34521	1.04	0.29275	N	0.870439	B	0.16396	0.017	B	0.20955	0.032	T	0.29549	-1.0008	10	0.10377	T	0.69	.	7.4734	0.27361	0.0:0.3089:0.0:0.691	.	301	P51160	PDE6C_HUMAN	A	301	ENSP00000360502:V301A	ENSP00000360502:V301A	V	+	2	0	PDE6C	95375359	0.121000	0.22262	0.546000	0.28166	0.951000	0.60555	0.435000	0.21510	0.455000	0.26910	-0.290000	0.09829	GTA		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		13	29	0	0	0	0.003163	0	13	29				
PI4K2A	55361	broad.mit.edu	37	10	99426256	99426256	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:99426256T>A	ENST00000370631.3	+	7	1203	c.1146T>A	c.(1144-1146)gaT>gaA	p.D382E	PI4K2A_ENST00000370649.3_Missense_Mutation_p.D352E|PI4K2A_ENST00000555577.1_Missense_Mutation_p.D352E	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	382	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGATCAAAGATCTGATCCTTC	0.468																																							uc001kog.1		NA																	0				lung(1)|skin(1)	2						c.(1144-1146)GAT>GAA		phosphatidylinositol 4-kinase type 2 alpha							79.0	76.0	77.0					10																	99426256		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426256T>A	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1146T>A	10.37:g.99426256T>A	ENSP00000359665:p.Asp382Glu					PI4K2A_uc010qoy.1_Missense_Mutation_p.D352E|PI4K2A_uc009xvw.1_Intron	p.D382E	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	7	1203	+		Colorectal(252;0.162)	382			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1146T>A	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818470	0.32145	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.74421	-0.84;-0.84;-0.84	5.28	-1.71	0.08133	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.154565	0.56097	D	0.000027	T	0.44286	0.1286	N	0.11892	0.195	0.45747	D	0.99864	B;B	0.12013	0.005;0.004	B;B	0.23150	0.044;0.02	T	0.04635	-1.0937	10	0.15952	T	0.53	-8.7751	0.7865	0.01049	0.2454:0.1904:0.1252:0.4389	.	352;382	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	E	352;382;352	ENSP00000452243:D352E;ENSP00000359665:D382E;ENSP00000359683:D352E	ENSP00000359665:D382E	D	+	3	2	PI4K2A;RP11-548K23.11	99416246	0.611000	0.26992	0.998000	0.56505	0.950000	0.60333	-0.167000	0.09940	0.018000	0.15052	-0.313000	0.08912	GAT		0.468	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		11	51	0	0	0	0.001368	0	11	51				
SFXN3	81855	broad.mit.edu	37	10	102796833	102796833	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:102796833A>G	ENST00000224807.5	+	8	1062	c.606A>G	c.(604-606)agA>agG	p.R202R	SFXN3_ENST00000393459.1_Splice_Site_p.R198R	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	202					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCCCTTGCAGAGAGCTGCAGG	0.627																																							uc001ksp.2		NA																	0				ovary(1)	1						c.(604-606)AGA>AGG		sideroflexin 3							32.0	35.0	34.0					10																	102796833		2203	4300	6503	SO:0001630	splice_region_variant	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102796833A>G	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.606-1A>G	10.37:g.102796833A>G						SFXN3_uc001ksq.2_Silent_p.R202R|SFXN3_uc010qpx.1_Silent_p.R206R	p.R202R	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	8	1062	+		Colorectal(252;0.234)	202					Q8NCJ0|Q9NTP4	Silent	SNP	ENST00000224807.5	37	c.606A>G	CCDS7508.2																																																																																				0.627	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971	Silent	13	27	0	0	0	0.00245	0	13	27				
CNNM2	54805	broad.mit.edu	37	10	104678357	104678357	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:104678357C>T	ENST00000369878.4	+	1	308	c.120C>T	c.(118-120)atC>atT	p.I40I	CNNM2_ENST00000433628.2_Silent_p.I40I|CNNM2_ENST00000369875.3_Silent_p.I40I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	40					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCGGGGGATCCTGCAGGCGG	0.726																																							uc001kwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)ATC>ATT		cyclin M2 isoform 1							3.0	4.0	4.0					10																	104678357		1897	3667	5564	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678357C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.120C>T	10.37:g.104678357C>T						CNNM2_uc001kwn.2_Silent_p.I40I|CNNM2_uc001kwl.2_Silent_p.I40I	p.I40I	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	244	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	40					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.120C>T	CCDS44474.1																																																																																				0.726	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		3	6	0	0	0	0.009096	0	3	6				
ITPRIP	85450	broad.mit.edu	37	10	106075426	106075426	+	Silent	SNP	G	G	A	rs372390974		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:106075426G>A	ENST00000337478.1	-	2	555	c.384C>T	c.(382-384)ggC>ggT	p.G128G	ITPRIP_ENST00000278071.2_Silent_p.G128G|ITPRIP_ENST00000358187.2_Silent_p.G128G|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	128						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAAGGGGGCGCCCCCCAGCC	0.692																																							uc001kye.2		NA																	0					0						c.(382-384)GGC>GGT		inositol 1,4,5-triphosphate receptor interacting							35.0	41.0	39.0					10																	106075426		2203	4298	6501	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075426G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.384C>T	10.37:g.106075426G>A						ITPRIP_uc001kyf.2_Silent_p.G128G|ITPRIP_uc001kyg.2_Silent_p.G128G	p.G128G	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	457	-			128					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.384C>T	CCDS7557.1																																																																																				0.692	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		11	88	0	0	0	0.001368	0	11	88				
CCDC172	374355	broad.mit.edu	37	10	118084561	118084561	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:118084561C>A	ENST00000333254.3	+	2	289	c.38C>A	c.(37-39)aCc>aAc	p.T13N	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	13																	ATCATCTTCACCGAGCATCAG	0.517																																							uc001lck.2		NA																	0				ovary(2)	2						c.(37-39)ACC>AAC		hypothetical protein LOC374355							102.0	108.0	106.0					10																	118084561		2203	4300	6503	SO:0001583	missense	374355							g.chr10:118084561C>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.38C>A	10.37:g.118084561C>A	ENSP00000329860:p.Thr13Asn						p.T13N	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	2	289	+		Lung NSC(174;0.204)|all_lung(145;0.248)	13			Potential.			Missense_Mutation	SNP	ENST00000333254.3	37	c.38C>A	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001358	0.35320	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	1.23	0.21249	.	0.561704	0.16505	N	0.211496	T	0.45836	0.1362	L	0.46157	1.445	0.09310	N	0.999999	B	0.30634	0.288	B	0.36244	0.22	T	0.46735	-0.9170	9	0.72032	D	0.01	-6.1839	15.1271	0.72493	0.0:0.4346:0.5654:0.0	.	13	P0C7W6	CJ096_HUMAN	N	13	.	ENSP00000329860:T13N	T	+	2	0	C10orf96	118074551	0.633000	0.27181	0.028000	0.17463	0.704000	0.40688	1.198000	0.32223	-0.034000	0.13713	0.655000	0.94253	ACC		0.517	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		14	48	1	0	1.05317e-09	0.00245	1.25014e-09	14	48				
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:121337189T>C	ENST00000436547.2	-	8	660	c.616A>G	c.(616-618)Act>Gct	p.T206A	TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369092.4_Missense_Mutation_p.T83A|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368																																							uc001lei.1		NA																	0				ovary(1)	1						c.(616-618)ACT>GCT		TIA-1 related protein isoform 1							143.0	130.0	135.0					10																	121337189		2203	4300	6503	SO:0001583	missense	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121337189T>C	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.616A>G	10.37:g.121337189T>C	ENSP00000394902:p.Thr206Ala					TIAL1_uc001leh.1_Missense_Mutation_p.T184A|TIAL1_uc001lej.1_Missense_Mutation_p.T223A|TIAL1_uc001lek.1_Missense_Mutation_p.T83A|TIAL1_uc009xzi.1_Missense_Mutation_p.T75A|TIAL1_uc010qtb.1_Missense_Mutation_p.T83A	p.T206A	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	8	1180	-		Lung NSC(174;0.094)|all_lung(145;0.123)	206			RRM 3.		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	c.616A>G	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586296	0.66105	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.35421	2.34;1.31;2.57	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.043323	0.85682	N	0.000000	T	0.71099	0.3300	H	0.95114	3.625	0.80722	D	1	P;D;P;P	0.69078	0.635;0.997;0.876;0.948	P;D;P;P	0.81914	0.869;0.995;0.551;0.837	T	0.81226	-0.1029	10	0.87932	D	0	-9.4097	15.4548	0.75305	0.0:0.0:0.0:1.0	.	83;83;223;206	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	A	223;83;206	ENSP00000358089:T223A;ENSP00000358088:T83A;ENSP00000394902:T206A	ENSP00000358088:T83A	T	-	1	0	TIAL1	121327179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.914000	0.87478	2.113000	0.64589	0.482000	0.46254	ACT		0.368	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		39	136	0	0	0	0.003214	0	39	136				
GPR26	2849	broad.mit.edu	37	10	125426343	125426343	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:125426343C>A	ENST00000284674.1	+	1	473	c.420C>A	c.(418-420)gcC>gcA	p.A140A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	140					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCCCAGCCGCCGCGCTCGCCC	0.711																																							uc001lhh.2		NA																	0				skin(1)	1						c.(418-420)GCC>GCA		G protein-coupled receptor 26							10.0	11.0	11.0					10																	125426343		2185	4257	6442	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426343C>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.420C>A	10.37:g.125426343C>A							p.A140A	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	473	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	140			Helical; Name=4; (Potential).		Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.420C>A	CCDS7636.1																																																																																				0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			4	11	1	0	0.00909568	0.009096	0.00938228	4	11				
CPXM2	119587	broad.mit.edu	37	10	125521574	125521574	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:125521574G>T	ENST00000241305.3	-	11	1745	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	531					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R531W(1)		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)		CAGGGGGACCGCACCAGGTCG	0.632																																							uc001lhk.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(1591-1593)CGG>AGG		carboxypeptidase X (M14 family), member 2							75.0	76.0	76.0					10																	125521574		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125521574G>T	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.1591C>A	10.37:g.125521574G>T						CPXM2_uc001lhj.2_RNA	p.R531R	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	11	1916	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	531					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1591C>A	CCDS7637.1																																																																																				0.632	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		17	104	1	0	1.33834e-09	0.007413	1.5826e-09	17	104				
EDRF1	26098	broad.mit.edu	37	10	127436206	127436206	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:127436206T>C	ENST00000356792.4	+	20	3148	c.2916T>C	c.(2914-2916)ttT>ttC	p.F972F	RP11-383C5.7_ENST00000601363.1_RNA|C10orf137_ENST00000337623.3_Silent_p.F938F|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		972					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTACTTACTTTACTATGGCAA	0.388																																							uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(2914-2916)TTT>TTC		erythroid differentiation-related factor 1							124.0	120.0	122.0					10																	127436206		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127436206T>C																												ENST00000356792.4:c.2916T>C	10.37:g.127436206T>C						C10orf137_uc001lin.2_Silent_p.F938F|C10orf137_uc001lio.1_Silent_p.F938F|C10orf137_uc001lip.1_Silent_p.F676F|C10orf137_uc001lis.1_Silent_p.F298F|C10orf137_uc001lit.1_5'Flank	p.F972F	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			20	3209	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	972					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.2916T>C	CCDS55733.1																																																																																				0.388	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			14	70	0	0	0	0.00245	0	14	70				
DPYSL4	10570	broad.mit.edu	37	10	134016185	134016185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:134016185C>A	ENST00000338492.4	+	12	1481	c.1317C>A	c.(1315-1317)tgC>tgA	p.C439*	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	439					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GAGTGGAGTGCCGGGGAGCGC	0.657																																							uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(1315-1317)TGC>TGA		dihydropyrimidinase-like 4							68.0	66.0	67.0					10																	134016185		2202	4300	6502	SO:0001587	stop_gained	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016185C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1317C>A	10.37:g.134016185C>A	ENSP00000339850:p.Cys439*						p.C439*	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1471	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	439					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Nonsense_Mutation	SNP	ENST00000338492.4	37	c.1317C>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	38	6.848504	0.97885	.	.	ENSG00000151640	ENST00000338492	.	.	.	4.26	4.26	0.50523	.	0.180352	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.0084	7.5536	0.27812	0.0:0.7622:0.0:0.2378	.	.	.	.	X	439	.	ENSP00000339850:C439X	C	+	3	2	DPYSL4	133866175	0.926000	0.31397	0.999000	0.59377	0.761000	0.43186	-0.020000	0.12525	2.201000	0.70794	0.555000	0.69702	TGC		0.657	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			11	51	1	0	3.07112e-06	0.000978	3.39597e-06	11	51				
B4GALNT4	338707	broad.mit.edu	37	11	379674	379674	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:379674G>A	ENST00000329962.6	+	15	2461	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	821					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGCGCCAGGACGTGATGGT	0.682																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(2461-2463)GAC>AAC		beta							7.0	8.0	8.0					11																	379674		2097	4172	6269	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379674G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2461G>A	11.37:g.379674G>A	ENSP00000328277:p.Asp821Asn						p.D821N	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	2470	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	821			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2461G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	14.63	2.591370	0.46214	.	.	ENSG00000182272	ENST00000329962	T	0.15256	2.44	3.61	3.61	0.41365	.	0.238352	0.40818	N	0.001016	T	0.13030	0.0316	L	0.41824	1.3	0.31457	N	0.670043	B	0.27594	0.182	B	0.25759	0.063	T	0.08351	-1.0726	10	0.16896	T	0.51	-12.6893	11.5485	0.50706	0.0:0.1816:0.8184:0.0	.	821	Q76KP1	B4GN4_HUMAN	N	821	ENSP00000328277:D821N	ENSP00000328277:D821N	D	+	1	0	B4GALNT4	369674	0.041000	0.20044	1.000000	0.80357	0.997000	0.91878	1.079000	0.30766	2.022000	0.59522	0.555000	0.69702	GAC		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	15	0	0	0	0.00308	0	6	15				
MUC5B	727897	broad.mit.edu	37	11	1269131	1269131	+	Missense_Mutation	SNP	C	C	A	rs570186533		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:1269131C>A	ENST00000529681.1	+	31	11079	c.11021C>A	c.(11020-11022)aCc>aAc	p.T3674N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3677N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3674	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		TGCCCCAGCACCCCGGCCACC	0.597																																							uc009ycr.1		NA																	0					0						c.(12604-12606)ACC>AAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							72.0	92.0	86.0					11																	1269131		2005	4134	6139	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269131C>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.11021C>A	11.37:g.1269131C>A	ENSP00000436812:p.Thr3674Asn					MUC5B_uc001ltb.2_Missense_Mutation_p.T3677N	p.T4202N	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12731	+		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)	3674	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12605C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711743	0.30322	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21031	2.03;2.25	3.02	3.02	0.34903	.	.	.	.	.	T	0.34600	0.0903	L	0.47716	1.5	0.09310	N	1	P;D	0.64830	0.826;0.994	P;P	0.62885	0.693;0.908	T	0.05500	-1.0881	9	0.87932	D	0	.	10.3243	0.43783	0.0:1.0:0.0:0.0	.	4202;3677	A7Y9J9;E9PBJ0	.;.	N	3674;3677;3646;3579	ENSP00000436812:T3674N;ENSP00000415793:T3677N	ENSP00000343037:T3646N	T	+	2	0	MUC5B	1225707	0.000000	0.05858	0.045000	0.18777	0.022000	0.10575	-0.097000	0.11042	1.686000	0.51046	0.478000	0.44815	ACC		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		28	131	1	0	2.59497e-14	0.007835	3.23137e-14	28	131				
MRPL23	6150	broad.mit.edu	37	11	1974042	1974042	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:1974042T>C	ENST00000397298.3	+	4	339	c.254T>C	c.(253-255)gTg>gCg	p.V85A	MRPL23_ENST00000381514.3_Missense_Mutation_p.V85A|MRPL23_ENST00000397294.3_Missense_Mutation_p.V85A|MRPL23_ENST00000381519.1_Missense_Mutation_p.V85A|MRPL23_ENST00000397297.3_Missense_Mutation_p.V85A	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	85					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CACAGAAACGTGAGGATCAAG	0.502											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001lux.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(253-255)GTG>GCG		mitochondrial ribosomal protein L23							30.0	28.0	28.0					11																	1974042		2202	4299	6501	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1974042T>C	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.254T>C	11.37:g.1974042T>C	ENSP00000380466:p.Val85Ala		OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	600		p.V85A	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	4	345	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	85					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.254T>C	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	T	5.597	0.294834	0.10622	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	3.35	3.35	0.38373	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.152927	0.43416	U	0.000566	T	0.26412	0.0645	L	0.41573	1.285	0.09310	N	1	P	0.39424	0.673	B	0.37550	0.253	T	0.06445	-1.0826	10	0.16896	T	0.51	.	4.0817	0.09929	0.3306:0.0:0.1645:0.5049	.	85	Q16540	RM23_HUMAN	A	85	ENSP00000380466:V85A;ENSP00000370930:V85A;ENSP00000380465:V85A;ENSP00000370925:V85A;ENSP00000380462:V85A	ENSP00000370925:V85A	V	+	2	0	MRPL23	1930618	0.191000	0.23288	0.004000	0.12327	0.025000	0.11179	2.644000	0.46613	1.541000	0.49316	0.402000	0.26972	GTG		0.502	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		3	18	0	0	0	0.004672	0	3	18				
OR51E1	143503	broad.mit.edu	37	11	4673831	4673831	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4673831G>T	ENST00000530215.1	+	1	116	c.75G>T	c.(73-75)gaG>gaT	p.E25D	OR51E1_ENST00000396952.5_Missense_Mutation_p.E25D			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTAGAAGAGGCTCAGTTCT	0.493																																							uc001lzi.3		NA																	0				large_intestine(3)|pancreas(1)	4						c.(73-75)GAG>GAT		olfactory receptor, family 51, subfamily E,							290.0	212.0	238.0					11																	4673831		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4673831G>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.75G>T	11.37:g.4673831G>T	ENSP00000431593:p.Glu25Asp						p.E25D	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	219	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	24			Extracellular (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000530215.1	37	c.75G>T		.	.	.	.	.	.	.	.	.	.	G	9.111	1.006525	0.19199	.	.	ENSG00000180785	ENST00000396952;ENST00000530215	T;T	0.00453	7.33;7.33	4.87	-1.44	0.08856	.	0.358124	0.23666	N	0.045774	T	0.00178	0.0005	N	0.10972	0.075	0.23056	N	0.998361	B	0.02656	0.0	B	0.04013	0.001	T	0.31833	-0.9929	10	0.11485	T	0.65	.	9.625	0.39746	0.6643:0.0:0.3357:0.0	.	24	Q8TCB6	O51E1_HUMAN	D	25	ENSP00000380155:E25D;ENSP00000431593:E25D	ENSP00000380155:E25D	E	+	3	2	OR51E1	4630407	0.000000	0.05858	0.987000	0.45799	0.940000	0.58332	-1.301000	0.02749	-0.114000	0.11936	-0.982000	0.02568	GAG		0.493	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000385957.1	NM_152430		43	111	1	0	2.40228e-13	0.003214	2.97653e-13	43	111				
OR51F1	256892	broad.mit.edu	37	11	4790450	4790450	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4790450G>A	ENST00000380383.1	-	1	718	c.719C>T	c.(718-720)cCt>cTt	p.P240L	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.P233L|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTCTTCAGGGGAGGCAAT	0.453																																							uc010qyl.1		NA																	0				ovary(1)|skin(1)	2						c.(697-699)CCT>CTT		olfactory receptor, family 51, subfamily F,							115.0	108.0	110.0					11																	4790450		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790450G>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.719C>T	11.37:g.4790450G>A	ENSP00000369744:p.Pro240Leu						p.P233L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	698	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	233						Missense_Mutation	SNP	ENST00000380383.1	37	c.698C>T		.	.	.	.	.	.	.	.	.	.	G	7.824	0.718317	0.15372	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00039	8.85;8.85	5.24	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.231521	0.30850	N	0.008752	T	0.00241	0.0007	M	0.77820	2.39	0.09310	N	1	B	0.27351	0.176	B	0.35413	0.202	T	0.11690	-1.0577	10	0.30078	T	0.28	.	9.2149	0.37342	0.0:0.142:0.5646:0.2934	.	240	A6NGY5	O51F1_HUMAN	L	233;240	ENSP00000345163:P233L;ENSP00000369744:P240L	ENSP00000345163:P233L	P	-	2	0	OR51F1	4747026	0.000000	0.05858	0.047000	0.18901	0.485000	0.33311	0.061000	0.14366	0.751000	0.32900	0.655000	0.94253	CCT		0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		36	80	0	0	0	0.005524	0	36	80				
OR52R1	119695	broad.mit.edu	37	11	4825052	4825052	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4825052C>A	ENST00000356069.2	-	1	558	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	OR52R1_ENST00000380382.1_Missense_Mutation_p.V266L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTTCAGCACAGCCATGTGC	0.522																																							uc010qym.1		NA																	0				skin(1)	1						c.(796-798)GTG>TTG		olfactory receptor, family 52, subfamily R,							170.0	129.0	143.0					11																	4825052		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825052C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.559G>T	11.37:g.4825052C>A	ENSP00000348368:p.Val187Leu						p.V266L	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	796	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	187			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.796G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709261	0.30322	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00099	8.73;8.73	5.46	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.150035	0.30285	N	0.009972	T	0.00144	0.0004	L	0.41632	1.29	0.32536	N	0.53433	B	0.19817	0.039	B	0.25140	0.058	T	0.01734	-1.1285	10	0.21540	T	0.41	.	10.5611	0.45146	0.2667:0.6046:0.1286:0.0	.	187	Q8NGF1	O52R1_HUMAN	L	187;266	ENSP00000348368:V187L;ENSP00000369742:V266L	ENSP00000348368:V187L	V	-	1	0	OR52R1	4781628	0.000000	0.05858	0.993000	0.49108	0.995000	0.86356	-0.520000	0.06252	0.838000	0.34948	0.650000	0.86243	GTG		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		43	67	1	0	1.41504e-22	0.002852	1.83365e-22	43	67				
OR52R1	119695	broad.mit.edu	37	11	4825054	4825054	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4825054G>C	ENST00000356069.2	-	1	556	c.557C>G	c.(556-558)gCt>gGt	p.A186G	OR52R1_ENST00000380382.1_Missense_Mutation_p.A265G|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCAGCACAGCCATGTGCTC	0.522																																							uc010qym.1		NA																	0				skin(1)	1						c.(793-795)GCT>GGT		olfactory receptor, family 52, subfamily R,							169.0	128.0	142.0					11																	4825054		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825054G>C	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.557C>G	11.37:g.4825054G>C	ENSP00000348368:p.Ala186Gly						p.A265G	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	794	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	186			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.794C>G	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317797	0.40996	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00115	8.71;8.71	5.46	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00241	0.0007	L	0.42632	1.34	0.32329	N	0.561388	D	0.65815	0.995	D	0.68483	0.958	T	0.59643	-0.7416	10	0.02654	T	1	.	11.5678	0.50815	0.0:0.1345:0.7259:0.1397	.	186	Q8NGF1	O52R1_HUMAN	G	186;265	ENSP00000348368:A186G;ENSP00000369742:A265G	ENSP00000348368:A186G	A	-	2	0	OR52R1	4781630	0.005000	0.15991	1.000000	0.80357	0.993000	0.82548	1.460000	0.35244	1.526000	0.49068	0.650000	0.86243	GCT		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		42	69	0	0	0	0.002852	0	42	69				
OR51B5	282763	broad.mit.edu	37	11	5364088	5364088	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:5364088C>T	ENST00000300773.2	-	1	721	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	223					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAGGACAGTCTTGAGT	0.448																																							uc001map.1		NA																	0				skin(1)	1						c.(667-669)GTC>ATC		olfactory receptor, family 51, subfamily B,							116.0	113.0	114.0					11																	5364088		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364088C>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.667G>A	11.37:g.5364088C>T	ENSP00000300773:p.Val223Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.V223I	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	667	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	223			Cytoplasmic (Potential).		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.667G>A	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402366	0.62288	.	.	ENSG00000242180	ENST00000300773	T	0.00224	8.51	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	N	0.002204	T	0.00328	0.0010	L	0.57536	1.79	0.09310	N	1	P	0.40250	0.709	P	0.51297	0.665	T	0.50127	-0.8864	10	0.62326	D	0.03	.	11.2825	0.49203	0.0:0.9121:0.0:0.0879	.	223	Q9H339	O51B5_HUMAN	I	223	ENSP00000300773:V223I	ENSP00000300773:V223I	V	-	1	0	OR51B5	5320664	0.935000	0.31712	0.893000	0.35052	0.821000	0.46438	1.952000	0.40343	2.570000	0.86706	0.650000	0.86243	GTC		0.448	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		7	111	0	0	0	0.001984	0	7	111				
OR56B1	387748	broad.mit.edu	37	11	5758380	5758380	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:5758380G>A	ENST00000317121.3	+	1	700	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGGTTCTGGCATGGCTTGG	0.453																																							uc001mbt.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(634-636)GCA>ACA		olfactory receptor, family 56, subfamily B,							83.0	75.0	78.0					11																	5758380		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758380G>A	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.634G>A	11.37:g.5758380G>A	ENSP00000322939:p.Ala212Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.A212T	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	634	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	212			Helical; Name=5; (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.634G>A	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208369	0.79240	.	.	ENSG00000181023	ENST00000317121	T	0.37752	1.18	5.89	5.89	0.94794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000469	T	0.60663	0.2286	M	0.74647	2.275	0.36272	D	0.855255	D	0.63046	0.992	D	0.65773	0.938	T	0.67067	-0.5764	10	0.56958	D	0.05	-7.1062	17.7467	0.88423	0.0:0.0:1.0:0.0	.	212	Q8NGI3	O56B1_HUMAN	T	212	ENSP00000322939:A212T	ENSP00000322939:A212T	A	+	1	0	OR56B1	5714956	0.002000	0.14202	1.000000	0.80357	0.900000	0.52787	0.848000	0.27710	2.792000	0.96026	0.643000	0.83706	GCA		0.453	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		9	52	0	0	0	0.008291	0	9	52				
OR56A1	120796	broad.mit.edu	37	11	6048892	6048892	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6048892G>T	ENST00000316650.5	-	1	79	c.43C>A	c.(43-45)Cca>Aca	p.P15T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGAGACTGGGACAGTGGAG	0.527																																							uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(43-45)CCA>ACA		olfactory receptor, family 56, subfamily A,							113.0	113.0	113.0					11																	6048892		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048892G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.43C>A	11.37:g.6048892G>T	ENSP00000321246:p.Pro15Thr						p.P15T	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	43	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	15			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.43C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	2.362	-0.346395	0.05208	.	.	ENSG00000180934	ENST00000316650	T	0.36157	1.27	4.14	0.833	0.18875	.	0.409391	0.17706	U	0.164765	T	0.10594	0.0259	N	0.00754	-1.215	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.32079	-0.9920	10	0.24483	T	0.36	.	8.4978	0.33138	0.0887:0.2887:0.6226:0.0	.	15	Q8NGH5	O56A1_HUMAN	T	15	ENSP00000321246:P15T	ENSP00000321246:P15T	P	-	1	0	OR56A1	6005468	.	.	0.000000	0.03702	0.008000	0.06430	.	.	0.462000	0.27095	0.563000	0.77884	CCA		0.527	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		9	82	1	0	3.09899e-07	0.004482	3.51746e-07	9	82				
OR56B4	196335	broad.mit.edu	37	11	6129945	6129945	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6129945C>A	ENST00000316529.3	+	1	1032	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCTTGGACTGGGTCAGGA	0.483																																							uc010qzx.1		NA																	0				central_nervous_system(1)	1						c.(937-939)CTG>ATG		olfactory receptor, family 56, subfamily B,							87.0	89.0	88.0					11																	6129945		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129945C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.937C>A	11.37:g.6129945C>A	ENSP00000321196:p.Leu313Met						p.L313M	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	937	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	313			Cytoplasmic (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.937C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471991	0.26423	.	.	ENSG00000180919	ENST00000316529	T	0.37915	1.17	2.88	-5.77	0.02369	.	0.297857	0.17749	N	0.163295	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B	0.26081	0.141	B	0.19391	0.025	T	0.07046	-1.0793	10	0.34782	T	0.22	.	4.0398	0.09746	0.2895:0.1612:0.0:0.5493	.	313	Q8NH76	O56B4_HUMAN	M	313	ENSP00000321196:L313M	ENSP00000321196:L313M	L	+	1	2	OR56B4	6086521	.	.	0.000000	0.03702	0.091000	0.18340	.	.	-1.517000	0.01780	-0.306000	0.09157	CTG		0.483	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		22	123	1	0	2.27731e-05	0.001882	2.47421e-05	22	123				
OR10A5	144124	broad.mit.edu	37	11	6867096	6867096	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6867096C>G	ENST00000299454.4	+	1	214	c.183C>G	c.(181-183)taC>taG	p.Y61*	OR10A5_ENST00000379831.2_Nonsense_Mutation_p.Y65*			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	61					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCCATGTACTTCTTCCTCA	0.473																																					Pancreas(44;21 1072 25662 28041 45559)	Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(181-183)TAC>TAG		olfactory receptor, family 10, subfamily A,							157.0	156.0	156.0					11																	6867096		2201	4293	6494	SO:0001587	stop_gained	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867096C>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.183C>G	11.37:g.6867096C>G	ENSP00000299454:p.Tyr61*						p.Y61*	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	183	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	61			Helical; Name=2; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Nonsense_Mutation	SNP	ENST00000299454.4	37	c.183C>G	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317426	0.60524	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	.	.	.	3.13	1.16	0.20824	.	0.000000	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.912	0.24340	0.0:0.7427:0.0:0.2573	.	.	.	.	X	61;65	.	ENSP00000299454:Y61X	Y	+	3	2	OR10A5	6823672	0.032000	0.19561	1.000000	0.80357	0.974000	0.67602	-0.707000	0.05041	0.310000	0.22990	0.591000	0.81541	TAC		0.473	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		44	165	0	0	0	0.00361	0	44	165				
OR10A5	144124	broad.mit.edu	37	11	6867123	6867123	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6867123G>T	ENST00000299454.4	+	1	241	c.210G>T	c.(208-210)ctG>ctT	p.L70L	OR10A5_ENST00000379831.2_Silent_p.L74L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	70					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTTTCCTGGAGATTGGCT	0.498																																					Pancreas(44;21 1072 25662 28041 45559)	Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(208-210)CTG>CTT		olfactory receptor, family 10, subfamily A,							121.0	121.0	121.0					11																	6867123		2200	4276	6476	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867123G>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.210G>T	11.37:g.6867123G>T							p.L70L	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	210	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	70			Helical; Name=2; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.210G>T	CCDS7773.1																																																																																				0.498	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		36	131	1	0	1.07637e-12	0.004878	1.32182e-12	36	131				
NLRP14	338323	broad.mit.edu	37	11	7081289	7081289	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:7081289A>T	ENST00000299481.4	+	9	3144	c.2798A>T	c.(2797-2799)gAc>gTc	p.D933V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	933					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTTCAGGACTTGGAGTAG	0.443																																							uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2797-2799)GAC>GTC		NLR family, pyrin domain containing 14							188.0	179.0	182.0					11																	7081289		2201	4295	6496	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081289A>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2798A>T	11.37:g.7081289A>T	ENSP00000299481:p.Asp933Val						p.D933V	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3121	+			933			LRR 8.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2798A>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574471	0.45902	.	.	ENSG00000158077	ENST00000299481	T	0.38722	1.12	4.5	4.5	0.54988	.	0.358439	0.20893	N	0.083782	T	0.30854	0.0778	N	0.17474	0.49	0.44117	D	0.996892	P	0.50156	0.932	P	0.47864	0.559	T	0.02339	-1.1174	10	0.19590	T	0.45	.	10.391	0.44168	1.0:0.0:0.0:0.0	.	933	Q86W24	NAL14_HUMAN	V	933	ENSP00000299481:D933V	ENSP00000299481:D933V	D	+	2	0	NLRP14	7037865	0.023000	0.18921	0.895000	0.35142	0.983000	0.72400	0.097000	0.15168	2.023000	0.59567	0.533000	0.62120	GAC		0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		40	161	0	0	0	0.002852	0	40	161				
RIC3	79608	broad.mit.edu	37	11	8148266	8148266	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:8148266T>G	ENST00000309737.6	-	5	609	c.610A>C	c.(610-612)Att>Ctt	p.I204L	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Missense_Mutation_p.I155L|RIC3_ENST00000396677.2_Missense_Mutation_p.I42L|RIC3_ENST00000343202.4_Missense_Mutation_p.I203L			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	204					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AATCTGTCAATGAATTTTCCT	0.448																																							uc001mgd.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(610-612)ATT>CTT		resistance to inhibitors of cholinesterase 3							136.0	124.0	128.0					11																	8148266		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8148266T>G		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.610A>C	11.37:g.8148266T>G	ENSP00000308820:p.Ile204Leu					RIC3_uc001mgb.2_Missense_Mutation_p.I42L|RIC3_uc001mgc.2_Missense_Mutation_p.I203L|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.I154L|RIC3_uc010rbm.1_Missense_Mutation_p.I232L|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Missense_Mutation_p.I7L	p.I204L	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	5	664	-			204			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.610A>C	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910932	0.17833	.	.	ENSG00000166405	ENST00000396677;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000531450	T;T;T;T	0.31769	1.55;1.55;1.57;1.48	5.66	1.86	0.25419	.	0.576153	0.17553	N	0.170105	T	0.15696	0.0378	N	0.21448	0.665	0.29585	N	0.848881	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.003;0.004;0.004;0.006	T	0.11743	-1.0575	10	0.31617	T	0.26	.	1.9666	0.03397	0.1284:0.1557:0.1329:0.5829	.	232;204;203;42	B7Z1U4;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;RIC3_HUMAN;.;.	L	42;203;204;232;155;232	ENSP00000344904:I203L;ENSP00000308820:I204L;ENSP00000443871:I155L;ENSP00000431658:I232L	ENSP00000308820:I204L	I	-	1	0	RIC3	8104842	1.000000	0.71417	0.864000	0.33941	0.978000	0.69477	1.176000	0.31957	0.512000	0.28257	0.533000	0.62120	ATT		0.448	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		17	62	0	0	0	0.004007	0	17	62				
STK33	65975	broad.mit.edu	37	11	8496256	8496256	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:8496256T>A	ENST00000447869.1	-	1	1115	c.197A>T	c.(196-198)aAc>aTc	p.N66I	STK33_ENST00000534493.1_Missense_Mutation_p.N25I|STK33_ENST00000396673.1_Missense_Mutation_p.N66I|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.N66I|STK33_ENST00000396672.1_Missense_Mutation_p.N66I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	66					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TATATCTCTGTTGATATTTTT	0.388																																							uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(196-198)AAC>ATC		serine/threonine kinase 33							80.0	76.0	77.0					11																	8496256		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8496256T>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.197A>T	11.37:g.8496256T>A	ENSP00000416750:p.Asn66Ile					STK33_uc001mgj.1_Missense_Mutation_p.N66I|STK33_uc001mgk.1_Missense_Mutation_p.N66I|STK33_uc010rbn.1_Missense_Mutation_p.N25I|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	p.N66I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	1	1116	-			66					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.197A>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	9.708	1.156221	0.21454	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T;T	0.70986	-0.51;-0.51;-0.51;-0.53;-0.51;-0.53;-0.33;0.35;1.52	4.59	-6.2	0.02072	.	0.582253	0.16848	N	0.197050	T	0.43809	0.1264	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18587	-1.0332	10	0.87932	D	0	.	1.173	0.01829	0.2387:0.2007:0.1179:0.4427	.	66	Q9BYT3	STK33_HUMAN	I	66;66;66;66;25;16;25;25;66	ENSP00000416750:N66I;ENSP00000320754:N66I;ENSP00000379905:N66I;ENSP00000379906:N66I;ENSP00000436418:N25I;ENSP00000436905:N16I;ENSP00000391362:N25I;ENSP00000411510:N25I;ENSP00000403599:N66I	ENSP00000320754:N66I	N	-	2	0	STK33	8452832	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.153000	0.03169	-1.141000	0.02873	-0.376000	0.06991	AAC		0.388	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		9	41	0	0	0	0.004482	0	9	41				
IPO7	10527	broad.mit.edu	37	11	9445353	9445353	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:9445353G>A	ENST00000379719.3	+	10	1213	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	357					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTTCCATTGATGTGCTATA	0.313																																							uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(1069-1071)TTG>TTA		importin 7							150.0	142.0	145.0					11																	9445353		2201	4295	6496	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9445353G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1071G>A	11.37:g.9445353G>A							p.L357L	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	10	1213	+			357					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.1071G>A	CCDS31425.1																																																																																				0.313	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		10	95	0	0	0	0.008291	0	10	95				
IPO7	10527	broad.mit.edu	37	11	9445360	9445360	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:9445360T>C	ENST00000379719.3	+	10	1220	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	360					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTGATGTGCTATACAGATGC	0.318																																							uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(1078-1080)TAT>CAT		importin 7							157.0	148.0	151.0					11																	9445360		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9445360T>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1078T>C	11.37:g.9445360T>C	ENSP00000369042:p.Tyr360His						p.Y360H	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	10	1220	+			360					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1078T>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.823148	0.71143	.	.	ENSG00000205339	ENST00000379719	T	0.67865	-0.29	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	L	0.39633	1.23	0.80722	D	1	D	0.60575	0.988	D	0.71870	0.975	T	0.71876	-0.4460	10	0.30854	T	0.27	.	15.58	0.76425	0.0:0.0:0.0:1.0	.	360	O95373	IPO7_HUMAN	H	360	ENSP00000369042:Y360H	ENSP00000369042:Y360H	Y	+	1	0	IPO7	9401936	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.011000	0.88624	2.084000	0.62774	0.460000	0.39030	TAT		0.318	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		12	101	0	0	0	0.001855	0	12	101				
CSNK2A3	283106	broad.mit.edu	37	11	11373918	11373918	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:11373918C>A	ENST00000528848.2	-	1	986	c.749G>T	c.(748-750)gGg>gTg	p.G250V	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										ATCTTCTGTCCCCAGAAACTT	0.418																																							uc001mjp.2		NA																	0					0						c.(748-750)GGG>GTG		casein kinase II alpha 1 subunit isoform a																																				SO:0001583	missense	283106							g.chr11:11373918C>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.749G>T	11.37:g.11373918C>A	ENSP00000473553:p.Gly250Val					GALNTL4_uc001mjo.2_Intron	p.G250V	NM_177559	NP_808227					1	987	-									Missense_Mutation	SNP	ENST00000528848.2	37	c.749G>T	CCDS59224.1																																																																																				0.418	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		18	113	1	0	2.70662e-09	0.009535	3.18245e-09	18	113				
CSNK2A3	283106	broad.mit.edu	37	11	11374301	11374301	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:11374301C>A	ENST00000528848.2	-	1	603	c.366G>T	c.(364-366)aaG>aaT	p.K122N	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										GGTACAATTGCTTGAAGTCTG	0.438																																							uc001mjp.2		NA																	0					0						c.(364-366)AAG>AAT		casein kinase II alpha 1 subunit isoform a																																				SO:0001583	missense	283106							g.chr11:11374301C>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.366G>T	11.37:g.11374301C>A	ENSP00000473553:p.Lys122Asn					GALNTL4_uc001mjo.2_Intron	p.K122N	NM_177559	NP_808227					1	604	-									Missense_Mutation	SNP	ENST00000528848.2	37	c.366G>T	CCDS59224.1																																																																																				0.438	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		18	108	1	0	2.94398e-08	0.007413	3.39732e-08	18	108				
SPON1	10418	broad.mit.edu	37	11	14280894	14280894	+	RNA	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:14280894A>T	ENST00000310358.7	+	0	2096							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGGCATGGGCATGAGGTCCCG	0.627																																							uc001mle.2		NA																	0					0						c.(1561-1563)ATG>TTG		spondin 1, extracellular matrix protein							37.0	40.0	39.0					11																	14280894		2146	4248	6394			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14280894A>T	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14280894A>T							p.M521L	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	13	2099	+			521			TSP type-1 2.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37	c.1561A>T		.	.	.	.	.	.	.	.	.	.	A	5.949	0.359158	0.11239	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.87	4.74	0.60224	.	0.335037	0.35970	N	0.002861	T	0.34106	0.0886	.	.	.	0.27325	N	0.956938	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	7	0.11182	T	0.66	.	11.5635	0.50792	0.8505:0.1495:0.0:0.0	.	521	Q9HCB6	SPON1_HUMAN	L	520	.	ENSP00000309297:M520L	M	+	1	0	SPON1	14237470	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.947000	0.56652	1.031000	0.39867	0.533000	0.62120	ATG		0.627	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		5	8	0	0	0	0.001168	0	5	8				
INSC	387755	broad.mit.edu	37	11	15212305	15212305	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:15212305G>A	ENST00000379554.3	+	6	825	c.779G>A	c.(778-780)gGg>gAg	p.G260E	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.G213E|INSC_ENST00000525218.1_Missense_Mutation_p.G213E|INSC_ENST00000528567.1_Missense_Mutation_p.G213E|INSC_ENST00000379556.3_Missense_Mutation_p.G213E|INSC_ENST00000424273.1_Missense_Mutation_p.G213E	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	260					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.G260V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCCACCACAGGGAACCTGTTC	0.512																																							uc001mly.2		NA																	1	Substitution - Missense(1)		breast(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(778-780)GGG>GAG		inscuteable isoform a							138.0	142.0	141.0					11																	15212305		1941	4135	6076	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15212305G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.779G>A	11.37:g.15212305G>A	ENSP00000368872:p.Gly260Glu					INSC_uc001mlz.2_Missense_Mutation_p.G213E|INSC_uc001mma.2_Missense_Mutation_p.G213E|INSC_uc010rcs.1_Missense_Mutation_p.G248E|INSC_uc001mmb.2_Missense_Mutation_p.G213E|INSC_uc001mmc.2_Missense_Mutation_p.G213E	p.G260E	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			6	825	+			260					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.779G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110248	0.56398	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.47869	0.83;0.83;0.87;0.83;0.83;0.87	6.16	4.26	0.50523	Armadillo-like helical (1);Armadillo-type fold (1);	0.317779	0.38436	N	0.001698	T	0.35335	0.0928	L	0.29908	0.895	0.36410	D	0.863672	P;P;P;P	0.47762	0.9;0.557;0.589;0.763	B;B;B;B	0.42522	0.39;0.167;0.164;0.293	T	0.40384	-0.9566	10	0.45353	T	0.12	-26.4832	8.7826	0.34800	0.0759:0.0:0.774:0.1502	.	248;213;213;260	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	E	260;213;213;248;213;213;213	ENSP00000368872:G260E;ENSP00000368874:G213E;ENSP00000389161:G213E;ENSP00000435022:G213E;ENSP00000436194:G213E;ENSP00000436113:G213E	ENSP00000368872:G260E	G	+	2	0	INSC	15168881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.727000	0.47311	0.898000	0.36418	0.650000	0.86243	GGG		0.512	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		35	133	0	0	0	0.004878	0	35	133				
SOX6	55553	broad.mit.edu	37	11	16077358	16077358	+	Silent	SNP	C	C	A	rs139974161		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:16077358C>A	ENST00000352083.6	-	10	1268	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	SOX6_ENST00000396356.3_Silent_p.T397T|SOX6_ENST00000527619.1_Silent_p.T359T|SOX6_ENST00000316399.6_Silent_p.T397T|SOX6_ENST00000528429.1_Silent_p.T397T|SOX6_ENST00000528252.1_Silent_p.T356T			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	397					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAGGTGAGACCGTCCCTGCTG	0.502																																							uc001mme.2		NA																	0				ovary(3)	3						c.(1228-1230)ACG>ACT		SRY (sex determining region Y)-box 6 isoform 4							185.0	152.0	164.0					11																	16077358		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16077358C>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1191G>T	11.37:g.16077358C>A						SOX6_uc001mmd.2_Silent_p.T359T|SOX6_uc001mmf.2_Silent_p.T356T|SOX6_uc001mmg.2_Silent_p.T397T	p.T410T	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			10	1263	-			397					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1230G>T																																																																																					0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		15	57	1	0	2.32078e-09	0.003163	2.73137e-09	15	57				
PLEKHA7	144100	broad.mit.edu	37	11	16838711	16838711	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:16838711C>A	ENST00000355661.3	-	11	1512	c.1502G>T	c.(1501-1503)cGa>cTa	p.R501L	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R501L|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R501L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	501					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGGCTGGCTCGGTCCTGCGC	0.642																																							uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1501-1503)CGA>CTA		pleckstrin homology domain containing, family A							65.0	71.0	69.0					11																	16838711		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838711C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1502G>T	11.37:g.16838711C>A	ENSP00000347883:p.Arg501Leu					PLEKHA7_uc010rcu.1_Missense_Mutation_p.R501L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R75L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R209L	p.R501L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			11	1517	-			501					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1502G>T	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545450|4.545450	0.86022|0.86022	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.10573	.|2.86;2.86;2.87	4.97|4.97	4.06|4.06	0.47325|0.47325	.|.	.|0.060013	.|0.64402	.|D	.|0.000002	.|T	.|0.28499	.|0.0705	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.995;1.0	.|T	.|0.01570	.|-1.1322	.|10	.|0.87932	.|D	.|0	-6.5398|-6.5398	13.2351|13.2351	0.59965|0.59965	0.0:0.9229:0.0:0.0771|0.0:0.9229:0.0:0.0771	.|.	.|75;501;501;501	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	X|L	132|501	.|ENSP00000435389:R501L;ENSP00000347883:R501L;ENSP00000416895:R501L	.|ENSP00000347883:R501L	E|R	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16795287|16795287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.781000|5.781000	0.68964|0.68964	1.102000|1.102000	0.41551|0.41551	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.642	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		21	111	1	0	2.89027e-11	0.002299	3.49756e-11	21	111				
ABCC8	6833	broad.mit.edu	37	11	17430022	17430022	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17430022G>T	ENST00000389817.3	-	23	2805	c.2737C>A	c.(2737-2739)Ctc>Atc	p.L913I	ABCC8_ENST00000302539.4_Missense_Mutation_p.L914I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	913	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AAGTCCTTGAGGGTACCCTCC	0.552																																							uc001mnc.2		NA																	0				ovary(1)	1						c.(2737-2739)CTC>ATC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						120.0	113.0	115.0					11																	17430022		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17430022G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2737C>A	11.37:g.17430022G>T	ENSP00000374467:p.Leu913Ile						p.L913I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	23	2863	-			913			ABC transporter 1.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2737C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492331	0.84962	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.82344	-1.6;-1.6	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	L	0.37630	1.12	0.80722	D	1	B	0.33904	0.431	B	0.37480	0.251	T	0.79252	-0.1880	10	0.54805	T	0.06	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	913	Q09428	ABCC8_HUMAN	I	913;914;917	ENSP00000374467:L913I;ENSP00000303960:L914I	ENSP00000303960:L914I	L	-	1	0	ABCC8	17386598	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.601000	0.82783	2.873000	0.98535	0.563000	0.77884	CTC		0.552	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		21	107	1	0	3.8784e-16	0.001882	4.89324e-16	21	107				
KCNC1	3746	broad.mit.edu	37	11	17793334	17793334	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17793334G>A	ENST00000379472.3	+	2	723	c.693G>A	c.(691-693)acG>acA	p.T231T	KCNC1_ENST00000265969.6_Silent_p.T231T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	231					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCAATGGCACGCAAGTGCGCT	0.577																																							uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(691-693)ACG>ACA		Shaw-related voltage-gated potassium channel							258.0	206.0	224.0					11																	17793334		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793334G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.693G>A	11.37:g.17793334G>A						KCNC1_uc009yhc.1_Silent_p.T231T	p.T231T	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	748	+			231					K4DI87	Silent	SNP	ENST00000379472.3	37	c.693G>A	CCDS7827.1																																																																																				0.577	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		16	86	0	0	0	0.003163	0	16	86				
MRGPRX3	117195	broad.mit.edu	37	11	18159239	18159239	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:18159239C>A	ENST00000396275.2	+	3	851	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGACTTCCTGTTTAGTGG	0.522																																							uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(490-492)CTG>ATG		MAS-related GPR, member X3							176.0	158.0	164.0					11																	18159239		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159239C>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.490C>A	11.37:g.18159239C>A	ENSP00000379571:p.Leu164Met						p.L164M	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	851	+			164			Extracellular (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.490C>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179501	0.21787	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.72167	-0.63;-0.63	1.46	-0.689	0.11313	GPCR, rhodopsin-like superfamily (1);	0.940999	0.08687	N	0.908492	T	0.79335	0.4428	M	0.92026	3.265	0.09310	N	1	P	0.49559	0.925	P	0.53760	0.734	T	0.66412	-0.5930	10	0.66056	D	0.02	.	1.9653	0.03394	0.2614:0.3505:0.0:0.388	.	164	Q96LB0	MRGX3_HUMAN	M	164	ENSP00000379571:L164M;ENSP00000436242:L164M	ENSP00000379571:L164M	L	+	1	2	MRGPRX3	18115815	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-3.162000	0.00577	-0.212000	0.10109	-0.450000	0.05554	CTG		0.522	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		11	117	1	0	0.000978159	0.000978	0.00103296	11	117				
FANCF	2188	broad.mit.edu	37	11	22647210	22647210	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:22647210A>C	ENST00000327470.3	-	1	177	c.147T>G	c.(145-147)ggT>ggG	p.G49G	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	49					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGCCATGCCGACCAAAGCGCC	0.677			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001mql.1		NA	yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			0				skin(1)	1						c.(145-147)GGT>GGG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							26.0	30.0	29.0					11																	22647210		2203	4299	6502	SO:0001819	synonymous_variant	2188	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647210A>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.147T>G	11.37:g.22647210A>C							p.G49G	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	178	-			49					Q52LM0	Silent	SNP	ENST00000327470.3	37	c.147T>G	CCDS7857.1																																																																																				0.677	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		6	42	0	0	0	0.001168	0	6	42				
DCDC1	341019	broad.mit.edu	37	11	31086146	31086146	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:31086146C>A	ENST00000597505.1	-	18	2460	c.2461G>T	c.(2461-2463)Ggt>Tgt	p.G821C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGCTTCAGACCAAGGTTGCTG	0.423																																							uc009yjk.1		NA																	0					NA						c.(805-807)GGT>TGT		RecName: Full=Doublecortin domain-containing protein 5;							99.0	97.0	97.0					11																	31086146		1855	4097	5952	SO:0001583	missense	0							g.chr11:31086146C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2461G>T	11.37:g.31086146C>A	ENSP00000472625:p.Gly821Cys					uc009yjl.1_Missense_Mutation_p.G197C|DCDC1_uc001msu.1_Missense_Mutation_p.G440C	p.G269C							8	874	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.805G>T																																																																																					0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		23	83	1	0	2.70639e-06	0.002299	2.998e-06	23	83				
LRRC4C	57689	broad.mit.edu	37	11	40136488	40136488	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:40136488G>A	ENST00000278198.2	-	2	3318	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	LRRC4C_ENST00000528697.1_Missense_Mutation_p.S452F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S452F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S452F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	452					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAAAAGTAAGAGAAAGGAGT	0.488																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1354-1356)TCT>TTT		netrin-G1 ligand precursor							150.0	144.0	146.0					11																	40136488		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136488G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1355C>T	11.37:g.40136488G>A	ENSP00000278198:p.Ser452Phe					LRRC4C_uc001mxc.1_Missense_Mutation_p.S448F|LRRC4C_uc001mxd.1_Missense_Mutation_p.S448F|LRRC4C_uc001mxb.1_Missense_Mutation_p.S448F	p.S452F	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3319	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	452					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1355C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871286	0.51695	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.84	5.84	0.93424	.	0.099413	0.64402	D	0.000003	T	0.64046	0.2563	L	0.38175	1.15	0.50632	D	0.999886	P	0.42973	0.796	P	0.58266	0.836	T	0.63422	-0.6641	10	0.66056	D	0.02	.	19.1433	0.93455	0.0:0.0:1.0:0.0	.	452	Q9HCJ2	LRC4C_HUMAN	F	452	ENSP00000278198:S452F;ENSP00000436976:S452F;ENSP00000437132:S452F;ENSP00000434761:S452F	ENSP00000278198:S452F	S	-	2	0	LRRC4C	40093064	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.018000	0.76406	2.760000	0.94817	0.655000	0.94253	TCT		0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		40	73	0	0	0	0.00623	0	40	73				
LRRC4C	57689	broad.mit.edu	37	11	40137478	40137478	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:40137478C>A	ENST00000278198.2	-	2	2328	c.365G>T	c.(364-366)gGt>gTt	p.G122V	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G122V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G122V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G122V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	122					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTCGCCAGACCATTGAAAGC	0.433																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(364-366)GGT>GTT		netrin-G1 ligand precursor							70.0	70.0	70.0					11																	40137478		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137478C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.365G>T	11.37:g.40137478C>A	ENSP00000278198:p.Gly122Val					LRRC4C_uc001mxc.1_Missense_Mutation_p.G118V|LRRC4C_uc001mxd.1_Missense_Mutation_p.G118V|LRRC4C_uc001mxb.1_Missense_Mutation_p.G118V	p.G122V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2329	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	122			LRR 2.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.365G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279524	0.59758	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.97432	1.0016	10	0.87932	D	0	.	18.8821	0.92360	0.0:1.0:0.0:0.0	.	122	Q9HCJ2	LRC4C_HUMAN	V	122	ENSP00000278198:G122V;ENSP00000436976:G122V;ENSP00000437132:G122V;ENSP00000434761:G122V	ENSP00000278198:G122V	G	-	2	0	LRRC4C	40094054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.706000	0.92434	0.585000	0.79938	GGT		0.433	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		22	39	1	0	1.50039e-11	0.001882	1.82274e-11	22	39				
CHRM4	1132	broad.mit.edu	37	11	46408003	46408003	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46408003A>G	ENST00000433765.2	-	1	104	c.105T>C	c.(103-105)atT>atC	p.I35I		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	35					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCACTGTGGCAATGAAGACCA	0.552																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1		NA																	0					0						c.(103-105)ATT>ATC		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						95.0	98.0	97.0					11																	46408003		2172	4278	6450	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46408003A>G	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.105T>C	11.37:g.46408003A>G							p.I35I	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	105	-			35			Helical; Name=1; (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.105T>C	CCDS44581.1																																																																																				0.552	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		18	67	0	0	0	0.010504	0	18	67				
LRP4	4038	broad.mit.edu	37	11	46921473	46921473	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46921473C>A	ENST00000378623.1	-	4	613	c.371G>T	c.(370-372)cGg>cTg	p.R124L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	124	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCACAGACTCCGGATGCAGTA	0.632																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(370-372)CGG>CTG		low density lipoprotein receptor-related protein							91.0	83.0	86.0					11																	46921473		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921473C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.371G>T	11.37:g.46921473C>A	ENSP00000367888:p.Arg124Leu					LRP4_uc009ylh.1_Missense_Mutation_p.R75L	p.R124L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	4	517	-			124			Extracellular (Potential).|LDL-receptor class A 3.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.371G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640528	0.67244	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.95447	-3.71;-3.71	5.43	4.52	0.55395	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	N	0.16066	0.365	0.80722	D	1	P;D	0.52996	0.835;0.957	P;P	0.53146	0.503;0.719	D	0.92671	0.6150	10	0.38643	T	0.18	.	14.3372	0.66600	0.0:0.9287:0.0:0.0713	.	169;124	C9JRN7;O75096	.;LRP4_HUMAN	L	124;75	ENSP00000367888:R124L;ENSP00000434763:R75L	ENSP00000367888:R124L	R	-	2	0	LRP4	46878049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.710000	0.61873	1.446000	0.47643	0.511000	0.50034	CGG		0.632	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		39	56	1	0	2.95478e-19	0.00874	3.78552e-19	39	56				
AGBL2	79841	broad.mit.edu	37	11	47681749	47681749	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:47681749G>T	ENST00000525123.1	-	19	2970	c.2685C>A	c.(2683-2685)tcC>tcA	p.S895S	AGBL2_ENST00000298861.4_Silent_p.S895S|AGBL2_ENST00000357610.3_Silent_p.S897S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	895						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATATGTGCAAGGATGGGTATG	0.522																																							uc001ngg.2		NA																	0				ovary(2)	2						c.(2683-2685)TCC>TCA		carboxypeptidase 2, cytosolic							131.0	113.0	119.0					11																	47681749		2201	4298	6499	SO:0001819	synonymous_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47681749G>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2685C>A	11.37:g.47681749G>T						AGBL2_uc001ngf.2_RNA	p.S895S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			18	2785	-			895					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	c.2685C>A	CCDS7944.1																																																																																				0.522	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		7	63	1	0	0.00307968	0.00308	0.0032006	7	63				
OR4A5	81318	broad.mit.edu	37	11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A	rs192882980	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453																																							uc001nhi.1		NA																	1	Substitution - Missense(1)		stomach(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(283-285)TGC>TTC		olfactory receptor, family 4, subfamily A,							65.0	67.0	66.0					11																	51412112		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412112C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.284G>T	11.37:g.51412112C>A	ENSP00000367664:p.Cys95Phe						p.C95F	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	284	-		all_lung(304;0.236)	95			Extracellular (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.284G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	9.163	1.019311	0.19355	.	.	ENSG00000221840	ENST00000319760	T	0.00547	6.66	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.02083	0.0065	H	0.99117	4.435	0.42167	D	0.991622	P	0.41450	0.75	B	0.43360	0.417	T	0.02893	-1.1097	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	95	Q8NH83	OR4A5_HUMAN	F	95	ENSP00000367664:C95F	ENSP00000367664:C95F	C	-	2	0	OR4A5	51268688	1.000000	0.71417	0.029000	0.17559	0.021000	0.10359	4.827000	0.62723	1.394000	0.46624	0.162000	0.16502	TGC		0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		23	62	1	0	6.44725e-10	0.002299	7.68236e-10	23	62				
OR4C46	119749	broad.mit.edu	37	11	51515322	51515322	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:51515322G>T	ENST00000328188.1	+	1	41	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14E(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTTTTGCTGGGGCTTACAGAG	0.333																																							uc010ric.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)GGG>GTG		olfactory receptor, family 4, subfamily C,							143.0	138.0	139.0					11																	51515322		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515322G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.41G>T	11.37:g.51515322G>T	ENSP00000329056:p.Gly14Val						p.G14V	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	41	+			14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.41G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281054	0.23392	.	.	ENSG00000185926	ENST00000328188	T	0.00659	5.94	2.63	2.63	0.31362	.	0.000000	0.37437	U	0.002096	T	0.06371	0.0164	H	0.95260	3.645	0.51767	D	0.999937	D	0.89917	1.0	D	0.79784	0.993	T	0.01894	-1.1252	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	14	A6NHA9	O4C46_HUMAN	V	14	ENSP00000329056:G14V	ENSP00000329056:G14V	G	+	2	0	OR4C46	51371898	1.000000	0.71417	0.451000	0.26982	0.026000	0.11368	5.218000	0.65257	1.513000	0.48852	0.134000	0.15878	GGG		0.333	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		35	70	1	0	1.66425e-11	0.004878	2.01983e-11	35	70				
OR8H3	390152	broad.mit.edu	37	11	55890409	55890409	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55890409G>T	ENST00000313472.3	+	1	561	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTTTAGCTCTGTCCTGCACTG	0.423																																							uc001nii.1		NA																	0				ovary(2)	2						c.(559-561)CTG>CTT		olfactory receptor, family 8, subfamily H,							235.0	215.0	222.0					11																	55890409		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890409G>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.561G>T	11.37:g.55890409G>T							p.L187L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	561	+	Esophageal squamous(21;0.00693)		187			Extracellular (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.561G>T	CCDS31519.1																																																																																				0.423	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		43	226	1	0	7.05121e-23	0.002522	9.14672e-23	43	226				
OR8H3	390152	broad.mit.edu	37	11	55890411	55890411	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55890411C>T	ENST00000313472.3	+	1	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTAGCTCTGTCCTGCACTGAC	0.418																																							uc001nii.1		NA																	0				ovary(2)	2						c.(562-564)TCC>TTC		olfactory receptor, family 8, subfamily H,							235.0	214.0	221.0					11																	55890411		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890411C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.563C>T	11.37:g.55890411C>T	ENSP00000323928:p.Ser188Phe						p.S188F	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	563	+	Esophageal squamous(21;0.00693)		188			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.563C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487690	0.44249	.	.	ENSG00000181761	ENST00000313472	T	0.00299	8.22	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.00845	0.0028	M	0.89353	3.025	0.32618	N	0.523759	D	0.89917	1.0	D	0.97110	1.0	T	0.38001	-0.9681	10	0.87932	D	0	.	15.6872	0.77421	0.0:1.0:0.0:0.0	.	188	Q8N146	OR8H3_HUMAN	F	188	ENSP00000323928:S188F	ENSP00000323928:S188F	S	+	2	0	OR8H3	55646987	0.000000	0.05858	0.954000	0.39281	0.428000	0.31595	1.062000	0.30555	1.734000	0.51633	0.173000	0.16961	TCC		0.418	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		42	221	0	0	0	0.009718	0	42	221				
OR8J3	81168	broad.mit.edu	37	11	55904663	55904663	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55904663A>G	ENST00000301529.1	-	1	531	c.532T>C	c.(532-534)Tac>Cac	p.Y178H		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATATCACAGTAAAAATGATTG	0.348																																							uc010riz.1		NA																	0				skin(2)	2						c.(532-534)TAC>CAC		olfactory receptor, family 8, subfamily J,							94.0	93.0	94.0					11																	55904663		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904663A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.532T>C	11.37:g.55904663A>G	ENSP00000301529:p.Tyr178His						p.Y178H	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	532	-	Esophageal squamous(21;0.00693)		178			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.532T>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.692489	0.48202	.	.	ENSG00000167822	ENST00000301529	T	0.00130	8.69	3.26	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.324271	0.27004	N	0.021418	T	0.00468	0.0015	M	0.89601	3.045	0.09310	N	1	D	0.63880	0.993	D	0.73708	0.981	T	0.26292	-1.0107	10	0.87932	D	0	.	7.6064	0.28105	0.8905:0.0:0.1095:0.0	.	178	Q8NGG0	OR8J3_HUMAN	H	178	ENSP00000301529:Y178H	ENSP00000301529:Y178H	Y	-	1	0	OR8J3	55661239	0.022000	0.18835	0.649000	0.29536	0.915000	0.54546	2.818000	0.48041	1.268000	0.44264	0.240000	0.17902	TAC		0.348	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		18	71	0	0	0	0.006122	0	18	71				
OR8K5	219453	broad.mit.edu	37	11	55927589	55927589	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55927589C>T	ENST00000313447.1	-	1	204	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAGATCAACAAAAGCCAAA	0.408																																							uc010rja.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(205-207)GTT>ATT		olfactory receptor, family 8, subfamily K,							110.0	108.0	109.0					11																	55927589		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927589C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.205G>A	11.37:g.55927589C>T	ENSP00000323853:p.Val69Ile						p.V69I	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	205	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	69			Helical; Name=2; (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.205G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058602	0.01950	.	.	ENSG00000181752	ENST00000313447	T	0.02916	4.11	3.87	-0.778	0.10977	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	N	0.03881	-0.34	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.49123	-0.8972	9	0.19147	T	0.46	.	0.7643	0.01012	0.1495:0.2637:0.2402:0.3467	.	69	Q8NH50	OR8K5_HUMAN	I	69	ENSP00000323853:V69I	ENSP00000323853:V69I	V	-	1	0	OR8K5	55684165	0.000000	0.05858	0.926000	0.36857	0.115000	0.19883	-2.424000	0.01029	0.098000	0.17522	-0.263000	0.10527	GTT		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		31	102	0	0	0	0.002096	0	31	102				
OR10Q1	219960	broad.mit.edu	37	11	57995971	57995971	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:57995971C>T	ENST00000316770.2	-	1	419	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGCCACATAGCGGTCATAGGC	0.607																																							uc010rkd.1		NA																	0				ovary(2)	2						c.(376-378)CGC>CAC		olfactory receptor, family 10, subfamily Q,							90.0	76.0	80.0					11																	57995971		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995971C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.377G>A	11.37:g.57995971C>T	ENSP00000314324:p.Arg126His						p.R126H	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	377	-		Breast(21;0.0589)	126			Cytoplasmic (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.377G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318816	0.23994	.	.	ENSG00000180475	ENST00000316770	T	0.77489	-1.1	4.45	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001325	T	0.76962	0.4061	M	0.89163	3.01	0.28083	N	0.932118	B	0.32382	0.368	B	0.21546	0.035	T	0.72462	-0.4286	10	0.87932	D	0	.	10.1616	0.42855	0.1545:0.6968:0.1487:0.0	.	126	Q8NGQ4	O10Q1_HUMAN	H	126	ENSP00000314324:R126H	ENSP00000314324:R126H	R	-	2	0	OR10Q1	57752547	0.538000	0.26394	0.002000	0.10522	0.047000	0.14425	2.545000	0.45769	0.476000	0.27440	0.557000	0.71058	CGC		0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		8	30	0	0	0	0.00308	0	8	30				
OR5B12	390191	broad.mit.edu	37	11	58207488	58207488	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58207488A>C	ENST00000302572.2	-	1	158	c.137T>G	c.(136-138)tTg>tGg	p.L46W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGTAGAATCAATTCAATCAT	0.493																																							uc010rkh.1		NA																	0					0						c.(136-138)TTG>TGG		olfactory receptor, family 5, subfamily B,							74.0	82.0	79.0					11																	58207488		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207488A>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.137T>G	11.37:g.58207488A>C	ENSP00000306657:p.Leu46Trp						p.L46W	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	137	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	46			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.137T>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879866	0.33162	.	.	ENSG00000172362	ENST00000302572	T	0.03094	4.05	4.74	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34580	N	0.003843	T	0.27063	0.0663	H	0.97540	4.025	0.25800	N	0.984526	D	0.89917	1.0	D	0.78314	0.991	T	0.36040	-0.9764	10	0.87932	D	0	-15.2075	10.0116	0.41990	0.8297:0.1703:0.0:0.0	.	46	Q96R08	OR5BC_HUMAN	W	46	ENSP00000306657:L46W	ENSP00000306657:L46W	L	-	2	0	OR5B12	57964064	0.004000	0.15560	0.124000	0.21820	0.083000	0.17756	2.289000	0.43523	0.917000	0.36895	0.459000	0.35465	TTG		0.493	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		15	51	0	0	0	0.004007	0	15	51				
CNTF	1270	broad.mit.edu	37	11	58391564	58391564	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58391564G>T	ENST00000361987.4	+	2	252	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	58					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGGATGCCAGTGGCAAGCAC	0.527																																							uc001nna.3		NA																	0				ovary(1)	1						c.(172-174)GTG>TTG		ciliary neurotrophic factor							122.0	110.0	114.0					11																	58391564		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391564G>T	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.172G>T	11.37:g.58391564G>T	ENSP00000355370:p.Val58Leu					ZFP91-CNTF_uc010rkm.1_RNA	p.V58L	NM_000614	NP_000605	P26441	CNTF_HUMAN			2	252	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	58					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.172G>T	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906289	0.33628	.	.	ENSG00000242689	ENST00000361987	T	0.34275	1.37	5.82	-6.57	0.01842	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.20901	0.0503	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.27020	-1.0086	9	0.27785	T	0.31	-0.4346	12.0681	0.53601	0.2639:0.1237:0.6124:0.0	.	58	P26441	CNTF_HUMAN	L	58	ENSP00000355370:V58L	ENSP00000447778:V58L	V	+	1	0	CNTF	58148140	0.000000	0.05858	0.007000	0.13788	0.836000	0.47400	-1.836000	0.01690	-1.046000	0.03246	-0.290000	0.09829	GTG		0.527	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		8	59	1	0	0.000274275	0.004482	0.000291872	8	59				
OR4D9	390199	broad.mit.edu	37	11	59282678	59282678	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:59282678T>C	ENST00000329328.3	+	1	293	c.293T>C	c.(292-294)gTc>gCc	p.V98A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGTGGCTGTGTCACTCAAATG	0.473																																							uc010rkv.1		NA																	0					0						c.(292-294)GTC>GCC		olfactory receptor, family 4, subfamily D,							103.0	99.0	100.0					11																	59282678		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282678T>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.293T>C	11.37:g.59282678T>C	ENSP00000328563:p.Val98Ala						p.V98A	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	293	+			98			Extracellular (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.293T>C	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287386	0.23478	.	.	ENSG00000172742	ENST00000329328	T	0.00421	7.46	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.501675	0.14725	U	0.302115	T	0.00210	0.0006	N	0.03948	-0.315	0.20074	N	0.999931	B	0.17038	0.02	B	0.17722	0.019	T	0.50915	-0.8771	10	0.87932	D	0	.	12.3048	0.54895	0.0:0.0:0.0:1.0	.	98	Q8NGE8	OR4D9_HUMAN	A	98	ENSP00000328563:V98A	ENSP00000328563:V98A	V	+	2	0	OR4D9	59039254	0.091000	0.21658	0.323000	0.25347	0.083000	0.17756	2.786000	0.47790	1.629000	0.50426	0.460000	0.39030	GTC		0.473	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		9	75	0	0	0	0.006214	0	9	75				
DDB1	1642	broad.mit.edu	37	11	61097030	61097030	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:61097030G>A	ENST00000301764.7	-	4	751	c.354C>T	c.(352-354)acC>acT	p.T118T	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	118	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAATAATGCCGGTCTCTGAGG	0.507								Nucleotide excision repair (NER)																															uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(352-354)ACC>ACT	NER	damage-specific DNA binding protein 1							33.0	31.0	32.0					11																	61097030		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61097030G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.354C>T	11.37:g.61097030G>A						DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.T118T|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Silent_p.T118T|DDB1_uc009ynl.1_Intron	p.T118T	NM_001923	NP_001914	Q16531	DDB1_HUMAN			4	580	-			118			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.354C>T	CCDS31576.1																																																																																				0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		4	19	0	0	0	0.000602	0	4	19				
DAGLA	747	broad.mit.edu	37	11	61511354	61511354	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:61511354T>C	ENST00000257215.5	+	20	2638	c.2522T>C	c.(2521-2523)cTg>cCg	p.L841P	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	841					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACTGAGCTGCTGGCGGCCGAC	0.672																																							uc001nsa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2521-2523)CTG>CCG		neural stem cell-derived dendrite regulator							91.0	105.0	100.0					11																	61511354		2119	4152	6271	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511354T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2522T>C	11.37:g.61511354T>C	ENSP00000257215:p.Leu841Pro						p.L841P	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2633	+			841			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2522T>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586718	0.46110	.	.	ENSG00000134780	ENST00000257215	T	0.37235	1.21	3.21	3.21	0.36854	.	0.000000	0.64402	D	0.000003	T	0.23572	0.0570	N	0.24115	0.695	0.80722	D	1	P	0.50617	0.937	B	0.39027	0.288	T	0.14896	-1.0456	10	0.87932	D	0	-13.5494	12.5539	0.56242	0.0:0.0:0.0:1.0	.	841	Q9Y4D2	DGLA_HUMAN	P	841	ENSP00000257215:L841P	ENSP00000257215:L841P	L	+	2	0	DAGLA	61267930	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.565000	0.53798	1.716000	0.51395	0.459000	0.35465	CTG		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		21	283	0	0	0	0.00333	0	21	283				
EEF1G	1937	broad.mit.edu	37	11	62340201	62340201	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:62340201T>A	ENST00000329251.4	-	2	156	c.26A>T	c.(25-27)tAt>tTt	p.Y9F	EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.Y59F|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	9	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTTCAGGATACGTGTACAG	0.522																																							uc001ntm.1		NA																	0					0						c.(25-27)TAT>TTT		eukaryotic translation elongation factor 1							46.0	47.0	46.0					11																	62340201		1895	4116	6011	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62340201T>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.26A>T	11.37:g.62340201T>A	ENSP00000331901:p.Tyr9Phe					EEF1G_uc010rlw.1_Missense_Mutation_p.Y59F|EEF1G_uc001ntn.1_5'UTR	p.Y9F	NM_001404	NP_001395	P26641	EF1G_HUMAN			2	172	-			9			GST N-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.26A>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021769	0.75275	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.06528	3.29;3.29	4.56	4.56	0.56223	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.154758	0.44483	D	0.000456	T	0.08268	0.0206	L	0.41824	1.3	0.58432	D	0.999997	B;B	0.27700	0.033;0.186	B;B	0.37387	0.033;0.248	T	0.34551	-0.9824	10	0.21540	T	0.41	.	12.1727	0.54167	0.0:0.0:0.0:1.0	.	59;9	B4DTG2;P26641	.;EF1G_HUMAN	F	9;59	ENSP00000331901:Y9F;ENSP00000367258:Y59F	ENSP00000331901:Y9F	Y	-	2	0	EEF1G	62096777	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.568000	0.82369	1.838000	0.53458	0.528000	0.53228	TAT		0.522	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		9	42	0	0	0	0.006214	0	9	42				
TMEM179B	374395	broad.mit.edu	37	11	62557415	62557415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:62557415C>T	ENST00000333449.4	+	5	561	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	186						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCAGGTCGTGCAGTGGAAGTC	0.562																																							uc001nvd.3		NA																	0					0						c.(556-558)CAG>TAG		transmembrane protein 179B							181.0	172.0	175.0					11																	62557415		2201	4299	6500	SO:0001587	stop_gained	374395					integral to membrane		g.chr11:62557415C>T	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.556C>T	11.37:g.62557415C>T	ENSP00000333697:p.Gln186*						p.Q186*	NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN			5	586	+			186			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000333449.4	37	c.556C>T	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371378	0.61624	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	4.75	0.60458	.	0.185981	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.8562	0.52439	0.0:0.8243:0.1757:0.0	.	.	.	.	X	186	.	ENSP00000333697:Q186X	Q	+	1	0	TMEM179B	62313991	0.998000	0.40836	0.950000	0.38849	0.962000	0.63368	1.724000	0.38064	2.704000	0.92352	0.561000	0.74099	CAG		0.562	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		9	161	0	0	0	0.006214	0	9	161				
SLC22A9	114571	broad.mit.edu	37	11	63141428	63141428	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:63141428G>A	ENST00000279178.3	+	4	973	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	SLC22A9_ENST00000310969.4_Nonsense_Mutation_p.W190*	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	242					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTGCCCTTCTGGTATTGCATT	0.478																																							uc001nww.2		NA																	0				breast(2)|large_intestine(1)	3						c.(724-726)GGT>AGT		solute carrier family 22 (organic anion/cation							92.0	86.0	88.0					11																	63141428		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63141428G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.724G>A	11.37:g.63141428G>A	ENSP00000279178:p.Gly242Ser					SLC22A9_uc001nwx.2_RNA	p.G242S	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			4	992	+			242			Helical; (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.724G>A	CCDS8043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230261|4.230261	0.79688|0.79688	.|.	.|.	ENSG00000149742|ENSG00000149742	ENST00000279178|ENST00000310969	T|.	0.76578|.	-1.03|.	4.35|4.35	-7.39|-7.39	0.01402|0.01402	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.483054|.	0.20834|.	N|.	0.084836|.	T|.	0.04407|.	0.0121|.	N|N	0.00138|0.00138	-2.015|-2.015	0.52099|0.52099	A|A	0.999943|0.999943	B|.	0.12013|.	0.005|.	B|.	0.16289|.	0.015|.	T|.	0.47129|.	-0.9141|.	9|.	0.02654|0.87932	T|D	1|0	.|.	5.3483|5.3483	0.16022|0.16022	0.6505:0.0:0.2107:0.1389|0.6505:0.0:0.2107:0.1389	.|.	242|.	Q8IVM8|.	S22A9_HUMAN|.	S|X	242|190	ENSP00000279178:G242S|.	ENSP00000279178:G242S|ENSP00000311527:W190X	G|W	+|+	1|2	0|0	SLC22A9|SLC22A9	62898004|62898004	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.040000|-0.040000	0.12104|0.12104	-1.442000|-1.442000	0.01955|0.01955	-0.347000|-0.347000	0.07816|0.07816	GGT|TGG		0.478	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		18	44	0	0	0	0.00499	0	18	44				
PLCB3	5331	broad.mit.edu	37	11	64026363	64026363	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:64026363G>A	ENST00000540288.1	+	12	1363	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	PLCB3_ENST00000279230.6_Silent_p.K420K|PLCB3_ENST00000325234.5_Silent_p.K353K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	420	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCAGGGCAAAGCAACAGGCAA	0.607																																							uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1258-1260)AAG>AAA		phospholipase C beta 3							64.0	67.0	66.0					11																	64026363		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026363G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1260G>A	11.37:g.64026363G>A						PLCB3_uc009ypg.1_Silent_p.K420K|PLCB3_uc009yph.1_Silent_p.K353K|PLCB3_uc009ypi.2_Silent_p.K420K	p.K420K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			12	1260	+			420			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.1260G>A	CCDS8064.1																																																																																				0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			13	48	0	0	0	0.00245	0	13	48				
MRPL49	740	broad.mit.edu	37	11	64893273	64893273	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:64893273A>G	ENST00000279242.2	+	4	449	c.430A>G	c.(430-432)Aca>Gca	p.T144A	MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000534078.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	144					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CAATGAGGTGACAGGTACCCT	0.557																																							uc001oda.1		NA																	0					0						c.(430-432)ACA>GCA		mitochondrial ribosomal protein L49							89.0	93.0	92.0					11																	64893273		2201	4297	6498	SO:0001583	missense	740				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:64893273A>G		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.430A>G	11.37:g.64893273A>G	ENSP00000279242:p.Thr144Ala					MRPL49_uc001ocz.1_RNA	p.T144A	NM_004927	NP_004918	Q13405	RM49_HUMAN			4	521	+			144					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.430A>G	CCDS8096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.93|13.93	2.383710|2.383710	0.42308|0.42308	.|.	.|.	ENSG00000149792|ENSG00000149792	ENST00000533943|ENST00000279242	.|T	.|0.48522	.|0.81	5.42|5.42	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28599|0.28599	0.0708|0.0708	L|L	0.33624|0.33624	1.015|1.015	0.80722|0.80722	D|D	1|1	.|P	.|0.38129	.|0.619	.|B	.|0.30316	.|0.114	T|T	0.06534|0.06534	-1.0821|-1.0821	5|10	.|0.17369	.|T	.|0.5	-4.1145|-4.1145	8.7805|8.7805	0.34789|0.34789	0.9118:0.0:0.0882:0.0|0.9118:0.0:0.0882:0.0	.|.	.|144	.|Q13405	.|RM49_HUMAN	G|A	104|144	.|ENSP00000279242:T144A	.|ENSP00000279242:T144A	D|T	+|+	2|1	0|0	MRPL49|MRPL49	64649849|64649849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.714000|3.714000	0.54889|0.54889	2.060000|2.060000	0.61445|0.61445	0.454000|0.454000	0.30748|0.30748	GAC|ACA		0.557	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		29	122	0	0	0	0.005443	0	29	122				
TIGD3	220359	broad.mit.edu	37	11	65123341	65123341	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65123341T>C	ENST00000309880.5	+	2	269	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	21	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ATCCAGGTGCTGGAACTCCTG	0.602																																							uc001odo.3		NA																	0					0						c.(61-63)CTG>CCG		tigger transposable element derived 3							54.0	57.0	56.0					11																	65123341		2201	4296	6497	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123341T>C		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.62T>C	11.37:g.65123341T>C	ENSP00000308354:p.Leu21Pro						p.L21P	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	225	+			21			HTH psq-type.			Missense_Mutation	SNP	ENST00000309880.5	37	c.62T>C	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948119	0.73787	.	.	ENSG00000173825	ENST00000309880	T	0.48522	0.81	4.94	4.94	0.65067	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.26598	N	0.023482	T	0.68256	0.2981	M	0.79926	2.475	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.72507	-0.4272	10	0.72032	D	0.01	-13.6989	11.3222	0.49428	0.0:0.0:0.0:1.0	.	21	Q6B0B8	TIGD3_HUMAN	P	21	ENSP00000308354:L21P	ENSP00000308354:L21P	L	+	2	0	TIGD3	64879917	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.825000	0.62708	1.999000	0.58509	0.374000	0.22700	CTG		0.602	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		14	76	0	0	0	0.00245	0	14	76				
TIGD3	220359	broad.mit.edu	37	11	65124103	65124103	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65124103G>A	ENST00000309880.5	+	2	1031	c.824G>A	c.(823-825)gGc>gAc	p.G275D		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	275	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GAGCTGGCAGGCCTGCCTGGG	0.647																																							uc001odo.3		NA																	0					0						c.(823-825)GGC>GAC		tigger transposable element derived 3							46.0	50.0	49.0					11																	65124103		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124103G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.824G>A	11.37:g.65124103G>A	ENSP00000308354:p.Gly275Asp						p.G275D	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	987	+			275			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.824G>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	3.106	-0.183615	0.06340	.	.	ENSG00000173825	ENST00000309880	T	0.40476	1.03	3.83	2.91	0.33838	.	.	.	.	.	T	0.34483	0.0899	L	0.56769	1.78	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.18429	-1.0337	9	0.16420	T	0.52	-14.1125	6.6718	0.23072	0.1281:0.0:0.8719:0.0	.	275	Q6B0B8	TIGD3_HUMAN	D	275	ENSP00000308354:G275D	ENSP00000308354:G275D	G	+	2	0	TIGD3	64880679	0.025000	0.19082	0.028000	0.17463	0.798000	0.45092	1.320000	0.33666	2.158000	0.67659	0.456000	0.33151	GGC		0.647	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		10	70	0	0	0	0.006214	0	10	70				
CTSW	1521	broad.mit.edu	37	11	65650585	65650585	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65650585T>C	ENST00000307886.3	+	8	837	c.791T>C	c.(790-792)aTc>aCc	p.I264T	CTSW_ENST00000528419.1_Missense_Mutation_p.I264T|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	264					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACCGTGACCATCAACATGAAG	0.612																																							uc001ogc.1		NA																	0				central_nervous_system(1)	1						c.(790-792)ATC>ACC		cathepsin W preproprotein							192.0	168.0	176.0					11																	65650585		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650585T>C	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.791T>C	11.37:g.65650585T>C	ENSP00000311300:p.Ile264Thr					CTSW_uc001ogb.1_Missense_Mutation_p.I264T	p.I264T	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	8	833	+			264					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.791T>C	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502630	0.44455	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.36699	1.24;1.24	5.38	5.38	0.77491	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.66519	0.2797	M	0.92555	3.32	0.45541	D	0.998499	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.958	T	0.74262	-0.3722	10	0.62326	D	0.03	.	11.7685	0.51945	0.0:0.0:0.0:1.0	.	264;264	P56202;E9PI30	CATW_HUMAN;.	T	264	ENSP00000311300:I264T;ENSP00000436568:I264T	ENSP00000311300:I264T	I	+	2	0	CTSW	65407161	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.804000	0.55568	2.045000	0.60652	0.402000	0.26972	ATC		0.612	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		33	147	0	0	0	0.003271	0	33	147				
PACS1	55690	broad.mit.edu	37	11	65988100	65988100	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65988100A>T	ENST00000320580.4	+	9	1071		c.e9-1			NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1						protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTTTCCCTGCAGGTGGGCTTT	0.502																																							uc001oha.1		NA																	0				ovary(6)	6						c.e9-2		phosphofurin acidic cluster sorting protein 1							76.0	72.0	73.0					11																	65988100		2201	4295	6496	SO:0001630	splice_region_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988100A>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1039-1A>T	11.37:g.65988100A>T							p.V347_splice	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			9	1173	+								Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Splice_Site	SNP	ENST00000320580.4	37	c.1039_splice	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517886	0.64634	.	.	ENSG00000175115	ENST00000320580	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACS1	65744676	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	6.357000	0.73051	1.968000	0.57251	0.397000	0.26171	.		0.502	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	Intron	22	32	0	0	0	0.002299	0	22	32				
ZDHHC24	254359	broad.mit.edu	37	11	66311439	66311439	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:66311439A>G	ENST00000310442.3	-	2	529	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.C99R|ACTN3_ENST00000513398.1_RNA|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	99						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TGGCTTTGGCATTGGTAGCAG	0.662											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001oin.1		NA																	0					0						c.(295-297)TGC>CGC		zinc finger, DHHC-type containing 24							46.0	52.0	50.0					11																	66311439		2197	4295	6492	SO:0001583	missense	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66311439A>G	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.295T>C	11.37:g.66311439A>G	ENSP00000309429:p.Cys99Arg		OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	ACTN3_uc010rpi.1_5'Flank|ACTN3_uc001oio.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Missense_Mutation_p.C99R	p.C99R	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN			2	492	-			99			DHHC-type.		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	c.295T>C	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273856	0.59649	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	T;T	0.55760	0.5;0.5	3.61	2.41	0.29592	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.062472	0.64402	D	0.000003	T	0.75102	0.3804	H	0.94964	3.605	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.996;0.998	T	0.74281	-0.3716	10	0.87932	D	0	-17.8841	5.9937	0.19480	0.8745:0.0:0.1255:0.0	.	99;99	E9PLR9;Q6UX98	.;ZDH24_HUMAN	R	99	ENSP00000431321:C99R;ENSP00000309429:C99R	ENSP00000309429:C99R	C	-	1	0	ZDHHC24	66068015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	0.525000	0.28522	0.379000	0.24179	TGC		0.662	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		7	75	0	0	0	0.001984	0	7	75				
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:66411054C>T	ENST00000409406.1	+	2	1323	c.546C>T	c.(544-546)cgC>cgT	p.R182R	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.R182R|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.R157R|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Silent_p.R182R|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.R157R|RBM4_ENST00000503028.2_Silent_p.R182R|RBM4_ENST00000506523.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTCAGGCCGCGTGGCAGACT	0.557																																							uc009yrj.2		NA																	0				ovary(1)	1						c.(544-546)CGC>CGT		RNA binding motif protein 4							71.0	79.0	76.0					11																	66411054		2194	4292	6486	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66411054C>T	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.546C>T	11.37:g.66411054C>T						RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1034	+			182					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.546C>T	CCDS41676.1																																																																																				0.557	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		13	47	0	0	0	0.001855	0	13	47				
AIP	9049	broad.mit.edu	37	11	67258406	67258406	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:67258406G>A	ENST00000279146.3	+	6	1053	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	PITPNM1_ENST00000526450.1_5'Flank	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	312					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CTGGAGGCACGGATCCGGCAG	0.642									Familial Isolated Pituitary Adenoma																														uc001olv.2		NA																	0					0						c.(934-936)CGG>CAG		aryl hydrocarbon receptor interacting protein																																				SO:0001583	missense	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67258406G>A	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.935G>A	11.37:g.67258406G>A	ENSP00000279146:p.Arg312Gln						p.R312Q	NM_003977	NP_003968	O00170	AIP_HUMAN			6	1060	+			312					A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.935G>A	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819240	0.50633	.	.	ENSG00000110711	ENST00000279146	T	0.74106	-0.81	5.39	4.48	0.54585	.	0.197286	0.40302	N	0.001131	T	0.64549	0.2608	L	0.45352	1.415	0.48901	D	0.999723	P	0.34462	0.454	B	0.30401	0.115	T	0.62459	-0.6850	10	0.30078	T	0.28	-38.4962	12.9293	0.58278	0.0796:0.0:0.9204:0.0	.	312	O00170	AIP_HUMAN	Q	312	ENSP00000279146:R312Q	ENSP00000279146:R312Q	R	+	2	0	AIP	67014982	0.990000	0.36364	0.891000	0.34965	0.841000	0.47740	4.241000	0.58707	1.415000	0.47037	0.561000	0.74099	CGG		0.642	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			13	21	0	0	0	0.004007	0	13	21				
TCIRG1	10312	broad.mit.edu	37	11	67815252	67815252	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:67815252G>A	ENST00000265686.3	+	12	1552	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	TCIRG1_ENST00000532635.1_Missense_Mutation_p.A266T|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	482					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCCGCCATGGCCAACCAGTC	0.682																																							uc001one.2		NA																	0				ovary(1)	1						c.(1444-1446)GCC>ACC		T-cell, immune regulator 1 isoform a							68.0	78.0	75.0					11																	67815252		2200	4292	6492	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67815252G>A	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1444G>A	11.37:g.67815252G>A	ENSP00000265686:p.Ala482Thr					TCIRG1_uc001ong.2_Missense_Mutation_p.A266T|TCIRG1_uc001onh.2_Missense_Mutation_p.A184T|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	p.A482T	NM_006019	NP_006010	Q13488	VPP3_HUMAN			12	1552	+			482			Cytoplasmic (Potential).		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1444G>A	CCDS8177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.143461|2.143461	0.37825|0.37825	.|.	.|.	ENSG00000110719|ENSG00000110719	ENST00000265686;ENST00000532635|ENST00000529364	D;D|.	0.88277|.	-1.84;-2.36|.	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	0.615055|.	0.16641|.	N|.	0.205625|.	T|.	0.56470|.	0.1987|.	L|L	0.43923|0.43923	1.385|1.385	0.41259|0.41259	D|D	0.986767|0.986767	P|.	0.42337|.	0.776|.	P|.	0.45794|.	0.493|.	T|.	0.53920|.	-0.8370|.	10|.	0.11794|.	T|.	0.64|.	-14.1197|-14.1197	10.8473|10.8473	0.46751|0.46751	0.0:0.1926:0.8074:0.0|0.0:0.1926:0.8074:0.0	.|.	482|.	Q13488|.	VPP3_HUMAN|.	T|X	482;266|285	ENSP00000265686:A482T;ENSP00000434407:A266T|.	ENSP00000265686:A482T|.	A|W	+|+	1|3	0|0	TCIRG1|TCIRG1	67571828|67571828	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.347000|2.347000	0.44036|0.44036	2.091000|2.091000	0.63221|0.63221	0.462000|0.462000	0.41574|0.41574	GCC|TGG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		26	147	0	0	0	0.008361	0	26	147				
NUMA1	4926	broad.mit.edu	37	11	71719744	71719744	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:71719744T>C	ENST00000393695.3	-	20	5537	c.5206A>G	c.(5206-5208)Agt>Ggt	p.S1736G	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1722G|NUMA1_ENST00000351960.6_Missense_Mutation_p.S600G	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGTGATACTGAGTGGGGTC	0.522			T	RARA	APL																																		uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5206-5208)AGT>GGT		nuclear mitotic apparatus protein 1							63.0	62.0	62.0					11																	71719744		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719744T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5206A>G	11.37:g.71719744T>C	ENSP00000377298:p.Ser1736Gly					NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.S1285G|NUMA1_uc001ork.1_Missense_Mutation_p.S600G|NUMA1_uc001orm.1_Missense_Mutation_p.S1722G|NUMA1_uc001orn.2_Missense_Mutation_p.S1299G	p.S1736G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			20	5378	-			1736						Missense_Mutation	SNP	ENST00000393695.3	37	c.5206A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100769	0.37048	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.18960	2.18;2.64;2.63	4.74	-0.753	0.11068	.	0.460849	0.20591	N	0.089353	T	0.06781	0.0173	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;P	0.42248	0.034;0.073;0.013;0.034;0.774	B;B;B;B;B	0.32864	0.022;0.037;0.037;0.022;0.154	T	0.32534	-0.9903	10	0.22109	T	0.4	.	2.7665	0.05321	0.1309:0.0828:0.2962:0.4901	.	1742;1206;1722;1736;600	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9	.;.;.;NUMA1_HUMAN;.	G	600;1722;1736;1285;691	ENSP00000260051:S600G;ENSP00000351851:S1722G;ENSP00000377298:S1736G	ENSP00000260051:S600G	S	-	1	0	NUMA1	71397392	0.995000	0.38212	0.024000	0.17045	0.973000	0.67179	1.150000	0.31639	-0.165000	0.10908	0.459000	0.35465	AGT		0.522	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			24	40	0	0	0	0.004656	0	24	40				
STARD10	10809	broad.mit.edu	37	11	72466013	72466013	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:72466013C>T	ENST00000334805.6	-	7	1724	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	STARD10_ENST00000545082.1_Missense_Mutation_p.A240T|STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000393609.3_5'Flank|STARD10_ENST00000538536.1_Missense_Mutation_p.A223T|STARD10_ENST00000543304.1_Missense_Mutation_p.A269T|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	269					bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CTGCTCTCGGCCACCGCGCTC	0.706																																							uc001osy.2		NA																	0					0						c.(805-807)GCC>ACC		START domain containing 10							19.0	22.0	21.0					11																	72466013		2161	4236	6397	SO:0001583	missense	10809							g.chr11:72466013C>T	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.805G>A	11.37:g.72466013C>T	ENSP00000335247:p.Ala269Thr					ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.A269T|STARD10_uc001ota.2_Missense_Mutation_p.A223T|STARD10_uc001otb.2_Missense_Mutation_p.A269T|ARAP1_uc001osu.2_5'Flank	p.A269T	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		7	1096	-			269					O60532	Missense_Mutation	SNP	ENST00000334805.6	37	c.805G>A	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	8.632	0.893903	0.17613	.	.	ENSG00000214530	ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082	T;T;T;T	0.42513	1.54;1.54;0.97;0.97	4.99	3.04	0.35103	.	0.875964	0.09769	N	0.758276	T	0.22205	0.0535	N	0.12182	0.205	0.23978	N	0.996282	B;B	0.18310	0.017;0.027	B;B	0.10450	0.005;0.004	T	0.28618	-1.0038	10	0.12430	T	0.62	-0.1948	7.019	0.24904	0.0:0.6986:0.0:0.3014	.	223;269	F5GY11;Q9Y365	.;PCTL_HUMAN	T	269;269;223;240	ENSP00000438792:A269T;ENSP00000335247:A269T;ENSP00000440016:A223T;ENSP00000443548:A240T	ENSP00000335247:A269T	A	-	1	0	STARD10	72143661	0.003000	0.15002	0.991000	0.47740	0.868000	0.49771	-1.146000	0.03191	0.627000	0.30340	0.484000	0.47621	GCC		0.706	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1			3	21	0	0	0	0.009096	0	3	21				
C2CD3	26005	broad.mit.edu	37	11	73765676	73765676	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:73765676C>A	ENST00000334126.7	-	26	5357	c.5131G>T	c.(5131-5133)Gtc>Ttc	p.V1711F	C2CD3_ENST00000313663.7_Missense_Mutation_p.V1711F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1711	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTTGAAGACCAGGGTTTGT	0.353																																							uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(5131-5133)GTC>TTC		C2 calcium-dependent domain containing 3							115.0	118.0	117.0					11																	73765676		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73765676C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5131G>T	11.37:g.73765676C>A	ENSP00000334379:p.Val1711Phe					C2CD3_uc001out.2_RNA	p.V1711F	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			26	5358	-	Breast(11;4.16e-06)		1711			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5131G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.363320	0.95877	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.69685	-0.42;-0.42;-0.42	5.73	5.73	0.89815	.	0.057557	0.64402	D	0.000002	T	0.73140	0.3549	M	0.64997	1.995	0.58432	D	0.999995	P	0.43542	0.81	P	0.46975	0.533	T	0.75525	-0.3287	10	0.72032	D	0.01	-15.6549	19.4935	0.95062	0.0:1.0:0.0:0.0	.	1711	Q4AC94-1	.	F	1711;1711;1692;519	ENSP00000334379:V1711F;ENSP00000323339:V1711F;ENSP00000388750:V519F	ENSP00000323339:V1711F	V	-	1	0	C2CD3	73443324	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.498000	0.81546	2.712000	0.92718	0.555000	0.69702	GTC		0.353	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		12	98	1	0	2.27111e-07	0.001368	2.58487e-07	12	98				
MOGAT2	80168	broad.mit.edu	37	11	75439835	75439835	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:75439835G>T	ENST00000198801.5	+	5	721	c.651G>T	c.(649-651)ggG>ggT	p.G217G	MOGAT2_ENST00000526712.1_Splice_Site_p.G135G	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	217					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TTGTCTCCAGGGCACCCCTGG	0.532																																							uc010rru.1		NA																	0				ovary(2)	2						c.(649-651)GGG>GGT		monoacylglycerol O-acyltransferase 2							63.0	65.0	64.0					11																	75439835		2200	4293	6493	SO:0001630	splice_region_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439835G>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.651-1G>T	11.37:g.75439835G>T						MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.G135G	p.G217G	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			5	651	+	Ovarian(111;0.103)		217					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.651G>T	CCDS8240.1																																																																																				0.532	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098	Silent	21	67	1	0	0.00121646	0.008871	0.00127919	21	67				
OMP	4975	broad.mit.edu	37	11	76814356	76814356	+	Silent	SNP	C	C	T	rs2233550	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:76814356C>T	ENST00000529803.1	+	1	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	157					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCAAGGCCTCCGTGGTTTTTA	0.602													C|||	21	0.00419329	0.0159	0.0	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0						uc010rsk.1		NA																	0					0						c.(469-471)TCC>TCT		olfactory marker protein		C	,	65,3881		1,63,1909	56.0	62.0	60.0		,471	-10.4	0.2	11	dbSNP_98	60	0,8280		0,0,4140	no	intron,coding-synonymous	CAPN5,OMP	NM_004055.4,NM_006189.1	,	1,63,6049	TT,TC,CC		0.0,1.6472,0.5317	,	,157/164	76814356	65,12161	1973	4140	6113	SO:0001819	synonymous_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76814356C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.471C>T	11.37:g.76814356C>T						CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.S157S	NM_006189	NP_006180	P47874	OMP_HUMAN			1	471	+			157					Q562G2	Silent	SNP	ENST00000529803.1	37	c.471C>T	CCDS53682.1																																																																																				0.602	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		20	89	0	0	0	0.001882	0	20	89				
GAB2	9846	broad.mit.edu	37	11	77961261	77961261	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:77961261C>T	ENST00000361507.4	-	3	647	c.562G>A	c.(562-564)Gca>Aca	p.A188T	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.A150T	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	188					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTGAGGTGCGCTGGTGGAC	0.557																																							uc001ozh.2		NA																	0				ovary(5)|lung(1)	6						c.(562-564)GCA>ACA		GRB2-associated binding protein 2 isoform a							208.0	191.0	197.0					11																	77961261		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961261C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.562G>A	11.37:g.77961261C>T	ENSP00000354952:p.Ala188Thr					GAB2_uc001ozg.2_Missense_Mutation_p.A150T	p.A188T	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	562	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		188					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.562G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304512	0.40795	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.15139	2.45;2.66	5.65	5.65	0.86999	.	0.000000	0.64402	U	0.000001	T	0.41050	0.1142	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02251	-1.1188	10	0.17369	T	0.5	-12.3665	19.9142	0.97043	0.0:1.0:0.0:0.0	.	188	Q9UQC2	GAB2_HUMAN	T	150;188	ENSP00000343959:A150T;ENSP00000354952:A188T	ENSP00000343959:A150T	A	-	1	0	GAB2	77638909	1.000000	0.71417	0.963000	0.40424	0.042000	0.13812	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GCA		0.557	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		25	198	0	0	0	0.00333	0	25	198				
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:83195190C>G	ENST00000398309.2	-	17	2430	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q	DLG2_ENST00000537455.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.E621Q|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.E693Q|DLG2_ENST00000543673.1_Missense_Mutation_p.E759Q|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.E759Q	NM_001364.3	NP_001355.2	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	359					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408																																							uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1960-1962)GAA>CAA		chapsyn-110 isoform 2							117.0	120.0	119.0					11																	83195190		2192	4298	6490	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83195190C>G	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1960G>C	11.37:g.83195190C>G	ENSP00000381355:p.Glu654Gln					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.E759Q|DLG2_uc010rtb.1_Missense_Mutation_p.E621Q|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	p.E654Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN			17	2263	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	654					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398309.2	37	c.1960G>C	CCDS41696.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238028	0.39598	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T	0.50001	2.53;2.52;2.52;2.47;2.34;0.76;1.42	5.29	5.29	0.74685	Src homology-3 domain (1);	0.078590	0.47852	D	0.000207	T	0.41650	0.1168	L	0.46157	1.445	0.80722	D	1	P;B;P	0.36086	0.501;0.275;0.536	B;B;B	0.29862	0.081;0.101;0.108	T	0.26815	-1.0092	9	.	.	.	.	19.126	0.93384	0.0:1.0:0.0:0.0	.	621;759;654	E9PIW2;Q15700-2;Q15700	.;.;DLG2_HUMAN	Q	654;759;759;693;759;621;23;136	ENSP00000381355:E654Q;ENSP00000365272:E759Q;ENSP00000441994:E759Q;ENSP00000280241:E693Q;ENSP00000433848:E621Q;ENSP00000409133:E23Q;ENSP00000391017:E136Q	.	E	-	1	0	DLG2	82872838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.746000	0.94184	0.591000	0.81541	GAA		0.408	DLG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259243.3	NM_001364		17	87	0	0	0	0.007413	0	17	87				
FAT3	120114	broad.mit.edu	37	11	92085701	92085701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:92085701G>T	ENST00000298047.6	+	1	440	c.423G>T	c.(421-423)tgG>tgT	p.W141C	FAT3_ENST00000409404.2_Missense_Mutation_p.W141C|FAT3_ENST00000541502.1_Missense_Mutation_p.W141C|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	141	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGCATGGACCAAAGTGA	0.373										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(421-423)TGG>TGT		FAT tumor suppressor homolog 3							56.0	56.0	56.0					11																	92085701		1841	4092	5933	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085701G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.423G>T	11.37:g.92085701G>T	ENSP00000298047:p.Trp141Cys	TCGA Ovarian(4;0.039)					p.W141C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	440	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	141			Cadherin 1.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.423G>T		.	.	.	.	.	.	.	.	.	.	G	15.88	2.963995	0.53507	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.74002	-0.79;-0.8;0.54	5.53	5.53	0.82687	.	.	.	.	.	T	0.81711	0.4880	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.79680	-0.1702	9	0.38643	T	0.18	.	14.4227	0.67196	0.0:0.1472:0.8528:0.0	.	141	Q8TDW7-3	.	C	141	ENSP00000298047:W141C;ENSP00000387040:W141C;ENSP00000443786:W141C	ENSP00000298047:W141C	W	+	3	0	FAT3	91725349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.620000	0.61226	2.756000	0.94617	0.655000	0.94253	TGG		0.373	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	26	1	0	5.18039e-06	0.00308	5.7182e-06	8	26				
SLC36A4	120103	broad.mit.edu	37	11	92881785	92881785	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:92881785G>A	ENST00000326402.4	-	11	1563	c.1433C>T	c.(1432-1434)cCt>cTt	p.P478L	SLC36A4_ENST00000529184.1_Missense_Mutation_p.P343L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	478					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGGAGTAGGATAAATAAT	0.328																																							uc001pdn.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1432-1434)CCT>CTT		solute carrier family 36 (proton/amino acid							85.0	95.0	91.0					11																	92881785		2201	4298	6499	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881785G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1433C>T	11.37:g.92881785G>A	ENSP00000317382:p.Pro478Leu					uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.P343L	p.P478L	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			11	1530	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	478					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1433C>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974449	0.53720	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.04603	3.64;3.59	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.51914	1.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.00063	-1.2154	10	0.87932	D	0	-21.7894	17.5186	0.87781	0.0:0.0:1.0:0.0	.	478	Q6YBV0	S36A4_HUMAN	L	478;343	ENSP00000317382:P478L;ENSP00000436570:P343L	ENSP00000317382:P478L	P	-	2	0	SLC36A4	92521433	1.000000	0.71417	0.959000	0.39883	0.140000	0.21249	7.785000	0.85724	2.641000	0.89580	0.555000	0.69702	CCT		0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			23	106	0	0	0	0.001882	0	23	106				
TAF1D	79101	broad.mit.edu	37	11	93471430	93471430	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:93471430T>A	ENST00000448108.2	-	3	954	c.304A>T	c.(304-306)Aca>Tca	p.T102S	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	102					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GGTCTTCCTGTTGGCTGGTAC	0.358																																							uc001ped.2		NA																	0					0						c.(304-306)ACA>TCA		TATA box binding protein (TBP)-associated							152.0	158.0	156.0					11																	93471430		2201	4298	6499	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471430T>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.304A>T	11.37:g.93471430T>A	ENSP00000410409:p.Thr102Ser					SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA	p.T102S	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN			3	506	-			102					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.304A>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	T	4.819	0.152200	0.09185	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.44	4.25	0.50352	.	0.513004	0.19963	N	0.102179	T	0.20210	0.0486	L	0.31065	0.9	0.28668	N	0.905798	B	0.33940	0.433	B	0.26094	0.066	T	0.08953	-1.0697	9	0.11485	T	0.65	-13.0249	9.0442	0.36336	0.1641:0.0:0.0:0.8359	.	102	Q9H5J8	TAF1D_HUMAN	S	102	.	ENSP00000314971:T102S	T	-	1	0	TAF1D	93111078	1.000000	0.71417	0.537000	0.28052	0.035000	0.12851	2.304000	0.43655	2.191000	0.70037	0.528000	0.53228	ACA		0.358	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		27	160	0	0	0	0.002096	0	27	160				
CNTN5	53942	broad.mit.edu	37	11	99690377	99690377	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:99690377G>T	ENST00000524871.1	+	4	448	c.158G>T	c.(157-159)cGa>cTa	p.R53L	CNTN5_ENST00000527185.1_Missense_Mutation_p.R53L|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.R53L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R53L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	53					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAGACCACGATACAGCAGC	0.423																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(157-159)CGA>CTA		contactin 5 isoform long							113.0	114.0	114.0					11																	99690377		1912	4142	6054	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690377G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.158G>T	11.37:g.99690377G>T	ENSP00000435637:p.Arg53Leu					CNTN5_uc009ywv.1_Missense_Mutation_p.R53L|CNTN5_uc001pfz.2_Missense_Mutation_p.R53L|CNTN5_uc001pgb.2_Intron	p.R53L	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	497	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	53					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.158G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096003	0.56075	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56941	0.43;0.5;0.5;0.5	5.06	4.14	0.48551	.	0.104565	0.37483	N	0.002068	T	0.38692	0.1050	N	0.19112	0.55	0.45403	D	0.998385	B;B	0.32160	0.358;0.358	B;B	0.32342	0.144;0.093	T	0.42155	-0.9468	10	0.72032	D	0.01	.	13.2721	0.60167	0.0779:0.0:0.9221:0.0	.	53;53	E9PKE8;O94779	.;CNTN5_HUMAN	L	53	ENSP00000433575:R53L;ENSP00000436185:R53L;ENSP00000435637:R53L;ENSP00000279463:R53L	ENSP00000279463:R53L	R	+	2	0	CNTN5	99195587	0.998000	0.40836	0.907000	0.35723	0.653000	0.38743	6.243000	0.72384	1.444000	0.47605	0.650000	0.86243	CGA		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		5	70	1	0	5.9392e-07	0.001168	6.67422e-07	5	70				
CNTN5	53942	broad.mit.edu	37	11	100221521	100221521	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:100221521T>A	ENST00000524871.1	+	24	3409	c.3119T>A	c.(3118-3120)gTc>gAc	p.V1040D	CNTN5_ENST00000418526.2_Missense_Mutation_p.V966D|CNTN5_ENST00000279463.3_Missense_Mutation_p.V1040D|CNTN5_ENST00000528682.1_Missense_Mutation_p.V1040D|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1040	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GATGCTGGAGTCTATATTATT	0.398																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(3118-3120)GTC>GAC		contactin 5 isoform long							126.0	124.0	125.0					11																	100221521		1889	4111	6000	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100221521T>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3119T>A	11.37:g.100221521T>A	ENSP00000435637:p.Val1040Asp					CNTN5_uc001pgb.2_Missense_Mutation_p.V966D|CNTN5_uc010ruk.1_Missense_Mutation_p.V311D	p.V1040D	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	24	3458	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	1040			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.3119T>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	5.554	0.287066	0.10513	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.298786	0.36932	N	0.002321	T	0.21962	0.0529	N	0.03608	-0.345	0.48830	D	0.999712	P;P	0.47191	0.867;0.891	B;P	0.45829	0.277;0.494	T	0.12837	-1.0532	9	.	.	.	.	14.602	0.68447	0.0:0.0:0.0:1.0	.	966;1040	O94779-2;O94779	.;CNTN5_HUMAN	D	1040;1040;966;1040	ENSP00000436185:V1040D;ENSP00000435637:V1040D;ENSP00000393229:V966D;ENSP00000279463:V1040D	.	V	+	2	0	CNTN5	99726731	1.000000	0.71417	0.983000	0.44433	0.511000	0.34104	3.726000	0.54977	2.036000	0.60181	0.454000	0.30748	GTC		0.398	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		9	95	0	0	0	0.004482	0	9	95				
TMEM133	83935	broad.mit.edu	37	11	100863357	100863357	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:100863357C>A	ENST00000303130.2	+	1	547	c.318C>A	c.(316-318)acC>acA	p.T106T		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	106						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TCATTGTCACCGTTATCCCCC	0.413																																							uc001pgf.2		NA																	0					0						c.(316-318)ACC>ACA		transmembrane protein 133							170.0	159.0	163.0					11																	100863357		2203	4300	6503	SO:0001819	synonymous_variant	83935					integral to membrane		g.chr11:100863357C>A	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.318C>A	11.37:g.100863357C>A							p.T106T	NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	547	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	106			Helical; (Potential).			Silent	SNP	ENST00000303130.2	37	c.318C>A	CCDS8309.1																																																																																				0.413	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		19	242	1	0	1.45105e-14	0.006122	1.81054e-14	19	242				
MMP13	4322	broad.mit.edu	37	11	102822743	102822743	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:102822743T>C	ENST00000260302.3	-	5	825	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	MMP13_ENST00000340273.4_Missense_Mutation_p.Y266C	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	266					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CGAGTTACCATAGAGAGACTG	0.393																																							uc001phl.2		NA																	0				ovary(2)|skin(1)	3						c.(796-798)TAT>TGT		matrix metalloproteinase 13 preproprotein							217.0	223.0	221.0					11																	102822743		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822743T>C	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.797A>G	11.37:g.102822743T>C	ENSP00000260302:p.Tyr266Cys						p.Y266C	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	825	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	266					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.797A>G	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415659	0.62511	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.80653	-1.4;-1.4	5.59	5.59	0.84812	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.053265	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99851	4.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97481	1.0047	10	0.87932	D	0	.	16.0584	0.80820	0.0:0.0:0.0:1.0	.	266	P45452	MMP13_HUMAN	C	266	ENSP00000260302:Y266C;ENSP00000339672:Y266C	ENSP00000260302:Y266C	Y	-	2	0	MMP13	102327953	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	7.993000	0.88291	2.231000	0.72958	0.533000	0.62120	TAT		0.393	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		32	840	0	0	0	0.004289	0	32	840				
CASP4	837	broad.mit.edu	37	11	104815577	104815577	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104815577A>G	ENST00000444739.2	-	8	1947	c.1037T>C	c.(1036-1038)gTa>gCa	p.V346A	CASP4_ENST00000393150.3_Splice_Site_p.V290A	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	346					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGATTGCTGTACCTGAAAAAG	0.413																																							uc001pid.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1036-1038)GTA>GCA		caspase 4 isoform alpha precursor							114.0	101.0	105.0					11																	104815577		2202	4299	6501	SO:0001630	splice_region_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104815577A>G	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.1036-1T>C	11.37:g.104815577A>G						CASP4_uc001pib.1_Missense_Mutation_p.V290A|CASP4_uc009yxg.1_Missense_Mutation_p.V255A	p.V346A	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	8	1110	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	346					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.1037T>C	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.765862	0.69878	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.64803	-0.12;-0.12	5.21	5.21	0.72293	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	H	0.96916	3.905	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.89787	0.3965	10	0.87932	D	0	.	13.026	0.58814	1.0:0.0:0.0:0.0	.	346	P49662	CASP4_HUMAN	A	346;290;299	ENSP00000388566:V346A;ENSP00000376857:V290A	ENSP00000347741:V299A	V	-	2	0	CASP4	104320787	1.000000	0.71417	0.754000	0.31244	0.617000	0.37484	6.543000	0.73874	1.963000	0.57068	0.397000	0.26171	GTA		0.413	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	Missense_Mutation	10	32	0	0	0	0.006214	0	10	32				
CASP1	834	broad.mit.edu	37	11	104899951	104899951	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104899951A>G	ENST00000533400.1	-	7	941	c.906T>C	c.(904-906)tcT>tcC	p.S302S	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000593315.1_Silent_p.S281S|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000528974.1_Silent_p.S263S|CASP1_ENST00000436863.3_Silent_p.S302S|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Silent_p.S302S|CASP1_ENST00000525825.1_Silent_p.S281S|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000527979.1_Silent_p.S265S|CASP1_ENST00000393136.4_Silent_p.S281S|CASP1_ENST00000526568.1_Silent_p.S209S	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	302					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	ATAGGTTTCCAGAAACTCCTA	0.413																																					NSCLC(41;1246 1743 4934)	NSCLC(41;1246 1743 4934)	uc010rve.1		NA																	0				ovary(2)	2						c.(904-906)TCT>TCC		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						81.0	74.0	76.0					11																	104899951		2202	4299	6501	SO:0001819	synonymous_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899951A>G	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.906T>C	11.37:g.104899951A>G						CASP1_uc001pig.2_Silent_p.S209S|CASP1_uc001pik.2_Silent_p.S265S|CASP1_uc010rvf.1_Silent_p.S209S|CASP1_uc010rvg.1_Silent_p.S281S|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Silent_p.S302S|CASP1_uc009yxi.2_Silent_p.S281S|CASP1_uc010rvj.1_Silent_p.S302S|CASP1_uc009yxj.2_Silent_p.S147S|CASP1_uc010rvk.1_Silent_p.S263S	p.S302S	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	923	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	302					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	c.906T>C	CCDS8330.1																																																																																				0.413	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		6	44	0	0	0	0.001168	0	6	44				
EXPH5	23086	broad.mit.edu	37	11	108381280	108381280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:108381280C>A	ENST00000265843.4	-	6	5064	c.4954G>T	c.(4954-4956)Gag>Tag	p.E1652*	EXPH5_ENST00000525344.1_Nonsense_Mutation_p.E1645*|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.E1464*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.E1576*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1652					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAATGGACTCTGCAGATTTT	0.483																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(4954-4956)GAG>TAG		exophilin 5 isoform a							152.0	151.0	151.0					11																	108381280		2201	4298	6499	SO:0001587	stop_gained	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381280C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4954G>T	11.37:g.108381280C>A	ENSP00000265843:p.Glu1652*					EXPH5_uc010rvy.1_Nonsense_Mutation_p.E1464*|EXPH5_uc010rvz.1_Nonsense_Mutation_p.E1496*|EXPH5_uc010rwa.1_Nonsense_Mutation_p.E1576*	p.E1652*	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5065	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1652					Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	37	c.4954G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	43	10.226355	0.99364	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	.	.	.	6.16	3.23	0.37069	.	0.546439	0.17995	N	0.155099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-1.3966	8.452	0.32877	0.0:0.6111:0.2721:0.1167	.	.	.	.	X	1652;1576;1464;1645;1576	.	ENSP00000265843:E1652X	E	-	1	0	EXPH5	107886490	0.503000	0.26115	0.453000	0.27007	0.034000	0.12701	0.429000	0.21412	1.582000	0.49881	0.650000	0.86243	GAG		0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		39	115	1	0	5.04308e-16	0.00623	6.35622e-16	39	115				
NCAM1	4684	broad.mit.edu	37	11	113078037	113078037	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:113078037G>T	ENST00000533760.1	+	6	928	c.329G>T	c.(328-330)gGc>gTc	p.G110V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G227V|NCAM1_ENST00000316851.7_Missense_Mutation_p.G218V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	228	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCAACCTCGGCCAGTCCGTC	0.522																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(328-330)GGC>GTC		neural cell adhesion molecule 1 isoform 3							90.0	92.0	91.0					11																	113078037		2026	4159	6185	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078037G>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.329G>T	11.37:g.113078037G>T	ENSP00000473281:p.Gly110Val					NCAM1_uc001pno.2_Missense_Mutation_p.G110V	p.G110V	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	1023	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	228			Ig-like C2-type 3.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.329G>T		.	.	.	.	.	.	.	.	.	.	G	16.04	3.011444	0.54468	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.81415	-1.49;-1.49	5.54	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.407307	0.32301	N	0.006285	T	0.78848	0.4348	.	.	.	0.80722	D	1	P;P;B;P;P	0.43392	0.642;0.502;0.331;0.495;0.805	B;B;B;B;B	0.43867	0.295;0.203;0.224;0.356;0.434	T	0.80845	-0.1200	9	0.87932	D	0	-17.8385	10.6193	0.45470	0.1447:0.0:0.8553:0.0	.	228;228;228;228;228	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	110;227;218	ENSP00000384055:G227V;ENSP00000318472:G218V	ENSP00000318472:G218V	G	+	2	0	NCAM1	112583247	1.000000	0.71417	0.995000	0.50966	0.888000	0.51559	4.447000	0.60020	1.586000	0.49944	-0.136000	0.14681	GGC		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	97	1	0	0.000151284	0.001855	0.000161543	11	97				
NXPE1	120400	broad.mit.edu	37	11	114401078	114401078	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:114401078T>C	ENST00000424269.1	-	2	651	c.652A>G	c.(652-654)Act>Gct	p.T218A	NXPE1_ENST00000536312.1_Missense_Mutation_p.T218A|NXPE1_ENST00000251921.2_Missense_Mutation_p.T76A|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	218						extracellular region (GO:0005576)											CCACATTCAGTGAAGACATGA	0.458																																							uc001ppa.2		NA																	0					0						c.(226-228)ACT>GCT		hypothetical protein LOC120400							113.0	111.0	111.0					11																	114401078		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114401078T>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.652A>G	11.37:g.114401078T>C	ENSP00000411690:p.Thr218Ala					FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.T218A	p.T76A	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	643	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	218					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.226A>G		.	.	.	.	.	.	.	.	.	.	T	16.66	3.185431	0.57909	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.50813	2.4;2.57;0.73	4.52	-9.04	0.00734	.	0.581077	0.15546	N	0.256662	T	0.39937	0.1097	M	0.85099	2.735	0.09310	N	1	B	0.25521	0.128	B	0.25405	0.06	T	0.12400	-1.0549	10	0.31617	T	0.26	.	6.469	0.21997	0.1158:0.5225:0.0963:0.2653	.	218	F5H6W7	.	A	76;218;218	ENSP00000251921:T76A;ENSP00000411690:T218A;ENSP00000442984:T218A	ENSP00000251921:T76A	T	-	1	0	FAM55A	113906288	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-2.939000	0.00684	-2.228000	0.00721	0.533000	0.62120	ACT		0.458	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		24	63	0	0	0	0.003954	0	24	63				
APOA4	337	broad.mit.edu	37	11	116692115	116692115	+	Missense_Mutation	SNP	C	C	A	rs541515376		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:116692115C>A	ENST00000357780.3	-	3	773	c.659G>T	c.(658-660)cGc>cTc	p.R220L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	220	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGGCTGCGGCGCAGCTCCTC	0.582																																							uc001pps.1		NA																	0					0						c.(658-660)CGC>CTC		apolipoprotein A-IV precursor							153.0	151.0	152.0					11																	116692115		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692115C>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.659G>T	11.37:g.116692115C>A	ENSP00000350425:p.Arg220Leu						p.R220L	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	763	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.659G>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981173	0.74474	.	.	ENSG00000110244	ENST00000357780	T	0.78924	-1.22	4.96	2.02	0.26589	Apolipoprotein/apolipophorin (1);	0.089077	0.49916	D	0.000134	D	0.88175	0.6366	M	0.89904	3.07	0.48632	D	0.999681	D	0.89917	1.0	D	0.87578	0.998	D	0.88831	0.3305	10	0.72032	D	0.01	-22.0225	10.2756	0.43507	0.0:0.7845:0.0:0.2155	.	220	P06727	APOA4_HUMAN	L	220	ENSP00000350425:R220L	ENSP00000350425:R220L	R	-	2	0	APOA4	116197325	0.228000	0.23718	0.999000	0.59377	0.988000	0.76386	0.694000	0.25512	1.089000	0.41292	0.563000	0.77884	CGC		0.582	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		30	153	1	0	1.16021e-09	0.007291	1.37588e-09	30	153				
SIK3	23387	broad.mit.edu	37	11	116734527	116734527	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:116734527A>G	ENST00000292055.4	-	15	1677	c.1642T>C	c.(1642-1644)Tac>Cac	p.Y548H	SIK3_ENST00000542607.1_Missense_Mutation_p.Y548H|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Y606H|SIK3_ENST00000375300.1_Missense_Mutation_p.Y606H|SIK3_ENST00000434315.2_Missense_Mutation_p.Y447H|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	548					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGTCCTTGTAGGTAGAGCTG	0.537																																							uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(1642-1644)TAC>CAC		serine/threonine-protein kinase QSK							106.0	107.0	106.0					11																	116734527		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116734527A>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1642T>C	11.37:g.116734527A>G	ENSP00000292055:p.Tyr548His					SIK3_uc001ppz.2_Missense_Mutation_p.Y447H|SIK3_uc001pqa.2_Missense_Mutation_p.Y548H|SIK3_uc001ppw.2_5'UTR|SIK3_uc001ppx.2_Silent_p.P22P|SIK3_uc001pqb.2_5'Flank	p.Y548H	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			15	1678	-			548					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1642T>C	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	25.1|25.1	4.602615|4.602615	0.87157|0.87157	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.78595	.|-1.18;-1.19;-1.13;-0.7	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Protein kinase-like domain (1);	.|0.000000	.|0.37809	.|U	.|0.001930	D|D	0.82715|0.82715	0.5097|0.5097	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	D|D	0.84676|0.84676	0.0714|0.0714	5|10	.|0.66056	.|D	.|0.02	.|.	15.659|15.659	0.77169|0.77169	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|548;447;548	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	P|H	647;570|606;548;548;447	.|ENSP00000364449:Y606H;ENSP00000292055:Y548H;ENSP00000438108:Y548H;ENSP00000415873:Y447H	.|ENSP00000292055:Y548H	L|Y	-|-	2|1	0|0	SIK3|SIK3	116239737|116239737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.095000|2.095000	0.63458|0.63458	0.459000|0.459000	0.35465|0.35465	CTA|TAC		0.537	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		26	103	0	0	0	0.004656	0	26	103				
SCN2B	6327	broad.mit.edu	37	11	118037610	118037610	+	Missense_Mutation	SNP	C	C	T	rs200264107		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:118037610C>T	ENST00000278947.5	-	4	881	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	214					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTACTTGGCGCCATCATCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16481	0.001		0.0	False		,,,				2504	0.0						uc001psf.2		NA																	0					0						c.(640-642)GCC>ACC		sodium channel, voltage-gated, type II, beta		C	THR/ALA	0,4400		0,0,2200	206.0	150.0	169.0		640	-10.1	0.0	11		169	2,8590	2.2+/-6.3	0,2,4294	yes	missense	SCN2B	NM_004588.4	58	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	214/216	118037610	2,12990	2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037610C>T	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.640G>A	11.37:g.118037610C>T	ENSP00000278947:p.Ala214Thr						p.A214T	NM_004588	NP_004579	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	831	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	214			Cytoplasmic (Potential).		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.640G>A	CCDS8390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.846	0.340226	0.11069	0.0	2.33E-4	ENSG00000149575	ENST00000278947	D	0.96685	-4.09	5.04	-10.1	0.00402	.	0.581479	0.18184	N	0.149039	T	0.80470	0.4629	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74237	-0.3730	10	0.02654	T	1	-3.5364	10.8312	0.46661	0.0:0.5239:0.1623:0.3138	.	214	O60939	SCN2B_HUMAN	T	214	ENSP00000278947:A214T	ENSP00000278947:A214T	A	-	1	0	SCN2B	117542820	0.362000	0.24980	0.002000	0.10522	0.250000	0.25880	-0.067000	0.11579	-2.573000	0.00466	-0.165000	0.13383	GCC		0.617	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		15	77	0	0	0	0.006122	0	15	77				
HYOU1	10525	broad.mit.edu	37	11	118918710	118918710	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:118918710T>G	ENST00000404233.3	-	21	2583	c.2459A>C	c.(2458-2460)gAa>gCa	p.E820A	HYOU1_ENST00000525859.1_Missense_Mutation_p.E758A|HYOU1_ENST00000529972.1_Missense_Mutation_p.E758A|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	820					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGACAGCCGTTCGGGCCACTT	0.542																																							uc001puu.2		NA																	0					0						c.(2458-2460)GAA>GCA		hypoxia up-regulated 1 precursor							84.0	78.0	80.0					11																	118918710		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118918710T>G	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2459A>C	11.37:g.118918710T>G	ENSP00000384144:p.Glu820Ala					HYOU1_uc001put.2_Missense_Mutation_p.E785A|HYOU1_uc010ryu.1_Missense_Mutation_p.E778A|HYOU1_uc010ryv.1_Missense_Mutation_p.E709A|HYOU1_uc001pux.3_Missense_Mutation_p.E820A	p.E820A	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	21	2652	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	820					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2459A>C	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838741	0.71373	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01484	4.87;4.84;4.84	5.4	5.4	0.78164	.	0.162423	0.53938	D	0.000045	T	0.02380	0.0073	L	0.49350	1.555	0.80722	D	1	P;P;P;P	0.43094	0.736;0.799;0.536;0.536	B;B;B;B	0.35182	0.159;0.197;0.11;0.11	T	0.66272	-0.5965	10	0.24483	T	0.36	-23.5844	15.5898	0.76517	0.0:0.0:0.0:1.0	.	811;802;820;820	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	A	820;811;758;669;758;801	ENSP00000384144:E820A;ENSP00000437313:E758A;ENSP00000433397:E758A	ENSP00000278752:E811A	E	-	2	0	HYOU1	118423920	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.140000	0.77322	2.257000	0.74773	0.533000	0.62120	GAA		0.542	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		14	40	0	0	0	0.003163	0	14	40				
NLRX1	79671	broad.mit.edu	37	11	119045255	119045255	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:119045255A>G	ENST00000409109.1	+	6	1530	c.943A>G	c.(943-945)Acc>Gcc	p.T315A	NLRX1_ENST00000525863.1_Missense_Mutation_p.T315A|NLRX1_ENST00000292199.2_Missense_Mutation_p.T315A|NLRX1_ENST00000409991.1_Missense_Mutation_p.T315A|NLRX1_ENST00000409265.4_Missense_Mutation_p.T315A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTTCTCTGATACCAACCTGCA	0.597																																							uc001pvu.2		NA																	0				ovary(1)|skin(1)	2						c.(943-945)ACC>GCC		NLR family member X1 isoform 1							135.0	135.0	135.0					11																	119045255		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045255A>G	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.943A>G	11.37:g.119045255A>G	ENSP00000387334:p.Thr315Ala					NLRX1_uc010rzc.1_Missense_Mutation_p.T137A|NLRX1_uc001pvv.2_Missense_Mutation_p.T315A|NLRX1_uc001pvw.2_Missense_Mutation_p.T315A|NLRX1_uc001pvx.2_Missense_Mutation_p.T315A	p.T315A	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1158	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	315			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.943A>G	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437607	0.43224	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.07	6.07	0.98685	.	0.072326	0.64402	D	0.000016	T	0.73674	0.3617	N	0.12502	0.225	0.40106	D	0.97642	D;D	0.69078	0.997;0.961	P;P	0.61201	0.885;0.761	T	0.69873	-0.5027	10	0.07030	T	0.85	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	315;315	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	A	315	ENSP00000386851:T315A;ENSP00000292199:T315A;ENSP00000386858:T315A;ENSP00000387334:T315A;ENSP00000433442:T315A	ENSP00000292199:T315A	T	+	1	0	NLRX1	118550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.326000	0.78906	0.533000	0.62120	ACC		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		13	179	0	0	0	0.001368	0	13	179				
USP2	9099	broad.mit.edu	37	11	119243829	119243829	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:119243829C>T	ENST00000260187.2	-	2	656	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	121	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCTGAGGCAGTTGTTGGT	0.622																																							uc001pwm.3		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(361-363)TGC>TAC		ubiquitin specific peptidase 2 isoform a							91.0	99.0	96.0					11																	119243829		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243829C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.362G>A	11.37:g.119243829C>T	ENSP00000260187:p.Cys121Tyr					USP2_uc001pwn.3_Intron	p.C121Y	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	657	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	121			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.362G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687656	0.29962	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.17854	2.25	5.3	3.4	0.38934	.	0.578855	0.18312	N	0.145068	T	0.08714	0.0216	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20075	-1.0286	10	0.30854	T	0.27	.	9.328	0.38005	0.0:0.179:0.6729:0.1481	.	121	O75604	UBP2_HUMAN	Y	121;91;121;121	ENSP00000260187:C121Y	ENSP00000260187:C121Y	C	-	2	0	USP2	118749039	1.000000	0.71417	0.978000	0.43139	0.864000	0.49448	3.594000	0.54008	0.587000	0.29643	0.561000	0.74099	TGC		0.622	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		14	159	0	0	0	0.003163	0	14	159				
POU2F3	25833	broad.mit.edu	37	11	120176403	120176403	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:120176403G>T	ENST00000543440.2	+	8	828	c.678G>T	c.(676-678)caG>caT	p.Q226H	POU2F3_ENST00000260264.4_Missense_Mutation_p.Q228H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	226	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ACTTCAGCCAGACCACCATCT	0.577																																							uc001pxc.2		NA																	0				ovary(1)|skin(1)	2						c.(676-678)CAG>CAT		POU transcription factor							158.0	135.0	143.0					11																	120176403		2203	4299	6502	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120176403G>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.678G>T	11.37:g.120176403G>T	ENSP00000441687:p.Gln226His					POU2F3_uc010rzk.1_Missense_Mutation_p.Q180H|POU2F3_uc010rzl.1_Missense_Mutation_p.Q156H|POU2F3_uc001pxe.1_Missense_Mutation_p.Q11H	p.Q226H	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	8	780	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	226			POU-specific.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.678G>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015729	0.75161	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.71	3.84	0.44239	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.90542	3.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.94533	0.7738	10	0.87932	D	0	.	11.8895	0.52620	0.1404:0.0:0.8596:0.0	.	180;226	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	H	228;226;180;11	ENSP00000441687:Q228H;ENSP00000260264:Q226H;ENSP00000435738:Q180H;ENSP00000436236:Q11H	ENSP00000260264:Q226H	Q	+	3	2	POU2F3	119681613	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.790000	0.69038	1.422000	0.47177	0.561000	0.74099	CAG		0.577	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			24	98	1	0	9.57634e-11	0.00333	1.15212e-10	24	98				
TECTA	7007	broad.mit.edu	37	11	120983858	120983858	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:120983858G>T	ENST00000392793.1	+	5	835	c.564G>T	c.(562-564)tgG>tgT	p.W188C	TECTA_ENST00000264037.2_Missense_Mutation_p.W188C			O75443	TECTA_HUMAN	tectorin alpha	188	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAATCAACTGGACCACGGGGA	0.577											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(562-564)TGG>TGT		tectorin alpha precursor							93.0	84.0	87.0					11																	120983858		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983858G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.564G>T	11.37:g.120983858G>T	ENSP00000376543:p.Trp188Cys		OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508		p.W188C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	564	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	188			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.564G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947331	0.73672	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76186	-1.0;-1.0	5.37	5.37	0.77165	Nidogen, extracellular domain (3);	0.126422	0.56097	D	0.000021	D	0.89763	0.6809	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90662	0.4591	10	0.51188	T	0.08	.	19.3137	0.94202	0.0:0.0:1.0:0.0	.	188	O75443	TECTA_HUMAN	C	188	ENSP00000376543:W188C;ENSP00000264037:W188C	ENSP00000264037:W188C	W	+	3	0	TECTA	120489068	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.776000	0.85560	2.788000	0.95919	0.650000	0.86243	TGG		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		14	62	1	0	2.23348e-06	0.004007	2.47634e-06	14	62				
C11orf63	79864	broad.mit.edu	37	11	122775152	122775152	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:122775152G>T	ENST00000531316.1	+	2	956	c.864G>T	c.(862-864)caG>caT	p.Q288H	C11orf63_ENST00000227349.2_Splice_Site_p.Q288H|C11orf63_ENST00000307257.6_Splice_Site_p.Q288H			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	288					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATCCAGAACAGGTACGTAGTG	0.388																																							uc001pym.2		NA																	0				ovary(3)	3						c.(862-864)CAG>CAT		hypothetical protein LOC79864 isoform 1							109.0	122.0	117.0					11																	122775152		2202	4299	6501	SO:0001630	splice_region_variant	79864							g.chr11:122775152G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.864+1G>T	11.37:g.122775152G>T						C11orf63_uc001pyl.1_Missense_Mutation_p.Q288H	p.Q288H	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	1161	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	288					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.864G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663623	0.47572	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.54071	0.59;0.59	5.66	4.75	0.60458	.	0.102366	0.43579	D	0.000549	T	0.70020	0.3176	M	0.70595	2.14	0.41445	D	0.98794	D;D	0.89917	1.0;1.0	D;D	0.76575	0.964;0.988	T	0.73953	-0.3820	10	0.72032	D	0.01	-16.6444	12.9181	0.58216	0.0751:0.0:0.9249:0.0	.	288;288	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	H	288	ENSP00000227349:Q288H;ENSP00000431669:Q288H	ENSP00000227349:Q288H	Q	+	3	2	C11orf63	122280362	1.000000	0.71417	0.996000	0.52242	0.167000	0.22549	6.258000	0.72487	1.384000	0.46424	0.650000	0.86243	CAG		0.388	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	Missense_Mutation	40	151	1	0	2.26627e-22	0.007835	2.93366e-22	40	151				
OR10G7	390265	broad.mit.edu	37	11	123908953	123908953	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:123908953G>A	ENST00000330487.5	-	1	764	c.756C>T	c.(754-756)ggC>ggT	p.G252G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAGACCAGGGCCAAAGAAGC	0.567																																							uc001pzq.1		NA																	0				ovary(2)	2						c.(754-756)GGC>GGT		olfactory receptor, family 10, subfamily G,							97.0	85.0	89.0					11																	123908953		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908953G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.756C>T	11.37:g.123908953G>A							p.G252G	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	756	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	252			Helical; Name=6; (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.756C>T	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		11	59	0	0	0	0.000978	0	11	59				
PKNOX2	63876	broad.mit.edu	37	11	125280187	125280187	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125280187C>T	ENST00000298282.9	+	8	955	c.684C>T	c.(682-684)atC>atT	p.I228I	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.I164I	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	228					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGCAACATCGCCATGACAA	0.587																																							uc001qbu.2		NA																	0				ovary(3)	3						c.(682-684)ATC>ATT		PBX/knotted 1 homeobox 2							71.0	75.0	74.0					11																	125280187		2084	4218	6302	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125280187C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.684C>T	11.37:g.125280187C>T						PKNOX2_uc010saz.1_Silent_p.I199I|PKNOX2_uc010sba.1_Silent_p.I199I|PKNOX2_uc010sbb.1_Silent_p.I164I|PKNOX2_uc001qbv.2_5'Flank	p.I228I	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	8	998	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	228					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.684C>T	CCDS41730.1																																																																																				0.587	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			27	63	0	0	0	0.004656	0	27	63				
CHEK1	1111	broad.mit.edu	37	11	125525121	125525121	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125525121G>A	ENST00000534070.1	+	13	1592	c.1337G>A	c.(1336-1338)gGt>gAt	p.G446D	CHEK1_ENST00000428830.2_Splice_Site_p.G446D|CHEK1_ENST00000438015.1_Splice_Site_p.G446D|CHEK1_ENST00000278916.3_Splice_Site_p.G402D|CHEK1_ENST00000427383.2_Splice_Site_p.G462D|CHEK1_ENST00000544373.1_Splice_Site_p.G412D|CHEK1_ENST00000524737.1_Splice_Site_p.G446D|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	446	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CTAATATAGGGTGATGGATTG	0.353								Other conserved DNA damage response genes																															uc009zbo.2		NA																	0				central_nervous_system(3)|lung(2)|skin(1)	6						c.(1336-1338)GGT>GAT	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							45.0	48.0	47.0					11																	125525121		2201	4299	6500	SO:0001630	splice_region_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125525121G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1336-1G>A	11.37:g.125525121G>A						CHEK1_uc010sbh.1_Missense_Mutation_p.G462D|CHEK1_uc010sbi.1_Missense_Mutation_p.G412D|CHEK1_uc001qcf.3_Missense_Mutation_p.G446D|CHEK1_uc009zbp.2_Missense_Mutation_p.G446D|CHEK1_uc001qcg.3_Missense_Mutation_p.G446D|CHEK1_uc009zbq.2_Missense_Mutation_p.G402D|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.G94D	p.G446D	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	13	2229	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	446			Autoinhibitory region.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.1337G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637432	0.87760	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	D;D;D;T;D;D;D	0.91295	-2.43;-2.82;-2.43;-1.2;-2.43;-2.43;-2.52	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95715	0.8761	10	0.87932	D	0	-21.49	19.3311	0.94288	0.0:0.0:1.0:0.0	.	412;462;446;446	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	D	446;462;446;412;446;446;402	ENSP00000388648:G446D;ENSP00000391090:G462D;ENSP00000412504:G446D;ENSP00000442317:G412D;ENSP00000435371:G446D;ENSP00000432890:G446D;ENSP00000278916:G402D	ENSP00000278916:G402D	G	+	2	0	CHEK1	125030331	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.718000	0.84743	2.868000	0.98415	0.555000	0.69702	GGT		0.353	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	Missense_Mutation	9	20	0	0	0	0.004482	0	9	20				
HYLS1	219844	broad.mit.edu	37	11	125769723	125769723	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125769723T>A	ENST00000425380.2	+	3	1241	c.460T>A	c.(460-462)Ttt>Att	p.F154I	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.F154I|HYLS1_ENST00000356438.3_Missense_Mutation_p.F154I	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	154						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTCACAAAAATTTAACCTACC	0.398																																					Esophageal Squamous(172;2590 2636 8884 10471)	Esophageal Squamous(172;2590 2636 8884 10471)	uc009zbv.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(460-462)TTT>ATT		hydrolethalus syndrome 1							102.0	102.0	102.0					11																	125769723		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125769723T>A	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.460T>A	11.37:g.125769723T>A	ENSP00000414884:p.Phe154Ile					HYLS1_uc001qcx.3_Missense_Mutation_p.F154I|PUS3_uc001qcy.2_Intron	p.F154I	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	4	994	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	154					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.460T>A	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	T	4.556	0.103329	0.08731	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.63913	-0.07;-0.07;-0.07	5.49	-2.73	0.05950	.	0.525769	0.19479	N	0.113252	T	0.47173	0.1431	L	0.53249	1.67	0.09310	N	1	B	0.15141	0.012	B	0.20955	0.032	T	0.31696	-0.9934	10	0.22109	T	0.4	.	5.6037	0.17367	0.0:0.2574:0.2414:0.5012	.	154	Q96M11	HYLS1_HUMAN	I	154	ENSP00000348815:F154I;ENSP00000414884:F154I;ENSP00000436833:F154I	ENSP00000348815:F154I	F	+	1	0	HYLS1	125274933	0.005000	0.15991	0.085000	0.20634	0.226000	0.24999	-0.197000	0.09518	-0.676000	0.05238	-0.274000	0.10170	TTT		0.398	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		5	98	0	0	0	0.001168	0	5	98				
FAM118B	79607	broad.mit.edu	37	11	126126732	126126732	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:126126732A>G	ENST00000533050.1	+	7	1460	c.967A>G	c.(967-969)Aca>Gca	p.T323A	FAM118B_ENST00000529731.1_Missense_Mutation_p.T247A|FAM118B_ENST00000360194.4_Missense_Mutation_p.T323A	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	323										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGAGATCTCCACAAGGGGTAC	0.433																																							uc001qdf.2		NA																	0					0						c.(967-969)ACA>GCA		hypothetical protein LOC79607							153.0	158.0	156.0					11																	126126732		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126732A>G	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.967A>G	11.37:g.126126732A>G	ENSP00000433343:p.Thr323Ala					FAM118B_uc009zca.2_Missense_Mutation_p.T327A|FAM118B_uc001qdg.2_Missense_Mutation_p.T323A	p.T323A	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1150	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	323					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.967A>G	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787536	0.49997	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194	T;T;T;T	0.42513	1.53;1.52;0.97;1.52	5.14	5.14	0.70334	.	0.109400	0.64402	D	0.000008	T	0.25419	0.0618	N	0.14661	0.345	0.42346	D	0.99235	B;B;B	0.15930	0.015;0.008;0.008	B;B;B	0.17098	0.017;0.011;0.016	T	0.09015	-1.0694	10	0.07644	T	0.81	-18.1539	15.1309	0.72523	1.0:0.0:0.0:0.0	.	247;323;323	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	A	323;323;247;323	ENSP00000433343:T323A;ENSP00000434952:T323A;ENSP00000432712:T247A;ENSP00000353321:T323A	ENSP00000353321:T323A	T	+	1	0	FAM118B	125631942	1.000000	0.71417	0.867000	0.34043	0.984000	0.73092	5.737000	0.68606	2.154000	0.67381	0.482000	0.46254	ACA		0.433	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		44	145	0	0	0	0.002852	0	44	145				
NFRKB	4798	broad.mit.edu	37	11	129742993	129742993	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:129742993T>C	ENST00000446488.3	-	22	2654		c.e22-2		NFRKB_ENST00000304521.5_Splice_Site|NFRKB_ENST00000524746.1_Splice_Site|NFRKB_ENST00000524794.1_Splice_Site	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CATTACTGTCTAGTTGAGGGC	0.567																																							uc001qfi.2		NA																	0				ovary(3)	3						c.e23-1		nuclear factor related to kappaB binding protein							21.0	20.0	20.0					11																	129742993		2201	4296	6497	SO:0001630	splice_region_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129742993T>C		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.2551-2A>G	11.37:g.129742993T>C						NFRKB_uc001qfg.2_Splice_Site_p.T876_splice|NFRKB_uc001qfh.2_Splice_Site_p.T874_splice|NFRKB_uc010sbw.1_Splice_Site_p.T861_splice|NFRKB_uc009zcr.2_Splice_Site_p.T137_splice	p.T851_splice	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	2752	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)						Q12869|Q15312|Q9H048	Splice_Site	SNP	ENST00000446488.3	37	c.2551_splice	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571731	0.45798	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3855	0.66942	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFRKB	129248203	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	4.998000	0.63927	1.989000	0.58080	0.260000	0.18958	.		0.567	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	Intron	4	8	0	0	0	0.000602	0	4	8				
IGSF9B	22997	broad.mit.edu	37	11	133799598	133799598	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:133799598A>G	ENST00000321016.8	-	12	1829	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	IGSF9B_ENST00000533871.2_Silent_p.Y533Y			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	533	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGCCTCCATCATAGCCTGGTT	0.602																																							uc001qgx.3		NA																	0					0						c.(1597-1599)TAT>TAC		immunoglobulin superfamily, member 9B							121.0	138.0	132.0					11																	133799598		2084	4208	6292	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133799598A>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1599T>C	11.37:g.133799598A>G						IGSF9B_uc001qgy.1_Silent_p.Y375Y	p.Y533Y	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	12	1830	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	533			Extracellular (Potential).|Fibronectin type-III 1.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.1599T>C																																																																																					0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	55	0	0	0	0.001855	0	11	55				
ACAD8	27034	broad.mit.edu	37	11	134134824	134134824	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:134134824A>T	ENST00000281182.4	+	11	1324	c.1218A>T	c.(1216-1218)atA>atT	p.I406I	ACAD8_ENST00000374752.4_Silent_p.I279I	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	406					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TGATGAGGATACTGATCTCTA	0.512																																					GBM(65;238 1125 33403 41853 48889)	GBM(65;238 1125 33403 41853 48889)	uc001qhk.2		NA																	0					0						c.(1216-1218)ATA>ATT		acyl-Coenzyme A dehydrogenase family, member 8							219.0	197.0	204.0					11																	134134824		2201	4297	6498	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134134824A>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.1218A>T	11.37:g.134134824A>T						ACAD8_uc001qhl.2_Silent_p.I279I	p.I406I	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	11	1279	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	406					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.1218A>T	CCDS8498.1																																																																																				0.512	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		9	158	0	0	0	0.001368	0	9	158				
FGF23	8074	broad.mit.edu	37	12	4479656	4479656	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:4479656C>A	ENST00000237837.1	-	3	754	c.609G>T	c.(607-609)ccG>ccT	p.P203P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AACAGGAGGCCGGGGCCGGGG	0.706																																							uc001qmq.1		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(607-609)CCG>CCT		fibroblast growth factor 23 precursor							17.0	21.0	19.0					12																	4479656		2201	4298	6499	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479656C>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.609G>T	12.37:g.4479656C>A							p.P203P	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	755	-			203					Q4V758	Silent	SNP	ENST00000237837.1	37	c.609G>T	CCDS8526.1																																																																																				0.706	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			8	54	1	0	0.00307968	0.00308	0.0032006	8	54				
KCNA5	3741	broad.mit.edu	37	12	5154172	5154172	+	Missense_Mutation	SNP	G	G	A	rs149582940	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:5154172G>A	ENST00000252321.3	+	1	1088	c.859G>A	c.(859-861)Gcg>Acg	p.A287T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	287					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCACCCTCCGGCGCCCCACCA	0.682																																							uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(859-861)GCG>ACG		potassium voltage-gated channel, shaker-related							38.0	43.0	41.0					12																	5154172		2202	4297	6499	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154172G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.859G>A	12.37:g.5154172G>A	ENSP00000252321:p.Ala287Thr						p.A287T	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1088	+			287					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.859G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274176	0.01421	.	.	ENSG00000130037	ENST00000252321	D	0.97553	-4.43	4.77	3.84	0.44239	.	903.776000	0.00166	N	0.000000	D	0.92195	0.7525	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.82196	-0.0577	10	0.16420	T	0.52	.	10.0502	0.42210	0.0:0.2222:0.7778:0.0	.	287	P22460	KCNA5_HUMAN	T	287	ENSP00000252321:A287T	ENSP00000252321:A287T	A	+	1	0	KCNA5	5024433	0.006000	0.16342	0.004000	0.12327	0.007000	0.05969	1.516000	0.35856	2.478000	0.83669	0.561000	0.74099	GCG		0.682	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		18	91	0	0	0	0.007413	0	18	91				
ANO2	57101	broad.mit.edu	37	12	5853387	5853387	+	Silent	SNP	C	C	A	rs200519106		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:5853387C>A	ENST00000356134.5	-	13	1349	c.1278G>T	c.(1276-1278)gcG>gcT	p.A426A	ANO2_ENST00000327087.8_Silent_p.A425A|ANO2_ENST00000546188.1_Silent_p.A426A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	430					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGGCCTGCGCGGTCCCAC	0.557																																							uc001qnm.2		NA																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1273-1275)GCG>GCT		anoctamin 2							95.0	105.0	102.0					12																	5853387		2120	4231	6351	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853387C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1278G>T	12.37:g.5853387C>A							p.A425A	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			12	1347	-			430			Extracellular (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1275G>T																																																																																					0.557	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		12	85	1	0	2.80697e-09	0.000978	3.29422e-09	12	85				
VWF	7450	broad.mit.edu	37	12	6145658	6145658	+	Splice_Site	SNP	C	C	A	rs61748480		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:6145658C>A	ENST00000261405.5	-	19	2697		c.e19-1			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGCCGGACCTAAGAGAAAA	0.537																																							uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.e19-1		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						70.0	61.0	64.0					12																	6145658		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6145658C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2443-1G>T	12.37:g.6145658C>A						VWF_uc010set.1_Intron	p.V815_splice	NM_000552	NP_000543	P04275	VWF_HUMAN			19	2693	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.2443_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333131	0.60853	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7836	0.78286	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	6015919	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	6.446000	0.73460	2.577000	0.86979	0.655000	0.94253	.		0.537	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	7	62	1	0	2.7689e-08	0.001984	3.20121e-08	7	62				
CD163L1	283316	broad.mit.edu	37	12	7585029	7585029	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:7585029A>G	ENST00000313599.3	-	4	806	c.749T>C	c.(748-750)gTc>gCc	p.V250A	CD163L1_ENST00000416109.2_Missense_Mutation_p.V260A|CD163L1_ENST00000396630.1_Missense_Mutation_p.V250A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	250	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGTTAATGTGACATCCTCATT	0.393																																							uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(748-750)GTC>GCC		scavenger receptor cysteine-rich type 1							110.0	101.0	104.0					12																	7585029		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7585029A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.749T>C	12.37:g.7585029A>G	ENSP00000315945:p.Val250Ala					CD163L1_uc010sge.1_Missense_Mutation_p.V260A	p.V250A	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			4	775	-			250			SRCR 2.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.749T>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.060339	0.00386	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.32272	1.46;1.46;1.46	2.08	-1.18	0.09617	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.10981	0.0268	N	0.05487	-0.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35201	-0.9798	9	0.02654	T	1	.	6.3296	0.21262	0.608:0.0:0.392:0.0	.	260;250	E7EVK4;Q9NR16	.;C163B_HUMAN	A	250;260;250	ENSP00000315945:V250A;ENSP00000393474:V260A;ENSP00000379871:V250A	ENSP00000315945:V250A	V	-	2	0	CD163L1	7476296	0.944000	0.32072	0.000000	0.03702	0.002000	0.02628	1.463000	0.35277	-0.339000	0.08401	-0.371000	0.07208	GTC		0.393	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		11	57	0	0	0	0.008291	0	11	57				
CD163	9332	broad.mit.edu	37	12	7640238	7640238	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:7640238C>A	ENST00000359156.4	-	8	1969	c.1767G>T	c.(1765-1767)aaG>aaT	p.K589N	CD163_ENST00000432237.2_Missense_Mutation_p.K589N|CD163_ENST00000541972.1_Missense_Mutation_p.K577N|CD163_ENST00000396620.3_Missense_Mutation_p.K622N|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	589	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACACGGGGTCTTGCCATTCA	0.512																																							uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1765-1767)AAG>AAT		CD163 antigen isoform a							75.0	75.0	75.0					12																	7640238		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640238C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1767G>T	12.37:g.7640238C>A	ENSP00000352071:p.Lys589Asn					CD163_uc001qta.3_Missense_Mutation_p.K589N|CD163_uc009zfw.2_Missense_Mutation_p.K622N	p.K589N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	1895	-			589			SRCR 6.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1767G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	8.316	0.823282	0.16678	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.21	2.05	0.26809	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.486124	0.22127	N	0.064258	T	0.13713	0.0332	N	0.04768	-0.165	0.09310	N	1	B;B;B	0.19817	0.011;0.007;0.039	B;B;B	0.20955	0.023;0.007;0.032	T	0.12915	-1.0529	10	0.23891	T	0.37	.	2.4345	0.04479	0.2957:0.4026:0.207:0.0946	.	622;589;589	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	N	589;577;622;589	ENSP00000352071:K589N;ENSP00000444071:K577N;ENSP00000379863:K622N;ENSP00000403885:K589N	ENSP00000352071:K589N	K	-	3	2	CD163	7531505	0.000000	0.05858	0.643000	0.29450	0.862000	0.49288	-0.766000	0.04725	0.685000	0.31468	0.655000	0.94253	AAG		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	122	1	0	6.40141e-05	0.000978	6.87682e-05	11	122				
FAM90A1	55138	broad.mit.edu	37	12	8377398	8377398	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:8377398C>A	ENST00000538603.1	-	4	589	c.31G>T	c.(31-33)Gca>Tca	p.A11S	FAM90A1_ENST00000307435.6_Missense_Mutation_p.A11S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	11							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGTCTCTTTGCCCCAGGTTTG	0.587																																							uc001qui.2		NA																	0				ovary(1)	1						c.(31-33)GCA>TCA		hypothetical protein LOC55138							44.0	49.0	47.0					12																	8377398		2203	4297	6500	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8377398C>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.31G>T	12.37:g.8377398C>A	ENSP00000445418:p.Ala11Ser					FAM90A1_uc001quh.2_Missense_Mutation_p.A11S	p.A11S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	4	590	-			11					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.31G>T	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	9.083	0.999775	0.19121	.	.	ENSG00000171847	ENST00000307435;ENST00000538603;ENST00000442295	T;T	0.20332	2.08;2.08	0.408	0.408	0.16377	.	.	.	.	.	T	0.28962	0.0719	L	0.42245	1.32	0.09310	N	1	D	0.67145	0.996	P	0.60473	0.875	T	0.13469	-1.0508	8	0.38643	T	0.18	-0.0593	.	.	.	.	11	Q86YD7	F90A1_HUMAN	S	11	ENSP00000307798:A11S;ENSP00000445418:A11S	ENSP00000307798:A11S	A	-	1	0	FAM90A1	8268665	0.018000	0.18449	0.003000	0.11579	0.012000	0.07955	0.250000	0.18235	0.460000	0.27045	0.196000	0.17591	GCA		0.587	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		5	38	1	0	3.59834e-05	0.001168	3.88908e-05	5	38				
YBX3	8531	broad.mit.edu	37	12	10856658	10856658	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:10856658C>T	ENST00000228251.4	-	7	1070	c.870G>A	c.(868-870)agG>agA	p.R290R	YBX3_ENST00000546164.1_Splice_Site|YBX3_ENST00000279550.7_Silent_p.R221R	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	290					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										ACCTACGGTACCTTGGGCGGT	0.488																																							uc001qyt.2		NA																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(868-870)AGG>AGA		cold shock domain protein A isoform a							167.0	143.0	151.0					12																	10856658		2203	4300	6503	SO:0001819	synonymous_variant	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10856658C>T	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.870G>A	12.37:g.10856658C>T						CSDA_uc001qyu.2_Silent_p.R221R	p.R290R	NM_003651	NP_003642	P16989	DBPA_HUMAN			7	1113	-	Glioma(1;0.155)		290					B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	c.870G>A	CCDS8630.1																																																																																				0.488	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		16	70	0	0	0	0.003163	0	16	70				
LRP6	4040	broad.mit.edu	37	12	12315178	12315178	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:12315178A>G	ENST00000261349.4	-	10	2304	c.2228T>C	c.(2227-2229)gTg>gCg	p.V743A	LRP6_ENST00000543091.1_Missense_Mutation_p.V743A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	743	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTTTCCACACCAAAACTTG	0.498																																							uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2227-2229)GTG>GCG		low density lipoprotein receptor-related protein							187.0	161.0	170.0					12																	12315178		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12315178A>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2228T>C	12.37:g.12315178A>G	ENSP00000261349:p.Val743Ala					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V743A	p.V743A	NM_002336	NP_002327	O75581	LRP6_HUMAN			10	2370	-		Prostate(47;0.0865)	743			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 12.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2228T>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077637	0.94000	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96011	-3.88;-3.88	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.53938	D	0.000042	D	0.96920	0.8994	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.992	D	0.96427	0.9316	10	0.36615	T	0.2	.	16.1461	0.81569	1.0:0.0:0.0:0.0	.	743;743	F5H7J9;O75581	.;LRP6_HUMAN	A	743	ENSP00000261349:V743A;ENSP00000442472:V743A	ENSP00000261349:V743A	V	-	2	0	LRP6	12206445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.518000	0.81795	2.219000	0.72066	0.533000	0.62120	GTG		0.498	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			9	136	0	0	0	0.008291	0	9	136				
KIAA1467	57613	broad.mit.edu	37	12	13208754	13208754	+	Missense_Mutation	SNP	C	C	T	rs372588047		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:13208754C>T	ENST00000197268.8	+	2	427	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	103						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTCATATGTGCGCACGTCTGT	0.582																																							uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(307-309)CGC>TGC		hypothetical protein LOC57613			CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	88.0	93.0		307	5.3	1.0	12		93	0,8600		0,0,4300	no	missense	KIAA1467	NM_020853.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	103/623	13208754	1,13005	2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208754C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.307C>T	12.37:g.13208754C>T	ENSP00000197268:p.Arg103Cys					KIAA1467_uc009zhx.1_RNA	p.R103C	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	330	+		Prostate(47;0.184)	103					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.307C>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.298912	0.81025	2.27E-4	0.0	ENSG00000084444	ENST00000197268	T	0.30182	1.54	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60855	-0.7180	10	0.87932	D	0	-8.4903	13.9722	0.64247	0.1515:0.8485:0.0:0.0	.	103	A2RU67	K1467_HUMAN	C	103	ENSP00000197268:R103C	ENSP00000197268:R103C	R	+	1	0	KIAA1467	13100021	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.105000	0.57797	2.495000	0.84180	0.598000	0.82781	CGC		0.582	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		26	85	0	0	0	0.005443	0	26	85				
ATF7IP	55729	broad.mit.edu	37	12	14599920	14599920	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:14599920A>G	ENST00000540793.1	+	5	2084		c.e5-1		ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000541654.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTTTTTTTCAGGCCAAGATA	0.269																																							uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.e6-2		activating transcription factor 7 interacting							37.0	43.0	41.0					12																	14599920		2199	4293	6492	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599920A>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1930-1A>G	12.37:g.14599920A>G						ATF7IP_uc010shs.1_Splice_Site_p.A643_splice|ATF7IP_uc001rbu.2_Splice_Site_p.A644_splice|ATF7IP_uc001rbv.1_Splice_Site_p.A643_splice|ATF7IP_uc001rbx.2_Splice_Site_p.A643_splice|ATF7IP_uc010sht.1_Splice_Site_p.A644_splice|ATF7IP_uc001rby.3_Splice_Site_p.A644_splice|ATF7IP_uc001rca.2_Splice_Site_p.A644_splice	p.A644_splice	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			6	2088	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37	c.1930_splice	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341428	0.60963	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8555	0.78975	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14491187	1.000000	0.71417	0.859000	0.33776	0.746000	0.42486	6.094000	0.71431	2.225000	0.72522	0.460000	0.39030	.		0.269	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	4	21	0	0	0	0.009096	0	4	21				
GYS2	2998	broad.mit.edu	37	12	21715920	21715920	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:21715920A>T	ENST00000261195.2	-	7	1248	c.994T>A	c.(994-996)Tat>Aat	p.Y332N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	332					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAACTCATACCTCCCAGCA	0.378																																					Colon(149;9 1820 3690 10544 50424)	Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(994-996)TAT>AAT		glycogen synthase 2							117.0	116.0	116.0					12																	21715920		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21715920A>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.994T>A	12.37:g.21715920A>T	ENSP00000261195:p.Tyr332Asn						p.Y332N	NM_021957	NP_068776	P54840	GYS2_HUMAN			7	1249	-			332					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.994T>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489988	0.84962	.	.	ENSG00000111713	ENST00000261195	T	0.73258	-0.73	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89582	0.3821	10	0.87932	D	0	-15.8119	15.0736	0.72059	1.0:0.0:0.0:0.0	.	332	P54840	GYS2_HUMAN	N	332	ENSP00000261195:Y332N	ENSP00000261195:Y332N	Y	-	1	0	GYS2	21607187	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.093000	0.94163	2.142000	0.66516	0.533000	0.62120	TAT		0.378	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		52	119	0	0	0	0.00361	0	52	119				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	11	1	0	7.93312e-07	0.00245	8.86685e-07	14	11				
TMTC1	83857	broad.mit.edu	37	12	29689180	29689180	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29689180C>A	ENST00000539277.1	-	11	1805	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.D537Y|TMTC1_ENST00000256062.5_Missense_Mutation_p.D475Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.D645Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.D607Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	583						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAATATGCATCTGCAAACTCT	0.368																																							uc001rjb.2		NA																	0					0						c.(1423-1425)GAT>TAT		transmembrane and tetratricopeptide repeat							186.0	173.0	177.0					12																	29689180		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29689180C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1747G>T	12.37:g.29689180C>A	ENSP00000442046:p.Asp583Tyr					TMTC1_uc001riz.2_Missense_Mutation_p.D232Y|TMTC1_uc001rja.2_Missense_Mutation_p.D319Y|TMTC1_uc001rjc.1_Missense_Mutation_p.D537Y	p.D475Y	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			11	1897	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		583			TPR 4.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1423G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368282	0.82463	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.77358	-0.13;-0.13;0.6;-0.13;-1.09	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.054431	0.64402	D	0.000001	D	0.89044	0.6603	M	0.85945	2.785	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.991	D	0.89646	0.3866	9	.	.	.	-22.2797	16.4751	0.84130	0.0:1.0:0.0:0.0	.	537;583;645	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	Y	346;475;645;607;583;537	ENSP00000256062:D475Y;ENSP00000448112:D645Y;ENSP00000449043:D607Y;ENSP00000442046:D583Y;ENSP00000370622:D537Y	.	D	-	1	0	TMTC1	29580447	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.706000	0.68362	2.656000	0.90262	0.655000	0.94253	GAT		0.368	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		20	138	1	0	7.45023e-12	0.010504	9.07745e-12	20	138				
TMTC1	83857	broad.mit.edu	37	12	29709802	29709802	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29709802C>T	ENST00000539277.1	-	10	1722	c.1664G>A	c.(1663-1665)gGg>gAg	p.G555E	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.G509E|TMTC1_ENST00000256062.5_Missense_Mutation_p.G447E|TMTC1_ENST00000551659.1_Missense_Mutation_p.G617E|TMTC1_ENST00000552618.1_Missense_Mutation_p.G579E	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	555						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAGGAGATTCCCCAGATTGAA	0.483																																							uc001rjb.2		NA																	0					0						c.(1339-1341)GGG>GAG		transmembrane and tetratricopeptide repeat							191.0	163.0	173.0					12																	29709802		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29709802C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1664G>A	12.37:g.29709802C>T	ENSP00000442046:p.Gly555Glu					TMTC1_uc001riz.2_Missense_Mutation_p.G204E|TMTC1_uc001rja.2_Missense_Mutation_p.G291E|TMTC1_uc001rjc.1_Missense_Mutation_p.G509E	p.G447E	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			10	1814	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		555			TPR 3.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1340G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989258	0.93106	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	D;T;T;T;D	0.83755	-1.76;0.23;-0.24;0.23;-1.76	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79784	0.951;0.993;0.989	D	0.96014	0.9004	9	.	.	.	-24.7122	17.9347	0.89009	0.0:1.0:0.0:0.0	.	509;555;617	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	E	318;447;617;579;555;509	ENSP00000256062:G447E;ENSP00000448112:G617E;ENSP00000449043:G579E;ENSP00000442046:G555E;ENSP00000370622:G509E	.	G	-	2	0	TMTC1	29601069	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	5.333000	0.65917	2.576000	0.86940	0.655000	0.94253	GGG		0.483	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		13	51	0	0	0	0.001855	0	13	51				
TMTC1	83857	broad.mit.edu	37	12	29709899	29709899	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29709899G>A	ENST00000539277.1	-	10	1625	c.1567C>T	c.(1567-1569)Ctt>Ttt	p.L523F	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.L477F|TMTC1_ENST00000256062.5_Missense_Mutation_p.L415F|TMTC1_ENST00000551659.1_Missense_Mutation_p.L585F|TMTC1_ENST00000552618.1_Missense_Mutation_p.L547F	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	523						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTGTTCCAAGGTTGTTGAGC	0.458																																							uc001rjb.2		NA																	0					0						c.(1243-1245)CTT>TTT		transmembrane and tetratricopeptide repeat							193.0	166.0	175.0					12																	29709899		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29709899G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1567C>T	12.37:g.29709899G>A	ENSP00000442046:p.Leu523Phe					TMTC1_uc001riz.2_Missense_Mutation_p.L172F|TMTC1_uc001rja.2_Missense_Mutation_p.L259F|TMTC1_uc001rjc.1_Missense_Mutation_p.L477F	p.L415F	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			10	1717	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		523			TPR 2.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1243C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644429	0.87859	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68903	-0.36;-0.36;0.47;-0.36;-0.36	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	M	0.88181	2.935	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.992	D	0.86860	0.2029	9	.	.	.	-14.3587	17.9347	0.89009	0.0:0.0:1.0:0.0	.	477;523;585	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	F	286;415;585;547;523;477	ENSP00000256062:L415F;ENSP00000448112:L585F;ENSP00000449043:L547F;ENSP00000442046:L523F;ENSP00000370622:L477F	.	L	-	1	0	TMTC1	29601166	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	5.951000	0.70273	2.576000	0.86940	0.655000	0.94253	CTT		0.458	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		5	94	0	0	0	0.000602	0	5	94				
KIF21A	55605	broad.mit.edu	37	12	39695300	39695300	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:39695300T>A	ENST00000361418.5	-	37	4928	c.4913A>T	c.(4912-4914)cAc>cTc	p.H1638L	KIF21A_ENST00000395670.3_Missense_Mutation_p.H1639L|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1601L|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1625L|KIF21A_ENST00000541463.2_Missense_Mutation_p.H1585L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1638					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGTAAAAATGTGGGTGGAATT	0.353																																							uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4912-4914)CAC>CTC		kinesin family member 21A							103.0	107.0	106.0					12																	39695300		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39695300T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4913A>T	12.37:g.39695300T>A	ENSP00000354878:p.His1638Leu					KIF21A_uc001rlv.2_Missense_Mutation_p.H583L|KIF21A_uc001rlw.2_Missense_Mutation_p.H908L|KIF21A_uc001rlx.2_Missense_Mutation_p.H1625L|KIF21A_uc001rlz.2_Missense_Mutation_p.H1585L|KIF21A_uc010skl.1_Missense_Mutation_p.H1601L|KIF21A_uc001rlt.2_Missense_Mutation_p.H258L|KIF21A_uc001rlu.2_Missense_Mutation_p.H258L	p.H1638L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			37	5059	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1638			WD 7.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4913A>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.55|13.55	2.272145|2.272145	0.40194|0.40194	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.57273|.	0.41;0.41;0.41;0.41;0.41;0.41|.	4.71|4.71	4.71|4.71	0.59529|0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.140255|.	0.32901|.	N|.	0.005510|.	T|T	0.39091|0.39091	0.1065|0.1065	N|N	0.10782|0.10782	0.045|0.045	0.39477|0.39477	D|D	0.967815|0.967815	B;B;B;B;B;B|.	0.30281|.	0.0;0.275;0.002;0.0;0.001;0.0|.	B;B;B;B;B;B|.	0.28232|.	0.001;0.087;0.012;0.0;0.005;0.005|.	T|T	0.34428|0.34428	-0.9829|-0.9829	10|5	0.72032|.	D|.	0.01|.	.|.	14.344|14.344	0.66646|0.66646	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1601;1585;1638;1625;1591;625|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	L|S	1625;1639;1591;625;619;1601;1638;1585|939	ENSP00000354851:H1625L;ENSP00000379029:H1639L;ENSP00000448792:H619L;ENSP00000445606:H1601L;ENSP00000354878:H1638L;ENSP00000438075:H1585L|.	ENSP00000344501:H1591L|.	H|T	-|-	2|1	0|0	KIF21A|KIF21A	37981567|37981567	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.995000|0.995000	0.86356|0.86356	5.838000|5.838000	0.69388|0.69388	1.972000|1.972000	0.57404|0.57404	0.528000|0.528000	0.53228|0.53228	CAC|ACA		0.353	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		31	104	0	0	0	0.002445	0	31	104				
NELL2	4753	broad.mit.edu	37	12	45001014	45001014	+	Missense_Mutation	SNP	G	G	A	rs188047802		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:45001014G>A	ENST00000429094.2	-	15	2105	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V	NELL2_ENST00000333837.4_Missense_Mutation_p.A557V|NELL2_ENST00000551601.1_Missense_Mutation_p.A533V|NELL2_ENST00000549027.1_Missense_Mutation_p.A533V|NELL2_ENST00000437801.2_Missense_Mutation_p.A584V|NELL2_ENST00000395487.2_Missense_Mutation_p.A533V|NELL2_ENST00000452445.2_Missense_Mutation_p.A534V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	534	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAATACAGGCTCCTCCATT	0.383																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1600-1602)GCC>GTC		NEL-like protein 2 isoform b precursor							86.0	81.0	83.0					12																	45001014		2203	4299	6502	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45001014G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1601C>T	12.37:g.45001014G>A	ENSP00000390680:p.Ala534Val					NELL2_uc001rof.3_Missense_Mutation_p.A533V|NELL2_uc001roh.2_Missense_Mutation_p.A534V|NELL2_uc009zkd.2_Missense_Mutation_p.A533V|NELL2_uc010skz.1_Missense_Mutation_p.A584V|NELL2_uc010sla.1_Missense_Mutation_p.A557V|NELL2_uc001roi.1_Missense_Mutation_p.A534V|NELL2_uc010slb.1_Missense_Mutation_p.A533V	p.A534V	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2196	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	534			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1601C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471674	0.63737	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D;D	0.91464	-2.19;-2.19;-2.85;-2.19;-2.19;-2.4;-2.19	5.68	5.68	0.88126	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.162191	0.56097	D	0.000027	T	0.80396	0.4615	N	0.02357	-0.585	0.47949	D	0.999552	B;B;B;B;B	0.28713	0.22;0.129;0.082;0.049;0.077	B;B;B;B;B	0.28011	0.058;0.071;0.085;0.024;0.044	T	0.76796	-0.2827	10	0.32370	T	0.25	-19.6488	20.1467	0.98079	0.0:0.0:1.0:0.0	.	557;584;533;534;533	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	V	533;534;533;534;533;557;584;533	ENSP00000378866:A533V;ENSP00000390680:A534V;ENSP00000449332:A533V;ENSP00000394612:A534V;ENSP00000447927:A533V;ENSP00000327988:A557V;ENSP00000416341:A584V	ENSP00000327988:A557V	A	-	2	0	NELL2	43287281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.016000	0.64041	2.838000	0.97847	0.655000	0.94253	GCC		0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		9	43	0	0	0	0.008291	0	9	43				
PCED1B	91523	broad.mit.edu	37	12	47471225	47471225	+	5'Flank	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47471225A>G	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.S521P|AMIGO2_ENST00000429635.1_Missense_Mutation_p.S521P|AMIGO2_ENST00000550413.1_Missense_Mutation_p.S521P|AMIGO2_ENST00000321382.3_Missense_Mutation_p.S521P			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										AATTAAGTGGACGCCACAAAA	0.403																																							uc001rpm.2		NA																	0				ovary(1)|skin(1)	2						c.(1561-1563)TCC>CCC		adhesion molecule with Ig-like domain 2							56.0	55.0	55.0					12																	47471225		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471225A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471225A>G	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.S521P|AMIGO2_uc001rpl.2_Missense_Mutation_p.S521P	p.S521P	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	2216	-	Renal(347;0.138)|Lung SC(27;0.192)		521			Cytoplasmic (Potential).		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1561T>C	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	A	9.517	1.107198	0.20714	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.09	1.4	0.22301	.	0.442134	0.21464	N	0.074110	T	0.20820	0.0501	N	0.08118	0	0.24535	N	0.994094	B	0.02656	0.0	B	0.04013	0.001	T	0.08166	-1.0735	10	0.34782	T	0.22	-10.6126	2.5691	0.04790	0.6043:0.1374:0.1253:0.1329	.	521	Q86SJ2	AMGO2_HUMAN	P	521	ENSP00000266581:S521P;ENSP00000449034:S521P;ENSP00000406020:S521P;ENSP00000320848:S521P	ENSP00000266581:S521P	S	-	1	0	AMIGO2	45757492	0.941000	0.31946	0.356000	0.25785	0.971000	0.66376	2.101000	0.41787	0.418000	0.25898	0.459000	0.35465	TCC		0.403	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		5	37	0	0	0	0.001168	0	5	37				
PCED1B	91523	broad.mit.edu	37	12	47471601	47471601	+	5'Flank	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47471601T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Silent_p.A395A|AMIGO2_ENST00000429635.1_Silent_p.A395A|AMIGO2_ENST00000550413.1_Silent_p.A395A|AMIGO2_ENST00000321382.3_Silent_p.A395A			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										CTGTGTTAAATGCCTCATGAG	0.433																																							uc001rpm.2		NA																	0				ovary(1)|skin(1)	2						c.(1183-1185)GCA>GCG		adhesion molecule with Ig-like domain 2							138.0	133.0	135.0					12																	47471601		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471601T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471601T>C	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.A395A|AMIGO2_uc001rpl.2_Silent_p.A395A	p.A395A	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	1840	-	Renal(347;0.138)|Lung SC(27;0.192)		395			Extracellular (Potential).		Q96B20	Silent	SNP	ENST00000546455.1	37	c.1185A>G	CCDS8752.1																																																																																				0.433	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		15	53	0	0	0	0.00245	0	15	53				
PCED1B	91523	broad.mit.edu	37	12	47629134	47629134	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47629134C>G	ENST00000546455.1	+	4	1019	c.288C>G	c.(286-288)cgC>cgG	p.R96R	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.R96R			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	96							hydrolase activity (GO:0016787)										TCCTCACCCGCGTGTACTCCG	0.592																																							uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(286-288)CGC>CGG		hypothetical protein LOC91523							127.0	132.0	130.0					12																	47629134		2203	4300	6503	SO:0001819	synonymous_variant	91523						hydrolase activity	g.chr12:47629134C>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.288C>G	12.37:g.47629134C>G						FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Silent_p.R96R	p.R96R	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1019	+	Renal(347;0.138)|Lung SC(27;0.192)		96					Q96B20	Silent	SNP	ENST00000546455.1	37	c.288C>G	CCDS8752.1																																																																																				0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		25	144	0	0	0	0.00333	0	25	144				
PCED1B	91523	broad.mit.edu	37	12	47629138	47629138	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47629138T>A	ENST00000546455.1	+	4	1023	c.292T>A	c.(292-294)Tac>Aac	p.Y98N	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.Y98N			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	98							hydrolase activity (GO:0016787)										CACCCGCGTGTACTCCGATTA	0.587																																							uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(292-294)TAC>AAC		hypothetical protein LOC91523							126.0	133.0	131.0					12																	47629138		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629138T>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.292T>A	12.37:g.47629138T>A	ENSP00000446688:p.Tyr98Asn					FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Missense_Mutation_p.Y98N	p.Y98N	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1023	+	Renal(347;0.138)|Lung SC(27;0.192)		98					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.292T>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015267	0.75161	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.03	4.03	0.46877	Esterase, SGNH hydrolase-type (1);	0.086790	0.47852	D	0.000207	T	0.46132	0.1377	M	0.80847	2.515	0.48901	D	0.99972	D	0.76494	0.999	D	0.77004	0.989	T	0.50972	-0.8764	10	0.87932	D	0	-38.1549	11.5932	0.50957	0.0:0.0:0.0:1.0	.	98	Q96HM7	F113B_HUMAN	N	98	ENSP00000446688:Y98N;ENSP00000396040:Y98N;ENSP00000449680:Y98N;ENSP00000448000:Y98N	ENSP00000396040:Y98N	Y	+	1	0	FAM113B	45915405	1.000000	0.71417	0.930000	0.37139	0.695000	0.40330	6.542000	0.73869	2.050000	0.60909	0.533000	0.62120	TAC		0.587	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		25	150	0	0	0	0.003954	0	25	150				
H1FNT	341567	broad.mit.edu	37	12	48723269	48723269	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:48723269C>T	ENST00000335017.1	+	1	507	c.195C>T	c.(193-195)ctC>ctT	p.L65L		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	65					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGTTGGTGCTCCAGGCCATCT	0.622																																							uc001rrm.2		NA																	0				pancreas(1)	1						c.(193-195)CTC>CTT		H1 histone family, member N, testis-specific							46.0	48.0	47.0					12																	48723269		2203	4300	6503	SO:0001819	synonymous_variant	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723269C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.195C>T	12.37:g.48723269C>T							p.L65L	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	507	+			65					Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	c.195C>T	CCDS8762.1																																																																																				0.622	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		6	25	0	0	0	0.001168	0	6	25				
WNT10B	7480	broad.mit.edu	37	12	49364124	49364124	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:49364124T>G	ENST00000301061.4	-	3	433	c.85A>C	c.(85-87)Aat>Cat	p.N29H	WNT10B_ENST00000407467.1_Missense_Mutation_p.N29H|WNT10B_ENST00000403957.1_Missense_Mutation_p.N29H	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	29					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGAATCTCATTGCTTAGAGCC	0.637																																							uc001rss.2		NA																	0				skin(4)|lung(3)	7						c.(85-87)AAT>CAT		wingless-type MMTV integration site family,							38.0	44.0	42.0					12																	49364124		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49364124T>G	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.85A>C	12.37:g.49364124T>G	ENSP00000301061:p.Asn29His					WNT10B_uc001rst.2_Missense_Mutation_p.N29H	p.N29H	NM_003394	NP_003385	O00744	WN10B_HUMAN			3	431	-			29					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.85A>C	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912838	0.52439	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957;ENST00000413630;ENST00000420388	T;D;D;T;T	0.85339	-1.1;-1.97;-1.94;-1.19;-0.89	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	L	0.49126	1.545	0.52501	D	0.999954	P;B	0.43885	0.82;0.228	B;B	0.41174	0.349;0.099	T	0.74581	-0.3618	10	0.14656	T	0.56	.	9.6709	0.40013	0.0:0.0:0.1748:0.8252	.	29;29	Q4VAJ4;O00744	.;WN10B_HUMAN	H	29	ENSP00000301061:N29H;ENSP00000384691:N29H;ENSP00000385980:N29H;ENSP00000398473:N29H;ENSP00000404896:N29H	ENSP00000301061:N29H	N	-	1	0	WNT10B	47650391	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.693000	0.54735	1.966000	0.57179	0.528000	0.53228	AAT		0.637	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		12	46	0	0	0	0.000978	0	12	46				
RACGAP1	29127	broad.mit.edu	37	12	50386086	50386086	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:50386086T>C	ENST00000548961.1	-	1	55	c.50A>G	c.(49-51)cAt>cGt	p.H17R	RACGAP1_ENST00000551016.1_Missense_Mutation_p.H507R|RACGAP1_ENST00000427314.2_Missense_Mutation_p.H507R|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H507R|RACGAP1_ENST00000547905.1_Missense_Mutation_p.H507R|RACGAP1_ENST00000434422.1_Missense_Mutation_p.H507R|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H507R					Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GGGCACAGCATGGGCCACTAT	0.448																																							uc001rvt.2		NA																	0				kidney(1)	1						c.(1519-1521)CAT>CGT		Rac GTPase activating protein 1							125.0	114.0	118.0					12																	50386086		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50386086T>C		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.50A>G	12.37:g.50386086T>C	ENSP00000446889:p.His17Arg					RACGAP1_uc009zlm.1_Missense_Mutation_p.H507R|RACGAP1_uc001rvs.2_Missense_Mutation_p.H507R|RACGAP1_uc001rvu.2_Missense_Mutation_p.H507R	p.H507R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			16	1830	-			507			Rho-GAP.			Missense_Mutation	SNP	ENST00000548961.1	37	c.1520A>G		.	.	.	.	.	.	.	.	.	.	T	25.8	4.677367	0.88445	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.21734	1.99;2.22;2.22;2.22;2.22;2.22;2.22;2.22	6.06	6.06	0.98353	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24440	-1.0160	10	0.27785	T	0.31	-14.9524	16.6127	0.84892	0.0:0.0:0.0:1.0	.	507	Q9H0H5	RGAP1_HUMAN	R	17;507;507;507;507;507;507;243	ENSP00000446889:H17R;ENSP00000404190:H507R;ENSP00000309871:H507R;ENSP00000413241:H507R;ENSP00000404808:H507R;ENSP00000449374:H507R;ENSP00000449370:H507R;ENSP00000449565:H243R	ENSP00000309871:H507R	H	-	2	0	RACGAP1	48672353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.322000	0.78497	0.528000	0.53228	CAT		0.448	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	NM_013277		41	118	0	0	0	0.002852	0	41	118				
RACGAP1	29127	broad.mit.edu	37	12	50390984	50390984	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:50390984T>A	ENST00000427314.2	-	12	1106	c.883A>T	c.(883-885)Att>Ttt	p.I295F	RACGAP1_ENST00000551016.1_Missense_Mutation_p.I295F|RACGAP1_ENST00000312377.5_Missense_Mutation_p.I295F|RACGAP1_ENST00000547905.1_Missense_Mutation_p.I295F|RACGAP1_ENST00000434422.1_Missense_Mutation_p.I295F|RACGAP1_ENST00000454520.2_Missense_Mutation_p.I295F|RACGAP1_ENST00000547061.1_5'UTR	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCAGGTTTAATAACCTGGGAT	0.358																																							uc001rvt.2		NA																	0				kidney(1)	1						c.(883-885)ATT>TTT		Rac GTPase activating protein 1							52.0	49.0	50.0					12																	50390984		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50390984T>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.883A>T	12.37:g.50390984T>A	ENSP00000404190:p.Ile295Phe					RACGAP1_uc009zlm.1_Missense_Mutation_p.I295F|RACGAP1_uc001rvs.2_Missense_Mutation_p.I295F|RACGAP1_uc001rvu.2_Missense_Mutation_p.I295F	p.I295F	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			12	1193	-			295			Phorbol-ester/DAG-type.			Missense_Mutation	SNP	ENST00000427314.2	37	c.883A>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781208	0.90282	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000548320	D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-1.84	5.47	5.47	0.80525	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93354	0.6721	10	0.10636	T	0.68	-24.856	15.5617	0.76253	0.0:0.0:0.0:1.0	.	295	Q9H0H5	RGAP1_HUMAN	F	295;295;295;295;295;295;12	ENSP00000404190:I295F;ENSP00000309871:I295F;ENSP00000413241:I295F;ENSP00000404808:I295F;ENSP00000449374:I295F;ENSP00000449370:I295F;ENSP00000448507:I12F	ENSP00000309871:I295F	I	-	1	0	RACGAP1	48677251	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.566000	0.82347	2.093000	0.63338	0.459000	0.35465	ATT		0.358	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		11	54	0	0	0	0.001368	0	11	54				
TMPRSS12	283471	broad.mit.edu	37	12	51281099	51281099	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:51281099G>T	ENST00000398458.3	+	5	882	c.850G>T	c.(850-852)Gta>Tta	p.V284L	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AAGATTTTTTGTAATGGGAAT	0.403																																							uc001rwx.3		NA																	0					0						c.(850-852)GTA>TTA		transmembrane protease, serine 12 precursor							92.0	93.0	93.0					12																	51281099		1860	4094	5954	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51281099G>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.850G>T	12.37:g.51281099G>T	ENSP00000381476:p.Val284Leu					TMPRSS12_uc001rwy.2_3'UTR	p.V284L	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			5	897	+			284			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.850G>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	4.925	0.171895	0.09391	.	.	ENSG00000186452	ENST00000398458	D	0.86694	-2.16	5.27	0.98	0.19750	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.755590	0.11424	N	0.565480	T	0.66197	0.2765	N	0.04880	-0.145	0.27849	N	0.940821	B	0.09022	0.002	B	0.10450	0.005	T	0.55477	-0.8135	10	0.02654	T	1	-9.3851	5.2094	0.15308	0.2233:0.4102:0.3665:0.0	.	284	Q86WS5	TMPSC_HUMAN	L	284	ENSP00000381476:V284L	ENSP00000381476:V284L	V	+	1	0	TMPRSS12	49567366	0.989000	0.36119	0.970000	0.41538	0.709000	0.40893	0.686000	0.25392	0.169000	0.19679	-0.444000	0.05651	GTA		0.403	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		6	63	1	0	0.00116845	0.001168	0.00122973	6	63				
ITGA7	3679	broad.mit.edu	37	12	56078909	56078909	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:56078909G>T	ENST00000555728.1	-	26	3507	c.3479C>A	c.(3478-3480)cCc>cAc	p.P1160H	ITGA7_ENST00000347027.6_Missense_Mutation_p.P1110H|ITGA7_ENST00000452168.2_Missense_Mutation_p.P1023H|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_Missense_Mutation_p.P1120H|ITGA7_ENST00000257879.6_Missense_Mutation_p.P1116H|ITGA7_ENST00000257880.7_3'UTR			Q13683	ITA7_HUMAN	integrin, alpha 7	1160	3 X 4 AA repeats of D-X-H-P.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCCAGGATGGGGTGTGCATC	0.682																																							uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(3358-3360)CCC>CAC		integrin alpha 7 isoform 1 precursor							38.0	38.0	38.0					12																	56078909		2203	4299	6502	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078909G>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3479C>A	12.37:g.56078909G>T	ENSP00000452387:p.Pro1160His					ITGA7_uc001shg.2_Missense_Mutation_p.P1116H|ITGA7_uc010sps.1_Missense_Mutation_p.P1023H|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.P363H|ITGA7_uc009znx.2_Missense_Mutation_p.P997H	p.P1120H	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			25	3579	-			1160			1.|3 X 4 AA repeats of D-X-H-P.|Cytoplasmic (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3359C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.582380|3.582380	0.65992|0.65992	.|.	.|.	ENSG00000135424|ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728|ENST00000557555	T;T;T;T;T|.	0.72615|.	-0.66;-0.65;-0.58;-0.28;-0.67|.	4.76|4.76	3.86|3.86	0.44501|0.44501	.|.	0.484707|0.484707	0.14607|0.14607	U|U	0.309297|0.309297	T|T	0.36026|0.36026	0.0952|0.0952	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|6	0.87932|.	D|.	0|.	.|.	6.3845|6.3845	0.21554|0.21554	0.2052:0.0:0.7948:0.0|0.2052:0.0:0.7948:0.0	.|.	1023;1160;1120;1179|.	Q13683-13;Q13683;Q13683-3;Q4LE35|.	.;ITA7_HUMAN;.;.|.	H|T	1120;1116;1110;1023;1160|184	ENSP00000452120:P1120H;ENSP00000257879:P1116H;ENSP00000343009:P1110H;ENSP00000393844:P1023H;ENSP00000452387:P1160H|.	ENSP00000257879:P1116H|.	P|P	-|-	2|1	0|0	ITGA7|ITGA7	54365176|54365176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	1.826000|1.826000	0.39092|0.39092	2.181000|2.181000	0.69327|0.69327	0.555000|0.555000	0.69702|0.69702	CCC|CCA		0.682	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		8	29	1	0	2.74318e-10	0.006214	3.27811e-10	8	29				
LRP1	4035	broad.mit.edu	37	12	57599438	57599438	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:57599438G>A	ENST00000243077.3	+	75	12034	c.11568G>A	c.(11566-11568)acG>acA	p.T3856T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3856	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCATGAAGACGCACAACACCT	0.622																																							uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11566-11568)ACG>ACA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						60.0	59.0	59.0					12																	57599438		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599438G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11568G>A	12.37:g.57599438G>A							p.T3856T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	12034	+			3856			Extracellular (Potential).|EGF-like 15.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11568G>A	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		10	47	0	0	0	0.006214	0	10	47				
XRCC6BP1	91419	broad.mit.edu	37	12	58350476	58350476	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:58350476G>T	ENST00000300145.3	+	6	669	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	182					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTAGACTTGTGTGCGAGACAG	0.303																																							uc001sqp.2		NA																	0				ovary(1)	1						c.(544-546)GTG>TTG		XRCC6 binding protein 1							119.0	108.0	112.0					12																	58350476		1830	4078	5908	SO:0001583	missense	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58350476G>T	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.544G>T	12.37:g.58350476G>T	ENSP00000300145:p.Val182Leu						p.V182L	NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN			6	584	+			182					Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	c.544G>T	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357187	0.95854	.	.	ENSG00000166896	ENST00000300145	T	0.62232	0.04	5.61	5.61	0.85477	.	0.055169	0.64402	D	0.000001	D	0.83963	0.5368	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85907	0.1438	10	0.62326	D	0.03	.	20.0229	0.97509	0.0:0.0:1.0:0.0	.	182	Q9Y6H3	ATP23_HUMAN	L	182	ENSP00000300145:V182L	ENSP00000300145:V182L	V	+	1	0	XRCC6BP1	56636743	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.096000	0.94182	2.812000	0.96745	0.557000	0.71058	GTG		0.303	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		10	49	1	0	3.86212e-05	0.008291	4.16694e-05	10	49				
DPY19L2	283417	broad.mit.edu	37	12	63963125	63963125	+	Silent	SNP	G	G	T	rs2942672		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:63963125G>T	ENST00000324472.4	-	21	2188	c.2005C>A	c.(2005-2007)Cgg>Agg	p.R669R	DPY19L2_ENST00000413230.2_Silent_p.R116R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	669					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTTTTGTCCGAGCCCtttaa	0.254																																							uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2005-2007)CGG>AGG		dpy-19-like 2							37.0	42.0	41.0					12																	63963125		2194	4277	6471	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63963125G>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2005C>A	12.37:g.63963125G>T						DPY19L2_uc010sso.1_Silent_p.R116R	p.R669R	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	21	2186	-			669					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.2005C>A	CCDS31851.1																																																																																				0.254	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		17	61	1	0	1.15088e-07	0.004007	1.31589e-07	17	61				
CNOT2	4848	broad.mit.edu	37	12	70724089	70724089	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:70724089A>G	ENST00000418359.3	+	7	860	c.409A>G	c.(409-411)Agg>Ggg	p.R137G	CNOT2_ENST00000229195.3_Missense_Mutation_p.R137G|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	137					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)			TATGAATCCTAGGAATATGAT	0.403																																							uc001svv.2		NA																	0					0						c.(409-411)AGG>GGG		CCR4-NOT transcription complex, subunit 2							93.0	89.0	90.0					12																	70724089		2203	4300	6503	SO:0001583	missense	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.chr12:70724089A>G	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.409A>G	12.37:g.70724089A>G	ENSP00000412091:p.Arg137Gly					CNOT2_uc009zro.2_Missense_Mutation_p.R137G|CNOT2_uc009zrp.2_Missense_Mutation_p.R117G|CNOT2_uc009zrq.2_Missense_Mutation_p.R137G	p.R137G	NM_014515	NP_055330	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)		6	988	+	Renal(347;0.236)		137					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.409A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	9.974	1.226340	0.22542	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.47869	0.83;0.83;0.84;0.83	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.32530	0.975	0.58432	D	0.999997	D	0.55172	0.97	P	0.49332	0.607	T	0.23440	-1.0188	10	0.18710	T	0.47	-6.1172	15.9985	0.80270	1.0:0.0:0.0:0.0	.	137	Q9NZN8	CNOT2_HUMAN	G	137;137;137;117;128;137;137;52;137	ENSP00000229195:R137G;ENSP00000412091:R137G;ENSP00000449659:R128G;ENSP00000449260:R137G	ENSP00000229195:R137G	R	+	1	2	CNOT2	69010356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.009000	0.57110	2.233000	0.73108	0.455000	0.32223	AGG		0.403	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			15	85	0	0	0	0.004007	0	15	85				
PTPRB	5787	broad.mit.edu	37	12	70928297	70928297	+	Silent	SNP	C	C	T	rs531140911		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:70928297C>T	ENST00000261266.5	-	29	5714	c.5685G>A	c.(5683-5685)ccG>ccA	p.P1895P	PTPRB_ENST00000334414.6_Silent_p.P2113P|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Silent_p.P1805P|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.P2025P|PTPRB_ENST00000451516.2_Silent_p.P1805P|PTPRB_ENST00000538708.1_Silent_p.P1805P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1895	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCCCAGCACCCGGGCTTCTGT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		15630	0.0		0.0	False		,,,				2504	0.001						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(5683-5685)CCG>CCA		protein tyrosine phosphatase, receptor type, B							34.0	34.0	34.0					12																	70928297		1861	4105	5966	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928297C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5685G>A	12.37:g.70928297C>T						uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.P1805P|PTPRB_uc010stp.1_Silent_p.P1805P|PTPRB_uc001swc.3_Silent_p.P2113P|PTPRB_uc001swa.3_Silent_p.P2025P	p.P1895P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		29	5715	-	Renal(347;0.236)		1895			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5685G>A	CCDS44944.1																																																																																				0.527	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	26	0	0	0	0.009096	0	4	26				
PTPRB	5787	broad.mit.edu	37	12	70989879	70989879	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:70989879G>T	ENST00000261266.5	-	3	583	c.554C>A	c.(553-555)gCt>gAt	p.A185D	PTPRB_ENST00000334414.6_Missense_Mutation_p.A403D|PTPRB_ENST00000550857.1_Missense_Mutation_p.A185D|PTPRB_ENST00000550358.1_Missense_Mutation_p.A403D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.A402D|PTPRB_ENST00000451516.2_Missense_Mutation_p.A185D|PTPRB_ENST00000538708.1_Missense_Mutation_p.A185D	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	185	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGAAACAGCTGTGATGGC	0.343																																							uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(553-555)GCT>GAT		protein tyrosine phosphatase, receptor type, B							59.0	57.0	58.0					12																	70989879		1840	4089	5929	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70989879G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.554C>A	12.37:g.70989879G>T	ENSP00000261266:p.Ala185Asp					PTPRB_uc010sto.1_Missense_Mutation_p.A185D|PTPRB_uc010stp.1_Missense_Mutation_p.A185D|PTPRB_uc001swc.3_Missense_Mutation_p.A403D|PTPRB_uc001swa.3_Missense_Mutation_p.A403D|PTPRB_uc001swd.3_Missense_Mutation_p.A402D|PTPRB_uc009zrr.1_Missense_Mutation_p.A282D|PTPRB_uc001swe.2_Missense_Mutation_p.A403D	p.A185D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	584	-	Renal(347;0.236)		185			Fibronectin type-III 2.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.554C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430960	0.83776	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.71581	2.175	0.30030	N	0.813552	D;D;D;D;P;P;P;D	0.67145	0.965;0.965;0.957;0.996;0.537;0.915;0.931;0.97	D;D;D;D;P;P;P;D	0.72625	0.92;0.92;0.949;0.978;0.642;0.836;0.898;0.913	T	0.79240	-0.1885	10	0.62326	D	0.03	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	185;185;282;403;402;403;185;403	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	D	403;185;403;403;185;185;185;402;282	ENSP00000334928:A403D;ENSP00000393028:A185D;ENSP00000448058:A403D;ENSP00000438927:A185D;ENSP00000447302:A185D;ENSP00000261266:A185D;ENSP00000448349:A402D;ENSP00000446982:A282D	ENSP00000261266:A185D	A	-	2	0	PTPRB	69276146	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.877000	0.75562	2.744000	0.94065	0.655000	0.94253	GCT		0.343	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			12	29	1	0	5.16669e-11	0.000978	6.24015e-11	12	29				
TBC1D15	64786	broad.mit.edu	37	12	72290489	72290489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:72290489G>A	ENST00000550746.1	+	10	1132	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.W347*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.W110*|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.W339*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	356	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAAGCATGGAAATTTCTTC	0.343																																							uc001swu.2		NA																	0					0						c.(1132-1134)TGG>TGA		TBC1 domain family, member 15 isoform 1							91.0	95.0	94.0					12																	72290489		2203	4300	6503	SO:0001587	stop_gained	64786						protein binding|Rab GTPase activator activity	g.chr12:72290489G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1068G>A	12.37:g.72290489G>A	ENSP00000448182:p.Trp356*					TBC1D15_uc009zrv.2_Nonsense_Mutation_p.W240*|TBC1D15_uc010stt.1_Nonsense_Mutation_p.W347*|TBC1D15_uc001swv.2_Nonsense_Mutation_p.W361*|TBC1D15_uc001sww.2_Nonsense_Mutation_p.W110*	p.W378*	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			10	1143	+			356			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Nonsense_Mutation	SNP	ENST00000550746.1	37	c.1134G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	41	8.570899	0.98868	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5705	20.1991	0.98252	0.0:0.0:1.0:0.0	.	.	.	.	X	356;240;347;339;110	.	ENSP00000318262:W347X	W	+	3	0	TBC1D15	70576756	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.960000	0.87893	2.775000	0.95449	0.650000	0.86243	TGG		0.343	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		8	47	0	0	0	0.006214	0	8	47				
KCNC2	3747	broad.mit.edu	37	12	75601215	75601215	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:75601215C>T	ENST00000549446.1	-	2	1229	c.549G>A	c.(547-549)gaG>gaA	p.E183E	KCNC2_ENST00000350228.2_Silent_p.E183E|KCNC2_ENST00000548513.1_Silent_p.E183E|KCNC2_ENST00000540018.1_Silent_p.E183E|KCNC2_ENST00000298972.1_Silent_p.E183E|KCNC2_ENST00000393288.2_Silent_p.E183E|KCNC2_ENST00000550433.1_Silent_p.E183E|KCNC2_ENST00000341669.3_Silent_p.E183E	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	183					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCGCCAGGTCCTCGTCGTCGC	0.726																																							uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(547-549)GAG>GAA		Shaw-related voltage-gated potassium channel							13.0	14.0	14.0					12																	75601215		2197	4294	6491	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601215C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.549G>A	12.37:g.75601215C>T						KCNC2_uc009zry.2_Silent_p.E183E|KCNC2_uc001sxe.2_Silent_p.E183E|KCNC2_uc001sxf.2_Silent_p.E183E|KCNC2_uc010stw.1_Silent_p.E183E	p.E183E	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	1093	-			183			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.549G>A	CCDS9007.1																																																																																				0.726	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		3	17	0	0	0	0.004672	0	3	17				
PPFIA2	8499	broad.mit.edu	37	12	81762565	81762565	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:81762565G>T	ENST00000549396.1	-	13	1581	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	PPFIA2_ENST00000552948.1_Missense_Mutation_p.T474N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T375N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T474N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T456N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T456N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T400N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T474N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T321N|PPFIA2_ENST00000541017.1_De_novo_Start_OutOfFrame|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T41N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	474	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTGGATTCAGTCAGAAGTCT	0.353																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1420-1422)ACT>AAT		PTPRF interacting protein alpha 2							269.0	256.0	260.0					12																	81762565		1848	4101	5949	SO:0001583	missense	8499							g.chr12:81762565G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1421C>A	12.37:g.81762565G>T	ENSP00000450337:p.Thr474Asn					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.T474N	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			13	1582	-			400					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1421C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262163	0.39995	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.43294	2.27;2.27;1.95;1.94;2.27;2.27;1.94;2.27;0.95	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.50333	1.59	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23154	-1.0196	10	0.48119	T	0.1	-17.1915	19.4993	0.95086	0.0:0.0:1.0:0.0	.	474	O75334	LIPA2_HUMAN	N	474;456;41;400;485;456;474;375;474;55;41	ENSP00000450337:T474N;ENSP00000450298:T456N;ENSP00000438337:T41N;ENSP00000385093:T400N;ENSP00000327416:T456N;ENSP00000449338:T474N;ENSP00000388373:T375N;ENSP00000447868:T474N;ENSP00000448941:T55N	ENSP00000327416:T456N	T	-	2	0	PPFIA2	80286696	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.680000	0.74518	2.687000	0.91594	0.563000	0.77884	ACT		0.353	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			27	92	1	0	4.7796e-09	0.004656	5.59344e-09	27	92				
LRRIQ1	84125	broad.mit.edu	37	12	85446027	85446027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:85446027G>T	ENST00000393217.2	+	7	812	c.751G>T	c.(751-753)Gag>Tag	p.E251*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	251	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAAACAGCATGAGGTATCTAT	0.274																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(751-753)GAG>TAG		leucine-rich repeats and IQ motif containing 1							68.0	79.0	75.0					12																	85446027		2183	4265	6448	SO:0001587	stop_gained	84125							g.chr12:85446027G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.751G>T	12.37:g.85446027G>T	ENSP00000376910:p.Glu251*					LRRIQ1_uc001tab.1_Nonsense_Mutation_p.E251*|LRRIQ1_uc001taa.1_Intron	p.E251*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	7	862	+			251			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.751G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105841	0.77096	.	.	ENSG00000133640	ENST00000256007;ENST00000393217	.	.	.	5.41	4.51	0.55191	.	0.191836	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.4922	0.55907	0.0:0.1683:0.8317:0.0	.	.	.	.	X	251	.	ENSP00000256007:E251X	E	+	1	0	LRRIQ1	83970158	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	1.568000	0.36418	1.407000	0.46875	0.484000	0.47621	GAG		0.274	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		14	52	1	0	1.5739e-10	0.004007	1.88807e-10	14	52				
CCER1	196477	broad.mit.edu	37	12	91347651	91347651	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:91347651T>G	ENST00000358859.2	-	1	1302	c.869A>C	c.(868-870)tAt>tCt	p.Y290S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	290	Glu-rich.																ctcctggtcatactcctcctc	0.527																																							uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(868-870)TAT>TCT		hypothetical protein LOC196477							221.0	210.0	214.0					12																	91347651		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347651T>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.869A>C	12.37:g.91347651T>G	ENSP00000351727:p.Tyr290Ser						p.Y290S	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1303	-			290			Potential.|Glu-rich.		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.869A>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	4.958	0.177942	0.09443	.	.	ENSG00000197651	ENST00000358859	T	0.20738	2.05	5.08	-2.87	0.05700	.	0.829740	0.09900	N	0.741180	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.27732	0.187	B	0.26416	0.069	T	0.39921	-0.9590	10	0.18710	T	0.47	0.5917	6.0995	0.20039	0.0:0.2507:0.1491:0.6002	.	290	Q8TC90	CL012_HUMAN	S	290	ENSP00000351727:Y290S	ENSP00000351727:Y290S	Y	-	2	0	C12orf12	89871782	0.000000	0.05858	0.012000	0.15200	0.027000	0.11550	-0.615000	0.05597	-0.397000	0.07691	-0.644000	0.03951	TAT		0.527	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		47	161	0	0	0	0.003214	0	47	161				
CFAP54	144535	broad.mit.edu	37	12	97084914	97084914	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:97084914T>C	ENST00000524981.4	+	44	6113	c.6090T>C	c.(6088-6090)ctT>ctC	p.L2030L				Q96N23	CL055_HUMAN		0																	AGGGTTTGCTTAGAACAACAC	0.333																																							uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(1363-1365)CTT>CTC		hypothetical protein LOC374467							108.0	103.0	105.0					12																	97084914		2203	4300	6503	SO:0001819	synonymous_variant	374467							g.chr12:97084914T>C																												ENST00000524981.4:c.6090T>C	12.37:g.97084914T>C							p.L455L	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			11	1443	+			455						Silent	SNP	ENST00000524981.4	37	c.1365T>C																																																																																					0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			6	41	0	0	0	0.001984	0	6	41				
SLC5A8	160728	broad.mit.edu	37	12	101603383	101603383	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:101603383C>T	ENST00000536262.2	-	1	802	c.244G>A	c.(244-246)Ggg>Agg	p.G82R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAATGGCCCCAAAACGGTAG	0.582																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(244-246)GGG>AGG		solute carrier family 5 (iodide transporter),							75.0	63.0	67.0					12																	101603383		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603383C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.244G>A	12.37:g.101603383C>T	ENSP00000445340:p.Gly82Arg						p.G82R	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	634	-			82			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.244G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342059	0.95783	.	.	ENSG00000256870	ENST00000536262	D	0.97906	-4.6	5.49	5.49	0.81192	.	0.093783	0.85682	D	0.000000	D	0.99275	0.9747	H	0.97365	3.99	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.98771	1.0728	10	0.87932	D	0	.	19.4145	0.94689	0.0:1.0:0.0:0.0	.	82	Q8N695	SC5A8_HUMAN	R	82	ENSP00000445340:G82R	ENSP00000445340:G82R	G	-	1	0	SLC5A8	100127514	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.600000	0.87896	0.485000	0.47835	GGG		0.582	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		7	30	0	0	0	0.001984	0	7	30				
GLT8D2	83468	broad.mit.edu	37	12	104397073	104397073	+	Missense_Mutation	SNP	C	C	T	rs140897214	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:104397073C>T	ENST00000360814.4	-	5	529	c.124G>A	c.(124-126)Gag>Aag	p.E42K	GLT8D2_ENST00000546436.1_Missense_Mutation_p.E42K|GLT8D2_ENST00000548660.1_Missense_Mutation_p.E42K	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	42						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCAGGAGTCTCGGATTCATCA	0.453													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17855	0.0		0.0	False		,,,				2504	0.0						uc001tkh.1		NA																	0				ovary(1)|skin(1)	2						c.(124-126)GAG>AAG		glycosyltransferase 8 domain containing 2		C	LYS/GLU	9,4397	14.3+/-33.2	0,9,2194	153.0	133.0	140.0		124	4.8	0.0	12	dbSNP_134	140	0,8600		0,0,4300	yes	missense	GLT8D2	NM_031302.3	56	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	benign	42/350	104397073	9,12997	2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104397073C>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.124G>A	12.37:g.104397073C>T	ENSP00000354053:p.Glu42Lys					GLT8D2_uc001tki.1_Missense_Mutation_p.E42K	p.E42K	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			5	530	-			42			Lumenal (Potential).		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.124G>A	CCDS9096.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.60	2.880248	0.51801	0.002043	0.0	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.29917	1.55;1.55;1.55	5.73	4.84	0.62591	.	0.475664	0.25068	N	0.033397	T	0.16811	0.0404	N	0.12746	0.255	0.53688	D	0.999974	B	0.24368	0.102	B	0.15052	0.012	T	0.05818	-1.0862	10	0.11485	T	0.65	.	14.2532	0.66033	0.0:0.9278:0.0:0.0722	.	42	Q9H1C3	GL8D2_HUMAN	K	42	ENSP00000354053:E42K;ENSP00000449750:E42K;ENSP00000447450:E42K	ENSP00000354053:E42K	E	-	1	0	GLT8D2	102921203	0.927000	0.31430	0.006000	0.13384	0.506000	0.33950	2.711000	0.47177	1.428000	0.47296	0.563000	0.77884	GAG		0.453	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		13	83	0	0	0	0.001855	0	13	83				
SELPLG	6404	broad.mit.edu	37	12	109017658	109017658	+	Silent	SNP	C	C	T	rs63748999|rs372173288	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:109017658C>T	ENST00000550948.1	-	2	650	c.426G>A	c.(424-426)caG>caA	p.Q142Q	SELPLG_ENST00000388962.3_Silent_p.Q132Q|SELPLG_ENST00000228463.6_Silent_p.Q158Q			Q14242	SELPL_HUMAN	selectin P ligand	142	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTGGAGTGGTCTGTGCCTCCG	0.612																																							uc001tni.2		NA																	0					0						c.(424-426)CAG>CAA		selectin P ligand							173.0	132.0	146.0					12																	109017658		2203	4300	6503	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017658C>T		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.426G>A	12.37:g.109017658C>T						SELPLG_uc001tnh.2_Silent_p.Q132Q|SELPLG_uc010sxe.1_Silent_p.Q158Q	p.Q142Q	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	586	-			142			3.|Extracellular (Potential).|12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.426G>A	CCDS31895.2																																																																																				0.612	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			14	85	0	0	0	0.006122	0	14	85				
UBE3B	89910	broad.mit.edu	37	12	109949024	109949024	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:109949024C>T	ENST00000342494.3	+	18	2467	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.S624S|UBE3B_ENST00000280774.5_Silent_p.S624S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	624					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCAAACCTAGCGTGCTCTTCC	0.483																																							uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(1870-1872)AGC>AGT		ubiquitin protein ligase E3B							150.0	122.0	132.0					12																	109949024		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109949024C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1872C>T	12.37:g.109949024C>T						UBE3B_uc001toq.2_Silent_p.S624S|UBE3B_uc001tos.2_Silent_p.S51S|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.S624S	p.S624S	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			18	2475	+			624					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.1872C>T	CCDS9129.1																																																																																				0.483	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		4	50	0	0	0	0.009096	0	4	50				
UBE3B	89910	broad.mit.edu	37	12	109972579	109972579	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:109972579C>G	ENST00000342494.3	+	28	3794	c.3199C>G	c.(3199-3201)Ctc>Gtc	p.L1067V	UBE3B_ENST00000434735.2_Missense_Mutation_p.L1067V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1067	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGCTTTGAACTCTCCTAGCT	0.607																																							uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(3199-3201)CTC>GTC		ubiquitin protein ligase E3B							88.0	78.0	81.0					12																	109972579		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972579C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3199C>G	12.37:g.109972579C>G	ENSP00000340596:p.Leu1067Val					UBE3B_uc001toq.2_Missense_Mutation_p.L1067V|UBE3B_uc001tos.2_Missense_Mutation_p.L494V|UBE3B_uc001tot.2_Missense_Mutation_p.L185V|UBE3B_uc010sxp.1_3'UTR	p.L1067V	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			28	3802	+			1067			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.3199C>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604452	0.66445	.	.	ENSG00000151148	ENST00000434735;ENST00000342494	T;T	0.64260	-0.09;-0.09	4.78	3.89	0.44902	HECT (3);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81887	-0.0726	10	0.87932	D	0	-22.8684	10.283	0.43552	0.0:0.8349:0.0:0.1651	.	1067	Q7Z3V4	UBE3B_HUMAN	V	1067	ENSP00000391529:L1067V;ENSP00000340596:L1067V	ENSP00000340596:L1067V	L	+	1	0	UBE3B	108456962	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.491000	0.60326	1.234000	0.43709	0.563000	0.77884	CTC		0.607	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		15	58	0	0	0	0.003163	0	15	58				
MMAB	326625	broad.mit.edu	37	12	110002929	110002929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:110002929G>A	ENST00000545712.2	-	4	736	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MMAB_ENST00000540016.1_Nonsense_Mutation_p.Q63*|RNU4-32P_ENST00000363404.1_RNA|MMAB_ENST00000266839.5_Nonsense_Mutation_p.Q24*	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	115					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACTTTCTGAAGCTCTTCG	0.468																																							uc001tou.2		NA																	0					0						c.(343-345)CAG>TAG		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						199.0	184.0	189.0					12																	110002929		2203	4300	6503	SO:0001587	stop_gained	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:110002929G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.343C>T	12.37:g.110002929G>A	ENSP00000445920:p.Gln115*					MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Nonsense_Mutation_p.Q24*|MMAB_uc001tox.2_Nonsense_Mutation_p.Q63*	p.Q115*	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			4	416	-			115					C5HU05|Q9BSH0	Nonsense_Mutation	SNP	ENST00000545712.2	37	c.343C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756437	0.89843	.	.	ENSG00000139428	ENST00000545712;ENST00000266839;ENST00000542390	.	.	.	4.32	-1.64	0.08318	.	0.268540	0.35739	N	0.003020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.3601	16.7633	0.85517	0.0:0.6439:0.3561:0.0	.	.	.	.	X	115;24;115	.	ENSP00000266839:Q24X	Q	-	1	0	MMAB	108487312	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.276000	0.43408	-0.092000	0.12417	0.555000	0.69702	CAG		0.468	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			41	153	0	0	0	0.002852	0	41	153				
TRPV4	59341	broad.mit.edu	37	12	110236656	110236656	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:110236656C>T	ENST00000418703.2	-	5	1009	c.915G>A	c.(913-915)acG>acA	p.T305T	TRPV4_ENST00000544971.1_Silent_p.T258T|TRPV4_ENST00000392719.2_Silent_p.T258T|TRPV4_ENST00000261740.2_Silent_p.T305T|TRPV4_ENST00000536838.1_Silent_p.T271T|TRPV4_ENST00000346520.2_Silent_p.T305T|TRPV4_ENST00000537083.1_Silent_p.T305T|TRPV4_ENST00000541794.1_Silent_p.T258T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	305					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGGGTTCTCCGTCAGGTAGT	0.647																																							uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(913-915)ACG>ACA		transient receptor potential cation channel,							71.0	66.0	68.0					12																	110236656		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236656C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.915G>A	12.37:g.110236656C>T						TRPV4_uc001tpg.1_Silent_p.T271T|TRPV4_uc001tph.1_Silent_p.T258T|TRPV4_uc001tpi.1_Silent_p.T258T|TRPV4_uc001tpk.1_Silent_p.T305T|TRPV4_uc001tpl.1_Silent_p.T305T	p.T305T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			5	1010	-			305			Cytoplasmic (Potential).|ANK 2.		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.915G>A	CCDS9134.1																																																																																				0.647	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		23	50	0	0	0	0.00278	0	23	50				
UNC119B	84747	broad.mit.edu	37	12	121154530	121154530	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:121154530C>T	ENST00000344651.4	+	3	498	c.458C>T	c.(457-459)aCa>aTa	p.T153I		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	153					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCCTCCGGACAGTCGGGGCT	0.542																																							uc001tyz.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(457-459)ACA>ATA		unc-119 homolog B							188.0	175.0	180.0					12																	121154530		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121154530C>T		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.458C>T	12.37:g.121154530C>T	ENSP00000344942:p.Thr153Ile						p.T153I	NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN			3	905	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		153						Missense_Mutation	SNP	ENST00000344651.4	37	c.458C>T	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178861	0.78564	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	5.82	0.92795	Immunoglobulin E-set (1);	0.046892	0.85682	D	0.000000	T	0.77412	0.4126	M	0.91354	3.2	0.58432	D	0.999999	P	0.44380	0.834	P	0.49421	0.61	T	0.81707	-0.0810	9	0.62326	D	0.03	-11.2509	14.8846	0.70557	0.1433:0.8567:0.0:0.0	.	153	A6NIH7	U119B_HUMAN	I	153	.	ENSP00000344942:T153I	T	+	2	0	UNC119B	119638913	1.000000	0.71417	0.953000	0.39169	0.959000	0.62525	4.769000	0.62300	2.752000	0.94435	0.655000	0.94253	ACA		0.542	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		28	138	0	0	0	0.004656	0	28	138				
KNTC1	9735	broad.mit.edu	37	12	123075220	123075220	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:123075220G>T	ENST00000333479.7	+	41	4243	c.4066G>T	c.(4066-4068)Gat>Tat	p.D1356Y	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1356					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACCTCAAAAAGATGTGTTTGA	0.393																																							uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4066-4068)GAT>TAT		Rough Deal homolog, centromere/kinetochore							192.0	180.0	184.0					12																	123075220		1853	4087	5940	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123075220G>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4066G>T	12.37:g.123075220G>T	ENSP00000328236:p.Asp1356Tyr					KNTC1_uc010taf.1_Intron	p.D1356Y	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	41	4229	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1356					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4066G>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260538	0.59431	.	.	ENSG00000184445	ENST00000333479	T	0.16457	2.34	5.6	4.71	0.59529	.	0.277274	0.41194	D	0.000922	T	0.15696	0.0378	L	0.40543	1.245	0.80722	D	1	P	0.40875	0.731	B	0.39419	0.299	T	0.01099	-1.1452	10	0.72032	D	0.01	-16.2129	11.2487	0.49013	0.1401:0.0:0.8599:0.0	.	1356	P50748	KNTC1_HUMAN	Y	1356	ENSP00000328236:D1356Y	ENSP00000328236:D1356Y	D	+	1	0	KNTC1	121641173	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.115000	0.71566	2.650000	0.89964	0.585000	0.79938	GAT		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			29	95	1	0	1.55811e-20	0.008361	2.00859e-20	29	95				
DDX55	57696	broad.mit.edu	37	12	124094491	124094491	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:124094491A>T	ENST00000238146.4	+	7	607	c.557A>T	c.(556-558)aAc>aTc	p.N186I	DDX55_ENST00000538744.1_Missense_Mutation_p.N186I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATCAGCATCAACACCATTCTG	0.488																																							uc001ufi.2		NA																	0				ovary(1)	1						c.(556-558)AAC>ATC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							76.0	72.0	74.0					12																	124094491		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124094491A>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.557A>T	12.37:g.124094491A>T	ENSP00000238146:p.Asn186Ile					DDX55_uc001ufh.2_Missense_Mutation_p.N39I|DDX55_uc001ufj.1_Missense_Mutation_p.N39I|DDX55_uc001ufk.2_Missense_Mutation_p.N39I	p.N186I	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	7	581	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		186			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.557A>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787129	0.90367	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.16743	2.32;2.32	5.98	5.98	0.97165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.48642	1.525	0.80722	D	1	P;D;D	0.89917	0.621;0.984;1.0	P;D;D	0.81914	0.566;0.921;0.995	T	0.05084	-1.0907	10	0.72032	D	0.01	-26.698	16.4566	0.84019	1.0:0.0:0.0:0.0	.	186;186;186	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	I	186	ENSP00000238146:N186I;ENSP00000443114:N186I	ENSP00000238146:N186I	N	+	2	0	DDX55	122660444	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.339000	0.96797	2.293000	0.77203	0.477000	0.44152	AAC		0.488	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			19	58	0	0	0	0.008871	0	19	58				
TMEM132B	114795	broad.mit.edu	37	12	125834534	125834534	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:125834534G>T	ENST00000299308.3	+	2	597	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	197						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTCAGCTCAGGCCTGGACCT	0.652																																							uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(589-591)GGC>TGC		transmembrane protein 132B							41.0	46.0	44.0					12																	125834534		1996	4189	6185	SO:0001583	missense	114795					integral to membrane		g.chr12:125834534G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.589G>T	12.37:g.125834534G>T	ENSP00000299308:p.Gly197Cys						p.G197C	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	597	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		197			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.589G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086706	0.55861	.	.	ENSG00000139364	ENST00000299308	T	0.48201	0.82	5.34	3.41	0.39046	.	.	.	.	.	T	0.55689	0.1936	L	0.49126	1.545	0.26604	N	0.972967	D	0.71674	0.998	P	0.58873	0.847	T	0.45293	-0.9271	9	0.62326	D	0.03	.	9.5304	0.39191	0.0796:0.1434:0.777:0.0	.	197	Q14DG7	T132B_HUMAN	C	197	ENSP00000299308:G197C	ENSP00000299308:G197C	G	+	1	0	TMEM132B	124400487	1.000000	0.71417	0.421000	0.26609	0.871000	0.50021	3.287000	0.51732	1.250000	0.43966	0.655000	0.94253	GGC		0.652	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		9	61	1	0	2.17888e-05	0.006214	2.36934e-05	9	61				
FZD10	11211	broad.mit.edu	37	12	130647987	130647987	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:130647987C>T	ENST00000229030.4	+	1	984	c.500C>T	c.(499-501)cCg>cTg	p.P167L	FZD10_ENST00000539839.1_Silent_p.A134A|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	167					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGTTCCCGCCGCTGTTCCGG	0.721																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(499-501)CCG>CTG		frizzled 10 precursor							16.0	22.0	20.0					12																	130647987		1947	3875	5822	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647987C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.500C>T	12.37:g.130647987C>T	ENSP00000229030:p.Pro167Leu					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.P167L	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	956	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		167			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.500C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510656	0.64522	.	.	ENSG00000111432	ENST00000229030	T	0.78003	-1.14	5.03	5.03	0.67393	.	0.074004	0.53938	U	0.000041	T	0.71230	0.3315	L	0.57536	1.79	0.80722	D	1	P	0.43607	0.812	B	0.31869	0.137	T	0.72626	-0.4236	10	0.26408	T	0.33	.	18.3422	0.90309	0.0:1.0:0.0:0.0	.	167	Q9ULW2	FZD10_HUMAN	L	167	ENSP00000229030:P167L	ENSP00000229030:P167L	P	+	2	0	FZD10	129213940	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.323000	0.79105	2.318000	0.78349	0.561000	0.74099	CCG		0.721	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	18	0	0	0	0.000978	0	10	18				
EP400	57634	broad.mit.edu	37	12	132466666	132466666	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:132466666G>A	ENST00000333577.4	+	6	1789	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	EP400_ENST00000330386.6_Silent_p.A524A|EP400_ENST00000389562.2_Silent_p.A523A|EP400_ENST00000332482.4_Silent_p.A487A|EP400_ENST00000389561.2_Silent_p.A524A			Q96L91	EP400_HUMAN	E1A binding protein p400	560					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCAGGCCGCGCAGCTCGCTG	0.607																																							uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(1570-1572)GCG>GCA		E1A binding protein p400							107.0	122.0	117.0					12																	132466666		2194	4277	6471	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466666G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1680G>A	12.37:g.132466666G>A						EP400_uc001ujl.2_Silent_p.A523A|EP400_uc001ujm.2_Silent_p.A524A|EP400_uc001ujj.1_Silent_p.A487A|EP400_uc001ujk.2_Silent_p.A560A	p.A524A	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	4	1607	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	560					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1572G>A																																																																																					0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	237	0	0	0	0.001855	0	14	237				
EP400	57634	broad.mit.edu	37	12	132546759	132546759	+	Silent	SNP	G	G	A	rs145021676		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:132546759G>A	ENST00000333577.4	+	47	8206	c.8097G>A	c.(8095-8097)acG>acA	p.T2699T	EP400_ENST00000330386.6_Silent_p.T2582T|EP400_ENST00000389562.2_Silent_p.T2662T|EP400_ENST00000332482.4_Silent_p.T2626T|EP400_ENST00000389561.2_Silent_p.T2663T			Q96L91	EP400_HUMAN	E1A binding protein p400	2699	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATGGCAACGACTCAGGGTG	0.687																																							uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(7987-7989)ACG>ACA		E1A binding protein p400		G		1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	51.0		7989	-9.6	0.1	12	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2663/3124	132546759	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132546759G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8097G>A	12.37:g.132546759G>A						EP400_uc001ujl.2_Silent_p.T2662T|EP400_uc001ujm.2_Silent_p.T2582T|EP400_uc001ujp.2_5'Flank	p.T2663T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	45	8024	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2699			Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.7989G>A																																																																																					0.687	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	52	0	0	0	0.007413	0	19	52				
PABPC3	5042	broad.mit.edu	37	13	25671457	25671457	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:25671457G>A	ENST00000281589.3	+	1	1158	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	374					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAAGAGCGCCAGGCTTAC	0.493																																							uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(1120-1122)CGC>CAC		poly(A) binding protein, cytoplasmic 3							154.0	139.0	144.0					13																	25671457		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671457G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1121G>A	13.37:g.25671457G>A	ENSP00000281589:p.Arg374His						p.R374H	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1182	+		Lung SC(185;0.0225)|Breast(139;0.0602)	374					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1121G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564069	0.45694	.	.	ENSG00000151846	ENST00000281589	T	0.06608	3.28	1.41	0.442	0.16582	.	0.134911	0.32287	N	0.006318	T	0.24470	0.0593	M	0.91300	3.195	0.48762	D	0.9997	D	0.89917	1.0	D	0.79784	0.993	T	0.00749	-1.1582	10	0.87932	D	0	.	5.5288	0.16972	0.2147:0.0:0.7853:0.0	.	374	Q9H361	PABP3_HUMAN	H	374	ENSP00000281589:R374H	ENSP00000281589:R374H	R	+	2	0	PABPC3	24569457	1.000000	0.71417	0.900000	0.35374	0.480000	0.33159	6.589000	0.74080	-0.094000	0.12374	0.313000	0.20887	CGC		0.493	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		5	71	0	0	0	0.000602	0	5	71				
TRPC4	7223	broad.mit.edu	37	13	38237797	38237797	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:38237797C>A	ENST00000379705.3	-	6	2301	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	TRPC4_ENST00000338947.5_Missense_Mutation_p.A309S|TRPC4_ENST00000358477.2_Missense_Mutation_p.A482S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.A309S|TRPC4_ENST00000379681.3_Missense_Mutation_p.A482S|TRPC4_ENST00000355779.2_Missense_Mutation_p.A482S|TRPC4_ENST00000379673.2_Missense_Mutation_p.A482S|TRPC4_ENST00000447043.1_Missense_Mutation_p.A482S|TRPC4_ENST00000494529.1_5'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	482					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCAATAGCAAATAAAGCC	0.453																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1444-1446)GCT>TCT		transient receptor potential cation channel,							64.0	64.0	64.0					13																	38237797		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237797C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1444G>T	13.37:g.38237797C>A	ENSP00000369027:p.Ala482Ser					TRPC4_uc010abv.2_Missense_Mutation_p.A62S|TRPC4_uc001uwt.2_Missense_Mutation_p.A482S|TRPC4_uc010tey.1_Missense_Mutation_p.A482S|TRPC4_uc010abw.2_Missense_Mutation_p.A309S|TRPC4_uc010abx.2_Missense_Mutation_p.A482S|TRPC4_uc010aby.2_Missense_Mutation_p.A482S	p.A482S	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1679	-			482			Helical; (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1444G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086446	0.76642	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	L	0.39692	1.235	0.80722	D	1	B;P;D;P;B;B	0.67145	0.421;0.627;0.996;0.763;0.28;0.254	B;B;D;B;B;B	0.77557	0.121;0.376;0.99;0.396;0.169;0.414	D	0.98543	1.0633	10	0.42905	T	0.14	-14.2251	20.054	0.97641	0.0:1.0:0.0:0.0	.	482;482;482;309;482;482	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	482;482;309;309;482;482;482;482	ENSP00000369027:A482S;ENSP00000369003:A482S;ENSP00000342580:A309S;ENSP00000369001:A309S;ENSP00000348025:A482S;ENSP00000351264:A482S;ENSP00000368995:A482S;ENSP00000414316:A482S	ENSP00000342580:A309S	A	-	1	0	TRPC4	37135797	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	6.002000	0.70693	2.808000	0.96608	0.655000	0.94253	GCT		0.453	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		6	31	1	0	8.12818e-05	0.001984	8.69429e-05	6	31				
KBTBD7	84078	broad.mit.edu	37	13	41767970	41767970	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:41767970G>C	ENST00000379483.3	-	1	732	c.424C>G	c.(424-426)Cag>Gag	p.Q142E		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	142										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TACAGGCGCTGCACATTGGCC	0.607																																							uc001uxw.1		NA																	0				ovary(1)	1						c.(424-426)CAG>GAG		kelch repeat and BTB (POZ) domain containing 7							121.0	98.0	106.0					13																	41767970		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767970G>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.424C>G	13.37:g.41767970G>C	ENSP00000368797:p.Gln142Glu					uc001uxv.1_Intron	p.Q142E	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	733	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	142					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.424C>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169260	0.21621	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66099	-0.19	4.79	4.79	0.61399	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	T	0.51753	0.1693	L	0.34521	1.04	0.53688	D	0.999976	B	0.06786	0.001	B	0.13407	0.009	T	0.45920	-0.9228	10	0.29301	T	0.29	.	15.6538	0.77118	0.0:0.0:1.0:0.0	.	142	Q8WVZ9	KBTB7_HUMAN	E	142;44	ENSP00000368797:Q142E	ENSP00000368797:Q142E	Q	-	1	0	KBTBD7	40665970	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.106000	0.57804	2.343000	0.79666	0.563000	0.77884	CAG		0.607	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		6	38	0	0	0	0.001984	0	6	38				
KBTBD7	84078	broad.mit.edu	37	13	41767974	41767974	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:41767974A>G	ENST00000379483.3	-	1	728	c.420T>C	c.(418-420)aaT>aaC	p.N140N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	140										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGCGCTGCACATTGGCCTCAC	0.602																																							uc001uxw.1		NA																	0				ovary(1)	1						c.(418-420)AAT>AAC		kelch repeat and BTB (POZ) domain containing 7							123.0	99.0	107.0					13																	41767974		2203	4300	6503	SO:0001819	synonymous_variant	84078						protein binding	g.chr13:41767974A>G	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.420T>C	13.37:g.41767974A>G						uc001uxv.1_Intron	p.N140N	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	729	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	140					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	37	c.420T>C	CCDS9377.1																																																																																				0.602	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		6	37	0	0	0	0.001984	0	6	37				
MTRF1	9617	broad.mit.edu	37	13	41814395	41814395	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:41814395A>G	ENST00000379480.4	-	6	971		c.e6+1		MTRF1_ENST00000379477.1_Splice_Site|MTRF1_ENST00000430347.2_Splice_Site	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1						regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCCTGAGGTTACCTCATCTGG	0.502																																							uc001uxx.2		NA																	0					0						c.e8+1		mitochondrial translational release factor 1							125.0	107.0	113.0					13																	41814395		2203	4300	6503	SO:0001630	splice_region_variant	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41814395A>G	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.870+1T>C	13.37:g.41814395A>G						MTRF1_uc001uxy.2_Splice_Site_p.E290_splice|MTRF1_uc001uxz.2_Splice_Site_p.E126_splice|MTRF1_uc010tff.1_Splice_Site_p.E303_splice|MTRF1_uc001uyc.1_Splice_Site_p.E290_splice	p.E290_splice	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	8	1340	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)						B4DG01|Q5T6Y5|Q8IUQ6	Splice_Site	SNP	ENST00000379480.4	37	c.870_splice	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900429	0.52227	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8659	0.79063	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTRF1	40712395	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	9.126000	0.94411	2.156000	0.67533	0.402000	0.26972	.		0.502	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294	Intron	23	79	0	0	0	0.00333	0	23	79				
AKAP11	11215	broad.mit.edu	37	13	42874407	42874407	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:42874407A>T	ENST00000025301.2	+	8	1700	c.1525A>T	c.(1525-1527)Act>Tct	p.T509S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	509					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACCCACCATACTAATACCCT	0.294																																							uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1525-1527)ACT>TCT		A-kinase anchor protein 11							66.0	68.0	68.0					13																	42874407		2203	4299	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874407A>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1525A>T	13.37:g.42874407A>T	ENSP00000025301:p.Thr509Ser						p.T509S	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	1700	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	509					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1525A>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.599767	0.00849	.	.	ENSG00000023516	ENST00000025301	T	0.48522	0.81	5.63	-8.33	0.00992	.	421.087000	0.01849	N	0.035811	T	0.29652	0.0740	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.16897	-1.0387	10	0.11485	T	0.65	.	2.437	0.04485	0.1649:0.3209:0.3378:0.1763	.	509	Q9UKA4	AKA11_HUMAN	S	509	ENSP00000025301:T509S	ENSP00000025301:T509S	T	+	1	0	AKAP11	41772407	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.610000	0.05629	-0.955000	0.03636	0.477000	0.44152	ACT		0.294	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		15	55	0	0	0	0.00499	0	15	55				
CDADC1	81602	broad.mit.edu	37	13	49823042	49823042	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:49823042A>G	ENST00000251108.6	+	2	231	c.118A>G	c.(118-120)Act>Gct	p.T40A	CDADC1_ENST00000444959.1_5'UTR|CDADC1_ENST00000496952.1_3'UTR|CDADC1_ENST00000538056.1_Missense_Mutation_p.T40A	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	40							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CAACCTTTTCACTCTGCTCAG	0.413																																							uc001vcu.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(118-120)ACT>GCT		cytidine and dCMP deaminase domain containing 1							147.0	164.0	158.0					13																	49823042		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49823042A>G	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.118A>G	13.37:g.49823042A>G	ENSP00000251108:p.Thr40Ala					CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_5'UTR|CDADC1_uc010tgk.1_5'UTR|CDADC1_uc001vcv.2_RNA	p.T40A	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	2	194	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	40					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.118A>G	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409444	0.83340	.	.	ENSG00000102543	ENST00000538056;ENST00000251108	.	.	.	5.97	5.97	0.96955	.	0.088386	0.85682	D	0.000000	T	0.65678	0.2714	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.68595	-0.5367	9	0.72032	D	0.01	-4.233	13.834	0.63398	1.0:0.0:0.0:0.0	.	40	Q9BWV3	CDAC1_HUMAN	A	40	.	ENSP00000251108:T40A	T	+	1	0	CDADC1	48721043	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.135000	0.71696	2.288000	0.76882	0.533000	0.62120	ACT		0.413	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		47	109	0	0	0	0.00361	0	47	109				
RNY4P30	100862673	broad.mit.edu	37	13	50466114	50466114	+	RNA	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:50466114G>T	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		CATGATAATTGTTTGGCAGCA	0.313																																							uc001vdk.2		NA																	0					0						c.(1387-1389)TGT>TTT		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50466114G>T			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50466114G>T							p.C463F	NR_003268						1	1570	+									Missense_Mutation	SNP	ENST00000410216.1	37	c.1388G>T																																																																																					0.313	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				5	22	1	0	1.23904e-05	0.000602	1.35089e-05	5	22				
CTAGE10P	220429	broad.mit.edu	37	13	50467031	50467031	+	IGR	SNP	T	T	C	rs571542875	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:50467031T>C								RNY4P30 (3167 upstream) : RNY4P9 (15738 downstream)																							ACCTGGATTTTCCCCCCCTAC	0.522													T|||	2	0.000399361	0.0008	0.0	5008	,	,		17723	0.0		0.0	False		,,,				2504	0.001						uc001vdk.2		NA																	0					0						c.(2305-2307)TCC>CCC		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																				SO:0001628	intergenic_variant	220429							g.chr13:50467031T>C																													13.37:g.50467031T>C							p.S769P	NR_003268						1	2487	+									Missense_Mutation	SNP		37	c.2305T>C																																																																																				0	0.522									15	62	0	0	0	0.007413	0	15	62				
ATP7B	540	broad.mit.edu	37	13	52511720	52511720	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:52511720C>A	ENST00000242839.4	-	18	3951	c.3795G>T	c.(3793-3795)gtG>gtT	p.V1265V	ATP7B_ENST00000344297.5_Silent_p.V1058V|ATP7B_ENST00000417240.2_Silent_p.V476V|ATP7B_ENST00000400370.3_Silent_p.V835V|ATP7B_ENST00000418097.2_Silent_p.V1200V|ATP7B_ENST00000448424.2_Silent_p.V1187V|ATP7B_ENST00000400366.3_Silent_p.V1154V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1265					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCCCATCCCCCACCATGGCGA	0.602									Wilson disease																														uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3793-3795)GTG>GTT		ATPase, Cu++ transporting, beta polypeptide							85.0	93.0	91.0					13																	52511720		2056	4182	6238	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52511720C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3795G>T	13.37:g.52511720C>A						ATP7B_uc010adv.2_Silent_p.V835V|ATP7B_uc001vfx.2_Silent_p.V1058V|ATP7B_uc001vfy.2_Silent_p.V1154V|ATP7B_uc010tgt.1_Silent_p.V1200V|ATP7B_uc010tgu.1_Silent_p.V1217V|ATP7B_uc010tgv.1_Silent_p.V1187V|ATP7B_uc001vfv.2_Silent_p.V537V|ATP7B_uc010tgs.1_Silent_p.V476V	p.V1265V	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	18	3952	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1265			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.3795G>T	CCDS41892.1																																																																																				0.602	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		17	74	1	0	1.67942e-08	0.006122	1.94706e-08	17	74				
KLHL1	57626	broad.mit.edu	37	13	70681664	70681664	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:70681664C>A	ENST00000377844.4	-	1	927	c.168G>T	c.(166-168)ctG>ctT	p.L56L	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	56	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGCTTTTGAGCAGGCGACTCT	0.627																																							uc001vip.2		NA																	0					0						c.(166-168)CTG>CTT		kelch-like 1 protein							62.0	72.0	69.0					13																	70681664		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681664C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.168G>T	13.37:g.70681664C>A						KLHL1_uc010thm.1_Silent_p.L56L|ATXN8OS_uc010aej.1_RNA	p.L56L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	962	-		Breast(118;0.000162)	56			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.168G>T	CCDS9445.1																																																																																				0.627	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		14	46	1	0	1.99824e-07	0.00499	2.28265e-07	14	46				
MYCBP2	23077	broad.mit.edu	37	13	77754433	77754433	+	Silent	SNP	C	C	A	rs61753811		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:77754433C>A	ENST00000544440.2	-	34	4865	c.4848G>T	c.(4846-4848)ggG>ggT	p.G1616G	MYCBP2_ENST00000357337.6_Silent_p.G1616G|MYCBP2_ENST00000407578.2_Silent_p.G1654G|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTTGTCATCCCTGAGATAT	0.408																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4846-4848)GGG>GGT		MYC binding protein 2							143.0	138.0	139.0					13																	77754433		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77754433C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4848G>T	13.37:g.77754433C>A						MYCBP2_uc010aev.2_Silent_p.G1020G	p.G1616G	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	35	4939	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1616						Silent	SNP	ENST00000544440.2	37	c.4848G>T																																																																																					0.408	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		19	84	1	0	1.22574e-08	0.002299	1.42506e-08	19	84				
MYCBP2	23077	broad.mit.edu	37	13	77847731	77847731	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:77847731A>G	ENST00000544440.2	-	5	724	c.707T>C	c.(706-708)tTa>tCa	p.L236S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L236S|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L274S|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAGTGCTGTTAAGGACTGTCC	0.448																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(706-708)TTA>TCA		MYC binding protein 2							136.0	125.0	129.0					13																	77847731		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77847731A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.707T>C	13.37:g.77847731A>G	ENSP00000444596:p.Leu236Ser					MYCBP2_uc010aev.2_5'UTR	p.L236S	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	6	798	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	236						Missense_Mutation	SNP	ENST00000544440.2	37	c.707T>C		.	.	.	.	.	.	.	.	.	.	A	18.17	3.565194	0.65651	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36699	1.25;1.24;1.25	5.52	5.52	0.82312	.	0.094608	0.47852	D	0.000218	T	0.40886	0.1135	L	0.58101	1.795	0.47659	D	0.99948	P	0.45348	0.856	B	0.42995	0.404	T	0.43180	-0.9407	10	0.87932	D	0	.	15.6201	0.76799	1.0:0.0:0.0:0.0	.	236	O75592	MYCB2_HUMAN	S	236;274;236	ENSP00000349892:L236S;ENSP00000384288:L274S;ENSP00000444596:L236S	ENSP00000349892:L236S	L	-	2	0	MYCBP2	76745732	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.335000	0.96500	2.084000	0.62774	0.477000	0.44152	TTA		0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		25	83	0	0	0	0.005443	0	25	83				
SLITRK1	114798	broad.mit.edu	37	13	84453836	84453836	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:84453836C>A	ENST00000377084.2	-	1	2692	c.1807G>T	c.(1807-1809)Ggg>Tgg	p.G603W		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	603					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGTGCGTCCCGGTCTCCGCC	0.582																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1807-1809)GGG>TGG		slit and trk like 1 protein precursor							102.0	88.0	92.0					13																	84453836		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453836C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1807G>T	13.37:g.84453836C>A	ENSP00000366288:p.Gly603Trp						p.G603W	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2693	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	603			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1807G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094713	0.56075	.	.	ENSG00000178235	ENST00000377084	T	0.60171	0.21	5.41	5.41	0.78517	.	0.110884	0.64402	D	0.000008	T	0.48466	0.1501	N	0.08118	0	0.54753	D	0.99998	P	0.48834	0.916	P	0.52881	0.712	T	0.55179	-0.8181	10	0.66056	D	0.02	-10.63	11.6084	0.51045	0.0:0.9176:0.0:0.0824	.	603	Q96PX8	SLIK1_HUMAN	W	603	ENSP00000366288:G603W	ENSP00000366288:G603W	G	-	1	0	SLITRK1	83351837	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.804000	0.55568	2.709000	0.92574	0.655000	0.94253	GGG		0.582	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		13	9	1	0	0.00244969	0.00245	0.00255871	13	9				
SLITRK1	114798	broad.mit.edu	37	13	84454373	84454373	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:84454373C>T	ENST00000377084.2	-	1	2155	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	424					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CACCTGAGGTCCAAAAGGTTC	0.468																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1270-1272)GAC>AAC		slit and trk like 1 protein precursor							199.0	192.0	194.0					13																	84454373		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454373C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1270G>A	13.37:g.84454373C>T	ENSP00000366288:p.Asp424Asn						p.D424N	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2156	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	424			LRR 9.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1270G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	3.061	-0.193175	0.06259	.	.	ENSG00000178235	ENST00000377084	T	0.43688	0.94	5.07	5.07	0.68467	.	0.050470	0.85682	D	0.000000	T	0.14313	0.0346	N	0.00683	-1.26	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.31447	-0.9943	10	0.02654	T	1	-18.7359	17.3701	0.87374	0.0:1.0:0.0:0.0	.	424	Q96PX8	SLIK1_HUMAN	N	424	ENSP00000366288:D424N	ENSP00000366288:D424N	D	-	1	0	SLITRK1	83352374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.062000	0.57492	2.522000	0.85027	0.655000	0.94253	GAC		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		45	157	0	0	0	0.003214	0	45	157				
SLITRK6	84189	broad.mit.edu	37	13	86368858	86368858	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:86368858T>C	ENST00000400286.2	-	2	2384	c.1786A>G	c.(1786-1788)Act>Gct	p.T596A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	596					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAAATAGTATCAGCCGTA	0.413																																							uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1786-1788)ACT>GCT		slit and trk like 6 precursor							152.0	150.0	150.0					13																	86368858		1999	4173	6172	SO:0001583	missense	84189					integral to membrane		g.chr13:86368858T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1786A>G	13.37:g.86368858T>C	ENSP00000383143:p.Thr596Ala					SLITRK6_uc010afe.1_Intron	p.T596A	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2245	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		596			Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1786A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	0.305	-0.971597	0.02215	.	.	ENSG00000184564	ENST00000400286	T	0.57107	0.42	5.65	4.47	0.54385	.	0.181446	0.25900	U	0.027571	T	0.29423	0.0733	N	0.08118	0	0.36599	D	0.874567	B	0.02656	0.0	B	0.04013	0.001	T	0.17440	-1.0369	10	0.16420	T	0.52	-0.1354	10.5645	0.45165	0.0:0.0764:0.0:0.9236	.	596	Q9H5Y7	SLIK6_HUMAN	A	596	ENSP00000383143:T596A	ENSP00000383143:T596A	T	-	1	0	SLITRK6	85266859	0.983000	0.35010	0.028000	0.17463	0.050000	0.14768	3.042000	0.49815	0.973000	0.38340	0.533000	0.62120	ACT		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		31	73	0	0	0	0.002096	0	31	73				
GPC6	10082	broad.mit.edu	37	13	94482464	94482464	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:94482464G>A	ENST00000377047.4	+	3	992	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATGTTTGTACGGACCTATGGC	0.403																																							uc001vlt.2		NA																	0					0						c.(376-378)CGG>CAG		glypican 6 precursor							70.0	69.0	69.0					13																	94482464		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482464G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.377G>A	13.37:g.94482464G>A	ENSP00000366246:p.Arg126Gln					GPC6_uc010tig.1_Missense_Mutation_p.R126Q|GPC6_uc001vlu.1_Missense_Mutation_p.R56Q	p.R126Q	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			3	1009	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	126					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.377G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136324	0.56936	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.50684	0.1630	M	0.88031	2.925	0.32491	N	0.540122	B;P	0.34909	0.334;0.475	B;B	0.31751	0.087;0.135	T	0.62416	-0.6859	10	0.26408	T	0.33	.	10.3082	0.43693	0.1464:0.0:0.8536:0.0	.	126;126	B4E2M1;Q9Y625	.;GPC6_HUMAN	Q	126	ENSP00000366246:R126Q	ENSP00000366246:R126Q	R	+	2	0	GPC6	93280465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.437000	0.73421	2.775000	0.95449	0.650000	0.86243	CGG		0.403	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		10	60	0	0	0	0.006214	0	10	60				
DCT	1638	broad.mit.edu	37	13	95121241	95121241	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498																																							uc001vlv.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(352-354)TGC>TGT		dopachrome tautomerase isoform 1							147.0	153.0	151.0					13																	95121241		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121241G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.354C>T	13.37:g.95121241G>A						DCT_uc010afh.2_Silent_p.C118C	p.C118C	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	781	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	118			Lumenal, melanosome (Potential).		Q09GT4	Silent	SNP	ENST00000377028.5	37	c.354C>T	CCDS9470.1																																																																																				0.498	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			41	176	0	0	0	0.002852	0	41	176				
IPO5	3843	broad.mit.edu	37	13	98641412	98641412	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:98641412T>A	ENST00000490680.1	+	4	526	c.461T>A	c.(460-462)aTt>aAt	p.I154N	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000261574.5_Missense_Mutation_p.I172N			O00410	IPO5_HUMAN	importin 5	154					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCCCTTCACATTTTCTGGTAT	0.373																																							uc001vnf.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(460-462)ATT>AAT		importin 5							59.0	60.0	60.0					13																	98641412		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641412T>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.461T>A	13.37:g.98641412T>A	ENSP00000418393:p.Ile154Asn					IPO5_uc001vne.2_Missense_Mutation_p.I172N|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.I94N	p.I154N	NM_002271	NP_002262	O00410	IPO5_HUMAN			4	526	+			154					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.461T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.859489|4.859489	0.91433|0.91433	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000475420;ENST00000490680;ENST00000389591;ENST00000403772;ENST00000473582	.|T;T;T;T;T;T	.|0.69561	.|-0.41;-0.41;-0.41;-0.41;-0.41;3.4	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.043359	.|0.85682	.|D	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.993;0.996	.|P;D	.|0.68621	.|0.873;0.959	D|D	0.84239|0.84239	0.0471|0.0471	5|10	.|0.87932	.|D	.|0	-5.6185|-5.6185	16.0023|16.0023	0.80306|0.80306	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|154;172	.|O00410;O00410-3	.|IPO5_HUMAN;.	I|N	156|172;154;154;154;127;125;135	.|ENSP00000261574:I172N;ENSP00000350219:I154N;ENSP00000420079:I154N;ENSP00000418393:I154N;ENSP00000385938:I125N;ENSP00000420491:I135N	.|ENSP00000261574:I172N	F|I	+|+	1|2	0|0	IPO5|IPO5	97439413|97439413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.759000|7.759000	0.85235|0.85235	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.373	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		13	20	0	0	0	0.001368	0	13	20				
SLC15A1	6564	broad.mit.edu	37	13	99368211	99368211	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:99368211A>G	ENST00000376503.5	-	9	699	c.644T>C	c.(643-645)gTg>gCg	p.V215A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	215					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGGACAAACACAACTAGATA	0.468																																							uc001vno.2		NA																	0				ovary(1)	1						c.(643-645)GTG>GCG		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						160.0	125.0	136.0					13																	99368211		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99368211A>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.644T>C	13.37:g.99368211A>G	ENSP00000365686:p.Val215Ala						p.V215A	NM_005073	NP_005064	P46059	S15A1_HUMAN			9	721	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		215			Helical; (Potential).		Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.644T>C	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179682	0.57800	.	.	ENSG00000088386	ENST00000376503	T	0.06849	3.25	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39165	-0.9627	10	0.87932	D	0	-25.9591	14.9061	0.70721	1.0:0.0:0.0:0.0	.	215	P46059	S15A1_HUMAN	A	215	ENSP00000365686:V215A	ENSP00000365686:V215A	V	-	2	0	SLC15A1	98166212	1.000000	0.71417	0.461000	0.27105	0.038000	0.13279	8.396000	0.90190	1.918000	0.55548	0.454000	0.30748	GTG		0.468	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		15	50	0	0	0	0.006122	0	15	50				
TM9SF2	9375	broad.mit.edu	37	13	100204544	100204544	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:100204544G>A	ENST00000376387.4	+	13	1642	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	484					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGTGCCTCTGACGTTTATTG	0.398																																							uc001voj.1		NA																	0				ovary(1)	1						c.(1450-1452)CTG>CTA		transmembrane 9 superfamily member 2 precursor							210.0	192.0	199.0					13																	100204544		2203	4300	6503	SO:0001819	synonymous_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100204544G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1452G>A	13.37:g.100204544G>A						TM9SF2_uc010afz.1_Silent_p.L319L	p.L484L	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			13	1585	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		484			Helical; (Potential).		A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	c.1452G>A	CCDS9493.1																																																																																				0.398	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			12	94	0	0	0	0.001855	0	12	94				
NALCN	259232	broad.mit.edu	37	13	101795488	101795488	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:101795488G>A	ENST00000251127.6	-	17	2142	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	687					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCGCAGGAGGAGGAAGAGG	0.463																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2059-2061)TCC>TCT		voltage gated channel like 1							199.0	173.0	182.0					13																	101795488		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795488G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2061C>T	13.37:g.101795488G>A						NALCN_uc001voy.2_Silent_p.S402S	p.S687S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			17	2250	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		687			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2061C>T	CCDS9498.1																																																																																				0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		24	70	0	0	0	0.00333	0	24	70				
NALCN	259232	broad.mit.edu	37	13	101795498	101795498	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:101795498G>A	ENST00000251127.6	-	17	2132	c.2051C>T	c.(2050-2052)aCc>aTc	p.T684I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	684					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGGAAGAGGTGGTCGGGAG	0.468																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2050-2052)ACC>ATC		voltage gated channel like 1							200.0	174.0	183.0					13																	101795498		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795498G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2051C>T	13.37:g.101795498G>A	ENSP00000251127:p.Thr684Ile					NALCN_uc001voy.2_Missense_Mutation_p.T399I	p.T684I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			17	2240	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		684			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2051C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181535	0.21787	.	.	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.9	5.05	0.67936	.	0.383689	0.31542	N	0.007467	D	0.94006	0.8080	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90854	0.4733	10	0.36615	T	0.2	.	15.0395	0.71777	0.0677:0.0:0.9323:0.0	.	684	Q8IZF0	NALCN_HUMAN	I	684	ENSP00000251127:T684I	ENSP00000251127:T684I	T	-	2	0	NALCN	100593499	1.000000	0.71417	0.153000	0.22517	0.015000	0.08874	9.238000	0.95380	1.501000	0.48654	0.650000	0.86243	ACC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		20	60	0	0	0	0.008871	0	20	60				
METTL21C	196541	broad.mit.edu	37	13	103338753	103338753	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:103338753A>T	ENST00000267273.6	-	4	428	c.423T>A	c.(421-423)gaT>gaA	p.D141E		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	141					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCAGGCAAATCTGTTGCTG	0.423																																							uc001vpj.2		NA																	0					0						c.(421-423)GAT>GAA		hypothetical protein LOC196541							56.0	55.0	56.0					13																	103338753		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338753A>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.423T>A	13.37:g.103338753A>T	ENSP00000267273:p.Asp141Glu					C13orf39_uc001vpk.2_Missense_Mutation_p.D141E	p.D141E	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			4	429	-			141						Missense_Mutation	SNP	ENST00000267273.6	37	c.423T>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589228	0.66105	.	.	ENSG00000139780	ENST00000267273	T	0.53640	0.61	5.68	-0.493	0.12038	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.77103	2.36	0.29289	N	0.869518	D	0.89917	1.0	D	0.91635	0.999	T	0.61806	-0.6987	10	0.72032	D	0.01	-16.1349	10.5023	0.44813	0.5607:0.0:0.4393:0.0	.	141	Q5VZV1	MT21C_HUMAN	E	141	ENSP00000267273:D141E	ENSP00000267273:D141E	D	-	3	2	METTL21C	102136754	0.047000	0.20315	0.047000	0.18901	0.956000	0.61745	0.494000	0.22467	-0.072000	0.12864	0.528000	0.53228	GAT		0.423	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		14	56	0	0	0	0.003163	0	14	56				
ERCC5	2073	broad.mit.edu	37	13	103515012	103515012	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:103515012A>C	ENST00000355739.4	+	8	2936	c.1513A>C	c.(1513-1515)Agt>Cgt	p.S505R	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.E930A|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	505					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCTCTGGAGAGTGCAGTGGT	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1513-1515)AGT>CGT	Direct_reversal_of_damage|NER	XPG-complementing protein							65.0	58.0	61.0					13																	103515012		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103515012A>C	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1513A>C	13.37:g.103515012A>C	ENSP00000347978:p.Ser505Arg					ERCC5_uc001vpu.1_Missense_Mutation_p.S959R|ERCC5_uc010tjb.1_Missense_Mutation_p.S505R|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.S337R	p.S505R	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1956	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		505					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1513A>C	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403923	0.25291	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.04654	3.58	5.54	0.0234	0.14137	.	1.228400	0.05282	N	0.519506	T	0.04363	0.0120	L	0.51422	1.61	0.09310	N	1	P;P;B	0.34462	0.454;0.454;0.309	B;B;B	0.29785	0.107;0.107;0.055	T	0.41645	-0.9497	10	0.19147	T	0.46	0.0607	0.8439	0.01156	0.5035:0.139:0.1794:0.1781	.	505;505;930	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	R	930;505;337	ENSP00000347978:S505R	ENSP00000347978:S505R	S	+	1	0	ERCC5	102313013	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.596000	0.24044	-0.217000	0.10033	0.533000	0.62120	AGT		0.468	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			14	53	0	0	0	0.00245	0	14	53				
ATP11A	23250	broad.mit.edu	37	13	113530213	113530213	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:113530213C>T	ENST00000487903.1	+	28	3373	c.3285C>T	c.(3283-3285)gtC>gtT	p.V1095V	ATP11A_ENST00000283558.8_Silent_p.V1095V|ATP11A_ENST00000375630.2_Silent_p.V1095V|ATP11A_ENST00000375645.3_Silent_p.V1095V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1095					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAAGAAAGTCCTGTGCCGGC	0.642																																							uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(3283-3285)GTC>GTT		ATPase, class VI, type 11A isoform a							50.0	47.0	48.0					13																	113530213		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113530213C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3285C>T	13.37:g.113530213C>T						ATP11A_uc001vsj.3_Silent_p.V1095V|ATP11A_uc010ago.2_RNA	p.V1095V	NM_015205	NP_056020	P98196	AT11A_HUMAN			28	3373	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1095			Cytoplasmic (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.3285C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	1.564	-0.535819	0.04082	.	.	ENSG00000068650	ENST00000415301	.	.	.	4.79	-1.96	0.07525	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26395	-1.0104	4	.	.	.	.	1.2085	0.01899	0.2355:0.3411:0.2518:0.1716	.	.	.	.	S	31	.	.	P	+	1	0	ATP11A	112578214	0.000000	0.05858	0.890000	0.34922	0.017000	0.09413	-0.823000	0.04443	-0.539000	0.06273	-0.314000	0.08810	CCT		0.642	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		25	67	0	0	0	0.005443	0	25	67				
ADPRHL1	113622	broad.mit.edu	37	13	114077278	114077278	+	Silent	SNP	C	C	A	rs547546979		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:114077278C>A	ENST00000375418.3	-	7	1010	c.924G>T	c.(922-924)acG>acT	p.T308T	ADPRHL1_ENST00000356501.4_Silent_p.T226T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	308					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CAATGGTGCCCGTGGCCGCGC	0.647																																							uc001vtq.1		NA																	0					0						c.(922-924)ACG>ACT		ADP-ribosylhydrolase like 1 isoform 1							78.0	71.0	74.0					13																	114077278		2203	4297	6500	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114077278C>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.924G>T	13.37:g.114077278C>A						ADPRHL1_uc001vtp.1_Silent_p.T226T	p.T308T	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		7	1011	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	308					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.924G>T	CCDS9535.1																																																																																				0.647	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		8	90	1	0	0.000157383	0.00308	0.000167912	8	90				
OR4M1	441670	broad.mit.edu	37	14	20248712	20248712	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:20248712A>T	ENST00000315957.4	+	1	312	c.231A>T	c.(229-231)acA>acT	p.T77T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCCATTACAGCCCCTAAAA	0.438																																							uc010tku.1		NA																	0					0						c.(229-231)ACA>ACT		olfactory receptor, family 4, subfamily M,							275.0	296.0	289.0					14																	20248712		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248712A>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.231A>T	14.37:g.20248712A>T							p.T77T	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	231	+	all_cancers(95;0.00108)		77			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.231A>T	CCDS32021.1																																																																																				0.438	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			57	413	0	0	0	0.00361	0	57	413				
OR4K15	81127	broad.mit.edu	37	14	20444032	20444032	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:20444032G>C	ENST00000305051.5	+	1	430	c.355G>C	c.(355-357)Gat>Cat	p.D119H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTTTTGATGCCTGCCT	0.433																																							uc010tkx.1		NA																	0				ovary(1)	1						c.(355-357)GAT>CAT		olfactory receptor, family 4, subfamily K,							136.0	137.0	137.0					14																	20444032		2203	4298	6501	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444032G>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.355G>C	14.37:g.20444032G>C	ENSP00000304077:p.Asp119His						p.D119H	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	355	+	all_cancers(95;0.00108)		119			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.355G>C	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.342942	0.24339	.	.	ENSG00000169488	ENST00000305051	T	0.00402	7.56	3.8	-0.717	0.11208	GPCR, rhodopsin-like superfamily (1);	0.670270	0.13645	N	0.372697	T	0.00210	0.0006	N	0.16790	0.44	0.09310	N	1	P	0.38167	0.621	B	0.39068	0.289	T	0.36553	-0.9743	10	0.38643	T	0.18	.	1.3935	0.02256	0.2102:0.3377:0.2992:0.153	.	119	Q8NH41	OR4KF_HUMAN	H	119	ENSP00000304077:D119H	ENSP00000304077:D119H	D	+	1	0	OR4K15	19513872	0.000000	0.05858	0.532000	0.27989	0.860000	0.49131	-2.931000	0.00688	-0.028000	0.13850	0.585000	0.79938	GAT		0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			38	147	0	0	0	0.004878	0	38	147				
G2E3	55632	broad.mit.edu	37	14	31077152	31077152	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31077152C>T	ENST00000206595.6	+	12	1531	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	G2E3_ENST00000553504.1_Silent_p.H489H|G2E3_ENST00000438909.2_Silent_p.H413H	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	459	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGTTCACGGTGGTCCTT	0.348																																							uc001wqk.2		NA																	0				ovary(2)|skin(1)	3						c.(1375-1377)CAC>CAT		G2/M-phase specific E3 ubiquitin ligase							84.0	79.0	80.0					14																	31077152		2203	4299	6502	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077152C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1377C>T	14.37:g.31077152C>T						G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Silent_p.H413H	p.H459H	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			12	1531	+			459			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.1377C>T	CCDS9638.1																																																																																				0.348	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		10	42	0	0	0	0.00245	0	10	42				
HECTD1	25831	broad.mit.edu	37	14	31597942	31597942	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31597942C>T	ENST00000399332.1	-	25	5123	c.4635G>A	c.(4633-4635)ttG>ttA	p.L1545L	HECTD1_ENST00000553700.1_Silent_p.L1545L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1545	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAAAACTCTCCAAGCTAGATG	0.458																																							uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(4633-4635)TTG>TTA		HECT domain containing 1							115.0	103.0	107.0					14																	31597942		1966	4157	6123	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597942C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4635G>A	14.37:g.31597942C>T						HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.L1013L	p.L1545L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	5124	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1545			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.4635G>A	CCDS41939.1																																																																																				0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			11	46	0	0	0	0.000978	0	11	46				
HEATR5A	25938	broad.mit.edu	37	14	31778294	31778294	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31778294A>T	ENST00000389961.3	-	28	4517	c.4518T>A	c.(4516-4518)ctT>ctA	p.L1506L	AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.L1219L|HEATR5A_ENST00000543095.2_Silent_p.L1512L|HEATR5A_ENST00000439348.1_Silent_p.L1506L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1506										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCGTGCTTGTAAGCCACAATG	0.463																																							uc001wrf.3		NA																	0				ovary(1)	1						c.(3655-3657)CTT>CTA		HEAT repeat containing 5A							199.0	186.0	190.0					14																	31778294		1920	4136	6056	SO:0001819	synonymous_variant	25938						binding	g.chr14:31778294A>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4518T>A	14.37:g.31778294A>T						HEATR5A_uc010ami.2_Silent_p.L1117L	p.L1219L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	23	3734	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1506					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.3657T>A		.	.	.	.	.	.	.	.	.	.	A	9.201	1.028571	0.19512	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.52	-1.51	0.08664	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3722	3.5628	0.07889	0.4484:0.1059:0.3421:0.1037	.	.	.	.	X	1140	.	ENSP00000439979:L1140X	L	-	2	0	HEATR5A	30848045	0.879000	0.30193	0.996000	0.52242	0.975000	0.68041	0.087000	0.14958	-0.137000	0.11455	-0.250000	0.11733	TTA		0.463	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		48	131	0	0	0	0.00361	0	48	131				
SRP54	6729	broad.mit.edu	37	14	35468792	35468792	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:35468792G>C	ENST00000556994.1	+	4	504	c.107G>C	c.(106-108)tGt>tCt	p.C36S	SRP54_ENST00000555557.1_Intron|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000216774.6_Missense_Mutation_p.C36S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	36	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAAGTCTGTACCGCTTTG	0.303																																							uc001wso.2		NA																	0				ovary(1)	1						c.(106-108)TGT>TCT		signal recognition particle 54kDa isoform 1							103.0	107.0	105.0					14																	35468792		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35468792G>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.107G>C	14.37:g.35468792G>C	ENSP00000451818:p.Cys36Ser					SRP54_uc010tpp.1_Intron|SRP54_uc010tpq.1_Intron	p.C36S	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	3	458	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		36			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.107G>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059784	0.76074	.	.	ENSG00000100883	ENST00000556994;ENST00000554803;ENST00000555746;ENST00000216774	.	.	.	5.64	5.64	0.86602	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	L	0.50919	1.6	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.65660	-0.6114	9	0.12430	T	0.62	-10.3838	19.7069	0.96076	0.0:0.0:1.0:0.0	.	36	P61011	SRP54_HUMAN	S	36	.	ENSP00000216774:C36S	C	+	2	0	SRP54	34538543	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.649000	0.98487	2.654000	0.90174	0.563000	0.77884	TGT		0.303	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		6	91	0	0	0	0.001168	0	6	91				
LRFN5	145581	broad.mit.edu	37	14	42356095	42356095	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:42356095T>C	ENST00000298119.4	+	3	1456	c.267T>C	c.(265-267)ttT>ttC	p.F89F	LRFN5_ENST00000554120.1_Silent_p.F89F|LRFN5_ENST00000554171.1_Silent_p.F89F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	89						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAAGTTTTATTACACCTC	0.363										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(265-267)TTT>TTC		leucine rich repeat and fibronectin type III							54.0	55.0	54.0					14																	42356095		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356095T>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.267T>C	14.37:g.42356095T>C		HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.F89F	p.F89F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1465	+			89			Extracellular (Potential).|LRR 2.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.267T>C	CCDS9678.1																																																																																				0.363	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		14	64	0	0	0	0.004007	0	14	64				
MDGA2	161357	broad.mit.edu	37	14	47504297	47504297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:47504297G>T	ENST00000399232.2	-	8	1893	c.1529C>A	c.(1528-1530)tCa>tAa	p.S510*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.S281*|MDGA2_ENST00000426342.1_Nonsense_Mutation_p.S281*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.S579*	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	510	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTACATTCCTGACATTTCCCT	0.423																																							uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1528-1530)TCA>TAA		MAM domain containing 1 isoform 1							172.0	168.0	169.0					14																	47504297		1984	4156	6140	SO:0001587	stop_gained	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504297G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1529C>A	14.37:g.47504297G>T	ENSP00000382178:p.Ser510*					MDGA2_uc001wwi.3_Nonsense_Mutation_p.S281*|MDGA2_uc010ani.2_Nonsense_Mutation_p.S70*	p.S510*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1725	-			510			Ig-like 5.		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37	c.1529C>A		.	.	.	.	.	.	.	.	.	.	G	42	9.537441	0.99198	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.	.	.	5.52	5.52	0.82312	.	0.168555	0.27792	U	0.017836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0085	0.89216	0.0:0.0:1.0:0.0	.	.	.	.	X	510;281;579;281	.	ENSP00000349925:S281X	S	-	2	0	MDGA2	46574047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.701000	0.68325	2.608000	0.88229	0.491000	0.48974	TCA		0.423	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		22	105	1	0	2.89027e-11	0.002299	3.49756e-11	22	105				
DNAAF2	55172	broad.mit.edu	37	14	50100073	50100073	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:50100073C>T	ENST00000298292.8	-	1	1875	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A599T	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	599					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GGAGATTTTGCCAGTTCTATC	0.383																																							uc001wws.3		NA																	0					0						c.(1795-1797)GCA>ACA		kintoun isoform 1							97.0	93.0	94.0					14																	50100073		2203	4300	6503	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100073C>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1795G>A	14.37:g.50100073C>T	ENSP00000298292:p.Ala599Thr					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.A599T	p.A599T	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	1876	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		599					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.1795G>A	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	c	13.85	2.361379	0.41801	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.13420	2.59;2.59	5.23	3.34	0.38264	.	0.198741	0.31123	N	0.008202	T	0.08358	0.0208	L	0.29908	0.895	0.27460	N	0.953183	P;P	0.43287	0.732;0.802	B;B	0.37888	0.26;0.184	T	0.19321	-1.0309	10	0.18276	T	0.48	.	8.5889	0.33674	0.3394:0.5849:0.0:0.0757	.	599;599	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	T	599	ENSP00000298292:A599T;ENSP00000384862:A599T	ENSP00000298292:A599T	A	-	1	0	DNAAF2	49169823	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.390000	0.20768	1.322000	0.45245	0.550000	0.68814	GCA		0.383	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			14	39	0	0	0	0.00245	0	14	39				
SOS2	6655	broad.mit.edu	37	14	50666524	50666524	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:50666524G>A	ENST00000216373.5	-	4	669	c.395C>T	c.(394-396)gCt>gTt	p.A132V	SOS2_ENST00000543680.1_Missense_Mutation_p.A132V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	132					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTCTAGTACAGCCACAATATA	0.318																																							uc001wxs.3		NA																	0				ovary(2)	2						c.(394-396)GCT>GTT		son of sevenless homolog 2							78.0	83.0	82.0					14																	50666524		2203	4294	6497	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50666524G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.395C>T	14.37:g.50666524G>A	ENSP00000216373:p.Ala132Val					SOS2_uc010tql.1_Missense_Mutation_p.A132V	p.A132V	NM_006939	NP_008870	Q07890	SOS2_HUMAN			4	493	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		132					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.395C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178390	0.94846	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.71103	-0.54;-0.54	4.88	4.88	0.63580	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.90200	0.4256	10	0.87932	D	0	.	18.3959	0.90497	0.0:0.0:1.0:0.0	.	132;132	B7ZKT6;Q07890	.;SOS2_HUMAN	V	132	ENSP00000216373:A132V;ENSP00000445328:A132V	ENSP00000216373:A132V	A	-	2	0	SOS2	49736274	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.425000	0.82216	0.563000	0.77884	GCT		0.318	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			20	122	0	0	0	0.001882	0	20	122				
TXNDC16	57544	broad.mit.edu	37	14	52957649	52957649	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:52957649A>T	ENST00000281741.4	-	10	1202	c.831T>A	c.(829-831)gtT>gtA	p.V277V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	277					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CCTGTTGGCTAACAATAAAAA	0.388																																							uc001wzs.2		NA																	0					0						c.(829-831)GTT>GTA		thioredoxin domain containing 16 isoform 1							88.0	91.0	90.0					14																	52957649		2203	4300	6503	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52957649A>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.831T>A	14.37:g.52957649A>T						TXNDC16_uc010tqu.1_Silent_p.V272V|TXNDC16_uc010aoe.2_RNA	p.V277V	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			10	1280	-	Breast(41;0.0716)		277					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.831T>A	CCDS32083.1																																																																																				0.388	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		15	58	0	0	0	0.003163	0	15	58				
TXNDC16	57544	broad.mit.edu	37	14	52957674	52957674	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:52957674A>G	ENST00000281741.4	-	10	1177	c.806T>C	c.(805-807)cTg>cCg	p.L269P	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	269					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGGTAAGCCCAGTTGGAGATG	0.388																																							uc001wzs.2		NA																	0					0						c.(805-807)CTG>CCG		thioredoxin domain containing 16 isoform 1							81.0	86.0	84.0					14																	52957674		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52957674A>G	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.806T>C	14.37:g.52957674A>G	ENSP00000281741:p.Leu269Pro					TXNDC16_uc010tqu.1_Missense_Mutation_p.L264P|TXNDC16_uc010aoe.2_RNA	p.L269P	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			10	1255	-	Breast(41;0.0716)		269					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.806T>C	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400150	0.42613	.	.	ENSG00000087301	ENST00000281741	T	0.20881	2.04	5.46	5.46	0.80206	.	0.064498	0.64402	D	0.000007	T	0.45256	0.1333	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73708	0.981;0.957	T	0.44421	-0.9329	10	0.87932	D	0	-27.0131	13.7728	0.63036	1.0:0.0:0.0:0.0	.	264;269	B7ZME4;Q9P2K2	.;TXD16_HUMAN	P	269	ENSP00000281741:L269P	ENSP00000281741:L269P	L	-	2	0	TXNDC16	52027424	1.000000	0.71417	0.968000	0.41197	0.013000	0.08279	5.916000	0.69981	2.187000	0.69744	0.533000	0.62120	CTG		0.388	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		11	56	0	0	0	0.000978	0	11	56				
KIAA0586	9786	broad.mit.edu	37	14	58965577	58965577	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:58965577T>C	ENST00000556134.1	+	28	4296	c.4022T>C	c.(4021-4023)aTg>aCg	p.M1341T	KIAA0586_ENST00000423743.3_Missense_Mutation_p.M1312T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M1280T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1409T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1341					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACATCTTAATGGGACATTCT	0.413																																							uc001xdv.3		NA																	0				ovary(1)	1						c.(3838-3840)ATG>ACG		talpid3 protein							82.0	76.0	78.0					14																	58965577		1899	4128	6027	SO:0001583	missense	9786							g.chr14:58965577T>C	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4022T>C	14.37:g.58965577T>C	ENSP00000452351:p.Met1341Thr					KIAA0586_uc010trr.1_Missense_Mutation_p.M1397T|KIAA0586_uc001xdt.3_Missense_Mutation_p.M1312T|KIAA0586_uc001xdu.3_Missense_Mutation_p.M1341T|KIAA0586_uc010trs.1_Missense_Mutation_p.M1271T|KIAA0586_uc010trt.1_Missense_Mutation_p.M1216T	p.M1280T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			26	4112	+			1280					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.3839T>C	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	9.785	1.176237	0.21704	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000555397	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.89	-2.05	0.07321	.	1.330290	0.05206	N	0.505836	T	0.31451	0.0797	.	.	.	0.09310	N	0.999995	B;B;B;B;B	0.32467	0.058;0.372;0.075;0.103;0.103	B;B;B;B;B	0.30316	0.025;0.114;0.043;0.025;0.037	T	0.17806	-1.0357	9	0.59425	D	0.04	.	1.584	0.02640	0.1267:0.2249:0.1316:0.5168	.	1216;1409;1280;1341;1312	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	T	1409;1341;1312;1280;38	ENSP00000346359:M1409T;ENSP00000452351:M1341T;ENSP00000399427:M1312T;ENSP00000261244:M1280T;ENSP00000451356:M38T	ENSP00000261244:M1280T	M	+	2	0	KIAA0586	58035330	0.842000	0.29525	0.000000	0.03702	0.006000	0.05464	1.087000	0.30865	-0.696000	0.05098	-0.353000	0.07706	ATG		0.413	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		9	31	0	0	0	0.006214	0	9	31				
PRKCH	5583	broad.mit.edu	37	14	62014573	62014573	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:62014573G>A	ENST00000332981.5	+	13	2259	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	PRKCH_ENST00000555082.1_Missense_Mutation_p.R464H|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A130T	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	625	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGAACCATCGCCAAATAGAA	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1873-1875)CGC>CAC		protein kinase C, eta							162.0	158.0	160.0					14																	62014573		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014573G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1874G>A	14.37:g.62014573G>A	ENSP00000329127:p.Arg625His					PRKCH_uc010tsa.1_Missense_Mutation_p.R464H|PRKCH_uc010tsb.1_Missense_Mutation_p.R193H|PRKCH_uc001xfo.2_RNA	p.R625H	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2179	+			625			AGC-kinase C-terminal.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1874G>A	CCDS9752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.033844|5.033844	0.93575|0.93575	.|.	.|.	ENSG00000258989|ENSG00000027075	ENST00000556347|ENST00000332981;ENST00000555082	.|T;T	.|0.54071	.|0.59;0.59	5.89|5.89	5.89|5.89	0.94794|0.94794	.|AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.|0.101091	.|0.41938	.|D	.|0.000786	T|T	0.78065|0.78065	0.4225|0.4225	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.82606|0.82606	-0.0374|-0.0374	5|10	.|0.87932	.|D	.|0	.|.	13.457|13.457	0.61204|0.61204	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	.|625	.|P24723	.|KPCL_HUMAN	T|H	130|625;464	.|ENSP00000329127:R625H;ENSP00000450981:R464H	.|ENSP00000329127:R625H	A|R	+|+	1|2	0|0	RP11-47I22.4|PRKCH	61084326|61084326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.753000|6.753000	0.74904|0.74904	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		58	196	0	0	0	0.00361	0	58	196				
SYNE2	23224	broad.mit.edu	37	14	64580082	64580082	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:64580082T>G	ENST00000344113.4	+	66	12845	c.12633T>G	c.(12631-12633)gcT>gcG	p.A4211A	SYNE2_ENST00000555002.1_Silent_p.A845A|SYNE2_ENST00000394768.2_Silent_p.A596A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.A596A|SYNE2_ENST00000554584.1_Silent_p.A4226A|SYNE2_ENST00000358025.3_Silent_p.A4211A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4211					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTATTGAGGCTGACACTCTGG	0.552																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12631-12633)GCT>GCG		spectrin repeat containing, nuclear envelope 2							62.0	63.0	62.0					14																	64580082		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64580082T>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12633T>G	14.37:g.64580082T>G						SYNE2_uc001xgl.2_Silent_p.A4211A|SYNE2_uc010apy.2_Silent_p.A596A|SYNE2_uc010apz.1_Silent_p.A103A	p.A4211A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	66	12863	+			4211			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.12633T>G	CCDS41963.1																																																																																				0.552	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		10	53	0	0	0	0.000978	0	10	53				
ZBTB25	7597	broad.mit.edu	37	14	64957119	64957119	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:64957119A>G	ENST00000608382.1	-	2	324	c.133T>C	c.(133-135)Ttt>Ctt	p.F45L	ZBTB25_ENST00000555220.1_Missense_Mutation_p.F45L|ZBTB25_ENST00000555424.1_Missense_Mutation_p.F45L|ZBTB25_ENST00000394715.1_Missense_Mutation_p.F45L	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	45	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TAGTTAGAAAAAGCAGCAAGC	0.338																																							uc001xhf.2		NA																	0				ovary(1)|skin(1)	2						c.(133-135)TTT>CTT		zinc finger protein 46							69.0	71.0	70.0					14																	64957119		2203	4300	6503	SO:0001583	missense	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64957119A>G	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.133T>C	14.37:g.64957119A>G	ENSP00000476746:p.Phe45Leu					ZBTB25_uc001xhc.2_Missense_Mutation_p.F45L|ZBTB25_uc001xhg.2_Missense_Mutation_p.F45L	p.F45L	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	2	316	-			45			BTB.		B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	c.133T>C	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037129	0.93630	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.39	5.39	0.77823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.981	T	0.80190	-0.1485	10	0.62326	D	0.03	-21.8884	15.6884	0.77430	1.0:0.0:0.0:0.0	.	45;45	P24278;G3V2K3	ZBT25_HUMAN;.	L	45	ENSP00000450718:F45L;ENSP00000451046:F45L;ENSP00000261683:F45L;ENSP00000378204:F45L	ENSP00000261683:F45L	F	-	1	0	ZBTB25	64026872	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.197000	0.94985	2.175000	0.68902	0.260000	0.18958	TTT		0.338	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		19	58	0	0	0	0.008871	0	19	58				
PCNX	22990	broad.mit.edu	37	14	71575562	71575562	+	Silent	SNP	C	C	T	rs369821499		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:71575562C>T	ENST00000304743.2	+	34	6989	c.6543C>T	c.(6541-6543)agC>agT	p.S2181S	PCNX_ENST00000238570.5_Silent_p.S2109S|PCNX_ENST00000439984.3_Silent_p.S2070S|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2181	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGTCAGAGCGGCCTGGCCT	0.567																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(6541-6543)AGC>AGT		pecanex-like 1		C		0,4406		0,0,2203	74.0	69.0	70.0		6543	-4.0	0.8	14		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCNX	NM_014982.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2181/2342	71575562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71575562C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6543C>T	14.37:g.71575562C>T						PCNX_uc010are.1_Silent_p.S2070S|PCNX_uc010arf.1_Silent_p.S969S|PCNX_uc001xmp.2_Silent_p.S265S	p.S2181S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	6989	+			2181			Ser-rich.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.6543C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899599	0.02472	0.0	1.16E-4	ENSG00000100731	ENST00000554691	.	.	.	5.86	-4.02	0.04034	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35871	-0.9771	4	.	.	.	.	2.8644	0.05596	0.0978:0.3213:0.2884:0.2925	.	.	.	.	V	1168	.	.	A	+	2	0	PCNX	70645315	0.017000	0.18338	0.839000	0.33178	0.044000	0.14063	-1.124000	0.03260	-0.563000	0.06078	-1.193000	0.01689	GCG		0.567	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	48	0	0	0	0.001168	0	5	48				
SIPA1L1	26037	broad.mit.edu	37	14	72054904	72054904	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:72054904C>G	ENST00000555818.1	+	2	663	c.315C>G	c.(313-315)tgC>tgG	p.C105W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.C105W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.C105W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	105					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTCAAGTTGCCTTGATAGCC	0.463																																							uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(313-315)TGC>TGG		signal-induced proliferation-associated 1 like							138.0	145.0	143.0					14																	72054904		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054904C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.315C>G	14.37:g.72054904C>G	ENSP00000450832:p.Cys105Trp					SIPA1L1_uc001xmt.2_Missense_Mutation_p.C105W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.C105W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.C105W	p.C105W	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	663	+			105					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.315C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.277979	0.23307	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.76186	-0.99;-0.99;-1.0	5.93	5.93	0.95920	.	0.266016	0.44285	D	0.000479	T	0.56366	0.1980	N	0.08118	0	0.80722	D	1	P;B;P	0.50369	0.934;0.0;0.934	B;B;B	0.40741	0.339;0.002;0.339	T	0.64313	-0.6437	10	0.52906	T	0.07	-25.1973	13.7909	0.63140	0.0:0.9274:0.0:0.0726	.	105;105;105	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	W	105	ENSP00000370630:C105W;ENSP00000450832:C105W;ENSP00000351352:C105W	ENSP00000351352:C105W	C	+	3	2	SIPA1L1	71124657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	TGC		0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		22	110	0	0	0	0.001882	0	22	110				
COQ6	51004	broad.mit.edu	37	14	74428590	74428590	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:74428590C>T	ENST00000334571.2	+	11	1401	c.1361C>T	c.(1360-1362)gCa>gTa	p.A454V	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.A379V|COQ6_ENST00000394026.4_Missense_Mutation_p.A429V|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	454					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCCACAAATGCAGTGTCTCCA	0.458																																							uc001xph.2		NA																	0					0						c.(1360-1362)GCA>GTA		coenzyme Q6 homolog isoform a							140.0	138.0	138.0					14																	74428590		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74428590C>T	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1361C>T	14.37:g.74428590C>T	ENSP00000333946:p.Ala454Val					ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.A379V|COQ6_uc001xpf.2_Missense_Mutation_p.A379V|COQ6_uc010tuk.1_Missense_Mutation_p.A429V|COQ6_uc001xpg.2_Intron	p.A454V	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	11	1441	+			454					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1361C>T	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881912	0.72294	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000556299	T;T;T	0.41758	0.99;0.99;0.99	5.55	4.66	0.58398	.	0.095304	0.64402	D	0.000001	T	0.56046	0.1959	M	0.71871	2.18	0.80722	D	1	P;P;D;P	0.54601	0.945;0.761;0.967;0.761	P;B;P;P	0.56163	0.626;0.296;0.793;0.512	T	0.55786	-0.8086	10	0.29301	T	0.29	-11.0216	14.732	0.69388	0.0:0.9308:0.0:0.0692	.	429;454;379;379	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	V	429;379;379;454;142	ENSP00000377594:A429V;ENSP00000238709:A379V;ENSP00000333946:A454V	ENSP00000238709:A379V	A	+	2	0	COQ6	73498343	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	4.607000	0.61133	1.578000	0.49821	0.655000	0.94253	GCA		0.458	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			15	131	0	0	0	0.004007	0	15	131				
VRTN	55237	broad.mit.edu	37	14	74824469	74824469	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:74824469G>A	ENST00000256362.4	+	2	1224	c.983G>A	c.(982-984)gGc>gAc	p.G328D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	328					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACCGGGGGGGCGTCGTGCCA	0.657																																							uc001xpw.3		NA																	2	Insertion - Frameshift(2)	p.V329fs*25(2)	large_intestine(2)		0						c.(982-984)GGC>GAC		hypothetical protein LOC55237							52.0	58.0	56.0					14																	74824469		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824469G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.983G>A	14.37:g.74824469G>A	ENSP00000256362:p.Gly328Asp						p.G328D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1174	+			328					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.983G>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081299	0.36758	.	.	ENSG00000133980	ENST00000256362	T	0.40756	1.02	5.02	4.05	0.47172	.	0.229124	0.37857	N	0.001910	T	0.22975	0.0555	N	0.24115	0.695	0.35717	D	0.816873	P	0.52316	0.952	B	0.40165	0.321	T	0.10941	-1.0608	10	0.33141	T	0.24	-1.759	4.8835	0.13692	0.2077:0.0:0.7923:0.0	.	328	Q9H8Y1	VRTN_HUMAN	D	328	ENSP00000256362:G328D	ENSP00000256362:G328D	G	+	2	0	VRTN	73894222	1.000000	0.71417	0.817000	0.32601	0.179000	0.23085	6.699000	0.74613	2.602000	0.87976	0.561000	0.74099	GGC		0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		7	64	0	0	0	0.008291	0	7	64				
SNW1	22938	broad.mit.edu	37	14	78198920	78198920	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:78198920G>A	ENST00000261531.7	-	9	861	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.R267C|SNW1_ENST00000554775.1_Missense_Mutation_p.R105C	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	267	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCAGCCAGACGTTTGTCTAAT	0.388																																							uc001xuf.2		NA																	0				ovary(1)	1						c.(799-801)CGT>TGT		SKI-interacting protein							77.0	72.0	73.0					14																	78198920		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78198920G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.799C>T	14.37:g.78198920G>A	ENSP00000261531:p.Arg267Cys					SNW1_uc010tvm.1_Missense_Mutation_p.R192C|SNW1_uc010asu.2_Missense_Mutation_p.R105C|SNW1_uc010tvn.1_Missense_Mutation_p.R267C	p.R267C	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	9	826	-			267			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.799C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898148	0.91962	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.8	4.91	0.64330	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90724	0.4637	9	0.87932	D	0	.	14.7421	0.69464	0.0695:0.0:0.9305:0.0	.	267;267	G3V3A4;Q13573	.;SNW1_HUMAN	C	267;105;267;267;173	.	ENSP00000261531:R267C	R	-	1	0	SNW1	77268673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	1.448000	0.47680	0.563000	0.77884	CGT		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		4	56	0	0	0	0.009096	0	4	56				
EML5	161436	broad.mit.edu	37	14	89220988	89220988	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:89220988C>T	ENST00000380664.5	-	2	224	c.225G>A	c.(223-225)ttG>ttA	p.L75L	EML5_ENST00000554922.1_Silent_p.L75L|EML5_ENST00000352093.5_Silent_p.L75L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	75						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCTACCAACACTCGTT	0.333																																							uc001xxg.2		NA																	0				ovary(3)	3						c.(223-225)TTG>TTA		echinoderm microtubule associated protein like							76.0	68.0	70.0					14																	89220988		1836	4087	5923	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89220988C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.225G>A	14.37:g.89220988C>T							p.L75L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			3	411	-			75			WD 1.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.225G>A	CCDS45148.1																																																																																				0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	9	0	0	0	0.000602	0	4	9				
NRDE2	55051	broad.mit.edu	37	14	90769341	90769341	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:90769341C>A	ENST00000354366.3	-	6	1366	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	NRDE2_ENST00000357904.3_Missense_Mutation_p.Q147H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	378																	CCACACTGCTCTGGTTGCTCT	0.522																																							uc001xyi.1		NA																	0				ovary(2)|lung(1)	3						c.(1132-1134)CAG>CAT		hypothetical protein LOC55051 isoform 1							87.0	86.0	86.0					14																	90769341		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90769341C>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1134G>T	14.37:g.90769341C>A	ENSP00000346335:p.Gln378His					C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.1_Missense_Mutation_p.Q147H	p.Q378H	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	6	1165	-		all_cancers(154;0.118)	378			Potential.		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1134G>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919697	0.33908	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.33654	1.4;1.4	5.51	2.66	0.31614	Tetratricopeptide-like helical (1);Domain of unknown function DUF1740 (1);	0.420078	0.24776	N	0.035700	T	0.24275	0.0588	L	0.33485	1.01	0.18873	N	0.999982	B	0.12013	0.005	B	0.12837	0.008	T	0.15037	-1.0451	10	0.33141	T	0.24	-2.6105	7.6439	0.28309	0.0:0.6191:0.0:0.3809	.	378	Q9H7Z3	CN102_HUMAN	H	378;147	ENSP00000346335:Q378H;ENSP00000350579:Q147H	ENSP00000346335:Q378H	Q	-	3	2	C14orf102	89839094	0.314000	0.24563	0.957000	0.39632	0.977000	0.68977	0.296000	0.19083	0.660000	0.30964	0.650000	0.86243	CAG		0.522	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		6	83	1	0	0.00116845	0.001168	0.00122973	6	83				
AL133373.1	0	broad.mit.edu	37	14	92040779	92040779	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:92040779G>A	ENST00000596306.1	-	1	604	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S																								CGCCGCTCGGGTGTACTGTTC	0.657																																							uc010aua.1		NA																	0					0						c.(178-180)CCC>TCC		hypothetical protein LOC650662							19.0	21.0	21.0					14																	92040779		1911	4133	6044	SO:0001583	missense	650662							g.chr14:92040779G>A																												ENST00000596306.1:c.178C>T	14.37:g.92040779G>A	ENSP00000472226:p.Pro60Ser						p.P60S	NM_001080113	NP_001073582	Q8WYT3	CN184_HUMAN			1	605	-			60						Missense_Mutation	SNP	ENST00000596306.1	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	G	4.152	0.026573	0.08054	.	.	ENSG00000247097	ENST00000498919	.	.	.	0.825	-0.759	0.11045	.	.	.	.	.	T	0.37348	0.1000	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47315	-0.9127	4	0.87932	D	0	.	3.9286	0.09275	0.0:0.0:0.5112:0.4888	.	.	.	.	S	60	.	ENSP00000420823:P60S	P	-	1	0	AL133373.1	91110532	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.606000	0.05654	-0.217000	0.10033	0.306000	0.20318	CCC		0.657	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	9	0	0	0	0.001984	0	5	9				
DICER1	23405	broad.mit.edu	37	14	95572020	95572020	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:95572020T>C	ENST00000526495.1	-	21	3379	c.3088A>G	c.(3088-3090)Aaa>Gaa	p.K1030E	DICER1_ENST00000541352.1_Missense_Mutation_p.K1030E|DICER1_ENST00000556045.1_De_novo_Start_InFrame|DICER1_ENST00000527414.1_Missense_Mutation_p.K1030E|DICER1_ENST00000393063.1_Missense_Mutation_p.K1030E|DICER1_ENST00000343455.3_Missense_Mutation_p.K1030E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1030	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTACCTGTTTATTCTGCAGA	0.333			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3088-3090)AAA>GAA		dicer1							60.0	52.0	55.0					14																	95572020		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572020T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3088A>G	14.37:g.95572020T>C	ENSP00000437256:p.Lys1030Glu					DICER1_uc010avh.1_Translation_Start_Site|DICER1_uc001ydv.2_Missense_Mutation_p.K1020E|DICER1_uc001ydx.2_Missense_Mutation_p.K1030E|DICER1_uc001ydy.1_5'Flank	p.K1030E	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3270	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1030			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3088A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042570	0.93685	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.43	5.43	0.79202	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01904	-1.1250	10	0.23891	T	0.37	-28.181	15.4757	0.75478	0.0:0.0:0.0:1.0	.	1030	Q9UPY3	DICER_HUMAN	E	1030	ENSP00000343745:K1030E;ENSP00000437256:K1030E;ENSP00000376783:K1030E;ENSP00000435681:K1030E;ENSP00000444719:K1030E	ENSP00000343745:K1030E	K	-	1	0	DICER1	94641773	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.008000	0.88588	2.062000	0.61559	0.533000	0.62120	AAA		0.333	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			17	40	0	0	0	0.004007	0	17	40				
CDC42BPB	9578	broad.mit.edu	37	14	103416123	103416123	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:103416123G>A	ENST00000361246.2	-	26	3716	c.3428C>T	c.(3427-3429)gCg>gTg	p.A1143V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACTTGGCTCGCAATGACACC	0.517																																							uc001ymi.1		NA																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3427-3429)GCG>GTG		CDC42-binding protein kinase beta							151.0	121.0	131.0					14																	103416123		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416123G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3428C>T	14.37:g.103416123G>A	ENSP00000355237:p.Ala1143Val					CDC42BPB_uc001ymj.1_Missense_Mutation_p.A245V	p.A1143V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	26	3660	-		Melanoma(154;0.155)	1143			PH.			Missense_Mutation	SNP	ENST00000361246.2	37	c.3428C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	1.703	-0.501159	0.04261	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.42900	0.96	5.32	4.43	0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.02685	-0.53	0.58432	D	0.999999	B;B	0.20261	0.015;0.043	B;B	0.14023	0.01;0.006	T	0.15435	-1.0437	10	0.02654	T	1	.	14.2253	0.65855	0.0723:0.0:0.9277:0.0	.	1143;1143	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	V	1143;254	ENSP00000355237:A1143V	ENSP00000355237:A1143V	A	-	2	0	CDC42BPB	102485876	1.000000	0.71417	0.698000	0.30274	0.177000	0.22998	7.976000	0.88070	1.386000	0.46466	0.561000	0.74099	GCG		0.517	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		6	74	0	0	0	0.00308	0	6	74				
TDRD9	122402	broad.mit.edu	37	14	104508420	104508420	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:104508420G>T	ENST00000409874.4	+	34	3918	c.3870G>T	c.(3868-3870)agG>agT	p.R1290S	TDRD9_ENST00000339063.5_Missense_Mutation_p.R1099S	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1290					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATTCTCAGGGCTGCTATTA	0.433																																							uc001yom.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3868-3870)AGG>AGT		tudor domain containing 9							130.0	121.0	124.0					14																	104508420		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104508420G>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3870G>T	14.37:g.104508420G>T	ENSP00000387303:p.Arg1290Ser					TDRD9_uc001yon.3_Missense_Mutation_p.R837S	p.R1290S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			34	3900	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1290					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3870G>T	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.265599|2.265599	0.40095|0.40095	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.09163	.|3.01;3.35	4.5|4.5	2.53|2.53	0.30540|0.30540	.|.	.|0.000000	.|0.53938	.|U	.|0.000046	T|T	0.29783|0.29783	0.0744|0.0744	M|M	0.79926|0.79926	2.475|2.475	0.09310|0.09310	N|N	0.999996|0.999996	.|D;D	.|0.89917	.|0.989;1.0	.|D;D	.|0.97110	.|0.978;1.0	T|T	0.02464|0.02464	-1.1155|-1.1155	5|10	.|0.66056	.|D	.|0.02	.|.	7.9867|7.9867	0.30216|0.30216	0.298:0.0:0.702:0.0|0.298:0.0:0.702:0.0	.|.	.|1099;1290	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	C|S	826|1290;1099	.|ENSP00000387303:R1290S;ENSP00000343545:R1099S	.|ENSP00000343545:R1099S	G|R	+|+	1|3	0|2	TDRD9|TDRD9	103578173|103578173	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.240000|0.240000	0.18042|0.18042	0.926000|0.926000	0.37118|0.37118	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.433	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		20	28	1	0	1.15919e-05	0.008871	1.26716e-05	20	28				
HERC2P3	283755	broad.mit.edu	37	15	20666449	20666449	+	RNA	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:20666449A>G	ENST00000428453.1	-	0	869							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTTACTGGCACATTCAATCT	0.438																																							uc001ytg.2		NA																	0					NA						c.(178-180)TGT>TGC		RecName: Full=Putative HERC2-like protein 3;							36.0	30.0	32.0					15																	20666449		2193	4262	6455			0							g.chr15:20666449A>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20666449A>G						uc010tyx.1_RNA|uc001yth.3_Silent_p.C60C|uc010tyy.1_Silent_p.C60C|uc010tyz.1_Intron	p.C60C							7	889	-									Silent	SNP	ENST00000428453.1	37	c.180T>C																																																																																					0.438	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	50	0	0	0	0.004482	0	5	50				
OR4M2	390538	broad.mit.edu	37	15	22369029	22369029	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22369029G>T	ENST00000332663.2	+	1	552	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGAGGGGGGGCTTCATTCA	0.502																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(454-456)GGC>TGC		olfactory receptor, family 4, subfamily M,							327.0	278.0	295.0					15																	22369029		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369029G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.454G>T	15.37:g.22369029G>T	ENSP00000329467:p.Gly152Cys					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.G152C	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	454	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	152			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.454G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.13	1.266442	0.23136	.	.	ENSG00000182974	ENST00000332663	T	0.39997	1.05	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000106	T	0.64940	0.2644	M	0.92026	3.265	0.24063	N	0.996009	D	0.89917	1.0	D	0.97110	1.0	T	0.54642	-0.8263	10	0.87932	D	0	-9.2657	5.3487	0.16024	0.1658:0.0:0.8342:0.0	.	152	Q8NGB6	OR4M2_HUMAN	C	152	ENSP00000329467:G152C	ENSP00000329467:G152C	G	+	1	0	OR4M2	19870393	0.116000	0.22171	0.965000	0.40720	0.201000	0.24016	2.131000	0.42074	1.422000	0.47177	0.448000	0.29417	GGC		0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			14	269	1	0	7.93312e-07	0.00245	8.86685e-07	14	269				
OR4N4	283694	broad.mit.edu	37	15	22382941	22382941	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22382941A>G	ENST00000328795.4	+	1	560	c.469A>G	c.(469-471)Att>Gtt	p.I157V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACTCCATTATCCAGGT	0.537																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(469-471)ATT>GTT		olfactory receptor, family 4, subfamily N,							91.0	78.0	83.0					15																	22382941		2187	4257	6444	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382941A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.469A>G	15.37:g.22382941A>G	ENSP00000332500:p.Ile157Val					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.I157V	p.I157V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1450	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	157			Helical; Name=4; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.469A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	1.476	-0.558626	0.03967	.	.	ENSG00000183706	ENST00000328795	T	0.00044	8.83	3.37	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.259745	0.26919	N	0.021822	T	0.00144	0.0004	L	0.33137	0.985	0.09310	N	1	B	0.28026	0.198	B	0.39590	0.304	T	0.11421	-1.0588	10	0.28530	T	0.3	-7.1838	2.8896	0.05673	0.6581:0.0:0.1251:0.2168	.	157	Q8N0Y3	OR4N4_HUMAN	V	157	ENSP00000332500:I157V	ENSP00000332500:I157V	I	+	1	0	OR4N4	19884305	0.000000	0.05858	0.996000	0.52242	0.071000	0.16799	-0.287000	0.08388	0.478000	0.27488	-0.539000	0.04255	ATT		0.537	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			20	125	0	0	0	0.004656	0	20	125				
RPS8P10	388076	broad.mit.edu	37	15	22440403	22440403	+	IGR	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22440403T>C								RP11-2F9.4 (4226 upstream) : IGHV1OR15-1 (7978 downstream)																							TTTCATGATATTTCTTCTGAA	0.483																																							uc001yug.2		NA																	0					NA						c.(442-444)AAA>AAG		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440403T>C																													15.37:g.22440403T>C							p.K148K							1	463	-									Silent	SNP		37	c.444A>G																																																																																				0	0.483									3	17	0	0	0	0.009096	0	3	17				
NDN	4692	broad.mit.edu	37	15	23931868	23931868	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:23931868G>A	ENST00000331837.4	-	1	582	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	166	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGACCAGCGCAAACTCCAT	0.632									Prader-Willi syndrome																														uc001ywk.2		NA																	0					0						c.(496-498)GCG>GTG		necdin							28.0	28.0	28.0					15																	23931868		2203	4300	6503	SO:0001583	missense	4692	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931868G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.497C>T	15.37:g.23931868G>A	ENSP00000332643:p.Ala166Val						p.A166V	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	583	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	166			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.497C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327563	0.41197	.	.	ENSG00000182636	ENST00000331837	T	0.03982	3.74	4.08	3.16	0.36331	.	0.190720	0.38663	N	0.001617	T	0.02047	0.0064	N	0.04116	-0.275	0.20703	N	0.999867	B	0.12630	0.006	B	0.15484	0.013	T	0.47923	-0.9079	10	0.07990	T	0.79	.	8.2949	0.31980	0.1147:0.0:0.8853:0.0	.	166	Q99608	NECD_HUMAN	V	166	ENSP00000332643:A166V	ENSP00000332643:A166V	A	-	2	0	NDN	21482961	0.998000	0.40836	0.675000	0.29917	0.989000	0.77384	3.928000	0.56506	1.017000	0.39495	0.561000	0.74099	GCG		0.632	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		9	28	0	0	0	0.006214	0	9	28				
FAN1	22909	broad.mit.edu	37	15	31197648	31197648	+	Missense_Mutation	SNP	C	C	T	rs137920161	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:31197648C>T	ENST00000362065.4	+	2	1073	c.782C>T	c.(781-783)gCg>gTg	p.A261V	FAN1_ENST00000561607.1_Missense_Mutation_p.A261V|FAN1_ENST00000565466.1_Missense_Mutation_p.A261V|FAN1_ENST00000561594.1_Missense_Mutation_p.A261V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	261					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGATAATGCGATCATGTTA	0.403								Direct reversal of damage																															uc001zff.2		NA																	0					0						c.(781-783)GCG>GTG	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							64.0	62.0	62.0					15																	31197648		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197648C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.782C>T	15.37:g.31197648C>T	ENSP00000354497:p.Ala261Val					MTMR15_uc001zfc.3_Missense_Mutation_p.A261V|MTMR15_uc010azw.2_Missense_Mutation_p.A261V|MTMR15_uc001zfd.3_Missense_Mutation_p.A261V|MTMR15_uc001zfe.2_5'UTR	p.A261V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	1073	+		all_lung(180;2.23e-09)	261					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.782C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377068	0.42105	.	.	ENSG00000198690	ENST00000362065	T	0.44482	0.92	5.06	2.12	0.27331	.	1.121610	0.06450	N	0.727501	T	0.32315	0.0825	M	0.64997	1.995	0.09310	N	1	P;B	0.44659	0.84;0.414	B;B	0.31390	0.129;0.021	T	0.23904	-1.0175	10	0.22706	T	0.39	-4.1469	5.2796	0.15668	0.0:0.4502:0.3199:0.2299	.	261;261	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	V	261	ENSP00000354497:A261V	ENSP00000354497:A261V	A	+	2	0	FAN1	28984940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.488000	0.22371	0.367000	0.24454	-0.820000	0.03113	GCG		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		13	38	0	0	0	0.001855	0	13	38				
RYR3	6263	broad.mit.edu	37	15	33873837	33873837	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:33873837A>T	ENST00000389232.4	+	14	1636	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	RYR3_ENST00000415757.3_Missense_Mutation_p.K522N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	522					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTCTACAAATTGCTGGGTA	0.458																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1564-1566)AAA>AAT		ryanodine receptor 3							110.0	113.0	112.0					15																	33873837		1916	4134	6050	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33873837A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1566A>T	15.37:g.33873837A>T	ENSP00000373884:p.Lys522Asn					RYR3_uc010bar.2_Missense_Mutation_p.K522N	p.K522N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	14	1636	+		all_lung(180;7.18e-09)	522			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1566A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720452	0.30503	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95518	-3.73;-3.73	5.31	-0.99	0.10238	Intracellular calcium-release channel (1);	0.196194	0.43579	D	0.000548	D	0.91466	0.7306	L	0.29908	0.895	0.26946	N	0.966132	B;P	0.40578	0.066;0.722	B;B	0.43990	0.022;0.438	D	0.86232	0.1638	10	0.54805	T	0.06	.	11.4014	0.49873	0.5044:0.0:0.4956:0.0	.	522;522	Q15413-2;Q15413	.;RYR3_HUMAN	N	522	ENSP00000373884:K522N;ENSP00000399610:K522N	ENSP00000354735:K522N	K	+	3	2	RYR3	31661129	0.890000	0.30428	0.109000	0.21407	0.496000	0.33645	0.662000	0.25038	-0.197000	0.10350	0.460000	0.39030	AAA		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	60	0	0	0	0.00308	0	7	60				
GPR176	11245	broad.mit.edu	37	15	40093574	40093574	+	Missense_Mutation	SNP	G	G	A	rs150836804		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:40093574G>A	ENST00000561100.1	-	3	2172	c.1307C>T	c.(1306-1308)cCg>cTg	p.P436L	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.P435L|GPR176_ENST00000543580.1_Missense_Mutation_p.P391L|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	436					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGGGCTGCCGGTGCCACCTG	0.577																																							uc001zkj.1		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1306-1308)CCG>CTG		G protein-coupled receptor 176		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	103.0	108.0	106.0		1307	3.7	0.0	15	dbSNP_134	106	0,8600		0,0,4300	no	missense	GPR176	NM_007223.1	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	436/516	40093574	2,13004	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093574G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1307C>T	15.37:g.40093574G>A	ENSP00000453076:p.Pro436Leu					GPR176_uc010uck.1_Missense_Mutation_p.P376L	p.P436L	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	2173	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	436			Cytoplasmic (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1307C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119304	0.37436	4.54E-4	0.0	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.81415	-1.49	6.17	3.71	0.42584	.	0.215364	0.49916	N	0.000128	T	0.68485	0.3006	N	0.25485	0.75	0.80722	D	1	B	0.27013	0.166	B	0.17433	0.018	T	0.68492	-0.5394	10	0.59425	D	0.04	-0.3716	12.4279	0.55557	0.1807:0.0:0.8193:0.0	.	436	Q14439	GP176_HUMAN	L	436;391	ENSP00000439361:P391L	ENSP00000299092:P436L	P	-	2	0	GPR176	37880866	1.000000	0.71417	0.022000	0.16811	0.966000	0.64601	4.754000	0.62191	1.368000	0.46115	0.655000	0.94253	CCG		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		35	82	0	0	0	0.003755	0	35	82				
EIF2AK4	440275	broad.mit.edu	37	15	40284431	40284431	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:40284431G>A	ENST00000263791.5	+	17	2729		c.e17+1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACCCTTCAGGTAAACCCAGA	0.348																																							uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.e17+1		eukaryotic translation initiation factor 2 alpha							99.0	94.0	95.0					15																	40284431		1805	4077	5882	SO:0001630	splice_region_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40284431G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2686+1G>A	15.37:g.40284431G>A						EIF2AK4_uc010bbj.1_Splice_Site_p.G597_splice|EIF2AK4_uc001zkn.1_5'UTR	p.G896_splice	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	17	2736	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)						C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Splice_Site	SNP	ENST00000263791.5	37	c.2686_splice	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594284	0.66219	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.177	0.72920	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2AK4	38071723	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.310000	0.59141	2.709000	0.92574	0.643000	0.83706	.		0.348	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		Intron	18	37	0	0	0	0.010504	0	18	37				
UBR1	197131	broad.mit.edu	37	15	43378291	43378291	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:43378291A>T	ENST00000290650.4	-	2	307	c.229T>A	c.(229-231)Tac>Aac	p.Y77N	UBR1_ENST00000382177.2_Missense_Mutation_p.Y77N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	77					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCAAATAAGTACCATTCCAGT	0.413																																							uc001zqq.2		NA																	0				lung(1)	1						c.(229-231)TAC>AAC		ubiquitin protein ligase E3 component n-recognin							137.0	135.0	135.0					15																	43378291		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43378291A>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.229T>A	15.37:g.43378291A>T	ENSP00000290650:p.Tyr77Asn					UBR1_uc010udk.1_Missense_Mutation_p.Y77N	p.Y77N	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	2	295	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	77					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.229T>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459490	0.84317	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70749	0.31;-0.51	5.01	5.01	0.66863	.	0.127846	0.56097	D	0.000037	T	0.76905	0.4053	L	0.43923	1.385	0.48185	D	0.999608	D;D	0.69078	0.997;0.991	D;P	0.64776	0.929;0.687	T	0.75622	-0.3254	10	0.34782	T	0.22	-0.6408	15.031	0.71708	1.0:0.0:0.0:0.0	.	77;77	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	77	ENSP00000290650:Y77N;ENSP00000371612:Y77N	ENSP00000290650:Y77N	Y	-	1	0	UBR1	41165583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.542000	0.90647	2.008000	0.58898	0.397000	0.26171	TAC		0.413	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		25	65	0	0	0	0.003954	0	25	65				
MAP1A	4130	broad.mit.edu	37	15	43814596	43814596	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:43814596A>G	ENST00000300231.5	+	4	1375	c.925A>G	c.(925-927)Aag>Gag	p.K309E	MAP1A_ENST00000399453.1_Missense_Mutation_p.K309E|MAP1A_ENST00000382031.1_Missense_Mutation_p.K547E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	309	Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACCAACCTCAAGCCCAGCAA	0.572																																							uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(925-927)AAG>GAG		microtubule-associated protein 1A	Estramustine(DB01196)						41.0	44.0	43.0					15																	43814596		1975	4168	6143	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814596A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.925A>G	15.37:g.43814596A>G	ENSP00000300231:p.Lys309Glu						p.K309E	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	1392	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	309			Lys-rich (basic).		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.925A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763790	0.49574	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.23348	1.91;1.91;1.91	5.07	5.07	0.68467	.	0.000000	0.36101	N	0.002795	T	0.54631	0.1870	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62048	-0.6936	10	0.87932	D	0	-14.258	14.9942	0.71418	1.0:0.0:0.0:0.0	.	309	P78559	MAP1A_HUMAN	E	547;309;309;309	ENSP00000371462:K547E;ENSP00000382380:K309E;ENSP00000300231:K309E	ENSP00000300231:K309E	K	+	1	0	MAP1A	41601888	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.139000	0.94554	2.143000	0.66587	0.459000	0.35465	AAG		0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	32	0	0	0	0.000602	0	4	32				
DUOXA1	90527	broad.mit.edu	37	15	45412380	45412380	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:45412380G>T	ENST00000560572.1	-	5	698	c.693C>A	c.(691-693)acC>acA	p.T231T	DUOXA1_ENST00000558422.1_Silent_p.T186T|DUOXA1_ENST00000430224.2_Silent_p.T186T|DUOXA1_ENST00000267803.4_Silent_p.T231T|DUOXA1_ENST00000558996.1_Silent_p.T186T|DUOXA1_ENST00000559014.1_Silent_p.T231T	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	231					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GACAGGGTGAGGTGAGTGATG	0.562																																							uc001zuq.1		NA																	0				ovary(1)	1						c.(691-693)ACC>ACA		Numb-interacting protein							178.0	165.0	169.0					15																	45412380		2198	4298	6496	SO:0001819	synonymous_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45412380G>T	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.693C>A	15.37:g.45412380G>T						DUOXA1_uc010uem.1_Silent_p.T186T|DUOXA1_uc001zup.2_Silent_p.T231T|DUOXA1_uc010bec.2_Silent_p.T231T|DUOXA1_uc001zur.1_Silent_p.T186T|DUOXA1_uc010bed.1_Silent_p.T186T	p.T231T	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	5	722	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	231			Extracellular (Potential).		Q8N6K9|Q96MI4	Silent	SNP	ENST00000560572.1	37	c.693C>A																																																																																					0.562	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		12	114	1	0	1.05317e-09	0.00245	1.25014e-09	12	114				
FBN1	2200	broad.mit.edu	37	15	48755289	48755289	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:48755289G>A	ENST00000316623.5	-	42	5669	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1738	TB 7.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTACTTGGGATGGGACACT	0.428																																							uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(5212-5214)ATC>ATT		fibrillin 1 precursor							114.0	118.0	117.0					15																	48755289		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48755289G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5214C>T	15.37:g.48755289G>A						FBN1_uc010beo.1_RNA	p.I1738I	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	42	5542	-		all_lung(180;0.00279)	1738			TB 7.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.5214C>T	CCDS32232.1																																																																																				0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			23	92	0	0	0	0.00333	0	23	92				
LDHAL6B	92483	broad.mit.edu	37	15	59499746	59499746	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:59499746C>T	ENST00000307144.4	+	1	705	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	203					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GAGTGCATTTCCCAAAAACCG	0.418																																							uc002agb.2		NA																	0					0						c.(607-609)CCC>TCC		lactate dehydrogenase A-like 6B	NADH(DB00157)						117.0	119.0	118.0					15																	59499746		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499746C>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.607C>T	15.37:g.59499746C>T	ENSP00000302393:p.Pro203Ser					MYO1E_uc002aga.2_Intron	p.P203S	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	705	+			203					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.607C>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.020084	0.54576	.	.	ENSG00000171989	ENST00000307144	D	0.94576	-3.46	1.47	1.47	0.22746	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.172267	0.38663	U	0.001620	D	0.94981	0.8376	M	0.81179	2.53	0.58432	D	0.999999	D	0.63046	0.992	P	0.53518	0.728	D	0.93620	0.6947	10	0.66056	D	0.02	.	8.4578	0.32910	0.0:1.0:0.0:0.0	.	203	Q9BYZ2	LDH6B_HUMAN	S	203	ENSP00000302393:P203S	ENSP00000302393:P203S	P	+	1	0	LDHAL6B	57287038	1.000000	0.71417	0.064000	0.19789	0.268000	0.26511	4.939000	0.63526	0.784000	0.33661	0.305000	0.20034	CCC		0.418	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		34	97	0	0	0	0.002836	0	34	97				
ZNF609	23060	broad.mit.edu	37	15	64792230	64792230	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:64792230G>A	ENST00000326648.3	+	1	740	c.612G>A	c.(610-612)gtG>gtA	p.V204V	ZNF609_ENST00000416172.1_Silent_p.V204V	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	204						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCAGGGGTGGATACAGGAG	0.567																																							uc002ann.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(610-612)GTG>GTA		zinc finger protein 609							81.0	72.0	75.0					15																	64792230		2203	4299	6502	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64792230G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.612G>A	15.37:g.64792230G>A						ZNF609_uc010bgy.2_Silent_p.V204V	p.V204V	NM_015042	NP_055857	O15014	ZN609_HUMAN			1	612	+			204					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.612G>A	CCDS32270.1																																																																																				0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		6	31	0	0	0	0.001168	0	6	31				
THSD4	79875	broad.mit.edu	37	15	71952986	71952986	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:71952986A>G	ENST00000355327.3	+	8	1404	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	THSD4_ENST00000357769.4_Missense_Mutation_p.S64G|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S424G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	424					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCCCTCACCAGCCTGGGCTA	0.542																																							uc002atb.1		NA																	0				ovary(2)	2						c.(1270-1272)AGC>GGC		thrombospondin, type I, domain containing 4							111.0	119.0	116.0					15																	71952986		1971	4149	6120	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952986A>G	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1270A>G	15.37:g.71952986A>G	ENSP00000347484:p.Ser424Gly					THSD4_uc002atd.1_Missense_Mutation_p.S98G|THSD4_uc010ukg.1_Missense_Mutation_p.S64G|THSD4_uc002ate.2_Missense_Mutation_p.S64G	p.S424G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			7	1349	+			424					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1270A>G	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	A	15.04	2.716428	0.48622	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.70399	-0.48;-0.48;0.67	4.77	4.77	0.60923	ADAM-TS Spacer 1 (1);	0.362544	0.31347	N	0.007806	T	0.52581	0.1743	N	0.10733	0.035	0.27419	N	0.95433	P;B;P;B	0.39576	0.679;0.27;0.628;0.27	B;B;B;B	0.41946	0.371;0.096;0.137;0.136	T	0.49523	-0.8931	10	0.25751	T	0.34	.	12.5545	0.56246	1.0:0.0:0.0:0.0	.	64;64;424;424	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	G	424;424;64;64	ENSP00000347484:S424G;ENSP00000261862:S424G;ENSP00000350413:S64G	ENSP00000261862:S424G	S	+	1	0	THSD4	69740040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.744000	0.68664	1.915000	0.55452	0.533000	0.62120	AGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		9	76	0	0	0	0.004482	0	9	76				
PARP6	56965	broad.mit.edu	37	15	72553991	72553991	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:72553991C>A	ENST00000569795.1	-	9	1140	c.453G>T	c.(451-453)aaG>aaT	p.K151N	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.K151N|PARP6_ENST00000287196.9_Missense_Mutation_p.K151N			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	151							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCTGCTGGGTCTTCAAGAAAT	0.483																																							uc002auc.2		NA																	0					0						c.(451-453)AAG>AAT		poly (ADP-ribose) polymerase family, member 6							356.0	339.0	345.0					15																	72553991		1949	4154	6103	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72553991C>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.453G>T	15.37:g.72553991C>A	ENSP00000456348:p.Lys151Asn					PARP6_uc002aua.2_Missense_Mutation_p.K16N|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.K151N	p.K151N	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			8	912	-			151					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.453G>T	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	c	8.018	0.758951	0.15846	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.66	3.74	0.42951	.	0.160328	0.53938	D	0.000044	T	0.16727	0.0402	N	0.08118	0	0.25903	N	0.98334	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.18147	-1.0346	9	0.19147	T	0.46	-29.5656	8.4627	0.32938	0.0:0.642:0.2745:0.0834	.	151;151;103	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	N	151;151;151;16;16;151	.	ENSP00000260376:K151N	K	-	3	2	PARP6	70341045	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	2.512000	0.45485	1.101000	0.41535	-0.294000	0.09567	AAG		0.483	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		46	301	1	0	8.00217e-19	0.00361	1.02099e-18	46	301				
ARIH1	25820	broad.mit.edu	37	15	72873113	72873113	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:72873113T>C	ENST00000379887.4	+	12	1571	c.1257T>C	c.(1255-1257)aaT>aaC	p.N419N	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	419					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TCTACTGTAATCGCTATATGA	0.433																																							uc002aut.3		NA																	0					0						c.(1255-1257)AAT>AAC		ariadne ubiquitin-conjugating enzyme E2 binding							91.0	74.0	80.0					15																	72873113		2198	4297	6495	SO:0001819	synonymous_variant	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72873113T>C	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1257T>C	15.37:g.72873113T>C							p.N419N	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			12	1571	+			419					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	c.1257T>C	CCDS10244.1																																																																																				0.433	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		11	25	0	0	0	0.000978	0	11	25				
ADPGK	83440	broad.mit.edu	37	15	73048687	73048687	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:73048687T>C	ENST00000311669.8	-	5	838	c.745A>G	c.(745-747)Agc>Ggc	p.S249G	ADPGK_ENST00000456471.2_5'Flank|ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	249	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCCTCCAGGCTAGACACAAAC	0.537																																							uc002avg.3		NA																	0					0						c.(745-747)AGC>GGC		ADP-dependent glucokinase							98.0	96.0	96.0					15																	73048687		1900	4140	6040	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73048687T>C	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.745A>G	15.37:g.73048687T>C	ENSP00000312250:p.Ser249Gly					ADPGK_uc002ave.3_5'UTR|ADPGK_uc010ukw.1_Missense_Mutation_p.S191G|ADPGK_uc002avf.3_Missense_Mutation_p.S249G|ADPGK_uc002avi.3_Missense_Mutation_p.S127G|ADPGK_uc002avh.3_Missense_Mutation_p.S10G	p.S249G	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN			5	839	-			249			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.745A>G	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	t	29.9	5.045582	0.93685	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000331065	T	0.46819	0.86	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.69823	2.125	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.967	P;D;P	0.63192	0.882;0.912;0.74	T	0.62388	-0.6865	10	0.27082	T	0.32	-22.0751	15.5292	0.75942	0.0:0.0:0.0:1.0	.	191;249;249	B4DG35;Q9BRR6;Q9BRR6-2	.;ADPGK_HUMAN;.	G	249;168;127	ENSP00000312250:S249G	ENSP00000312250:S249G	S	-	1	0	ADPGK	70835740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.942000	0.87708	2.071000	0.62044	0.533000	0.62120	AGC		0.537	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		13	66	0	0	0	0.001368	0	13	66				
CLK3	1198	broad.mit.edu	37	15	74919983	74919983	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:74919983A>G	ENST00000395066.3	+	9	1921	c.1460A>G	c.(1459-1461)cAc>cGc	p.H487R	CLK3_ENST00000352989.5_Missense_Mutation_p.H316R|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.H339R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCACCCGTCACTATCGCCCG	0.547																																					Ovarian(133;694 1754 28950 29027 31859)	Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NA																	0				stomach(2)	2						c.(1459-1461)CAC>CGC		CDC-like kinase 3 isoform a							207.0	171.0	183.0					15																	74919983		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74919983A>G	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1460A>G	15.37:g.74919983A>G	ENSP00000378505:p.His487Arg					CLK3_uc002ayg.3_Missense_Mutation_p.H339R|CLK3_uc002ayh.3_Missense_Mutation_p.H118R|CLK3_uc002ayj.3_Missense_Mutation_p.H316R|CLK3_uc002ayk.3_Missense_Mutation_p.H266R|CLK3_uc002ayl.3_Missense_Mutation_p.H172R	p.H487R	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			9	1921	+			487			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1460A>G	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873644	0.91664	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.63417	-0.04;-0.04	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.68952	2.095	0.80722	D	1	D;D;D;P	0.76494	0.979;0.998;0.999;0.918	D;D;D;P	0.75020	0.978;0.966;0.985;0.882	T	0.79971	-0.1578	10	0.87932	D	0	.	15.4674	0.75412	1.0:0.0:0.0:0.0	.	487;192;266;316	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	R	339;339;487;316	ENSP00000344112:H339R;ENSP00000323106:H316R	ENSP00000344112:H339R	H	+	2	0	CLK3	72707036	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.386000	0.79775	2.142000	0.66516	0.459000	0.35465	CAC		0.547	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			24	94	0	0	0	0.005443	0	24	94				
MESP2	145873	broad.mit.edu	37	15	90319996	90319996	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:90319996G>A	ENST00000341735.3	+	1	408	c.408G>A	c.(406-408)tcG>tcA	p.S136S	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	136					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCCACCTATCGGCCGTGCTGG	0.721																																							uc002bon.2		NA																	0					0						c.(406-408)TCG>TCA		mesoderm posterior 2 homolog							7.0	9.0	9.0					15																	90319996		2095	4189	6284	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90319996G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.408G>A	15.37:g.90319996G>A						MESP2_uc010uqa.1_Intron	p.S136S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	408	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		136			Helix-loop-helix motif.		Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.408G>A	CCDS42078.1																																																																																				0.721	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		8	9	0	0	0	0.008291	0	8	9				
IQGAP1	8826	broad.mit.edu	37	15	91035793	91035793	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:91035793G>T	ENST00000268182.5	+	35	4602	c.4478G>T	c.(4477-4479)cGg>cTg	p.R1493L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R921L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1493	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGGAATCAGCGGAGGTACCGA	0.428																																							uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(4477-4479)CGG>CTG		IQ motif containing GTPase activating protein 1							77.0	73.0	75.0					15																	91035793		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91035793G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4478G>T	15.37:g.91035793G>T	ENSP00000268182:p.Arg1493Leu					IQGAP1_uc010uqg.1_Missense_Mutation_p.R114L	p.R1493L	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		35	4579	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1493			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4478G>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396608	0.96009	.	.	ENSG00000140575	ENST00000268182	T	0.47177	0.85	6.07	6.07	0.98685	RasGAP protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	T	0.72411	-0.4302	10	0.48119	T	0.1	-28.4548	19.632	0.95713	0.0:0.0:1.0:0.0	.	114;1493	B4DNP4;P46940	.;IQGA1_HUMAN	L	1493	ENSP00000268182:R1493L	ENSP00000268182:R1493L	R	+	2	0	IQGAP1	88836797	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.748000	0.98867	2.890000	0.99128	0.650000	0.86243	CGG		0.428	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		14	18	1	0	4.3838e-07	0.001855	4.96219e-07	14	18				
IQGAP1	8826	broad.mit.edu	37	15	91038012	91038012	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:91038012G>A	ENST00000268182.5	+	36	4820	c.4696G>A	c.(4696-4698)Gca>Aca	p.A1566T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A994T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1566	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATATACAGCAGCAAGACTACA	0.333																																							uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(4696-4698)GCA>ACA		IQ motif containing GTPase activating protein 1							144.0	149.0	147.0					15																	91038012		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91038012G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4696G>A	15.37:g.91038012G>A	ENSP00000268182:p.Ala1566Thr					IQGAP1_uc010uqg.1_Missense_Mutation_p.A187T	p.A1566T	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		36	4797	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1566			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4696G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849352	0.71603	.	.	ENSG00000140575	ENST00000268182	T	0.46819	0.86	5.77	5.77	0.91146	RasGAP protein, C-terminal (1);	0.105225	0.64402	D	0.000003	T	0.60919	0.2306	L	0.60957	1.885	0.80722	D	1	P;P	0.40909	0.665;0.732	P;P	0.53313	0.723;0.576	T	0.48581	-0.9023	10	0.24483	T	0.36	-16.3532	19.335	0.94312	0.0:0.0:1.0:0.0	.	187;1566	B4DNP4;P46940	.;IQGA1_HUMAN	T	1566	ENSP00000268182:A1566T	ENSP00000268182:A1566T	A	+	1	0	IQGAP1	88839016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.468000	0.60162	2.890000	0.99128	0.650000	0.86243	GCA		0.333	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		13	78	0	0	0	0.003163	0	13	78				
LRRK1	79705	broad.mit.edu	37	15	101606267	101606267	+	Silent	SNP	C	C	T	rs376376580		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:101606267C>T	ENST00000388948.3	+	32	5984	c.5625C>T	c.(5623-5625)tgC>tgT	p.C1875C	LRRK1_ENST00000284395.5_Silent_p.C1872C|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACCGACTGCGAGGACTCAG	0.642																																							uc002bwr.2		NA																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(5623-5625)TGC>TGT		leucine-rich repeat kinase 1		C		0,4300		0,0,2150	102.0	110.0	107.0		5625	-11.2	0.0	15		107	1,8521		0,1,4260	no	coding-synonymous	LRRK1	NM_024652.3		0,1,6410	TT,TC,CC		0.0117,0.0,0.0078		1875/2016	101606267	1,12821	2150	4261	6411	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606267C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5625C>T	15.37:g.101606267C>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.C1875C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		32	5944	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1875						Silent	SNP	ENST00000388948.3	37	c.5625C>T	CCDS42086.1																																																																																				0.642	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		10	83	0	0	0	0.008291	0	10	83				
AXIN1	8312	broad.mit.edu	37	16	347134	347134	+	Missense_Mutation	SNP	G	G	A	rs200996293		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:347134G>A	ENST00000262320.3	-	7	2248	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	AXIN1_ENST00000354866.3_Missense_Mutation_p.A626V|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	626	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTTCTTCTCCGCATCCTCCGA	0.617																																							uc002cgp.1		NA																	0				breast(1)|liver(1)	2						c.(1876-1878)GCG>GTG		axin 1 isoform a							238.0	223.0	228.0					16																	347134		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347134G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1877C>T	16.37:g.347134G>A	ENSP00000262320:p.Ala626Val					AXIN1_uc002cgq.1_Missense_Mutation_p.A626V	p.A626V	NM_003502	NP_003493	O15169	AXIN1_HUMAN			7	2054	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	626			Interaction with RNF111.|Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1877C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786194	0.31593	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.59906	0.25;0.23	4.98	2.25	0.28309	.	0.471664	0.26286	N	0.025250	T	0.38081	0.1027	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.17077	-1.0381	10	0.09084	T	0.74	-20.595	7.9261	0.29876	0.382:0.0:0.618:0.0	.	626;626	O15169-2;O15169	.;AXIN1_HUMAN	V	626	ENSP00000262320:A626V;ENSP00000346935:A626V	ENSP00000262320:A626V	A	-	2	0	AXIN1	287135	0.002000	0.14202	0.007000	0.13788	0.078000	0.17371	1.710000	0.37920	0.851000	0.35264	0.478000	0.44815	GCG		0.617	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			39	191	0	0	0	0.00874	0	39	191				
BRICD5	283870	broad.mit.edu	37	16	2260194	2260194	+	Missense_Mutation	SNP	G	G	A	rs201898997		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:2260194G>A	ENST00000562360.1	-	3	268	c.269C>T	c.(268-270)gCg>gTg	p.A90V	BRICD5_ENST00000328540.3_Missense_Mutation_p.A90V|BRICD5_ENST00000566018.1_Missense_Mutation_p.A90V|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	90						integral component of membrane (GO:0016021)											GATGGTCGCCGCGTTCCGGGC	0.677																																							uc010bsh.2		NA																	0				central_nervous_system(1)	1						c.(268-270)GCG>GTG		hypothetical protein LOC283870							46.0	38.0	40.0					16																	2260194		2188	4296	6484	SO:0001583	missense	283870					integral to membrane		g.chr16:2260194G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.269C>T	16.37:g.2260194G>A	ENSP00000455052:p.Ala90Val					C16orf79_uc002cpi.1_Missense_Mutation_p.A90V	p.A90V	NM_182563	NP_872369	Q6PL45	CP079_HUMAN			3	446	-			90					C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.269C>T	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162751	0.01673	.	.	ENSG00000182685	ENST00000328540	T	0.20738	2.05	5.55	-1.29	0.09288	.	1.432180	0.04046	N	0.303990	T	0.09113	0.0225	N	0.04203	-0.255	0.09310	N	1	B;B	0.18166	0.026;0.004	B;B	0.06405	0.001;0.002	T	0.30387	-0.9980	10	0.02654	T	1	-0.1342	11.0939	0.48132	0.3822:0.0:0.6178:0.0	.	90;90	Q6PL45;Q6PL45-2	CP079_HUMAN;.	V	90	ENSP00000332389:A90V	ENSP00000332389:A90V	A	-	2	0	C16orf79	2200195	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.053000	0.14184	-0.133000	0.11537	0.561000	0.74099	GCG		0.677	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		3	7	0	0	0	0.004672	0	3	7				
PKMYT1	9088	broad.mit.edu	37	16	3025598	3025598	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3025598A>G	ENST00000262300.8	-	4	1102	c.594T>C	c.(592-594)tgT>tgC	p.C198C	PKMYT1_ENST00000574730.1_Silent_p.C129C|PKMYT1_ENST00000440027.2_Silent_p.C198C|PKMYT1_ENST00000574385.1_Silent_p.C189C|PKMYT1_ENST00000573944.1_Silent_p.C189C|PKMYT1_ENST00000431515.2_Silent_p.C198C	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCAGGCCTCACAGTGTTGCT	0.706																																							uc002csn.2		NA																	0				stomach(1)	1						c.(592-594)TGT>TGC		protein kinase Myt1 isoform 1							26.0	26.0	26.0					16																	3025598		2198	4298	6496	SO:0001819	synonymous_variant	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3025598A>G	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.594T>C	16.37:g.3025598A>G						PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.C198C|PKMYT1_uc002cso.2_Silent_p.C129C|PKMYT1_uc002csp.2_Silent_p.C189C|PKMYT1_uc002csq.2_Silent_p.C189C|PKMYT1_uc010bsy.1_Silent_p.C189C	p.C198C	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			4	1037	-			198			Protein kinase.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	c.594T>C	CCDS10486.1																																																																																				0.706	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		6	14	0	0	0	0.001168	0	6	14				
ZNF75A	7627	broad.mit.edu	37	16	3363159	3363159	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3363159G>A	ENST00000574298.1	+	4	557	c.84G>A	c.(82-84)gaG>gaA	p.E28E	ZNF75A_ENST00000498240.2_Intron	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAACTATGAGACTGTCATCT	0.428																																							uc002cut.3		NA																	0				breast(1)	1						c.(82-84)GAG>GAA		zinc finger protein 75a							128.0	114.0	119.0					16																	3363159		2197	4300	6497	SO:0001819	synonymous_variant	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3363159G>A	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.84G>A	16.37:g.3363159G>A						ZNF75A_uc002cuv.3_Intron	p.E28E	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			4	610	+			28			KRAB.		Q0VDI8|Q92669	Silent	SNP	ENST00000574298.1	37	c.84G>A	CCDS10501.1																																																																																				0.428	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		13	36	0	0	0	0.00245	0	13	36				
CREBBP	1387	broad.mit.edu	37	16	3777990	3777990	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3777990C>A	ENST00000262367.5	-	31	7867	c.7058G>T	c.(7057-7059)cGg>cTg	p.R2353L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2315L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2353					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGGGGCCGTGGAGACTG	0.657			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(7057-7059)CGG>CTG		CREB binding protein isoform a							83.0	82.0	83.0					16																	3777990		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777990C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7058G>T	16.37:g.3777990C>A	ENSP00000262367:p.Arg2353Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.R2315L	p.R2353L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7262	-		Ovarian(90;0.0266)	2353					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.7058G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.414422	0.42817	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.86230	-2.09;-2.03	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	D	0.90021	0.6884	L	0.32530	0.975	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74023	0.982;0.982	D	0.89276	0.3608	10	0.40728	T	0.16	-29.1302	18.4233	0.90598	0.0:1.0:0.0:0.0	.	2383;2353	Q4LE28;Q92793	.;CBP_HUMAN	L	2353;2383;2315;888	ENSP00000262367:R2353L;ENSP00000371502:R2315L	ENSP00000262367:R2353L	R	-	2	0	CREBBP	3717991	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.692000	0.84203	2.668000	0.90789	0.655000	0.94253	CGG		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		27	67	1	0	1.55811e-20	0.008361	2.00859e-20	27	67				
PPL	5493	broad.mit.edu	37	16	4941903	4941903	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:4941903T>C	ENST00000345988.2	-	16	1966	c.1877A>G	c.(1876-1878)gAg>gGg	p.E626G	PPL_ENST00000590782.2_Missense_Mutation_p.E624G	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	626					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGCCAGCAACTCCCAGCTCTG	0.627																																							uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1876-1878)GAG>GGG		periplakin							104.0	101.0	102.0					16																	4941903		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4941903T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1877A>G	16.37:g.4941903T>C	ENSP00000340510:p.Glu626Gly						p.E626G	NM_002705	NP_002696	O60437	PEPL_HUMAN			16	1967	-			626			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1877A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496188	0.44352	.	.	ENSG00000118898	ENST00000345988	T	0.23552	1.9	5.35	4.24	0.50183	.	0.351275	0.30109	N	0.010400	T	0.26557	0.0649	L	0.60455	1.87	0.31246	N	0.694619	P	0.46395	0.877	B	0.40741	0.339	T	0.28744	-1.0034	10	0.49607	T	0.09	.	11.6073	0.51039	0.1335:0.0:0.0:0.8665	.	626	O60437	PEPL_HUMAN	G	626	ENSP00000340510:E626G	ENSP00000340510:E626G	E	-	2	0	PPL	4881904	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	2.977000	0.49297	0.856000	0.35383	-0.524000	0.04348	GAG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		10	124	0	0	0	0.008291	0	10	124				
ABCC1	4363	broad.mit.edu	37	16	16215926	16215926	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:16215926T>C	ENST00000399410.3	+	24	3660	c.3485T>C	c.(3484-3486)gTc>gCc	p.V1162A	ABCC1_ENST00000399408.2_Missense_Mutation_p.V1172A|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1162A|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1106A|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1103A|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1047A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1162	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTGCTGGGGGTCAGCGTCATT	0.612																																							uc010bvi.2		NA																	0				ovary(4)	4						c.(3484-3486)GTC>GCC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						50.0	55.0	54.0					16																	16215926		2181	4293	6474	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215926T>C	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3485T>C	16.37:g.16215926T>C	ENSP00000382342:p.Val1162Ala					ABCC1_uc010bvj.2_Missense_Mutation_p.V1103A|ABCC1_uc010bvk.2_Missense_Mutation_p.V1106A|ABCC1_uc010bvl.2_Missense_Mutation_p.V1162A|ABCC1_uc010bvm.2_Missense_Mutation_p.V1047A|ABCC1_uc002del.3_Missense_Mutation_p.V1056A	p.V1162A	NM_004996	NP_004987	P33527	MRP1_HUMAN			24	3660	+			1162			Cytoplasmic.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3485T>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	9.694	1.152567	0.21371	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.36	5.36	0.76844	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.234953	0.44483	D	0.000449	T	0.79787	0.4506	N	0.12527	0.23	0.31907	N	0.615195	B;B;B;P;B;P	0.39831	0.003;0.028;0.363;0.69;0.416;0.516	B;B;B;B;P;B	0.46208	0.017;0.02;0.373;0.439;0.507;0.373	T	0.76924	-0.2779	10	0.06099	T	0.92	-49.0011	9.1072	0.36705	0.0:0.0815:0.0:0.9185	.	1047;1162;1106;1103;1162;1172	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	A	1162;1172;1106;1103;1162;1047;846	ENSP00000382342:V1162A;ENSP00000382340:V1172A;ENSP00000263019:V1106A;ENSP00000263017:V1103A;ENSP00000263014:V1162A;ENSP00000263016:V1047A	ENSP00000263014:V1162A	V	+	2	0	ABCC1	16123427	1.000000	0.71417	0.996000	0.52242	0.737000	0.42083	2.752000	0.47516	2.030000	0.59900	0.459000	0.35465	GTC		0.612	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		13	42	0	0	0	0.001368	0	13	42				
XYLT1	64131	broad.mit.edu	37	16	17353197	17353197	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:17353197A>G	ENST00000261381.6	-	3	645	c.561T>C	c.(559-561)agT>agC	p.S187S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	187					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTTCTGTCTACTCGGTGGCT	0.537																																							uc002dfa.2		NA																	0				ovary(4)	4						c.(559-561)AGT>AGC		xylosyltransferase I							129.0	129.0	129.0					16																	17353197		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353197A>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.561T>C	16.37:g.17353197A>G							p.S187S	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	646	-			187			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.561T>C	CCDS10569.1																																																																																				0.537	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		31	93	0	0	0	0.002096	0	31	93				
GPR139	124274	broad.mit.edu	37	16	20043764	20043764	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:20043764T>C	ENST00000570682.1	-	2	655	c.355A>G	c.(355-357)Act>Gct	p.T119A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	119					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AACGGTACAGTAATCCATATG	0.493																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(355-357)ACT>GCT		G protein-coupled receptor 139							143.0	117.0	125.0					16																	20043764		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043764T>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.355A>G	16.37:g.20043764T>C	ENSP00000458791:p.Thr119Ala					GPR139_uc010vaw.1_Missense_Mutation_p.T26A	p.T119A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	517	-			119			Helical; Name=3; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.355A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214559	0.39102	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	N	0.20986	0.625	0.58432	D	0.999998	P	0.39903	0.694	P	0.45610	0.487	T	0.54227	-0.8325	9	0.44086	T	0.13	-31.5618	15.1985	0.73116	0.0:0.0:0.0:1.0	.	119	Q6DWJ6	GP139_HUMAN	A	119	.	ENSP00000370779:T119A	T	-	1	0	GPR139	19951265	1.000000	0.71417	0.741000	0.31004	0.552000	0.35366	7.698000	0.84413	2.186000	0.69663	0.533000	0.62120	ACT		0.493	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		7	87	0	0	0	0.001984	0	7	87				
PDILT	204474	broad.mit.edu	37	16	20386170	20386170	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:20386170G>C	ENST00000302451.4	-	5	903	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	219					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACGCTGTCAAGGGTGACGTGG	0.438																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(655-657)CTT>GTT		protein disulfide isomerase-like, testis							172.0	150.0	158.0					16																	20386170		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386170G>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.655C>G	16.37:g.20386170G>C	ENSP00000305465:p.Leu219Val						p.L219V	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			5	878	-			219					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.655C>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211761	0.22289	.	.	ENSG00000169340	ENST00000302451	T	0.22134	1.97	4.71	2.6	0.31112	Thioredoxin-like fold (2);	0.642220	0.15957	N	0.236426	T	0.22898	0.0553	M	0.68317	2.08	0.09310	N	1	P	0.40909	0.732	B	0.43331	0.416	T	0.07252	-1.0782	10	0.29301	T	0.29	.	5.3057	0.15803	0.1002:0.0:0.6082:0.2916	.	219	Q8N807	PDILT_HUMAN	V	219	ENSP00000305465:L219V	ENSP00000305465:L219V	L	-	1	0	PDILT	20293671	0.599000	0.26891	0.109000	0.21407	0.065000	0.16274	1.409000	0.34680	1.336000	0.45506	0.655000	0.94253	CTT		0.438	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		21	82	0	0	0	0.002299	0	21	82				
ACSM5	54988	broad.mit.edu	37	16	20442632	20442632	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:20442632A>G	ENST00000331849.4	+	10	1444	c.1297A>G	c.(1297-1299)Aat>Gat	p.N433D		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	433					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGTTTCTTCAATTGCTATTT	0.478																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(1297-1299)AAT>GAT		acyl-CoA synthetase medium-chain family member 5							136.0	120.0	125.0					16																	20442632		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442632A>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1297A>G	16.37:g.20442632A>G	ENSP00000327916:p.Asn433Asp						p.N433D	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1444	+			433					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1297A>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766551	0.31228	.	.	ENSG00000183549	ENST00000331849	T	0.40225	1.04	4.37	0.227	0.15359	AMP-dependent synthetase/ligase (1);	0.407810	0.20205	N	0.097009	T	0.22513	0.0543	N	0.17594	0.5	0.20403	N	0.999901	B	0.22851	0.076	B	0.29440	0.102	T	0.15665	-1.0429	10	0.28530	T	0.3	-3.3706	5.1188	0.14849	0.4611:0.2671:0.0:0.2718	.	433	Q6NUN0	ACSM5_HUMAN	D	433	ENSP00000327916:N433D	ENSP00000327916:N433D	N	+	1	0	ACSM5	20350133	0.010000	0.17322	0.488000	0.27440	0.989000	0.77384	0.051000	0.14141	0.128000	0.18479	0.528000	0.53228	AAT		0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		17	65	0	0	0	0.008871	0	17	65				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																							uc010vbl.1		NA																	0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		5	15	0	0	0	0.000602	0	5	15				
EEF2K	29904	broad.mit.edu	37	16	22277709	22277709	+	Splice_Site	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:22277709A>C	ENST00000263026.5	+	14	1914		c.e14-1			NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CTTTCCCTTCAGGTATGTGTA	0.612																																					NSCLC(195;1411 2157 20319 27471 51856)	NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	0				large_intestine(1)	1						c.e14-2		elongation factor-2 kinase							140.0	144.0	143.0					16																	22277709		2197	4300	6497	SO:0001630	splice_region_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22277709A>C	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1441-1A>C	16.37:g.22277709A>C						EEF2K_uc002dkh.2_Splice_Site	p.V481_splice	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	14	1926	+								Q8N588	Splice_Site	SNP	ENST00000263026.5	37	c.1441_splice	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429229	0.43122	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEF2K	22185210	1.000000	0.71417	0.977000	0.42913	0.163000	0.22366	7.765000	0.85310	2.191000	0.70037	0.533000	0.62120	.		0.612	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	Intron	15	171	0	0	0	0.004007	0	15	171				
USP31	57478	broad.mit.edu	37	16	23096295	23096295	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:23096295A>G	ENST00000219689.7	-	11	1715	c.1716T>C	c.(1714-1716)acT>acC	p.T572T		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACTCATCCTCAGTATTTACAA	0.408																																							uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1714-1716)ACT>ACC		ubiquitin specific peptidase 31							220.0	218.0	218.0					16																	23096295		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23096295A>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1716T>C	16.37:g.23096295A>G						USP31_uc010bxm.2_5'UTR	p.T572T	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	11	1716	-			572					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.1716T>C	CCDS10607.1																																																																																				0.408	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		43	190	0	0	0	0.00361	0	43	190				
PLK1	5347	broad.mit.edu	37	16	23693478	23693479	+	Splice_Site	DNP	GG	GG	TT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:23693478_23693479GG>TT	ENST00000300093.4	+	4	927	c.816_816GG>TT	c.(814-816)aaGG>aaTTg	p.K272N		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GTATTCCCAAGGTGACTAATGA	0.411																																					Colon(12;240 564 27038 33155)	Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	0				lung(1)|skin(1)	2						c.e4+1		polo-like kinase 1																																				SO:0001630	splice_region_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23693478_23693479GG>TT		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	Exception_encountered	16.37:g.23693478_23693479delinsTT							p.K272_splice	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	869	+								Q15153|Q99746	Splice_Site	DNP	ENST00000300093.4	37	c.816_splice	CCDS10616.1																																																																																				0.411	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	Missense_Mutation	10	56	0	0	0	0.004672	0	10	56				
SETD1A	9739	broad.mit.edu	37	16	30976134	30976134	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:30976134T>C	ENST00000262519.8	+	7	1757	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	357	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cctcgtcctcTCAGTTTCGTA	0.592																																							uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(1069-1071)TCT>TCC		SET domain containing 1A							219.0	181.0	194.0					16																	30976134		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976134T>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1071T>C	16.37:g.30976134T>C							p.S357S	NM_014712	NP_055527	O15047	SET1A_HUMAN			7	1757	+			357			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.1071T>C	CCDS32435.1																																																																																				0.592	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		54	151	0	0	0	0.00361	0	54	151				
PYCARD	29108	broad.mit.edu	37	16	31213972	31213972	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:31213972T>C	ENST00000247470.9	-	1	341	c.40A>G	c.(40-42)Aac>Gac	p.N14D	C16orf98_ENST00000561916.2_Silent_p.V66V|PYCARD_ENST00000350605.4_Missense_Mutation_p.N14D	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	14	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GCGGTCAGGTTCTCCAGCGCA	0.716																																							uc010cak.2		NA																	0					0						c.(40-42)AAC>GAC		PYD and CARD domain containing isoform a							36.0	36.0	36.0					16																	31213972		2196	4298	6494	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213972T>C	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.40A>G	16.37:g.31213972T>C	ENSP00000247470:p.Asn14Asp					PYCARD_uc002ebm.2_Missense_Mutation_p.N14D	p.N14D	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN			1	280	-			14			DAPIN.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.40A>G	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635758	0.47049	.	.	ENSG00000103490	ENST00000350605;ENST00000247470;ENST00000355986	T;T	0.41758	0.99;0.99	4.72	1.11	0.20524	Pyrin (2);DEATH-like (2);	0.304262	0.28538	N	0.014994	T	0.29491	0.0735	N	0.25426	0.745	0.80722	D	1	B;B	0.32526	0.374;0.212	B;B	0.43728	0.429;0.225	T	0.07539	-1.0767	10	0.15499	T	0.54	.	3.4139	0.07368	0.1671:0.1905:0.0:0.6424	.	14;14	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	D	14	ENSP00000340441:N14D;ENSP00000247470:N14D	ENSP00000247470:N14D	N	-	1	0	PYCARD	31121473	0.754000	0.28360	0.988000	0.46212	0.930000	0.56654	-0.016000	0.12613	-0.023000	0.13963	-0.314000	0.08810	AAC		0.716	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		14	50	0	0	0	0.003163	0	14	50				
TOX3	27324	broad.mit.edu	37	16	52484375	52484375	+	Silent	SNP	C	C	T	rs557072773		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:52484375C>T	ENST00000219746.9	-	4	776	c.492G>A	c.(490-492)gcG>gcA	p.A164A	TOX3_ENST00000407228.3_Silent_p.A159A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	164					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCCAGAACGCGCAGCATCGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.001						uc002egw.2		NA																	0					0						c.(490-492)GCG>GCA		TOX high mobility group box family member 3							131.0	137.0	135.0					16																	52484375		2130	4234	6364	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484375C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.492G>A	16.37:g.52484375C>T						TOX3_uc010vgt.1_Silent_p.A159A|TOX3_uc010vgu.1_Silent_p.A164A	p.A164A	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			4	663	-			164					B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.492G>A	CCDS54009.1																																																																																				0.582	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		31	118	0	0	0	0.002445	0	31	118				
MMP2	4313	broad.mit.edu	37	16	55532222	55532222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:55532222C>A	ENST00000219070.4	+	11	2140	c.1631C>A	c.(1630-1632)tCa>tAa	p.S544*	MMP2_ENST00000437642.2_Nonsense_Mutation_p.S494*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.S468*|MMP2_ENST00000570308.1_Nonsense_Mutation_p.S468*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	544	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGATCTACTCAGCCAGCACC	0.587																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1630-1632)TCA>TAA		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						90.0	75.0	80.0					16																	55532222		2198	4300	6498	SO:0001587	stop_gained	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55532222C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1631C>A	16.37:g.55532222C>A	ENSP00000219070:p.Ser544*					MMP2_uc010vhd.1_Nonsense_Mutation_p.S468*|MMP2_uc010ccc.2_Nonsense_Mutation_p.S494*|MMP2_uc002eia.3_Nonsense_Mutation_p.S41*	p.S544*	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	11	1942	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	544			Required for inhibitor TIMP2 binding.|Hemopexin-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation	SNP	ENST00000219070.4	37	c.1631C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	39	7.510181	0.98329	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	.	.	.	6.07	6.07	0.98685	.	0.411964	0.27384	N	0.019620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	.	.	.	X	544;468;494	.	ENSP00000219070:S544X	S	+	2	0	MMP2	54089723	0.553000	0.26513	1.000000	0.80357	0.992000	0.81027	2.305000	0.43664	2.884000	0.98904	0.655000	0.94253	TCA		0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			17	40	1	0	9.16793e-09	0.00499	1.06787e-08	17	40				
SLC6A2	6530	broad.mit.edu	37	16	55690629	55690629	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:55690629C>T	ENST00000379906.2	+	1	278	c.23C>T	c.(22-24)cCg>cTg	p.P8L	SLC6A2_ENST00000568943.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000219833.8_Missense_Mutation_p.P8L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.P8L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	8					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGATGAACCCGCAGGTGCAG	0.652																																							uc002eif.2		NA																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(22-24)CCG>CTG		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						28.0	32.0	31.0					16																	55690629		2196	4294	6490	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55690629C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.23C>T	16.37:g.55690629C>T	ENSP00000369237:p.Pro8Leu					SLC6A2_uc010ccd.2_Missense_Mutation_p.P8L|SLC6A2_uc002eig.2_Missense_Mutation_p.P8L|SLC6A2_uc002eih.2_Missense_Mutation_p.P8L	p.P8L	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	2	134	+			8			Cytoplasmic (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.23C>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550315	0.45383	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73363	-0.74;-0.67;-0.68	5.27	5.27	0.74061	.	1.172940	0.05841	N	0.619370	T	0.66137	0.2759	N	0.19112	0.55	0.45015	D	0.998038	B;B	0.19706	0.038;0.038	B;B	0.14023	0.01;0.01	T	0.42816	-0.9429	10	0.56958	D	0.05	.	13.8408	0.63437	0.1626:0.8374:0.0:0.0	.	8;8	Q96KH8;P23975	.;SC6A2_HUMAN	L	8	ENSP00000394956:P8L;ENSP00000369237:P8L;ENSP00000219833:P8L	ENSP00000219833:P8L	P	+	2	0	SLC6A2	54248130	0.831000	0.29352	1.000000	0.80357	0.996000	0.88848	2.587000	0.46128	2.620000	0.88729	0.563000	0.77884	CCG		0.652	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			13	34	0	0	0	0.003163	0	13	34				
CDH11	1009	broad.mit.edu	37	16	65022183	65022183	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:65022183A>G	ENST00000268603.4	-	7	1491	c.876T>C	c.(874-876)gcT>gcC	p.A292A	CDH11_ENST00000394156.3_Silent_p.A292A|CDH11_ENST00000566827.1_Silent_p.A166A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	292	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGGATCTTTAGCTTTCACTC	0.408			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(874-876)GCT>GCC		cadherin 11, type 2 preproprotein							238.0	212.0	221.0					16																	65022183		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022183A>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.876T>C	16.37:g.65022183A>G		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.A292A|CDH11_uc010vin.1_Silent_p.A166A	p.A292A	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1310	-		Ovarian(137;0.0973)	292			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.876T>C	CCDS10803.1																																																																																				0.408	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		25	87	0	0	0	0.004656	0	25	87				
AP1G1	164	broad.mit.edu	37	16	71772945	71772945	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:71772945C>A	ENST00000299980.4	-	21	2609	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L	AP1G1_ENST00000569748.1_Missense_Mutation_p.R723L|AP1G1_ENST00000393512.3_Missense_Mutation_p.R726L|AP1G1_ENST00000564155.1_Missense_Mutation_p.R148L|AP1G1_ENST00000423132.2_Missense_Mutation_p.R726L|AP1G1_ENST00000433195.2_Missense_Mutation_p.R746L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	723	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.R723L(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGTATTTGACCGTTCAAAGGT	0.443																																							uc010cgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2167-2169)CGG>CTG		adaptor-related protein complex 1, gamma 1							251.0	221.0	231.0					16																	71772945		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71772945C>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2168G>T	16.37:g.71772945C>A	ENSP00000299980:p.Arg723Leu					AP1G1_uc002fba.2_Missense_Mutation_p.R726L|AP1G1_uc002fbb.2_Missense_Mutation_p.R746L|AP1G1_uc002faz.2_Missense_Mutation_p.R140L	p.R723L	NM_001128	NP_001119	O43747	AP1G1_HUMAN			21	2482	-		Ovarian(137;0.125)	723			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.2168G>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598226	0.87055	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.29	5.29	0.74685	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.75615	2.305	0.80722	D	1	P;P;P	0.44344	0.727;0.833;0.827	B;B;B	0.42112	0.376;0.361;0.33	T	0.59710	-0.7403	10	0.72032	D	0.01	-7.3528	18.9325	0.92571	0.0:1.0:0.0:0.0	.	723;746;726	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	L	723;726;726;746	ENSP00000299980:R723L;ENSP00000377148:R726L;ENSP00000409153:R726L;ENSP00000403259:R746L	ENSP00000299980:R723L	R	-	2	0	AP1G1	70330446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.467000	0.83353	0.650000	0.86243	CGG		0.443	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			40	100	1	0	6.5261e-18	0.00874	8.29262e-18	40	100				
AP1G1	164	broad.mit.edu	37	16	71807199	71807199	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:71807199G>A	ENST00000299980.4	-	4	834	c.393C>T	c.(391-393)tcC>tcT	p.S131S	AP1G1_ENST00000569748.1_Silent_p.S131S|AP1G1_ENST00000393512.3_Silent_p.S131S|AP1G1_ENST00000423132.2_Silent_p.S131S|AP1G1_ENST00000433195.2_Silent_p.S154S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	131					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACATCTCTGAGGAGCCCATGC	0.438																																							uc010cgg.2		NA																	0				ovary(2)	2						c.(391-393)TCC>TCT		adaptor-related protein complex 1, gamma 1							97.0	97.0	97.0					16																	71807199		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71807199G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.393C>T	16.37:g.71807199G>A						AP1G1_uc002fba.2_Silent_p.S131S|AP1G1_uc002fbb.2_Silent_p.S154S|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.S213S	p.S131S	NM_001128	NP_001119	O43747	AP1G1_HUMAN			4	707	-		Ovarian(137;0.125)	131					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.393C>T	CCDS32480.1																																																																																				0.438	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			14	52	0	0	0	0.003163	0	14	52				
ZFHX3	463	broad.mit.edu	37	16	72993377	72993377	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:72993377C>A	ENST00000268489.5	-	2	1340	c.668G>T	c.(667-669)gGg>gTg	p.G223V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	223					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGCTGAGCCCCGCCAGGGC	0.562																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(667-669)GGG>GTG		zinc finger homeobox 3 isoform A							99.0	96.0	97.0					16																	72993377		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993377C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.668G>T	16.37:g.72993377C>A	ENSP00000268489:p.Gly223Val					ZFHX3_uc002fcl.2_Intron	p.G223V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1341	-		Ovarian(137;0.13)	223					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.668G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119728	0.37436	.	.	ENSG00000140836	ENST00000268489	T	0.76186	-1.0	4.51	4.51	0.55191	.	0.000000	0.51477	D	0.000099	D	0.83977	0.5371	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85144	0.0982	10	0.52906	T	0.07	.	17.6085	0.88046	0.0:1.0:0.0:0.0	.	223	Q15911	ZFHX3_HUMAN	V	223	ENSP00000268489:G223V	ENSP00000268489:G223V	G	-	2	0	ZFHX3	71550878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.729000	0.84864	2.228000	0.72767	0.561000	0.74099	GGG		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		27	81	1	0	2.79863e-10	0.004656	3.34117e-10	27	81				
MON1B	22879	broad.mit.edu	37	16	77229460	77229460	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:77229460G>A	ENST00000248248.3	+	5	1674	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	MON1B_ENST00000545553.1_Missense_Mutation_p.E296K|MON1B_ENST00000439557.2_Missense_Mutation_p.E333K|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	442										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CTACAGCAGAGAGGAGGAGCG	0.632																																							uc002fez.2		NA																	0					0						c.(1324-1326)GAG>AAG		MON1 homolog B							53.0	43.0	46.0					16																	77229460		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229460G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1324G>A	16.37:g.77229460G>A	ENSP00000248248:p.Glu442Lys					MON1B_uc010vnf.1_Missense_Mutation_p.E333K|MON1B_uc010vng.1_Missense_Mutation_p.E296K|MON1B_uc002ffa.2_Missense_Mutation_p.E322K	p.E442K	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			5	1654	+			442					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1324G>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025762	0.93518	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.92	3.87	0.44632	.	0.157469	0.56097	D	0.000037	T	0.56601	0.1996	L	0.48935	1.535	0.80722	D	1	P;P;P;D	0.56968	0.692;0.9;0.9;0.978	B;P;P;P	0.54499	0.3;0.742;0.742;0.754	T	0.50566	-0.8813	9	0.07175	T	0.84	.	12.8518	0.57862	0.0:0.166:0.834:0.0	.	296;333;322;442	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	K	442;333;296	.	ENSP00000248248:E442K	E	+	1	0	MON1B	75786961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.566000	0.73978	2.652000	0.90054	0.655000	0.94253	GAG		0.632	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		15	29	0	0	0	0.004007	0	15	29				
TAF1C	9013	broad.mit.edu	37	16	84213680	84213680	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:84213680G>A	ENST00000567759.1	-	13	1753	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V	TAF1C_ENST00000341690.6_Missense_Mutation_p.A430V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A524V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A498V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A431V|TAF1C_ENST00000570117.1_Missense_Mutation_p.A192V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	524					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGCACCGACGCCCCTTCTCC	0.687																																							uc002fhn.2		NA																	0				ovary(1)	1						c.(1570-1572)GCG>GTG		TBP-associated factor 1C isoform 1							13.0	17.0	16.0					16																	84213680		2146	4230	6376	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213680G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1571C>T	16.37:g.84213680G>A	ENSP00000455265:p.Ala524Val					TAF1C_uc002fhm.2_Missense_Mutation_p.A430V|TAF1C_uc010vnx.1_Missense_Mutation_p.A498V|TAF1C_uc010vny.1_Missense_Mutation_p.A115V|TAF1C_uc010vnz.1_Missense_Mutation_p.A192V|TAF1C_uc002fho.2_Missense_Mutation_p.A47V|TAF1C_uc010voa.1_Missense_Mutation_p.A192V|TAF1C_uc002fhp.1_Intron	p.A524V	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			13	1799	-			524					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1571C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053692	0.19907	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.04234	3.78;3.67;3.71	4.7	-2.03	0.07365	.	0.849337	0.09691	N	0.768394	T	0.03608	0.0103	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.15141	0.003;0.012;0.007;0.003	B;B;B;B	0.12837	0.003;0.008;0.004;0.003	T	0.46261	-0.9204	10	0.23302	T	0.38	-1.4514	6.1978	0.20559	0.1893:0.3889:0.4218:0.0	.	498;47;524;430	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	524;431;430;47	ENSP00000367802:A524V;ENSP00000437900:A431V;ENSP00000345305:A430V	ENSP00000345305:A430V	A	-	2	0	TAF1C	82771181	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.996000	0.03709	0.043000	0.15746	-0.254000	0.11334	GCG		0.687	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		10	19	0	0	0	0.00245	0	10	19				
ANKRD11	29123	broad.mit.edu	37	16	89345689	89345689	+	Missense_Mutation	SNP	C	C	T	rs370897874		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89345689C>T	ENST00000301030.4	-	9	7721	c.7261G>A	c.(7261-7263)Gcc>Acc	p.A2421T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2421T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2421					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTGATGGCGTCCACGATG	0.612																																							uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(7261-7263)GCC>ACC		ankyrin repeat domain 11		C	THR/ALA	0,4394		0,0,2197	26.0	24.0	25.0		7261	5.0	1.0	16		25	1,8593	1.2+/-3.3	0,1,4296	no	missense	ANKRD11	NM_013275.4	58	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	2421/2664	89345689	1,12987	2197	4297	6494	SO:0001583	missense	29123					nucleus		g.chr16:89345689C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7261G>A	16.37:g.89345689C>T	ENSP00000301030:p.Ala2421Thr					ANKRD11_uc002fmy.1_Missense_Mutation_p.A2421T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A2421T|ANKRD11_uc002fna.1_Missense_Mutation_p.A86T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A2378T	p.A2421T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7722	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2421					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7261G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	17.71	3.456825	0.63401	0.0	1.16E-4	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.44083	0.93;0.93	4.96	4.96	0.65561	.	0.162249	0.38605	N	0.001625	T	0.34221	0.0890	M	0.64404	1.975	0.80722	D	1	P	0.42248	0.774	B	0.26864	0.074	T	0.37731	-0.9693	10	0.49607	T	0.09	.	12.6535	0.56774	0.0:0.9196:0.0:0.0804	.	2421	Q6UB99	ANR11_HUMAN	T	2421	ENSP00000301030:A2421T;ENSP00000367581:A2421T	ENSP00000301030:A2421T	A	-	1	0	ANKRD11	87873190	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.780000	0.55386	2.302000	0.77476	0.187000	0.17357	GCC		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	17	0	0	0	0.00308	0	7	17				
SPG7	6687	broad.mit.edu	37	16	89598357	89598357	+	Missense_Mutation	SNP	G	G	A	rs368373840		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89598357G>A	ENST00000268704.2	+	8	1048	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.A345T	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	345					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCCAAAGGGCGCACTGCTGCT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		14496	0.001		0.0	False		,,,				2504	0.0						uc002fnj.2		NA																	0					0						c.(1033-1035)GCA>ACA		spastic paraplegia 7 isoform 1		G	THR/ALA,THR/ALA	1,4395	2.1+/-5.4	0,1,2197	39.0	40.0	40.0		1033,1033	5.8	0.6	16		40	0,8600		0,0,4300	no	missense,missense	SPG7	NM_003119.2,NM_199367.1	58,58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	345/796,345/490	89598357	1,12995	2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598357G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1033G>A	16.37:g.89598357G>A	ENSP00000268704:p.Ala345Thr					SPG7_uc002fni.2_Missense_Mutation_p.A345T	p.A345T	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	8	1054	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	345			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1033G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943576	0.73672	2.27E-4	0.0	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94687	-3.49;-3.49	5.85	5.85	0.93711	ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.102760	0.64402	D	0.000002	D	0.97411	0.9153	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.941;0.983	D	0.97496	1.0057	10	0.87932	D	0	-18.1959	20.2364	0.98357	0.0:0.0:1.0:0.0	.	345;345	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	T	345	ENSP00000268704:A345T;ENSP00000341157:A345T	ENSP00000268704:A345T	A	+	1	0	SPG7	88125858	1.000000	0.71417	0.619000	0.29118	0.181000	0.23173	4.419000	0.59835	2.792000	0.96026	0.558000	0.71614	GCA		0.632	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		6	57	0	0	0	0.001168	0	6	57				
SPG7	6687	broad.mit.edu	37	16	89614444	89614444	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89614444C>T	ENST00000268704.2	+	12	1601	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	529					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.A529E(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AATGAGGCTGCGCTGCACGCG	0.632																																							uc002fnj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)GCG>GTG		spastic paraplegia 7 isoform 1							117.0	113.0	114.0					16																	89614444		2198	4299	6497	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89614444C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1586C>T	16.37:g.89614444C>T	ENSP00000268704:p.Ala529Val					SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank	p.A529V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	12	1607	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	529			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1586C>T	CCDS10977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.339714|3.339714	0.60963|0.60963	.|.	.|.	ENSG00000197912|ENSG00000197912	ENST00000268704|ENST00000312613	D|.	0.95035|.	-3.59|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Peptidase M41, FtsH (2);|.	0.045629|.	0.85682|.	N|.	0.000000|.	D|D	0.85039|0.85039	0.5606|0.5606	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	P|.	0.43431|.	0.807|.	P|.	0.44447|.	0.45|.	D|D	0.87651|0.87651	0.2528|0.2528	10|6	0.87932|0.87932	D|D	0|0	-13.4777|-13.4777	19.3042|19.3042	0.94153|0.94153	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	529|.	Q9UQ90|.	SPG7_HUMAN|.	V|C	529|4	ENSP00000268704:A529V|.	ENSP00000268704:A529V|ENSP00000310320:R4C	A|R	+|+	2|1	0|0	SPG7|SPG7	88141945|88141945	1.000000|1.000000	0.71417|0.71417	0.225000|0.225000	0.23894|0.23894	0.023000|0.023000	0.10783|0.10783	7.515000|7.515000	0.81761|0.81761	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.632	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		26	106	0	0	0	0.008361	0	26	106				
CPNE7	27132	broad.mit.edu	37	16	89661895	89661895	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89661895G>A	ENST00000268720.5	+	16	1778	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	CPNE7_ENST00000319518.8_Missense_Mutation_p.A475T|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	550	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CGTGGGCAACGCCGACTTCAC	0.677																																							uc002fnp.2		NA																	0					0						c.(1648-1650)GCC>ACC		copine 7 isoform b							68.0	50.0	56.0					16																	89661895		2195	4298	6493	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89661895G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1648G>A	16.37:g.89661895G>A	ENSP00000268720:p.Ala550Thr					CPNE7_uc002fnq.2_Missense_Mutation_p.A475T	p.A550T	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	16	1778	+		all_hematologic(23;0.0748)	550			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1648G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619656	0.46736	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.25749	1.78;1.78	3.56	2.58	0.30949	von Willebrand factor, type A (2);	0.114917	0.64402	D	0.000017	T	0.52549	0.1741	M	0.86953	2.85	0.44807	D	0.997816	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.58295	-0.7661	10	0.87932	D	0	-13.7349	11.0917	0.48119	0.0956:0.0:0.9044:0.0	.	475;550	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	T	475;550	ENSP00000317374:A475T;ENSP00000268720:A550T	ENSP00000268720:A550T	A	+	1	0	CPNE7	88189396	1.000000	0.71417	0.934000	0.37439	0.934000	0.57294	5.099000	0.64554	0.609000	0.30018	0.555000	0.69702	GCC		0.677	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			14	25	0	0	0	0.001855	0	14	25				
FAM57A	79850	broad.mit.edu	37	17	641168	641168	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:641168T>A	ENST00000308278.8	+	3	525	c.289T>A	c.(289-291)Tgc>Agc	p.C97S	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.C97S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	97	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTGTGAATGGTGCCGAACCAG	0.493																																							uc002frp.2		NA																	0					0						c.(289-291)TGC>AGC		family with sequence similarity 57, member A							231.0	205.0	214.0					17																	641168		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641168T>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.289T>A	17.37:g.641168T>A	ENSP00000312017:p.Cys97Ser					FAM57A_uc002frq.2_Missense_Mutation_p.C97S|FAM57A_uc002frr.2_Missense_Mutation_p.C7S	p.C97S	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	330	+			97			TLC.|Helical; (Potential).		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.289T>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	T	9.277	1.047184	0.19827	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.84370	-1.84;-1.84	5.89	5.89	0.94794	TRAM/LAG1/CLN8 homology domain (3);	0.358835	0.33127	N	0.005244	T	0.79335	0.4428	L	0.44542	1.39	0.28514	N	0.9134	B;B	0.17268	0.021;0.01	B;B	0.23275	0.027;0.045	T	0.69060	-0.5245	10	0.31617	T	0.26	-4.4135	9.8267	0.40916	0.0:0.0832:0.0:0.9168	.	97;97	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	S	97;97;170	ENSP00000312017:C97S;ENSP00000301324:C97S	ENSP00000301324:C97S	C	+	1	0	FAM57A	587918	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	1.640000	0.37186	2.268000	0.75426	0.519000	0.50382	TGC		0.493	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		18	99	0	0	0	0.008871	0	18	99				
CLUH	23277	broad.mit.edu	37	17	2601632	2601632	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:2601632T>C	ENST00000570628.2	-	10	1510	c.1405A>G	c.(1405-1407)Acg>Gcg	p.T469A	CLUH_ENST00000435359.1_Missense_Mutation_p.T469A|CLUH_ENST00000538975.1_Missense_Mutation_p.T469A			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	469					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GTGCCCAGCGTGTACAGCCCC	0.667																																							uc002fuy.1		NA																	0				breast(2)	2						c.(1405-1407)ACG>GCG		hypothetical protein LOC23277							44.0	54.0	51.0					17																	2601632		2155	4239	6394	SO:0001583	missense	23277						binding	g.chr17:2601632T>C	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1405A>G	17.37:g.2601632T>C	ENSP00000458986:p.Thr469Ala					KIAA0664_uc002fux.1_Missense_Mutation_p.T401A	p.T469A	NM_015229	NP_056044	O75153	K0664_HUMAN			10	1491	-			469					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.1405A>G	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044955	0.93685	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82893	-1.66;-1.66	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.91612	3.225	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.72075	0.976;0.976	D	0.93632	0.6957	10	0.56958	D	0.05	.	14.6189	0.68569	0.0:0.0:0.0:1.0	.	469;469	O75153;C9J6D7	K0664_HUMAN;.	A	469	ENSP00000388872:T469A;ENSP00000439628:T469A	ENSP00000320468:T469A	T	-	1	0	KIAA0664	2548382	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.698000	0.84413	2.048000	0.60808	0.533000	0.62120	ACG		0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		5	18	0	0	0	0.000602	0	5	18				
OR1A2	26189	broad.mit.edu	37	17	3100858	3100858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:3100858G>T	ENST00000381951.1	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TATTCTCCTGGGAGTTACTAG	0.398																																							uc002fvd.1		NA																	0				skin(2)	2						c.(46-48)GGA>TGA		olfactory receptor, family 1, subfamily A,							126.0	119.0	121.0					17																	3100858		2203	4300	6503	SO:0001587	stop_gained	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3100858G>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.46G>T	17.37:g.3100858G>T	ENSP00000371377:p.Gly16*						p.G16*	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	46	+			16			Extracellular (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Nonsense_Mutation	SNP	ENST00000381951.1	37	c.46G>T	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333785	0.41297	.	.	ENSG00000172150	ENST00000381951	.	.	.	3.82	3.82	0.43975	.	0.000000	0.45606	D	0.000348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.9699	0.58508	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000371377:G16X	G	+	1	0	OR1A2	3047608	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	4.990000	0.63876	2.157000	0.67596	0.597000	0.82753	GGA		0.398	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		19	37	1	0	0.00074312	0.006122	0.000785422	19	37				
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672																																							uc010cli.2		NA																	0					0						c.(40-42)CGA>CAA		WSC domain containing 1			GLN/ARG	0,4246		0,0,2123	41.0	40.0	40.0		41	4.8	1.0	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG		0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984019G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	17.37:g.5984019G>A	ENSP00000460825:p.Arg14Gln					WSCD1_uc002gcn.2_Missense_Mutation_p.R14Q|WSCD1_uc002gco.2_Missense_Mutation_p.R14Q|WSCD1_uc010clj.2_5'UTR	p.R14Q	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			2	420	+			14					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.41G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA		0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		4	38	0	0	0	0.009096	0	4	38				
NLGN2	57555	broad.mit.edu	37	17	7320373	7320373	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7320373G>A	ENST00000302926.2	+	7	1836	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	NLGN2_ENST00000575301.1_Missense_Mutation_p.R588H	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	588					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTGAAGCCACGCGTGCGTGAC	0.587																																							uc002ggt.1		NA																	0				central_nervous_system(1)	1						c.(1762-1764)CGC>CAC		neuroligin 2 precursor							104.0	85.0	91.0					17																	7320373		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7320373G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1763G>A	17.37:g.7320373G>A	ENSP00000305288:p.Arg588His						p.R588H	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			7	1836	+		Prostate(122;0.157)	588			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1763G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208511	0.79240	.	.	ENSG00000169992	ENST00000302926	T	0.59638	0.25	4.83	4.83	0.62350	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.75722	-0.3218	10	0.87932	D	0	.	15.8033	0.78473	0.0:0.0:1.0:0.0	.	588	Q8NFZ4	NLGN2_HUMAN	H	588	ENSP00000305288:R588H	ENSP00000305288:R588H	R	+	2	0	NLGN2	7261097	1.000000	0.71417	0.516000	0.27786	0.597000	0.36814	9.648000	0.98483	2.668000	0.90789	0.561000	0.74099	CGC		0.587	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		4	27	0	0	0	0.009096	0	4	27				
FXR2	9513	broad.mit.edu	37	17	7496106	7496106	+	Silent	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7496106G>C	ENST00000250113.7	-	14	1969	c.1635C>G	c.(1633-1635)cgC>cgG	p.R545R	SOX15_ENST00000538513.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	545	Poly-Arg.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGGAGCGGCGGCGCCTGGCAC	0.617																																							uc002gia.1		NA																	0					0						c.(1633-1635)CGC>CGG		fragile X mental retardation syndrome related							16.0	18.0	18.0					17																	7496106		1841	4070	5911	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496106G>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1635C>G	17.37:g.7496106G>C						MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.R545R	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1862	-			545			Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1635C>G	CCDS45604.1																																																																																				0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			4	33	0	0	0	0.009096	0	4	33				
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7578236A>G	ENST00000269305.4	-	6	802	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H|TP53_ENST00000359597.4_Missense_Mutation_p.Y205H|TP53_ENST00000420246.2_Missense_Mutation_p.Y205H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATCCAAATACTCCACACGC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		48	Substitution - Missense(30)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.Y205C(53)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|large_intestine(5)|endometrium(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|breast(3)|pancreas(3)|stomach(2)|lung(2)|skin(2)|urinary_tract(1)|oesophagus(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(613-615)TAT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	121.0	126.0					17																	7578236		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578236A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.613T>C	17.37:g.7578236A>G	ENSP00000269305:p.Tyr205His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y205H|TP53_uc002gih.2_Missense_Mutation_p.Y205H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73H|TP53_uc010cng.1_Missense_Mutation_p.Y73H|TP53_uc002gii.1_Missense_Mutation_p.Y73H|TP53_uc010cnh.1_Missense_Mutation_p.Y205H|TP53_uc010cni.1_Missense_Mutation_p.Y205H|TP53_uc002gij.2_Missense_Mutation_p.Y205H|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112H|TP53_uc002gio.2_Missense_Mutation_p.Y73H|TP53_uc010vug.1_Missense_Mutation_p.Y166H	p.Y205H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	807	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.613T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361009	0.82353	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.88906	2.99	0.58432	D	0.999998	B;P;P;P;P;B;D	0.89917	0.345;0.797;0.945;0.593;0.725;0.29;1.0	P;P;P;P;P;P;D	0.80764	0.56;0.809;0.87;0.672;0.832;0.672;0.994	D	0.96416	0.9308	10	0.87932	D	0	-5.8058	13.709	0.62656	1.0:0.0:0.0:0.0	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205H;ENSP00000352610:Y205H;ENSP00000269305:Y205H;ENSP00000398846:Y205H;ENSP00000391127:Y205H;ENSP00000391478:Y205H;ENSP00000425104:Y73H;ENSP00000423862:Y112H	ENSP00000269305:Y205H	Y	-	1	0	TP53	7518961	1.000000	0.71417	0.163000	0.22734	0.042000	0.13812	7.465000	0.80898	2.183000	0.69458	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	20	0	0	0	0.00632	0	24	20				
WRAP53	55135	broad.mit.edu	37	17	7606341	7606341	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7606341G>T	ENST00000316024.5	+	9	3647	c.1299G>T	c.(1297-1299)acG>acT	p.T433T	WRAP53_ENST00000457584.2_Silent_p.T433T|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000396463.2_Silent_p.T433T|WRAP53_ENST00000431639.2_Silent_p.T433T|WRAP53_ENST00000534050.1_Silent_p.T400T			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	433					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GTGGCAGCACGAGCGGGGCTG	0.637																																							uc010vuh.1		NA																	0					0						c.(1297-1299)ACG>ACT		WD repeat domain 79 isoform 2							45.0	49.0	48.0					17																	7606341		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606341G>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1299G>T	17.37:g.7606341G>T						WRAP53_uc010vui.1_Silent_p.T433T|WRAP53_uc002gip.2_Silent_p.T433T|WRAP53_uc002gir.2_Silent_p.T433T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T400T|EFNB3_uc002gis.2_5'Flank	p.T433T	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			10	1454	+			433			WD 6.		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.1299G>T	CCDS11119.1																																																																																				0.637	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		10	32	1	0	0.000673444	0.008291	0.000712385	10	32				
MYH8	4626	broad.mit.edu	37	17	10318842	10318842	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:10318842C>A	ENST00000403437.2	-	7	689	c.595G>T	c.(595-597)Gca>Tca	p.A199S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAATTGTTGCAAAGTATTGG	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(595-597)GCA>TCA		myosin, heavy chain 8, skeletal muscle,							141.0	132.0	135.0					17																	10318842		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318842C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.595G>T	17.37:g.10318842C>A	ENSP00000384330:p.Ala199Ser					uc002gml.1_Intron	p.A199S	NM_002472	NP_002463	P13535	MYH8_HUMAN			7	690	-			199			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.595G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688998	0.88735	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90069	-2.61	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000888	D	0.95069	0.8403	M	0.87682	2.9	0.58432	D	0.999999	P	0.52692	0.955	D	0.73380	0.98	D	0.95978	0.8975	10	0.87932	D	0	.	17.2389	0.87007	0.0:1.0:0.0:0.0	.	199	P13535	MYH8_HUMAN	S	199	ENSP00000384330:A199S	ENSP00000252173:A199S	A	-	1	0	MYH8	10259567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.522000	0.81844	2.308000	0.77769	0.591000	0.81541	GCA		0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		50	49	1	0	6.30371e-39	0.00361	8.25454e-39	50	49				
TEKT3	64518	broad.mit.edu	37	17	15212074	15212074	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:15212074T>A	ENST00000395930.1	-	8	1349	c.1163A>T	c.(1162-1164)gAc>gTc	p.D388V	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Missense_Mutation_p.D388V|TEKT3_ENST00000462175.1_5'Flank	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	388					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGCAGTCTTGTCCTTGATGGC	0.517																																							uc002gon.2		NA																	0				ovary(2)	2						c.(1162-1164)GAC>GTC		tektin 3							196.0	159.0	172.0					17																	15212074		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15212074T>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1163A>T	17.37:g.15212074T>A	ENSP00000379263:p.Asp388Val						p.D388V	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	8	1350	-			388					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1163A>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355046	0.41700	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.03181	4.02;4.02	5.31	5.31	0.75309	.	0.257806	0.49916	D	0.000137	T	0.20941	0.0504	M	0.90198	3.095	0.80722	D	1	D	0.54397	0.966	P	0.61397	0.888	T	0.01675	-1.1298	10	0.66056	D	0.02	-0.9053	14.7337	0.69402	0.0:0.0:0.0:1.0	.	388	Q9BXF9	TEKT3_HUMAN	V	388	ENSP00000379263:D388V;ENSP00000343995:D388V	ENSP00000343995:D388V	D	-	2	0	TEKT3	15152799	1.000000	0.71417	0.683000	0.30040	0.823000	0.46562	5.928000	0.70088	2.142000	0.66516	0.533000	0.62120	GAC		0.517	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		39	58	0	0	0	0.005524	0	39	58				
TRIM16	10626	broad.mit.edu	37	17	15532258	15532258	+	Missense_Mutation	SNP	G	G	A	rs570022659	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:15532258G>A	ENST00000578237.1	-	11	2221	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	TRIM16_ENST00000416464.2_Missense_Mutation_p.R326C|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Missense_Mutation_p.R240C|TRIM16_ENST00000336708.7_Missense_Mutation_p.R456C			O95361	TRI16_HUMAN	tripartite motif containing 16	456	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CAACTGTTGCGCTCCTCCCCT	0.552																																							uc002gox.2		NA																	0				ovary(2)|skin(1)	3						c.(1366-1368)CGC>TGC		tripartite motif-containing 16							102.0	92.0	95.0					17																	15532258		2203	4300	6503	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15532258G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1366C>T	17.37:g.15532258G>A	ENSP00000463188:p.Arg456Cys					TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.R240C|TRIM16_uc002goy.2_Missense_Mutation_p.R326C	p.R456C	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	1923	-			456			B30.2/SPRY.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1366C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	19.60	3.857809	0.71834	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.70516	-0.49;-0.49	4.53	3.42	0.39159	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.53238	0.1784	L	0.35854	1.095	0.45477	D	0.998447	B;P	0.43314	0.279;0.803	B;B	0.32022	0.055;0.139	T	0.59558	-0.7432	9	0.54805	T	0.06	.	9.0219	0.36204	0.0:0.0:0.6266:0.3734	.	326;456	B3KP96;O95361	.;TRI16_HUMAN	C	456;326	ENSP00000338989:R456C;ENSP00000399918:R326C	ENSP00000338989:R456C	R	-	1	0	TRIM16	15472983	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	4.227000	0.58612	2.232000	0.73038	0.650000	0.86243	CGC		0.552	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		19	74	0	0	0	0.007413	0	19	74				
NCOR1	9611	broad.mit.edu	37	17	15942809	15942809	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:15942809T>C	ENST00000268712.3	-	44	7150	c.6893A>G	c.(6892-6894)aAc>aGc	p.N2298S	NCOR1_ENST00000395857.3_Missense_Mutation_p.N882S|NCOR1_ENST00000395851.1_Missense_Mutation_p.N2195S|AC002553.1_ENST00000442828.1_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2298	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AACTGAGGTGTTGGCAGTACC	0.488																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6892-6894)AAC>AGC		nuclear receptor co-repressor 1							156.0	108.0	124.0					17																	15942809		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942809T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6893A>G	17.37:g.15942809T>C	ENSP00000268712:p.Asn2298Ser					NCOR1_uc002gpn.2_Missense_Mutation_p.N2195S|NCOR1_uc002gpl.2_Missense_Mutation_p.N313S|NCOR1_uc002gpm.2_Missense_Mutation_p.N818S|NCOR1_uc010vwb.1_Missense_Mutation_p.N882S|NCOR1_uc010coy.2_Missense_Mutation_p.N1206S	p.N2298S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7133	-			2298			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6893A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	5.568	0.289726	0.10567	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.39997	1.06;1.63;1.05	5.61	-2.58	0.06228	.	0.636976	0.17967	N	0.155994	T	0.13415	0.0325	N	0.02802	-0.49	0.20638	N	0.999878	B;B;B;B;B	0.28082	0.0;0.0;0.2;0.0;0.0	B;B;B;B;B	0.28709	0.0;0.0;0.093;0.001;0.003	T	0.33137	-0.9880	10	0.02654	T	1	-0.0734	9.6155	0.39690	0.0:0.5898:0.1222:0.2881	.	2202;2298;2195;818;312	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	S	2298;2195;2202;882	ENSP00000268712:N2298S;ENSP00000379192:N2195S;ENSP00000379198:N882S	ENSP00000268712:N2298S	N	-	2	0	NCOR1	15883534	0.830000	0.29337	0.636000	0.29352	0.997000	0.91878	0.000000	0.12993	-0.807000	0.04393	0.533000	0.62120	AAC		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	44	0	0	0	0.00308	0	7	44				
TAOK1	57551	broad.mit.edu	37	17	27849414	27849414	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:27849414T>C	ENST00000261716.3	+	17	2544	c.2025T>C	c.(2023-2025)tgT>tgC	p.C675C	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	675					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGATGCGCTGTGAGTTGATCA	0.448																																							uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2023-2025)TGT>TGC		TAO kinase 1							113.0	102.0	106.0					17																	27849414		2203	4300	6503	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849414T>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2025T>C	17.37:g.27849414T>C						TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Silent_p.C675C	p.C675C	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2219	+			675					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.2025T>C	CCDS32601.1																																																																																				0.448	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		16	82	0	0	0	0.00499	0	16	82				
SLFN13	146857	broad.mit.edu	37	17	33772338	33772338	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:33772338C>T	ENST00000285013.6	-	3	637	c.362G>A	c.(361-363)gGt>gAt	p.G121D	SLFN13_ENST00000542635.1_Missense_Mutation_p.G121D|SLFN13_ENST00000526861.1_Missense_Mutation_p.G121D|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.G121D|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	121						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATTGAAAGAACCATCTTTAAG	0.393																																							uc002hjk.1		NA																	0				ovary(1)|breast(1)	2						c.(361-363)GGT>GAT		schlafen family member 13							59.0	60.0	60.0					17																	33772338		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33772338C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.362G>A	17.37:g.33772338C>T	ENSP00000285013:p.Gly121Asp					SLFN13_uc010wch.1_Missense_Mutation_p.G121D|SLFN13_uc002hjl.2_Missense_Mutation_p.G121D|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_Intron	p.G121D	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	1	692	-			121					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.362G>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840621	0.16891	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.01918	4.56;4.56;4.56	3.28	-3.5	0.04710	.	1.389740	0.05142	N	0.494411	T	0.01592	0.0051	L	0.36672	1.1	0.09310	N	1	B	0.29432	0.244	B	0.24701	0.055	T	0.46721	-0.9171	10	0.09590	T	0.72	.	0.9909	0.01456	0.1699:0.2662:0.3347:0.2291	.	121	Q68D06	SLN13_HUMAN	D	121	ENSP00000285013:G121D;ENSP00000434439:G121D;ENSP00000444016:G121D	ENSP00000285013:G121D	G	-	2	0	SLFN13	30796451	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.285000	0.02791	-0.478000	0.06823	0.205000	0.17691	GGT		0.393	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		26	37	0	0	0	0.003954	0	26	37				
TBC1D3B	414059	broad.mit.edu	37	17	34499264	34499264	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:34499264T>G	ENST00000454519.3	-	7	596	c.447A>C	c.(445-447)atA>atC	p.I149I	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Silent_p.I149I	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	149	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGTCCCGCTTATGTCCCGGT	0.547																																							uc002hky.2		NA																	0					0						c.(445-447)ATA>ATC		TBC1 domain family, member 3B							42.0	35.0	37.0					17																	34499264		1445	3007	4452	SO:0001819	synonymous_variant	414059					intracellular	Rab GTPase activator activity	g.chr17:34499264T>G	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.447A>C	17.37:g.34499264T>G						uc002hla.1_5'Flank|uc002hlc.2_5'Flank	p.I149I	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	597	-		Breast(25;0.102)|Ovarian(249;0.17)	149			Rab-GAP TBC.		A8K892	Silent	SNP	ENST00000454519.3	37	c.447A>C	CCDS42300.1																																																																																				0.547	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		35	408	0	0	0	0.00361	0	35	408				
SYNRG	11276	broad.mit.edu	37	17	35928998	35928998	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:35928998T>C	ENST00000339208.6	-	11	1516	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R	SYNRG_ENST00000346661.4_Missense_Mutation_p.Q459R|SYNRG_ENST00000502449.2_Missense_Mutation_p.Q381R|SYNRG_ENST00000585472.1_Missense_Mutation_p.Q380R|SYNRG_ENST00000394378.2_Missense_Mutation_p.Q381R|SYNRG_ENST00000591288.1_Missense_Mutation_p.Q298R|SYNRG_ENST00000345615.4_Missense_Mutation_p.Q381R|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	459					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAAAATCCTGGAAGTCATC	0.363																																							uc002hoa.2		NA																	0				ovary(2)	2						c.(1375-1377)CAG>CGG		synergin, gamma isoform 1							119.0	122.0	121.0					17																	35928998		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35928998T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1376A>G	17.37:g.35928998T>C	ENSP00000343610:p.Gln459Arg					SYNRG_uc010wde.1_Missense_Mutation_p.Q381R|SYNRG_uc010wdf.1_Missense_Mutation_p.Q381R|SYNRG_uc002hoc.2_Missense_Mutation_p.Q380R|SYNRG_uc002hoe.2_Missense_Mutation_p.Q381R|SYNRG_uc002hod.2_Missense_Mutation_p.Q381R|SYNRG_uc010wdg.1_Missense_Mutation_p.Q298R|SYNRG_uc002hob.2_Missense_Mutation_p.Q459R|SYNRG_uc002hof.2_Missense_Mutation_p.Q171R|SYNRG_uc010cvd.1_Missense_Mutation_p.Q259R|SYNRG_uc002hog.1_Missense_Mutation_p.Q593R	p.Q459R	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			11	1459	-			459			DFXDF motif 1.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1376A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934062	0.92458	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.56103	1.01;0.48;0.64	5.77	5.77	0.91146	.	0.113124	0.64402	D	0.000009	T	0.69450	0.3112	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997;0.997	D;D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.99;0.99	T	0.67864	-0.5560	10	0.36615	T	0.2	-7.9269	16.087	0.81065	0.0:0.0:0.0:1.0	.	298;381;381;381;459;459	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	R	459;298;459;381;381	ENSP00000005279:Q459R;ENSP00000424893:Q381R;ENSP00000377903:Q381R	ENSP00000343610:Q298R	Q	-	2	0	SYNRG	33003111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.212000	0.71576	0.477000	0.44152	CAG		0.363	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		17	78	0	0	0	0.007413	0	17	78				
GPR179	440435	broad.mit.edu	37	17	36495347	36495347	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:36495347G>T	ENST00000342292.4	-	2	876	c.856C>A	c.(856-858)Cca>Aca	p.P286T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	286					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACCAGCCTGGGCCACTTGCA	0.552																																							uc002hpz.2		NA																	0				ovary(3)	3						c.(856-858)CCA>ACA		GPR158-like 1 precursor							119.0	121.0	120.0					17																	36495347		2134	4227	6361	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36495347G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.856C>A	17.37:g.36495347G>T	ENSP00000345060:p.Pro286Thr						p.P286T	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			2	877	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	286			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.856C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453565	0.63290	.	.	ENSG00000188888	ENST00000342292	T	0.54071	0.59	4.32	4.32	0.51571	Epidermal growth factor-like (1);	0.207934	0.33382	N	0.004977	T	0.69124	0.3076	M	0.75615	2.305	0.35952	D	0.833958	D	0.69078	0.997	P	0.60789	0.879	T	0.79509	-0.1774	10	0.72032	D	0.01	-10.8126	16.1008	0.81169	0.0:0.0:1.0:0.0	.	286	Q6PRD1	GP179_HUMAN	T	286	ENSP00000345060:P286T	ENSP00000345060:P286T	P	-	1	0	GPR179	33748873	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.035000	0.41155	2.396000	0.81511	0.462000	0.41574	CCA		0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			24	57	1	0	7.92952e-12	0.003954	9.65198e-12	24	57				
LASP1	3927	broad.mit.edu	37	17	37074986	37074986	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37074986C>T	ENST00000318008.6	+	7	1072	c.741C>T	c.(739-741)acC>acT	p.T247T	LASP1_ENST00000433206.2_Silent_p.T191T|LASP1_ENST00000435347.3_Silent_p.T247T|RP1-56K13.3_ENST00000580121.1_RNA	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	247	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TGGAGCGCACCGGCGACACGG	0.662			T	MLL	AML																																		uc002hra.2		NA		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				lung(1)	1						c.(739-741)ACC>ACT		LIM and SH3 protein 1							98.0	86.0	90.0					17																	37074986		2203	4300	6503	SO:0001819	synonymous_variant	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074986C>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.741C>T	17.37:g.37074986C>T						LASP1_uc010cvq.2_Missense_Mutation_p.P125L|LASP1_uc010wdz.1_Silent_p.T191T	p.T247T	NM_006148	NP_006139	Q14847	LASP1_HUMAN			7	1072	+			247			SH3.		B4DGQ0|Q96ED2|Q96IG0	Silent	SNP	ENST00000318008.6	37	c.741C>T	CCDS11331.1																																																																																				0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		24	86	0	0	0	0.00333	0	24	86				
PNMT	5409	broad.mit.edu	37	17	37826287	37826287	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37826287T>C	ENST00000269582.2	+	3	812	c.494T>C	c.(493-495)cTg>cCg	p.L165P	PNMT_ENST00000581428.1_3'UTR|PNMT_ENST00000394246.1_Missense_Mutation_p.L67P	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	165					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCAGCCCCTGGGTGCTGGG	0.662																																							uc002hsi.1		NA																	0				ovary(1)	1						c.(493-495)CTG>CCG		phenylethanolamine N-methyltransferase							34.0	36.0	35.0					17																	37826287		2203	4299	6502	SO:0001583	missense	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37826287T>C		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.494T>C	17.37:g.37826287T>C	ENSP00000269582:p.Leu165Pro						p.L165P	NM_002686	NP_002677	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	716	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		165						Missense_Mutation	SNP	ENST00000269582.2	37	c.494T>C	CCDS11343.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837151	0.50951	.	.	ENSG00000141744	ENST00000394246;ENST00000269582	T;T	0.05025	3.51;3.51	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000014	T	0.26738	0.0654	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02457	-1.1156	10	0.87932	D	0	-14.1487	14.2546	0.66043	0.0:0.0:0.0:1.0	.	165	P11086	PNMT_HUMAN	P	67;165	ENSP00000377791:L67P;ENSP00000269582:L165P	ENSP00000269582:L165P	L	+	2	0	PNMT	35079813	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	3.785000	0.55424	1.862000	0.54008	0.402000	0.26972	CTG		0.662	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		5	64	0	0	0	0.000602	0	5	64				
TNS4	84951	broad.mit.edu	37	17	38633940	38633940	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:38633940T>C	ENST00000254051.6	-	13	2206	c.2048A>G	c.(2047-2049)gAg>gGg	p.E683G		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	683	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCATACGTTCTCCTGAGGCTC	0.607																																							uc010cxb.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2047-2049)GAG>GGG		tensin 4 precursor							130.0	103.0	112.0					17																	38633940		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38633940T>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.2048A>G	17.37:g.38633940T>C	ENSP00000254051:p.Glu683Gly					TNS4_uc002huu.3_Missense_Mutation_p.E96G	p.E683G	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		13	2212	-		Breast(137;0.000496)	683			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.2048A>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932919	0.92458	.	.	ENSG00000131746	ENST00000377816;ENST00000394072;ENST00000254051	T	0.44482	0.92	5.27	5.27	0.74061	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.319162	0.26832	N	0.022266	T	0.59238	0.2179	L	0.51914	1.62	0.58432	D	0.999998	D;P	0.89917	1.0;0.815	D;B	0.85130	0.997;0.38	T	0.62077	-0.6930	10	0.72032	D	0.01	-24.0653	14.869	0.70441	0.0:0.0:0.0:1.0	.	683;96	Q8IZW8;F2Z318	TENS4_HUMAN;.	G	683;96;683	ENSP00000254051:E683G	ENSP00000254051:E683G	E	-	2	0	TNS4	35887466	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.264000	0.72527	2.006000	0.58801	0.459000	0.35465	GAG		0.607	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		5	83	0	0	0	0.001168	0	5	83				
KRT38	8687	broad.mit.edu	37	17	39596688	39596688	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:39596688T>A	ENST00000246646.3	-	1	485	c.486A>T	c.(484-486)caA>caT	p.Q162H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	162	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCTTCTGTTGGAGCTCCT	0.567																																							uc002hwq.1		NA																	0				skin(2)	2						c.(484-486)CAA>CAT		keratin 38							102.0	93.0	96.0					17																	39596688		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596688T>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.486A>T	17.37:g.39596688T>A	ENSP00000246646:p.Gln162His						p.Q162H	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	909	-		Breast(137;0.000496)	162			Rod.|Coil 1B.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.486A>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600155	0.66332	.	.	ENSG00000171360	ENST00000246646	D	0.89050	-2.46	4.45	2.39	0.29439	Filament (1);	0.000000	0.46442	D	0.000290	D	0.93481	0.7920	M	0.90252	3.1	0.25090	N	0.990861	D	0.89917	1.0	D	0.91635	0.999	D	0.85064	0.0936	10	0.87932	D	0	.	3.5945	0.08001	0.1841:0.5383:0.0:0.2776	.	162	O76015	KRT38_HUMAN	H	162	ENSP00000246646:Q162H	ENSP00000246646:Q162H	Q	-	3	2	KRT38	36850214	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.258000	0.08733	1.101000	0.41535	-0.137000	0.14449	CAA		0.567	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		15	91	0	0	0	0.003163	0	15	91				
HAP1	9001	broad.mit.edu	37	17	39884470	39884470	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:39884470G>T	ENST00000310778.5	-	7	1192	c.1183C>A	c.(1183-1185)Cag>Aag	p.Q395K	HAP1_ENST00000393939.2_Missense_Mutation_p.Q395K|HAP1_ENST00000341193.5_Missense_Mutation_p.Q403K|JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.Q395K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	395	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CAGCGCTGCTGCAGCTTCAGC	0.632																																							uc002hxm.1		NA																	0				ovary(2)	2						c.(1183-1185)CAG>AAG		huntingtin-associated protein 1 isoform 2							43.0	41.0	42.0					17																	39884470		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884470G>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1183C>A	17.37:g.39884470G>T	ENSP00000309392:p.Gln395Lys					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.Q395K|HAP1_uc002hxo.1_Missense_Mutation_p.Q403K|HAP1_uc002hxp.1_Missense_Mutation_p.Q395K	p.Q395K	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		7	1195	-		Breast(137;0.000162)	395			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1183C>A		.	.	.	.	.	.	.	.	.	.	G	10.24	1.296694	0.23650	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.14	2.15	0.27550	.	0.000000	0.39615	N	0.001309	T	0.36082	0.0954	M	0.78049	2.395	0.21841	N	0.999512	P;P;P;P	0.43169	0.655;0.655;0.612;0.8	B;B;B;P	0.48552	0.337;0.337;0.301;0.581	T	0.17471	-1.0368	10	0.62326	D	0.03	-20.25	8.273	0.31855	0.1419:0.0:0.8581:0.0	.	395;403;395;395	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	395;395;395;403	ENSP00000377513:Q395K;ENSP00000309392:Q395K;ENSP00000334002:Q395K;ENSP00000343170:Q403K	ENSP00000309392:Q395K	Q	-	1	0	HAP1	37137996	1.000000	0.71417	0.787000	0.31911	0.002000	0.02628	3.276000	0.51646	0.436000	0.26393	-1.190000	0.01697	CAG		0.632	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		10	68	1	0	2.17888e-05	0.006214	2.36934e-05	10	68				
DNAJC7	7266	broad.mit.edu	37	17	40135644	40135644	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:40135644T>G	ENST00000457167.4	-	10	1257	c.1021A>C	c.(1021-1023)Aca>Cca	p.T341P	DNAJC7_ENST00000316603.7_Missense_Mutation_p.T285P|DNAJC7_ENST00000426588.3_Missense_Mutation_p.T285P	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	341					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TACTGTTCTGTGTCCATGTAA	0.393																																					Colon(63;618 1117 8600 10857 19751)	Colon(63;618 1117 8600 10857 19751)	uc002hyo.2		NA																	0				ovary(1)	1						c.(1021-1023)ACA>CCA		DnaJ (Hsp40) homolog, subfamily C, member 7							159.0	133.0	141.0					17																	40135644		1939	4138	6077	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40135644T>G	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1021A>C	17.37:g.40135644T>G	ENSP00000406463:p.Thr341Pro					DNAJC7_uc010cxu.2_Missense_Mutation_p.T285P|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Missense_Mutation_p.T285P|DNAJC7_uc010wgc.1_Missense_Mutation_p.T199P|DNAJC7_uc002hyp.2_Missense_Mutation_p.T285P	p.T341P	NM_003315	NP_003306	Q99615	DNJC7_HUMAN			10	1258	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	341			TPR 9.		Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.1021A>C	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805988	0.90623	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.63255	-0.03;-0.03;-0.03	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.39898	1.24	0.80722	D	1	P;P	0.41643	0.637;0.758	B;P	0.46419	0.435;0.516	T	0.59705	-0.7404	10	0.33940	T	0.23	-4.0586	15.6726	0.77289	0.0:0.0:0.0:1.0	.	285;341	Q7Z784;Q99615	.;DNJC7_HUMAN	P	341;285;285	ENSP00000406463:T341P;ENSP00000394327:T285P;ENSP00000313311:T285P	ENSP00000313311:T285P	T	-	1	0	DNAJC7	37389170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.241000	0.73720	0.533000	0.62120	ACA		0.393	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			6	14	0	0	0	0.001168	0	6	14				
VPS25	84313	broad.mit.edu	37	17	40925499	40925499	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:40925499G>A	ENST00000253794.2	+	1	46	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	2					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTACGATGGCGATGAGTTTCG	0.617																																							uc002ibi.2		NA																	0					0						c.(4-6)GCG>GCA		vacuolar protein sorting 25							187.0	160.0	169.0					17																	40925499		2203	4300	6503	SO:0001819	synonymous_variant	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925499G>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.6G>A	17.37:g.40925499G>A							p.A2A	NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	1	46	+		Breast(137;0.00104)	2					B2R581	Silent	SNP	ENST00000253794.2	37	c.6G>A	CCDS11438.1																																																																																				0.617	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		13	138	0	0	0	0.00245	0	13	138				
DBF4B	80174	broad.mit.edu	37	17	42807349	42807349	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:42807349G>T	ENST00000315005.3	+	4	440	c.302G>T	c.(301-303)gGg>gTg	p.G101V	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.G101V|DBF4B_ENST00000393547.2_Missense_Mutation_p.G101V	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	101	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GAGAGCAGTGGGAAAAGCCAT	0.537																																							uc002ihf.2		NA																	0					0						c.(301-303)GGG>GTG		DBF4 homolog B isoform 1							108.0	96.0	101.0					17																	42807349		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42807349G>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.302G>T	17.37:g.42807349G>T	ENSP00000323663:p.Gly101Val					DBF4B_uc002ihd.1_Missense_Mutation_p.G101V|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.G85V|DBF4B_uc002ihg.2_Missense_Mutation_p.G85V	p.G101V	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			4	515	+		Prostate(33;0.0322)	101			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.302G>T	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	0.439	-0.899646	0.02472	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	T;T;T	0.11495	2.77;2.77;2.77	4.77	0.132	0.14762	.	0.752143	0.11695	N	0.538468	T	0.06735	0.0172	N	0.25647	0.755	0.09310	N	1	B;B;B;P	0.35908	0.003;0.358;0.026;0.527	B;B;B;B	0.36289	0.003;0.221;0.006;0.221	T	0.37407	-0.9707	10	0.29301	T	0.29	-7.8301	5.0293	0.14402	0.198:0.359:0.443:0.0	.	101;85;101;101	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	V	101	ENSP00000377178:G101V;ENSP00000381381:G101V;ENSP00000323663:G101V	ENSP00000323663:G101V	G	+	2	0	DBF4B	40162875	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.527000	0.22987	0.216000	0.20781	0.561000	0.74099	GGG		0.537	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		5	83	1	0	5.9392e-07	0.001168	6.67422e-07	5	83				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43343939	43343939	+	RNA	SNP	C	C	A	rs561757277		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:43343939C>A	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		GGGCCGCCCCCGGGCCAGCAC	0.632																																							uc002iiw.1		NA																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(2542-2544)CGG>CTG		mitogen-activated protein kinase kinase kinase							80.0	91.0	87.0					17																	43343939		1954	4148	6102			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43343939C>A	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43343939C>A						LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.R378L|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.R432L	p.R848L	NM_003954	NP_003945	Q99558	M3K14_HUMAN			15	2652	-			848						Missense_Mutation	SNP	ENST00000585780.1	37	c.2543G>T		.	.	.	.	.	.	.	.	.	.	C	17.66	3.443638	0.63067	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.65	5.65	0.86999	.	0.488362	0.24336	N	0.039411	T	0.47173	0.1431	L	0.44542	1.39	0.37569	D	0.919374	B;P	0.34724	0.19;0.465	B;B	0.23150	0.03;0.044	T	0.54596	-0.8270	8	0.27082	T	0.32	.	17.0334	0.86467	0.0:1.0:0.0:0.0	.	848;378	Q99558;Q6ZMZ1	M3K14_HUMAN;.	L	847	.	ENSP00000342059:R847L	R	-	2	0	MAP3K14	40699722	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.788000	0.38714	2.941000	0.99782	0.655000	0.94253	CGG		0.632	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		17	124	1	0	5.3912e-06	0.006122	5.9351e-06	17	124				
HSF5	124535	broad.mit.edu	37	17	56536135	56536135	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:56536135A>G	ENST00000323777.3	-	5	1823	c.1714T>C	c.(1714-1716)Tcc>Ccc	p.S572P	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	572					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTACCAGGGGACTTTCCTTGT	0.423																																							uc002iwi.1		NA																	0				ovary(2)|skin(1)	3						c.(1714-1716)TCC>CCC		heat shock transcription factor family member 5							160.0	134.0	143.0					17																	56536135		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56536135A>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1714T>C	17.37:g.56536135A>G	ENSP00000313243:p.Ser572Pro						p.S572P	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			5	1838	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		572					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1714T>C	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342725	0.82022	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.75260	-0.92	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	T	0.78578	0.4305	L	0.27053	0.805	0.39282	D	0.964573	D	0.71674	0.998	D	0.75484	0.986	T	0.82204	-0.0573	10	0.87932	D	0	.	13.947	0.64091	1.0:0.0:0.0:0.0	.	572	Q4G112	HSF5_HUMAN	P	472;572	ENSP00000313243:S572P	ENSP00000313243:S572P	S	-	1	0	HSF5	53891134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.553000	0.67287	2.371000	0.80710	0.533000	0.62120	TCC		0.423	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		9	63	0	0	0	0.004482	0	9	63				
CLTC	1213	broad.mit.edu	37	17	57721770	57721770	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:57721770G>A	ENST00000269122.3	+	2	450	c.176G>A	c.(175-177)aGt>aAt	p.S59N	CLTC_ENST00000393043.1_Missense_Mutation_p.S59N|CLTC_ENST00000579456.1_Missense_Mutation_p.S59N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	59	Globular terminal domain.|WD40-like repeat 1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATGACCCAAGTAATCCAATT	0.418			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(175-177)AGT>AAT		clathrin heavy chain 1							95.0	87.0	90.0					17																	57721770		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57721770G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.176G>A	17.37:g.57721770G>A	ENSP00000269122:p.Ser59Asn					CLTC_uc002ixp.2_Missense_Mutation_p.S59N|CLTC_uc002ixr.1_Missense_Mutation_p.S59N	p.S59N	NM_004859	NP_004850	Q00610	CLH1_HUMAN			2	619	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		59			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.176G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	5.599	0.295213	0.10622	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42131	0.98;0.98	5.56	5.56	0.83823	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.043631	0.85682	D	0.000000	T	0.16557	0.0398	N	0.02368	-0.58	0.22253	N	0.999255	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.11494	-1.0585	10	0.02654	T	1	.	12.8087	0.57628	0.075:0.0:0.925:0.0	.	59;59	Q00610;Q00610-2	CLH1_HUMAN;.	N	59	ENSP00000269122:S59N;ENSP00000376763:S59N	ENSP00000269122:S59N	S	+	2	0	CLTC	55076552	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.453000	0.66645	2.600000	0.87896	0.591000	0.81541	AGT		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		13	53	0	0	0	0.001855	0	13	53				
CLTC	1213	broad.mit.edu	37	17	57725762	57725762	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:57725762G>T	ENST00000269122.3	+	4	955	c.681G>T	c.(679-681)aaG>aaT	p.K227N	CLTC_ENST00000393043.1_Splice_Site_p.K227N|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	227	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGAGGGAAGGTAAGTTTTG	0.383			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(679-681)AAG>AAT		clathrin heavy chain 1							140.0	128.0	132.0					17																	57725762		2203	4300	6503	SO:0001630	splice_region_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57725762G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.681+1G>T	17.37:g.57725762G>T						CLTC_uc002ixp.2_Missense_Mutation_p.K227N|CLTC_uc002ixr.1_Missense_Mutation_p.K231N	p.K227N	NM_004859	NP_004850	Q00610	CLH1_HUMAN			4	1124	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		227			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.681G>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382036	0.95967	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.29655	1.56;1.56	6.11	6.11	0.99139	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.042421	0.85682	D	0.000000	T	0.64472	0.2601	M	0.86502	2.82	0.80722	D	1	D;B	0.62365	0.991;0.012	D;B	0.81914	0.995;0.091	T	0.65705	-0.6103	10	0.56958	D	0.05	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	227;227	Q00610;Q00610-2	CLH1_HUMAN;.	N	227	ENSP00000269122:K227N;ENSP00000376763:K227N	ENSP00000269122:K227N	K	+	3	2	CLTC	55080544	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.781000	0.75068	2.906000	0.99361	0.655000	0.94253	AAG		0.383	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	Missense_Mutation	23	114	1	0	2.98393e-07	0.00278	3.39306e-07	23	114				
LOC101927755	101927755	broad.mit.edu	37	17	58066671	58066671	+	lincRNA	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:58066671T>A	ENST00000586209.1	+	0	158																											GCTTCTAAAATAAGTCTCTCA	0.318																																							uc002iyf.2		NA																	0					0						c.(466-468)ATT>TTT		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene, mRNA (cDNA clone IMAGE:5170263).																																						653645							g.chr17:58066671T>A																													17.37:g.58066671T>A						uc002iye.1_Intron	p.I156F	NR_002924						9	701	-									Missense_Mutation	SNP	ENST00000586209.1	37	c.466A>T																																																																																					0.318	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			2	6	0	0	0	0.004672	0	2	6				
USP32	84669	broad.mit.edu	37	17	58343443	58343443	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:58343443T>A	ENST00000300896.4	-	8	1015	c.821A>T	c.(820-822)aAg>aTg	p.K274M	USP32_ENST00000393003.3_Missense_Mutation_p.K274M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	274	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCAAATACCTTGAAGCAAAC	0.368																																							uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(820-822)AAG>ATG		ubiquitin specific protease 32							103.0	100.0	101.0					17																	58343443		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58343443T>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.821A>T	17.37:g.58343443T>A	ENSP00000300896:p.Lys274Met					USP32_uc010wov.1_Missense_Mutation_p.K274M	p.K274M	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		8	1107	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		274			EF-hand 3.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.821A>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124006	0.77436	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.48201	0.82;0.82	5.6	4.52	0.55395	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	M	0.83118	2.625	0.80722	D	1	D;D	0.53462	0.957;0.96	P;P	0.59171	0.853;0.733	T	0.69741	-0.5063	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0723:0.0:0.9277	.	274;274	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	M	274	ENSP00000300896:K274M;ENSP00000376727:K274M	ENSP00000300896:K274M	K	-	2	0	USP32	55698225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.809000	0.86057	0.950000	0.37743	0.482000	0.46254	AAG		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		20	95	0	0	0	0.010504	0	20	95				
TBX4	9496	broad.mit.edu	37	17	59560342	59560342	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:59560342G>A	ENST00000240335.1	+	8	1148	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.R369H	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	368					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTATTTCCGTTCCCCCCCT	0.562																																							uc002izi.2		NA																	0				skin(2)	2						c.(1102-1104)CGT>CAT		T-box 4							68.0	59.0	62.0					17																	59560342		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560342G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1103G>A	17.37:g.59560342G>A	ENSP00000240335:p.Arg368His					TBX4_uc010ddo.2_Missense_Mutation_p.R369H|TBX4_uc010woy.1_Missense_Mutation_p.R369H	p.R368H	NM_018488	NP_060958	P57082	TBX4_HUMAN			8	1148	+			368					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.1103G>A	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054202	0.93793	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.54479	0.57;0.57	5.51	5.51	0.81932	.	0.729204	0.14193	N	0.335215	T	0.74114	0.3674	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.76575	0.988;0.719	T	0.72124	-0.4385	9	.	.	.	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	369;368	A5PKU7;P57082	.;TBX4_HUMAN	H	369;368	ENSP00000377435:R369H;ENSP00000240335:R368H	.	R	+	2	0	TBX4	56915124	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.411000	0.97342	2.590000	0.87494	0.655000	0.94253	CGT		0.562	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		20	30	0	0	0	0.010504	0	20	30				
TANC2	26115	broad.mit.edu	37	17	61492920	61492920	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:61492920A>G	ENST00000424789.2	+	23	3804	c.3800A>G	c.(3799-3801)tAc>tGc	p.Y1267C	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Y1277C|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1267					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCCAGCGCTACCAGTACGCC	0.512																																							uc002jal.3		NA																	0				ovary(2)	2						c.(3799-3801)TAC>TGC		tetratricopeptide repeat, ankyrin repeat and							88.0	87.0	87.0					17																	61492920		1943	4146	6089	SO:0001583	missense	26115						binding	g.chr17:61492920A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3800A>G	17.37:g.61492920A>G	ENSP00000387593:p.Tyr1267Cys					TANC2_uc010wpe.1_Missense_Mutation_p.Y1177C|TANC2_uc002jao.3_Missense_Mutation_p.Y378C	p.Y1267C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			23	3823	+			1267			TPR 1.		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.3800A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750056	0.89753	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.80393	-1.37;-1.37	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Ankyrin repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.924;1.0	D	0.94205	0.7453	10	0.52906	T	0.07	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	1277;1267	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	1277;1267	ENSP00000374171:Y1277C;ENSP00000387593:Y1267C	ENSP00000374171:Y1277C	Y	+	2	0	TANC2	58846652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.191000	0.70037	0.533000	0.62120	TAC		0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			3	31	0	0	0	0.009096	0	3	31				
STRADA	92335	broad.mit.edu	37	17	61787867	61787867	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:61787867T>C	ENST00000336174.6	-	8	677	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	STRADA_ENST00000245865.5_Missense_Mutation_p.M131V|STRADA_ENST00000447001.3_Missense_Mutation_p.M145V|STRADA_ENST00000582137.1_Missense_Mutation_p.M160V|STRADA_ENST00000392950.4_Missense_Mutation_p.M152V|STRADA_ENST00000579340.1_Missense_Mutation_p.M131V|STRADA_ENST00000375840.4_Missense_Mutation_p.M131V|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ACATATCCCATGTGGTGGATG	0.498																																							uc002jbm.2		NA																	0				ovary(1)	1						c.(565-567)ATG>GTG		STE20-related kinase adaptor alpha isoform 1							111.0	92.0	99.0					17																	61787867		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787867T>C	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.565A>G	17.37:g.61787867T>C	ENSP00000336655:p.Met189Val					STRADA_uc002jbn.2_Missense_Mutation_p.M131V|STRADA_uc002jbo.2_Missense_Mutation_p.M152V|STRADA_uc002jbp.2_Missense_Mutation_p.M152V|STRADA_uc002jbq.2_Missense_Mutation_p.M131V|STRADA_uc010wpq.1_Missense_Mutation_p.M145V|STRADA_uc010wpr.1_Missense_Mutation_p.M160V|STRADA_uc010ddw.2_Missense_Mutation_p.M160V|STRADA_uc002jbr.2_Missense_Mutation_p.M131V	p.M189V	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			8	724	-			189			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.565A>G	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314342	0.40996	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	L	0.45051	1.395	0.80722	D	1	P;D;D;P;P;D;P	0.63046	0.956;0.989;0.992;0.732;0.954;0.992;0.924	P;P;D;B;P;D;P	0.76071	0.738;0.746;0.987;0.337;0.651;0.984;0.719	T	0.73981	-0.3811	10	0.51188	T	0.08	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	160;145;131;131;152;152;189	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	V	189;131;145;152;151	ENSP00000336655:M189V;ENSP00000365000:M131V;ENSP00000398841:M145V;ENSP00000376677:M152V	ENSP00000245865:M151V	M	-	1	0	STRADA	59141599	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.698000	0.84413	2.197000	0.70478	0.454000	0.30748	ATG		0.498	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			5	85	0	0	0	0.001168	0	5	85				
GH1	2688	broad.mit.edu	37	17	61995822	61995822	+	Missense_Mutation	SNP	G	G	A	rs376449159		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:61995822G>A	ENST00000323322.5	-	2	97	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	GH1_ENST00000351388.4_Missense_Mutation_p.P19S|GH1_ENST00000342364.4_Missense_Mutation_p.P19S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.P19S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	19					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGAAGCCAGGGCAGGCAGAGC	0.612																																							uc002jdj.2		NA																	0					0						c.(55-57)CCC>TCC		growth hormone 1 isoform 1		G	,SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	111.0	115.0	114.0		,55,55,55,55	2.9	1.0	17		114	0,8600		0,0,4300	no	intron,missense,missense,missense,missense	GH1	NM_022562.2,NM_022561.2,NM_022560.2,NM_022559.2,NM_000515.3	,74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,benign,benign,benign	,19/123,19/178,19/203,19/218	61995822	1,13005	2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995822G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.55C>T	17.37:g.61995822G>A	ENSP00000312673:p.Pro19Ser					GH1_uc002jdi.2_Missense_Mutation_p.P19S|GH1_uc002jdk.2_Missense_Mutation_p.P19S|GH1_uc002jdl.2_Missense_Mutation_p.P19S|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.P19S	p.P19S	NM_000515	NP_000506	P01241	SOMA_HUMAN			2	117	-			19					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.55C>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	1.205	-0.631379	0.03584	2.27E-4	0.0	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	2.86	2.86	0.33363	.	0.825013	0.11207	N	0.588094	D	0.87002	0.6069	M	0.79011	2.435	0.21984	N	0.999431	B;P;B;B;B	0.50443	0.003;0.935;0.002;0.155;0.155	B;B;B;B;B	0.43950	0.007;0.437;0.061;0.314;0.314	T	0.78239	-0.2281	10	0.46703	T	0.11	.	9.3531	0.38151	0.0:0.0:1.0:0.0	.	19;19;19;19;19	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	S	19	ENSP00000312673:P19S;ENSP00000408486:P19S;ENSP00000343791:P19S;ENSP00000339278:P19S	ENSP00000312673:P19S	P	-	1	0	GH1	59349554	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	1.319000	0.33655	1.594000	0.50039	0.298000	0.19748	CCC		0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		28	126	0	0	0	0.00632	0	28	126				
SMURF2	64750	broad.mit.edu	37	17	62574681	62574681	+	Silent	SNP	C	C	T	rs189660096	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:62574681C>T	ENST00000262435.9	-	9	973	c.786G>A	c.(784-786)acG>acA	p.T262T	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	262	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGCCTTGTTGCGTTGTCCTCT	0.373													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15637	0.0		0.0	False		,,,				2504	0.0						uc002jep.1		NA																	0				skin(3)|lung(1)	4						c.(784-786)ACG>ACA		SMAD specific E3 ubiquitin protein ligase 2							134.0	111.0	118.0					17																	62574681		2203	4300	6503	SO:0001819	synonymous_variant	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62574681C>T	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.786G>A	17.37:g.62574681C>T						SMURF2_uc002jeq.1_Silent_p.T21T|SMURF2_uc002jer.1_Silent_p.T21T	p.T262T	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		9	1174	-	Breast(5;1.32e-14)		262	Missing: Abolishes interaction with SMAD2 and SMAD7.		WW 2.		Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	c.786G>A	CCDS32707.1																																																																																				0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		7	41	0	0	0	0.00308	0	7	41				
RGS9	8787	broad.mit.edu	37	17	63221362	63221362	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:63221362G>A	ENST00000262406.9	+	18	1717	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	RGS9_ENST00000449996.3_Silent_p.G547G|RGS9_ENST00000443584.3_Silent_p.G547G	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	550					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCCCCGTGGGCCCTCTGTCA	0.682																																							uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(1648-1650)GGG>GGA		regulator of G-protein signaling 9 isoform 1							69.0	78.0	75.0					17																	63221362		1968	4147	6115	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221362G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1650G>A	17.37:g.63221362G>A						RGS9_uc010dem.2_Silent_p.G547G|RGS9_uc002jfd.2_Silent_p.G547G|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.G321G	p.G550G	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1760	+			550					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.1650G>A	CCDS42373.1																																																																																				0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		19	119	0	0	0	0.007413	0	19	119				
SLC16A6	9120	broad.mit.edu	37	17	66267675	66267675	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:66267675G>A	ENST00000327268.4	-	6	790	c.626C>T	c.(625-627)gCg>gTg	p.A209V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A209V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	209					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTCGGTGACGCTGGTCCTCT	0.463																																							uc002jgz.1		NA																	0					0						c.(625-627)GCG>GTG		solute carrier family 16, member 6	Pyruvic acid(DB00119)						135.0	129.0	131.0					17																	66267675		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267675G>A	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.626C>T	17.37:g.66267675G>A	ENSP00000319991:p.Ala209Val					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A209V	p.A209V	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	814	-	all_cancers(12;1.24e-09)		209			Cytoplasmic (Potential).		Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.626C>T	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	G	2.196	-0.384130	0.04966	.	.	ENSG00000108932	ENST00000327268	T	0.58797	0.31	4.33	-1.21	0.09524	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	6.018050	0.01884	N	0.038051	T	0.38401	0.1039	N	0.24115	0.695	0.09310	N	1	B	0.22851	0.076	B	0.12156	0.007	T	0.05699	-1.0869	10	0.30078	T	0.28	.	1.2676	0.02014	0.1505:0.2753:0.1483:0.4259	.	209	O15403	MOT7_HUMAN	V	209	ENSP00000319991:A209V	ENSP00000319991:A209V	A	-	2	0	SLC16A6	63779270	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.120000	0.10660	-0.386000	0.07821	-1.521000	0.00933	GCG		0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		16	89	0	0	0	0.00499	0	16	89				
ABCA6	23460	broad.mit.edu	37	17	67082829	67082829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:67082829C>A	ENST00000284425.2	-	30	4041	c.3867G>T	c.(3865-3867)caG>caT	p.Q1289H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1289	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AACTTTTCTTCTGGCCTGCAT	0.353																																							uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(3865-3867)CAG>CAT		ATP-binding cassette, sub-family A, member 6							140.0	132.0	135.0					17																	67082829		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67082829C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3867G>T	17.37:g.67082829C>A	ENSP00000284425:p.Gln1289His						p.Q1289H	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			30	4042	-	Breast(10;5.65e-12)		1289			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.3867G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462428	0.43736	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86769	-2.17	4.46	1.73	0.24493	ABC transporter-like (1);	0.676716	0.12744	N	0.442772	T	0.79633	0.4479	N	0.08118	0	0.80722	D	1	B	0.31968	0.349	B	0.42738	0.396	T	0.75365	-0.3343	10	0.87932	D	0	.	10.028	0.42083	0.0:0.8061:0.0:0.1939	.	1289	Q8N139	ABCA6_HUMAN	H	1289;149	ENSP00000284425:Q1289H	ENSP00000284425:Q1289H	Q	-	3	2	ABCA6	64594424	0.951000	0.32395	0.779000	0.31741	0.994000	0.84299	0.599000	0.24089	0.567000	0.29293	0.650000	0.86243	CAG		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		16	63	1	0	5.01169e-05	0.00499	5.40255e-05	16	63				
KCNJ2	3759	broad.mit.edu	37	17	68171776	68171776	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:68171776C>T	ENST00000243457.3	+	2	979	c.596C>T	c.(595-597)gCc>gTc	p.A199V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A199V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	199					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGTCACAATGCCGTGATTGCC	0.512																																							uc010dfg.2		NA																	0					0						c.(595-597)GCC>GTC		potassium inwardly-rectifying channel J2							139.0	113.0	122.0					17																	68171776		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171776C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.596C>T	17.37:g.68171776C>T	ENSP00000243457:p.Ala199Val					KCNJ2_uc002jir.2_Missense_Mutation_p.A199V	p.A199V	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	997	+	Breast(10;1.64e-08)		199			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.596C>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238587	0.58886	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94723	-3.5;-3.5	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99211	1.0876	9	.	.	.	.	19.9664	0.97271	0.0:1.0:0.0:0.0	.	199	P63252	IRK2_HUMAN	V	199	ENSP00000441848:A199V;ENSP00000243457:A199V	.	A	+	2	0	KCNJ2	65683371	1.000000	0.71417	0.573000	0.28510	0.296000	0.27459	7.818000	0.86416	2.718000	0.92993	0.655000	0.94253	GCC		0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		11	78	0	0	0	0.008291	0	11	78				
CDC42EP4	23580	broad.mit.edu	37	17	71282358	71282358	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:71282358C>A	ENST00000335793.3	-	2	676	c.282G>T	c.(280-282)agG>agT	p.R94S	CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	94					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGCTCCCCCCTGGTCACCG	0.622																																							uc002jjn.2		NA																	0					0						c.(280-282)AGG>AGT		Cdc42 effector protein 4							46.0	46.0	46.0					17																	71282358		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282358C>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.282G>T	17.37:g.71282358C>A	ENSP00000338258:p.Arg94Ser					CDC42EP4_uc002jjo.2_Missense_Mutation_p.R94S|CDC42EP4_uc002jjp.1_Intron	p.R94S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	429	-			94					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.282G>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850761	0.51270	.	.	ENSG00000179604	ENST00000335793	T	0.38077	1.16	4.82	1.71	0.24356	.	0.000000	0.53938	D	0.000045	T	0.48003	0.1476	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52741	-0.8535	10	0.17832	T	0.49	-27.3697	1.1919	0.01867	0.1446:0.368:0.1412:0.3462	.	94	Q9H3Q1	BORG4_HUMAN	S	94	ENSP00000338258:R94S	ENSP00000338258:R94S	R	-	3	2	CDC42EP4	68793953	0.004000	0.15560	0.841000	0.33234	0.669000	0.39330	-0.750000	0.04808	0.107000	0.17824	-0.350000	0.07774	AGG		0.622	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		18	69	1	0	5.3912e-06	0.006122	5.9351e-06	18	69				
SDK2	54549	broad.mit.edu	37	17	71386573	71386573	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:71386573T>C	ENST00000392650.3	-	29	4045	c.4045A>G	c.(4045-4047)Act>Gct	p.T1349A	SDK2_ENST00000388726.3_Missense_Mutation_p.T1349A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1349	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTCCACAGTGGCGGTGTTG	0.622																																							uc010dfm.2		NA																	0				ovary(2)	2						c.(4045-4047)ACT>GCT		sidekick 2							64.0	37.0	46.0					17																	71386573		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71386573T>C	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4045A>G	17.37:g.71386573T>C	ENSP00000376421:p.Thr1349Ala					SDK2_uc002jjt.3_Missense_Mutation_p.T508A|SDK2_uc010dfn.2_Missense_Mutation_p.T1028A	p.T1349A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			29	4045	-			1349			Fibronectin type-III 8.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4045A>G	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100060	0.37048	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56611	0.45;0.45;0.45	5.2	-5.31	0.02730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.428871	0.26975	N	0.021553	T	0.33847	0.0877	L	0.54323	1.7	0.28256	N	0.925036	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24693	-1.0153	10	0.16896	T	0.51	.	5.0897	0.14702	0.3096:0.3203:0.0:0.3701	.	1349;1349;1349	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	A	973;1349;1349;525;1349	ENSP00000376421:T1349A;ENSP00000373378:T1349A;ENSP00000407098:T525A	ENSP00000324967:T1349A	T	-	1	0	SDK2	68898168	1.000000	0.71417	0.050000	0.19076	0.871000	0.50021	0.592000	0.23984	-0.594000	0.05836	0.459000	0.35465	ACT		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	25	0	0	0	0.004672	0	3	25				
KIF19	124602	broad.mit.edu	37	17	72348278	72348278	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:72348278T>C	ENST00000389916.4	+	13	1996		c.e13+2		AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19						ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCATCGACGGTAGGGCCCACG	0.721																																							uc002jkm.3		NA																	0					0						c.e13+2		kinesin family member 19							17.0	21.0	20.0					17																	72348278		1965	4129	6094	SO:0001630	splice_region_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348278T>C	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1858+2T>C	17.37:g.72348278T>C						KIF19_uc002jkl.2_Splice_Site_p.D578_splice	p.D620_splice	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			13	1996	+								A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Splice_Site	SNP	ENST00000389916.4	37	c.1858_splice	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525507	0.44969	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4691	0.67504	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF19	69859873	1.000000	0.71417	0.751000	0.31187	0.018000	0.09664	7.151000	0.77411	2.064000	0.61679	0.454000	0.30748	.		0.721	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	Intron	4	22	0	0	0	0.009096	0	4	22				
C17orf77	146723	broad.mit.edu	37	17	72588262	72588262	+	Missense_Mutation	SNP	C	C	T	rs139741461		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:72588262C>T	ENST00000392620.1	+	3	439	c.77C>T	c.(76-78)cCg>cTg	p.P26L	C17orf77_ENST00000328023.2_Missense_Mutation_p.P26L|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	26						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CCAAGCCAGCCGCTGTCATTC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.0						uc002jla.1		NA																	0					0						c.(76-78)CCG>CTG		hypothetical protein LOC146723		C	LEU/PRO,	2,4404	4.2+/-10.8	0,2,2201	87.0	86.0	86.0		77,	-0.4	0.0	17	dbSNP_134	86	0,8600		0,0,4300	no	missense,intron	C17orf77,CD300LD	NM_152460.2,NM_001115152.1	98,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,	26/244,	72588262	2,13004	2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588262C>T		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.77C>T	17.37:g.72588262C>T	ENSP00000376396:p.Pro26Leu					CD300LD_uc002jkz.2_Intron	p.P26L	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	439	+			26						Missense_Mutation	SNP	ENST00000392620.1	37	c.77C>T	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435566	0.12104	4.54E-4	0.0	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.56941	0.43;0.43	3.16	-0.388	0.12459	.	.	.	.	.	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	P	0.50272	0.933	B	0.33846	0.171	T	0.22591	-1.0212	9	0.87932	D	0	.	1.1736	0.01830	0.2471:0.407:0.2032:0.1427	.	26	Q96MU5	CQ077_HUMAN	L	26	ENSP00000376396:P26L;ENSP00000329353:P26L	ENSP00000329353:P26L	P	+	2	0	C17orf77	70099857	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.370000	0.07523	-0.022000	0.13986	-0.407000	0.06327	CCG		0.527	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		13	89	0	0	0	0.00245	0	13	89				
C17orf77	146723	broad.mit.edu	37	17	72588589	72588589	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:72588589A>T	ENST00000392620.1	+	3	766	c.404A>T	c.(403-405)gAa>gTa	p.E135V	C17orf77_ENST00000328023.2_Missense_Mutation_p.E135V|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	135						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTGGAAAAGAAAATGTGTCC	0.483																																							uc002jla.1		NA																	0					0						c.(403-405)GAA>GTA		hypothetical protein LOC146723							136.0	128.0	131.0					17																	72588589		2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588589A>T		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.404A>T	17.37:g.72588589A>T	ENSP00000376396:p.Glu135Val					CD300LD_uc002jkz.2_5'Flank	p.E135V	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	766	+			135						Missense_Mutation	SNP	ENST00000392620.1	37	c.404A>T	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	A	3.355	-0.131767	0.06753	.	.	ENSG00000182352	ENST00000392620;ENST00000328023	T;T	0.55413	0.52;0.52	1.53	-0.422	0.12329	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.32022	0.139	T	0.12734	-1.0536	8	.	.	.	.	5.0277	0.14393	0.4589:0.5411:0.0:0.0	.	135	Q96MU5	CQ077_HUMAN	V	135	ENSP00000376396:E135V;ENSP00000329353:E135V	.	E	+	2	0	C17orf77	70100184	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.645000	0.00861	-0.166000	0.10890	0.496000	0.49642	GAA		0.483	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		18	107	0	0	0	0.008871	0	18	107				
NUP85	79902	broad.mit.edu	37	17	73228076	73228076	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:73228076T>C	ENST00000245544.4	+	14	1467		c.e14+2		NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000447371.2_Splice_Site|NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTGAACAAGGTGAGCTGGCCC	0.592																																							uc002jng.1		NA																	0				ovary(1)	1						c.e14+2		nucleoporin 85							38.0	36.0	36.0					17																	73228076		2203	4300	6503	SO:0001630	splice_region_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73228076T>C	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1396+2T>C	17.37:g.73228076T>C						NUP85_uc010dgd.1_Splice_Site_p.V421_splice|NUP85_uc010wrv.1_Splice_Site_p.V420_splice|NUP85_uc002jnh.1_Splice_Site_p.V69_splice	p.V466_splice	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1656	+	all_lung(278;0.14)|Lung NSC(278;0.168)							B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Splice_Site	SNP	ENST00000245544.4	37	c.1396_splice	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247253	0.80024	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0758	0.72077	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP85	70739671	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.273000	0.72581	2.107000	0.64212	0.459000	0.35465	.		0.592	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844	Intron	4	33	0	0	0	0.009096	0	4	33				
SLC25A19	60386	broad.mit.edu	37	17	73273474	73273474	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:73273474T>G	ENST00000402418.3	-	5	1643	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	SLC25A19_ENST00000320362.3_Missense_Mutation_p.Q245P|SLC25A19_ENST00000375261.4_Missense_Mutation_p.Q188P|SLC25A19_ENST00000416858.2_Missense_Mutation_p.Q245P|SLC25A19_ENST00000442286.2_Missense_Mutation_p.Q245P|SLC25A19_ENST00000580994.1_Missense_Mutation_p.Q245P			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	245					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CCCTCCAACCTGTAGCCGCTT	0.567																																							uc002jns.3		NA																	0				ovary(1)	1						c.(733-735)CAG>CCG		solute carrier family 25, member 19							95.0	79.0	85.0					17																	73273474		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73273474T>G		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.734A>C	17.37:g.73273474T>G	ENSP00000385312:p.Gln245Pro					SLC25A19_uc010dge.2_Missense_Mutation_p.Q188P|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q245P	p.Q245P	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		5	1644	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		245			Solcar 3.|Substrate recognition (By similarity).		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.734A>C	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557161	0.86231	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.35	5.35	0.76521	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97303	0.9932	10	0.87932	D	0	-20.1993	15.0367	0.71754	0.0:0.0:0.0:1.0	.	188;245	E9PF74;Q9HC21	.;TPC_HUMAN	P	245;245;245;245;188	ENSP00000397818:Q245P;ENSP00000402202:Q245P;ENSP00000319574:Q245P;ENSP00000385312:Q245P;ENSP00000364410:Q188P	ENSP00000319574:Q245P	Q	-	2	0	SLC25A19	70785069	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.698000	0.84413	2.033000	0.60031	0.528000	0.53228	CAG		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		5	63	0	0	0	0.001168	0	5	63				
LGALS3BP	3959	broad.mit.edu	37	17	76972045	76972045	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:76972045A>T	ENST00000262776.3	-	3	553		c.e3+1		LGALS3BP_ENST00000591778.1_Splice_Site|LGALS3BP_ENST00000585407.1_Splice_Site	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein						cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGCAGGCCCTACCTTGCCCGA	0.622																																					GBM(89;1105 1755 18102 21513)	GBM(89;1105 1755 18102 21513)	uc002jwh.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.e3+1		galectin 3 binding protein							30.0	25.0	27.0					17																	76972045		2202	4299	6501	SO:0001630	splice_region_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76972045A>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.244+1T>A	17.37:g.76972045A>T						LGALS3BP_uc002jwi.2_Intron|LGALS3BP_uc010dhr.2_Intron	p.G82_splice	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	423	-								Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Splice_Site	SNP	ENST00000262776.3	37	c.244_splice	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	A	4.796	0.147947	0.09134	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	.	.	.	3.54	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6727	0.28468	0.8108:0.0:0.0:0.1892	.	.	.	.	.	-1	.	.	.	-	.	.	LGALS3BP	74483640	0.961000	0.32948	0.615000	0.29064	0.007000	0.05969	1.949000	0.40313	0.713000	0.32060	-0.333000	0.08304	.		0.622	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567	Intron	4	18	0	0	0	0.009096	0	4	18				
CEP131	22994	broad.mit.edu	37	17	79180632	79180632	+	Missense_Mutation	SNP	G	G	A	rs146148645	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:79180632G>A	ENST00000269392.4	-	5	674	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	AZI1_ENST00000374782.3_Missense_Mutation_p.R143W|AZI1_ENST00000450824.2_Missense_Mutation_p.R143W|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000575907.1_Missense_Mutation_p.R143W	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		143					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGGAACTCCGGGCATTGGAT	0.632													g|||	6	0.00119808	0.0038	0.0	5008	,	,		15717	0.0		0.0	False		,,,				2504	0.001						uc002jzp.1		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(427-429)CGG>TGG		5-azacytidine induced 1 isoform a			TRP/ARG,TRP/ARG	32,4374	38.4+/-70.7	1,30,2172	62.0	72.0	68.0		427,427	1.2	0.0	17	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	AZI1	NM_001009811.2,NM_014984.2	101,101	1,31,6471	AA,AG,GG		0.0116,0.7263,0.2537	probably-damaging,probably-damaging	143/1045,143/1081	79180632	33,12973	2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79180632G>A																												ENST00000269392.4:c.427C>T	17.37:g.79180632G>A	ENSP00000269392:p.Arg143Trp					AZI1_uc002jzn.1_Missense_Mutation_p.R143W|AZI1_uc002jzo.1_Missense_Mutation_p.R143W|AZI1_uc010wum.1_Missense_Mutation_p.R143W	p.R143W	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	627	-	all_neural(118;0.0804)|Melanoma(429;0.242)		143					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.427C>T		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	15.84	2.951296	0.53186	0.007263	1.16E-4	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.19394	2.15;2.15;2.16	4.52	1.21	0.21127	.	0.492954	0.20657	N	0.088097	T	0.11410	0.0278	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.17465	0.002;0.002;0.005;0.022	B;B;B;B	0.13407	0.003;0.002;0.009;0.007	T	0.19224	-1.0312	10	0.87932	D	0	-4.522	5.1011	0.14760	0.2291:0.3142:0.4567:0.0	.	143;143;143;143	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	W	143	ENSP00000393583:R143W;ENSP00000363914:R143W;ENSP00000269392:R143W	ENSP00000269392:R143W	R	-	1	2	AZI1	76795227	0.663000	0.27448	0.000000	0.03702	0.761000	0.43186	2.198000	0.42705	0.119000	0.18210	0.384000	0.25694	CGG		0.632	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			17	65	0	0	0	0.007413	0	17	65				
TSPAN10	83882	broad.mit.edu	37	17	79612332	79612332	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:79612332C>T	ENST00000572675.1	+	0	351				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCCCCTGCCCGCAGACCCCA	0.687																																							uc010die.2		NA																	0				ovary(1)	1						c.(349-351)CCC>CCT		tetraspanin 10							24.0	30.0	28.0					17																	79612332		1910	4120	6030			83882					integral to membrane		g.chr17:79612332C>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612332C>T						TSPAN10_uc002kaw.1_Silent_p.P117P|TSPAN10_uc010did.1_RNA	p.P117P	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	441	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		117					Q8N548	Silent	SNP	ENST00000572675.1	37	c.351C>T																																																																																					0.687	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		14	54	0	0	0	0.003163	0	14	54				
CLUL1	27098	broad.mit.edu	37	18	633357	633357	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:633357G>T	ENST00000400606.2	+	6	1061	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	CLUL1_ENST00000581619.1_Missense_Mutation_p.G331W|CLUL1_ENST00000579494.1_Missense_Mutation_p.G306W|CLUL1_ENST00000540035.1_Missense_Mutation_p.G358W|CLUL1_ENST00000338387.7_Missense_Mutation_p.G306W	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	306					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGGACTGTGTGGGGAACTTGA	0.403																																							uc002kkp.2		NA																	0				ovary(2)	2						c.(916-918)GGG>TGG		clusterin-like 1 (retinal) precursor							102.0	100.0	101.0					18																	633357		1850	4096	5946	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:633357G>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.916G>T	18.37:g.633357G>T	ENSP00000383449:p.Gly306Trp					CLUL1_uc010wys.1_Missense_Mutation_p.G358W|CLUL1_uc002kkq.2_Missense_Mutation_p.G306W	p.G306W	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			6	1061	+			306					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.916G>T	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137409	0.37728	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.23754	1.89;1.89;1.89	5.43	4.44	0.53790	Clusterin, C-terminal (1);	0.327136	0.35179	N	0.003381	T	0.37019	0.0988	L	0.51422	1.61	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.27434	-1.0074	10	0.66056	D	0.02	-4.8299	4.0565	0.09819	0.2574:0.0:0.7426:0.0	.	358;306	F5GWQ8;Q15846	.;CLUL1_HUMAN	W	306;358;306	ENSP00000383449:G306W;ENSP00000441726:G358W;ENSP00000341128:G306W	ENSP00000341128:G306W	G	+	1	0	CLUL1	623357	0.988000	0.35896	0.040000	0.18447	0.306000	0.27790	2.557000	0.45871	2.543000	0.85770	0.655000	0.94253	GGG		0.403	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			8	33	1	0	0.00307968	0.00308	0.0032006	8	33				
C18orf8	29919	broad.mit.edu	37	18	21106650	21106650	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:21106650A>G	ENST00000269221.3	+	13	1220	c.1110A>G	c.(1108-1110)ttA>ttG	p.L370L	C18orf8_ENST00000590868.1_Silent_p.L322L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	370						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAAATCTCTTACCAGACAAAG	0.428																																							uc010xax.1		NA																	0				ovary(1)	1						c.(1108-1110)TTA>TTG		colon cancer-associated protein Mic1							89.0	85.0	86.0					18																	21106650		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21106650A>G	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1110A>G	18.37:g.21106650A>G						C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_5'UTR	p.L370L	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			14	1231	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		370					Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.1110A>G	CCDS32803.1																																																																																				0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		8	56	0	0	0	0.00308	0	8	56				
CABYR	26256	broad.mit.edu	37	18	21736785	21736785	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:21736785T>C	ENST00000399481.2	+	2	1178	c.1026T>C	c.(1024-1026)tcT>tcC	p.S342S	RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	440					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GGGAAAACTCTGTACCCCAGG	0.498																																							uc002kux.2		NA																	0					0						c.(1318-1320)TCT>TCC		calcium-binding tyrosine							49.0	49.0	49.0					18																	21736785		2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736785T>C	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.1026T>C	18.37:g.21736785T>C						CABYR_uc010xbb.1_Silent_p.S342S|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Silent_p.S422S|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	p.S440S	NM_012189	NP_036321	O75952	CABYR_HUMAN			4	1472	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		440					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399481.2	37	c.1320T>C																																																																																					0.498	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		12	67	0	0	0	0.000978	0	12	67				
SLC25A52	147407	broad.mit.edu	37	18	29340530	29340530	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:29340530T>A	ENST00000579441.2	-	1	94	c.95A>T	c.(94-96)aAg>aTg	p.K32M	SLC25A52_ENST00000269205.5_Missense_Mutation_p.K42M			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	32					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CAAGTAATGCTTCATTTCACC	0.413																																							uc002kxa.2		NA																	0				skin(1)	1						c.(94-96)AAG>ATG		mitochondrial carrier triple repeat 2							104.0	99.0	101.0					18																	29340530		2203	4298	6501	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340530T>A		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.95A>T	18.37:g.29340530T>A	ENSP00000462754:p.Lys32Met						p.K32M	NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0539)		1	314	-			32			Solcar 1.			Missense_Mutation	SNP	ENST00000579441.2	37	c.95A>T		.	.	.	.	.	.	.	.	.	.	T	15.70	2.909612	0.52439	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.80566	-1.39	0.731	0.731	0.18277	Mitochondrial carrier domain (2);	0.356039	0.27725	N	0.018114	D	0.85371	0.5681	M	0.73753	2.245	0.39784	D	0.97234	D	0.71674	0.998	D	0.72338	0.977	D	0.83385	0.0014	10	0.66056	D	0.02	.	5.6612	0.17670	0.0:0.0:0.0:1.0	.	32	Q3SY17	MCAR2_HUMAN	M	42;32	ENSP00000372612:K42M	ENSP00000372612:K42M	K	-	2	0	MCART2	27594528	1.000000	0.71417	0.837000	0.33122	0.490000	0.33462	3.442000	0.52900	0.551000	0.29008	0.418000	0.28097	AAG		0.413	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		25	51	0	0	0	0.00278	0	25	51				
KLHL14	57565	broad.mit.edu	37	18	30350097	30350097	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:30350097G>A	ENST00000359358.4	-	2	896	c.458C>T	c.(457-459)aCg>aTg	p.T153M	KLHL14_ENST00000358095.4_Missense_Mutation_p.T153M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	153						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTCCTCCACCGTGTCCAGGGA	0.622																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(457-459)ACG>ATG		kelch-like 14							97.0	91.0	93.0					18																	30350097		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350097G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.458C>T	18.37:g.30350097G>A	ENSP00000352314:p.Thr153Met						p.T153M	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	846	-			153					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.458C>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099785	0.20552	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.68624	-0.34;-0.34	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.053370	0.64402	D	0.000001	T	0.61489	0.2351	L	0.46157	1.445	0.54753	D	0.999989	P	0.46952	0.887	B	0.43575	0.424	T	0.67608	-0.5627	10	0.87932	D	0	.	11.864	0.52482	0.0899:0.0:0.9101:0.0	.	153	Q9P2G3	KLH14_HUMAN	M	153	ENSP00000352314:T153M;ENSP00000350808:T153M	ENSP00000350808:T153M	T	-	2	0	KLHL14	28604095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.615000	0.67702	2.141000	0.66446	0.460000	0.39030	ACG		0.622	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			8	76	0	0	0	0.00308	0	8	76				
ASXL3	80816	broad.mit.edu	37	18	31319230	31319230	+	Missense_Mutation	SNP	C	C	G	rs368683930		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:31319230C>G	ENST00000269197.5	+	11	1862	c.1862C>G	c.(1861-1863)gCc>gGc	p.A621G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	621	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGAGGGAGCCTGTACCAGC	0.478																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1861-1863)GCC>GGC		additional sex combs like 3							47.0	49.0	48.0					18																	31319230		1890	4102	5992	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319230C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1862C>G	18.37:g.31319230C>G	ENSP00000269197:p.Ala621Gly					ASXL3_uc002kxq.2_Missense_Mutation_p.A328G	p.A621G	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1917	+			621			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1862C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801300	0.31869	.	.	ENSG00000141431	ENST00000269197	T	0.17213	2.29	5.46	1.67	0.24075	.	1.455250	0.04006	N	0.297350	T	0.17408	0.0418	L	0.47716	1.5	0.29708	N	0.83964	B	0.17465	0.022	B	0.12156	0.007	T	0.28933	-1.0028	10	0.30854	T	0.27	.	7.2452	0.26117	0.0:0.6707:0.1229:0.2064	.	621	Q9C0F0	ASXL3_HUMAN	G	621	ENSP00000269197:A621G	ENSP00000269197:A621G	A	+	2	0	ASXL3	29573228	0.397000	0.25270	0.973000	0.42090	0.992000	0.81027	0.675000	0.25232	0.088000	0.17205	0.460000	0.39030	GCC		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			23	15	0	0	0	0.003954	0	23	15				
ASXL3	80816	broad.mit.edu	37	18	31325513	31325513	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:31325513C>A	ENST00000269197.5	+	12	5701	c.5701C>A	c.(5701-5703)Ctc>Atc	p.L1901I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1901					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAGCGGCTGCTCCCCTCGTG	0.493																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5701-5703)CTC>ATC		additional sex combs like 3							137.0	141.0	139.0					18																	31325513		2022	4174	6196	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325513C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5701C>A	18.37:g.31325513C>A	ENSP00000269197:p.Leu1901Ile					ASXL3_uc002kxq.2_Missense_Mutation_p.L1608I	p.L1901I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5756	+			1901					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5701C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580097	0.46006	.	.	ENSG00000141431	ENST00000269197	T	0.25912	1.77	5.59	4.71	0.59529	.	.	.	.	.	T	0.34483	0.0899	L	0.27053	0.805	0.33521	D	0.59235	D	0.69078	0.997	D	0.78314	0.991	T	0.48258	-0.9051	9	0.62326	D	0.03	.	8.618	0.33845	0.0:0.7759:0.0:0.2241	.	1901	Q9C0F0	ASXL3_HUMAN	I	1901	ENSP00000269197:L1901I	ENSP00000269197:L1901I	L	+	1	0	ASXL3	29579511	0.998000	0.40836	1.000000	0.80357	0.678000	0.39670	1.746000	0.38288	1.323000	0.45263	0.655000	0.94253	CTC		0.493	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			17	239	1	0	9.16793e-09	0.00499	1.06787e-08	17	239				
ELP2	55250	broad.mit.edu	37	18	33736468	33736468	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:33736468T>C	ENST00000358232.6	+	13	1378	c.1315T>C	c.(1315-1317)Tat>Cat	p.Y439H	ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Missense_Mutation_p.Y369H|ELP2_ENST00000351393.6_Missense_Mutation_p.Y413H|ELP2_ENST00000442325.2_Missense_Mutation_p.Y504H|ELP2_ENST00000350494.6_Missense_Mutation_p.Y434H|ELP2_ENST00000423854.2_Missense_Mutation_p.Y369H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	439					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GATACATGGGTATGACCTGAA	0.378																																							uc002kzk.1		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1315-1317)TAT>CAT		elongator protein 2							129.0	128.0	128.0					18																	33736468		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33736468T>C	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1315T>C	18.37:g.33736468T>C	ENSP00000350967:p.Tyr439His					ELP2_uc010xcg.1_Missense_Mutation_p.Y504H|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.Y413H|ELP2_uc010xch.1_Missense_Mutation_p.Y434H|ELP2_uc002kzn.1_Missense_Mutation_p.Y369H|ELP2_uc002kzo.1_Missense_Mutation_p.Y369H	p.Y439H	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			13	1325	+			439			WD 9.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.1315T>C	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994408	0.54041	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;D;T;T	0.91011	-0.04;0.12;1.02;-2.77;0.27;0.18	5.57	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112657	0.64402	D	0.000007	D	0.92763	0.7699	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.997;0.998;1.0;0.998;0.997	D;D;D;D;D;D	0.75484	0.977;0.977;0.959;0.986;0.953;0.969	D	0.90997	0.4839	10	0.32370	T	0.25	-21.6033	10.0625	0.42284	0.0:0.0824:0.0:0.9176	.	434;504;369;369;413;439	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	H	439;413;504;369;434;369	ENSP00000350967:Y439H;ENSP00000257191:Y413H;ENSP00000414851:Y504H;ENSP00000391202:Y369H;ENSP00000316051:Y434H;ENSP00000443800:Y369H	ENSP00000316051:Y434H	Y	+	1	0	ELP2	31990466	1.000000	0.71417	0.945000	0.38365	0.956000	0.61745	6.208000	0.72165	2.123000	0.65237	0.477000	0.44152	TAT		0.378	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		321	68	0	0	0	0.00361	0	321	68				
HAUS1	115106	broad.mit.edu	37	18	43698246	43698246	+	Missense_Mutation	SNP	C	C	T	rs145196614	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:43698246C>T	ENST00000282058.6	+	3	385	c.305C>T	c.(304-306)gCg>gTg	p.A102V	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	102					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.A102V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTTGACAGTGCGGTGGCCCTT	0.428													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17109	0.0		0.0	False		,,,				2504	0.0				NSCLC(79;183 1423 5813 15597 38427)	NSCLC(79;183 1423 5813 15597 38427)	uc002lbu.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(304-306)GCG>GTG		coiled-coil domain containing 5		C	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	119.0	115.0	116.0		305	5.3	0.9	18	dbSNP_134	116	0,8600		0,0,4300	yes	missense	HAUS1	NM_138443.3	64	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	102/279	43698246	5,13001	2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698246C>T	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.305C>T	18.37:g.43698246C>T	ENSP00000282058:p.Ala102Val					HAUS1_uc002lbv.2_Missense_Mutation_p.A26V	p.A102V	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN			3	385	+			102					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.305C>T	CCDS11928.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	17.41	3.383260	0.61845	0.001135	0.0	ENSG00000152240	ENST00000282058	.	.	.	5.29	5.29	0.74685	.	0.163602	0.53938	D	0.000051	T	0.48642	0.1511	L	0.48362	1.52	0.45403	D	0.99838	B	0.31640	0.333	B	0.29440	0.102	T	0.56697	-0.7936	9	0.54805	T	0.06	-7.8539	16.2131	0.82185	0.0:1.0:0.0:0.0	.	102	Q96CS2	HAUS1_HUMAN	V	102	.	ENSP00000282058:A102V	A	+	2	0	HAUS1	41952244	0.997000	0.39634	0.940000	0.37924	0.900000	0.52787	4.729000	0.62008	2.623000	0.88846	0.650000	0.86243	GCG		0.428	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		5	72	0	0	0	0.000602	0	5	72				
SMAD2	4087	broad.mit.edu	37	18	45372173	45372173	+	Splice_Site	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:45372173T>A	ENST00000402690.2	-	9	1392		c.e9-2		SMAD2_ENST00000591214.1_Splice_Site|SMAD2_ENST00000586040.1_Splice_Site|SMAD2_ENST00000356825.4_Splice_Site|SMAD2_ENST00000262160.6_Splice_Site	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2						activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTCCTCTTCCTGAAACAAAAT	0.348																																							uc002lcy.2		NA																	0				large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.e9-1		Sma- and Mad-related protein 2 isoform 1							75.0	72.0	73.0					18																	45372173		2203	4300	6503	SO:0001630	splice_region_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45372173T>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.998-2A>T	18.37:g.45372173T>A						SMAD2_uc002lcz.2_Splice_Site_p.G333_splice|SMAD2_uc010xdc.1_Splice_Site_p.G303_splice|SMAD2_uc010xdd.1_Splice_Site_p.G303_splice	p.G333_splice	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			9	1246	-									Splice_Site	SNP	ENST00000402690.2	37	c.998_splice	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203387	0.79127	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMAD2	43626171	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.895000	0.87343	2.320000	0.78422	0.528000	0.53228	.		0.348	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	Intron	15	43	0	0	0	0.004007	0	15	43				
ATP8B1	5205	broad.mit.edu	37	18	55342077	55342077	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:55342077A>G	ENST00000283684.4	-	15	1807	c.1808T>C	c.(1807-1809)aTg>aCg	p.M603T	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.M603T|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	603					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AATGATAGACATTCGCTTCCG	0.473																																							uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1807-1809)ATG>ACG		ATPase, class I, type 8B, member 1							155.0	134.0	141.0					18																	55342077		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55342077A>G	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1808T>C	18.37:g.55342077A>G	ENSP00000283684:p.Met603Thr					uc002lgv.1_Intron	p.M603T	NM_005603	NP_005594	O43520	AT8B1_HUMAN			15	1808	-		Colorectal(73;0.229)	603			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1808T>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936124	0.73442	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.74737	-0.87;-0.87	5.63	5.63	0.86233	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	H	0.99238	4.48	0.80722	D	1	D	0.65815	0.995	D	0.77004	0.989	D	0.95328	0.8427	10	0.87932	D	0	.	15.5314	0.75964	1.0:0.0:0.0:0.0	.	603	O43520	AT8B1_HUMAN	T	603	ENSP00000283684:M603T;ENSP00000445359:M603T	ENSP00000283684:M603T	M	-	2	0	ATP8B1	53493075	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	9.339000	0.96797	2.145000	0.66743	0.533000	0.62120	ATG		0.473	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		4	52	0	0	0	0.009096	0	4	52				
SERPINB10	5273	broad.mit.edu	37	18	61602088	61602088	+	Missense_Mutation	SNP	C	C	A	rs201748994		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:61602088C>A	ENST00000238508.3	+	8	865	c.806C>A	c.(805-807)aCc>aAc	p.T269N	AC009802.1_ENST00000599868.1_Missense_Mutation_p.G16V	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	269					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAGGCCATCACCTATGAGAAG	0.438																																							uc010xev.1		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(805-807)ACC>AAC		serine (or cysteine) proteinase inhibitor, clade							103.0	101.0	102.0					18																	61602088		2203	4300	6503	SO:0001583	missense	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61602088C>A	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.806C>A	18.37:g.61602088C>A	ENSP00000238508:p.Thr269Asn					SERPINB10_uc010xew.1_Missense_Mutation_p.T269N	p.T269N	NM_005024	NP_005015	P48595	SPB10_HUMAN			8	896	+		Esophageal squamous(42;0.131)	269					Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.806C>A	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078038	0.36662	.	.	ENSG00000242550	ENST00000238508	D	0.83419	-1.72	5.38	4.5	0.54988	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	L	0.53780	1.695	0.50467	D	0.999877	P	0.47604	0.898	P	0.49192	0.602	D	0.85142	0.0981	10	0.52906	T	0.07	.	15.4783	0.75504	0.0:0.8609:0.1391:0.0	.	269	P48595	SPB10_HUMAN	N	269	ENSP00000238508:T269N	ENSP00000238508:T269N	T	+	2	0	SERPINB10	59753068	0.998000	0.40836	0.091000	0.20842	0.164000	0.22412	3.958000	0.56737	1.397000	0.46682	-0.175000	0.13238	ACC		0.438	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		16	44	1	0	1.33834e-09	0.007413	1.5826e-09	16	44				
DOK6	220164	broad.mit.edu	37	18	67344982	67344982	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:67344982A>G	ENST00000382713.5	+	4	492	c.302A>G	c.(301-303)gAg>gGg	p.E101G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	101	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGGAGGCCGAGGAGTGGTGC	0.532																																							uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(301-303)GAG>GGG		docking protein 6							122.0	115.0	117.0					18																	67344982		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67344982A>G	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.302A>G	18.37:g.67344982A>G	ENSP00000372160:p.Glu101Gly						p.E101G	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			4	492	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	101			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.302A>G	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682248	0.47991	.	.	ENSG00000206052	ENST00000382713	T	0.77098	-1.07	5.34	5.34	0.76211	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	L	0.39898	1.24	0.58432	D	0.999999	B	0.14805	0.011	B	0.20384	0.029	T	0.66925	-0.5800	10	0.44086	T	0.13	-11.2374	13.5865	0.61933	1.0:0.0:0.0:0.0	.	101	Q6PKX4	DOK6_HUMAN	G	101	ENSP00000372160:E101G	ENSP00000372160:E101G	E	+	2	0	DOK6	65495962	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.730000	0.91510	2.367000	0.80283	0.528000	0.53228	GAG		0.532	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		5	61	0	0	0	0.001168	0	5	61				
POLRMT	5442	broad.mit.edu	37	19	619702	619702	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:619702A>C	ENST00000588649.2	-	13	3034	c.2950T>G	c.(2950-2952)Ttc>Gtc	p.F984V	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	984	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGTGATGAAACCTTCCAGC	0.692																																							uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2950-2952)TTC>GTC		mitochondrial DNA-directed RNA polymerase							97.0	100.0	99.0					19																	619702		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619702A>C		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2950T>G	19.37:g.619702A>C	ENSP00000465759:p.Phe984Val						p.F984V	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3006	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	984			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.2950T>G	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.838571	0.51057	.	.	ENSG00000099821	ENST00000215591	T	0.41400	1.0	4.57	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.53394	-0.8445	10	0.31617	T	0.26	-42.3724	8.7369	0.34534	0.9091:0.0:0.0909:0.0	.	984	O00411	RPOM_HUMAN	V	984	ENSP00000215591:F984V	ENSP00000215591:F984V	F	-	1	0	POLRMT	570702	1.000000	0.71417	0.848000	0.33437	0.010000	0.07245	6.986000	0.76200	1.698000	0.51180	0.368000	0.22195	TTC		0.692	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		14	180	0	0	0	0.004007	0	14	180				
ABCA7	10347	broad.mit.edu	37	19	1047358	1047358	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:1047358C>T	ENST00000263094.6	+	15	2279	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	ABCA7_ENST00000433129.1_Missense_Mutation_p.A683V|ABCA7_ENST00000435683.2_Missense_Mutation_p.A545V|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	683					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGCCCGCGGGTGGCCGC	0.741																																							uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2047-2049)GCG>GTG		ATP-binding cassette, sub-family A, member 7							8.0	8.0	8.0					19																	1047358		2143	4203	6346	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1047358C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2048C>T	19.37:g.1047358C>T	ENSP00000263094:p.Ala683Val					ABCA7_uc010dsb.1_Missense_Mutation_p.A545V	p.A683V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2279	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	683					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.2048C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	c	3.021	-0.201818	0.06219	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86865	-2.18;-2.18	4.88	-0.358	0.12575	.	.	.	.	.	T	0.72407	0.3456	N	0.13272	0.32	0.09310	N	1	B;B	0.18166	0.005;0.026	B;B	0.15870	0.005;0.014	T	0.54609	-0.8268	9	0.17369	T	0.5	.	8.1275	0.31008	0.0:0.5792:0.0:0.4208	.	545;683	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	V	683	ENSP00000263094:A683V;ENSP00000414062:A683V	ENSP00000263094:A683V	A	+	2	0	ABCA7	998358	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.994000	0.03716	-0.246000	0.09611	0.556000	0.70494	GCG		0.741	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		6	12	0	0	0	0.001168	0	6	12				
BTBD2	55643	broad.mit.edu	37	19	1987200	1987200	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:1987200T>G	ENST00000255608.4	-	7	1250	c.1234A>C	c.(1234-1236)Atc>Ctc	p.I412L	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	412						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTGGATGGATCCATAC	0.597																																							uc002lup.1		NA																	0				ovary(1)|skin(1)	2						c.(1234-1236)ATC>CTC		BTB (POZ) domain containing 2							226.0	191.0	203.0					19																	1987200		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987200T>G	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1234A>C	19.37:g.1987200T>G	ENSP00000255608:p.Ile412Leu					BTBD2_uc002luo.1_Missense_Mutation_p.I91L	p.I412L	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1234	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	412					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1234A>C	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	t	13.20	2.167230	0.38315	.	.	ENSG00000133243	ENST00000255608	T	0.73469	-0.75	4.56	4.56	0.56223	PHR (1);	0.089756	0.64402	N	0.000003	T	0.67002	0.2847	L	0.46741	1.465	0.80722	D	1	B	0.11235	0.004	B	0.21151	0.033	T	0.62091	-0.6927	10	0.22706	T	0.39	-34.4834	13.2256	0.59912	0.0:0.0:0.0:1.0	.	412	Q9BX70	BTBD2_HUMAN	L	412	ENSP00000255608:I412L	ENSP00000255608:I412L	I	-	1	0	BTBD2	1938200	1.000000	0.71417	0.631000	0.29282	0.712000	0.41017	7.647000	0.83462	1.906000	0.55180	0.454000	0.30748	ATC		0.597	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			4	33	0	0	0	0.009096	0	4	33				
AP3D1	8943	broad.mit.edu	37	19	2132509	2132509	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:2132509T>G	ENST00000345016.5	-	5	654	c.423A>C	c.(421-423)ccA>ccC	p.P141P	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Silent_p.P141P|AP3D1_ENST00000356926.4_Silent_p.P141P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	141					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAAGGTCTGGGGTGACGA	0.572																																							uc002luz.2		NA																	0					0						c.(421-423)CCA>CCC		adaptor-related protein complex 3, delta 1							139.0	150.0	146.0					19																	2132509		2072	4204	6276	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2132509T>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.423A>C	19.37:g.2132509T>G						AP3D1_uc002luy.2_Silent_p.P141P|AP3D1_uc002lva.2_Silent_p.P141P	p.P141P	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	646	-		Hepatocellular(1079;0.137)	141					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.423A>C	CCDS42459.1																																																																																				0.572	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			29	114	0	0	0	0.002096	0	29	114				
DIRAS1	148252	broad.mit.edu	37	19	2717219	2717219	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:2717219T>C	ENST00000323469.4	-	2	769	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	DIRAS1_ENST00000585334.1_Missense_Mutation_p.T196A	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	196					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATGAGGGTGCATTTGCCC	0.682																																							uc002lwf.3		NA																	0				ovary(1)	1						c.(586-588)ACC>GCC		DIRAS family, GTP-binding RAS-like 1							89.0	85.0	86.0					19																	2717219		2203	4297	6500	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717219T>C	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.586A>G	19.37:g.2717219T>C	ENSP00000325836:p.Thr196Ala						p.T196A	NM_145173	NP_660156	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	744	-			196						Missense_Mutation	SNP	ENST00000323469.4	37	c.586A>G	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776622	0.31411	.	.	ENSG00000176490	ENST00000323469	T	0.69040	-0.37	3.44	-4.33	0.03677	.	0.416084	0.26757	N	0.022653	T	0.41259	0.1151	N	0.12502	0.225	0.22873	N	0.998625	B	0.02656	0.0	B	0.01281	0.0	T	0.14476	-1.0471	10	0.44086	T	0.13	.	10.8817	0.46942	0.0:0.2085:0.0:0.7915	.	196	O95057	DIRA1_HUMAN	A	196	ENSP00000325836:T196A	ENSP00000325836:T196A	T	-	1	0	DIRAS1	2668219	0.088000	0.21588	0.396000	0.26296	0.995000	0.86356	-0.316000	0.08071	-0.944000	0.03686	0.448000	0.29417	ACC		0.682	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			8	104	0	0	0	0.004482	0	8	104				
MLLT1	4298	broad.mit.edu	37	19	6222511	6222511	+	Missense_Mutation	SNP	G	G	A	rs185592757	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:6222511G>A	ENST00000252674.7	-	6	894	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	244					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GGGCGGTGGCGCCTTCTCCTC	0.657			T	MLL	AL								G|||	2	0.000399361	0.0	0.0	5008	,	,		10606	0.002		0.0	False		,,,				2504	0.0						uc002mek.2		NA		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(730-732)GCG>GTG		myeloid/lymphoid or mixed-lineage leukemia							31.0	30.0	31.0					19																	6222511		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222511G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.731C>T	19.37:g.6222511G>A	ENSP00000252674:p.Ala244Val						p.A244V	NM_005934	NP_005925	Q03111	ENL_HUMAN			6	895	-			244					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.731C>T	CCDS12160.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.303	-0.604312	0.03717	.	.	ENSG00000130382	ENST00000252674	.	.	.	2.92	1.88	0.25563	.	0.183864	0.47093	N	0.000256	T	0.16214	0.0390	N	0.16233	0.39	0.43238	D	0.995143	P	0.44429	0.835	B	0.26770	0.073	T	0.04870	-1.0921	9	0.30078	T	0.28	-27.3917	5.9484	0.19232	0.1458:0.0:0.8542:0.0	.	244	Q03111	ENL_HUMAN	V	244	.	ENSP00000252674:A244V	A	-	2	0	MLLT1	6173511	0.996000	0.38824	0.794000	0.32065	0.545000	0.35147	2.502000	0.45398	0.818000	0.34468	-0.350000	0.07774	GCG		0.657	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		10	15	0	0	0	0.006214	0	10	15				
C3	718	broad.mit.edu	37	19	6718320	6718320	+	Missense_Mutation	SNP	C	C	G	rs201985442	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:6718320C>G	ENST00000245907.6	-	3	463	c.371G>C	c.(370-372)aGc>aCc	p.S124T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	124					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCTCTGCAGGCTGACCAGCAC	0.632																																							uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(370-372)AGC>ACC		complement component 3 precursor							100.0	83.0	89.0					19																	6718320		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718320C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.371G>C	19.37:g.6718320C>G	ENSP00000245907:p.Ser124Thr						p.S124T	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	433	-			124					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.371G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017492	0.35606	.	.	ENSG00000125730	ENST00000245907	T	0.35605	1.3	4.91	3.84	0.44239	.	0.170802	0.50627	D	0.000119	T	0.27832	0.0685	L	0.42245	1.32	0.33192	D	0.550935	B	0.31859	0.343	B	0.34138	0.176	T	0.32981	-0.9886	10	0.33940	T	0.23	.	6.5103	0.22218	0.0:0.5935:0.2963:0.1102	.	124	P01024	CO3_HUMAN	T	124	ENSP00000245907:S124T	ENSP00000245907:S124T	S	-	2	0	C3	6669320	0.720000	0.27996	0.990000	0.47175	0.341000	0.28922	4.012000	0.57131	2.295000	0.77249	0.454000	0.30748	AGC		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	50	0	0	0	0.001168	0	5	50				
OR2Z1	284383	broad.mit.edu	37	19	8842180	8842180	+	Missense_Mutation	SNP	G	G	A	rs373819151		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:8842180G>A	ENST00000324060.2	+	1	865	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A264T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGCCTTGCGCCTACCACAG	0.552																																							uc010xkg.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(790-792)GCC>ACC		olfactory receptor, family 2, subfamily Z,		G	THR/ALA	0,4406		0,0,2203	179.0	145.0	156.0		790	-1.1	0.2	19		156	1,8599	2.2+/-6.3	0,1,4299	no	missense	OR2Z1	NM_001004699.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	264/315	8842180	1,13005	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842180G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.790G>A	19.37:g.8842180G>A	ENSP00000316284:p.Ala264Thr						p.A264T	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	790	+			264			Extracellular (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.790G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663709	0.14710	0.0	1.16E-4	ENSG00000181733	ENST00000324060	T	0.00099	8.73	4.67	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	1.416960	0.04216	N	0.332618	T	0.00073	0.0002	N	0.04636	-0.2	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.14868	-1.0457	10	0.62326	D	0.03	.	4.5004	0.11862	0.1929:0.0:0.3208:0.4862	.	264	Q8NG97	OR2Z1_HUMAN	T	264	ENSP00000316284:A264T	ENSP00000316284:A264T	A	+	1	0	OR2Z1	8703180	0.000000	0.05858	0.216000	0.23742	0.112000	0.19704	0.270000	0.18607	0.136000	0.18733	-0.320000	0.08662	GCC		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			12	107	0	0	0	0.001368	0	12	107				
MUC16	94025	broad.mit.edu	37	19	9028257	9028257	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9028257A>T	ENST00000397910.4	-	11	36738	c.36535T>A	c.(36535-36537)Tac>Aac	p.Y12179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12181	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TCCAGGGTGTAGGGGCCCAGC	0.567																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36535-36537)TAC>AAC		mucin 16							228.0	223.0	225.0					19																	9028257		2049	4194	6243	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9028257A>T	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.36535T>A	19.37:g.9028257A>T	ENSP00000381008:p.Tyr12179Asn						p.Y12179N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			11	36739	-			12181			SEA 1.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36535T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	A	8.357	0.832277	0.16820	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	2.66	2.66	0.31614	.	.	.	.	.	T	0.46833	0.1413	M	0.77616	2.38	.	.	.	D	0.76494	0.999	D	0.79108	0.992	T	0.59343	-0.7472	8	0.87932	D	0	.	7.1901	0.25821	1.0:0.0:0.0:0.0	.	12179	B5ME49	.	N	12179	ENSP00000381008:Y12179N	ENSP00000381008:Y12179N	Y	-	1	0	MUC16	8889257	1.000000	0.71417	0.128000	0.21923	0.158000	0.22134	5.200000	0.65158	1.451000	0.47736	0.383000	0.25322	TAC		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	325	0	0	0	0.002522	0	39	325				
MUC16	94025	broad.mit.edu	37	19	9062971	9062971	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9062971T>C	ENST00000397910.4	-	3	24678	c.24475A>G	c.(24475-24477)Acc>Gcc	p.T8159A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8161	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						CTAGAGGAGGTGACTTCTGTC	0.542																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24475-24477)ACC>GCC		mucin 16							125.0	122.0	123.0					19																	9062971		2052	4217	6269	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062971T>C	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.24475A>G	19.37:g.9062971T>C	ENSP00000381008:p.Thr8159Ala						p.T8159A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24679	-			8161			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24475A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.205	0.223303	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.24	1.04	0.20106	.	.	.	.	.	T	0.01695	0.0054	N	0.19112	0.55	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	8	0.87932	D	0	.	3.5432	0.07819	0.0:0.127:0.2292:0.6438	.	8159	B5ME49	.	A	8159	ENSP00000381008:T8159A	ENSP00000381008:T8159A	T	-	1	0	MUC16	8923971	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.420000	0.07062	0.139000	0.18822	-0.476000	0.04901	ACC		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	77	0	0	0	0.00499	0	17	77				
MUC16	94025	broad.mit.edu	37	19	9077354	9077354	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9077354T>C	ENST00000397910.4	-	3	10295	c.10092A>G	c.(10090-10092)acA>acG	p.T3364T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3365	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						TATTGGAAGATGTGCTCAGAG	0.473																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10090-10092)ACA>ACG		mucin 16							233.0	214.0	220.0					19																	9077354		1936	4157	6093	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077354T>C	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.10092A>G	19.37:g.9077354T>C							p.T3364T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10296	-			3365			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.10092A>G	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	233	0	0	0	0.002096	0	30	233				
MUC16	94025	broad.mit.edu	37	19	9085517	9085517	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9085517C>A	ENST00000397910.4	-	1	6501	c.6298G>T	c.(6298-6300)Gct>Tct	p.A2100S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2100	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						TGCTTAGCAGCAGATGTGGAT	0.473																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6298-6300)GCT>TCT		mucin 16							169.0	162.0	164.0					19																	9085517		1910	4119	6029	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085517C>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.6298G>T	19.37:g.9085517C>A	ENSP00000381008:p.Ala2100Ser						p.A2100S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6502	-			2100			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6298G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.710	-0.787521	0.02884	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.18166	0.026	B	0.12837	0.008	T	0.44159	-0.9346	7	0.87932	D	0	.	.	.	.	.	2100	B5ME49	.	S	2100	ENSP00000381008:A2100S	ENSP00000381008:A2100S	A	-	1	0	MUC16	8946517	0.000000	0.05858	0.061000	0.19648	0.062000	0.15995	-2.007000	0.01457	-0.677000	0.05231	-0.671000	0.03813	GCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	198	1	0	8.88839e-20	0.002096	1.14109e-19	29	198				
MUC16	94025	broad.mit.edu	37	19	9087193	9087193	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9087193G>T	ENST00000397910.4	-	1	4825	c.4622C>A	c.(4621-4623)aCa>aAa	p.T1541K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1541	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						CCACGTGGTTGTCAGTGGGGT	0.473																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4621-4623)ACA>AAA		mucin 16							354.0	331.0	339.0					19																	9087193		2056	4209	6265	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087193G>T	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.4622C>A	19.37:g.9087193G>T	ENSP00000381008:p.Thr1541Lys						p.T1541K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4826	-			1541			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4622C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.307	-0.358780	0.05138	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	.	.	.	B	0.18166	0.026	B	0.12837	0.008	T	0.34850	-0.9812	7	0.87932	D	0	.	.	.	.	.	1541	B5ME49	.	K	1541	ENSP00000381008:T1541K	ENSP00000381008:T1541K	T	-	2	0	MUC16	8948193	0.000000	0.05858	0.126000	0.21872	0.129000	0.20672	-0.886000	0.04157	0.308000	0.22923	0.313000	0.20887	ACA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	181	1	0	6.12954e-19	0.004656	7.82869e-19	25	181				
OR7E24	26648	broad.mit.edu	37	19	9362502	9362502	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9362502T>C	ENST00000456448.1	+	1	897	c.783T>C	c.(781-783)tcT>tcC	p.S261S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CCTGTGGCTCTCACCTGGCAG	0.458																																							uc002mlb.1		NA																	0				skin(1)	1						c.(781-783)TCT>TCC		olfactory receptor, family 7, subfamily E,							40.0	43.0	42.0					19																	9362502		2105	4253	6358	SO:0001819	synonymous_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362502T>C	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.783T>C	19.37:g.9362502T>C							p.S261S	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	783	+			261			Helical; Name=6; (Potential).		B9EJD9|Q9UPJ1	Silent	SNP	ENST00000456448.1	37	c.783T>C	CCDS45955.1																																																																																				0.458	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			10	24	0	0	0	0.008291	0	10	24				
ZNF699	374879	broad.mit.edu	37	19	9406610	9406610	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9406610G>A	ENST00000591998.1	-	6	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ZNF699_ENST00000308650.3_Silent_p.L490L|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTTCGGTGAGGGATGAGG	0.448																																							uc002mlc.1		NA																	0					0						c.(1468-1470)CTC>CTT		zinc finger protein 699							80.0	85.0	83.0					19																	9406610		2201	4298	6499	SO:0001819	synonymous_variant	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406610G>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1470C>T	19.37:g.9406610G>A							p.L490L	NM_198535	NP_940937	Q32M78	ZN699_HUMAN			5	1470	-			490			C2H2-type 11.		Q8N9A1	Silent	SNP	ENST00000591998.1	37	c.1470C>T	CCDS42495.1																																																																																				0.448	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		9	55	0	0	0	0.006214	0	9	55				
ZNF426	79088	broad.mit.edu	37	19	9646885	9646885	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9646885A>G	ENST00000535489.1	-	1	360	c.24T>C	c.(22-24)caT>caC	p.H8H	ZNF426_ENST00000253115.2_Splice_Site_p.H8H|ZNF426_ENST00000593003.1_Splice_Site_p.M1T|ZNF426_ENST00000589289.1_Splice_Site_p.H8H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGAGCTTACCATGGGACAAAT	0.453																																							uc002mlq.2		NA																	0				ovary(1)	1						c.(22-24)CAT>CAC		zinc finger protein 426							151.0	120.0	130.0					19																	9646885		2203	4300	6503	SO:0001630	splice_region_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9646885A>G	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.25+1T>C	19.37:g.9646885A>G						ZNF426_uc010dws.2_Missense_Mutation_p.M1T|uc002mlr.2_5'Flank|uc002mls.2_5'Flank	p.H8H	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			3	288	-			8					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.24T>C	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	A	3.895	-0.023157	0.07634	.	.	ENSG00000130818	ENST00000545189	.	.	.	1.14	0.0659	0.14359	.	.	.	.	.	T	0.26048	0.0635	.	.	.	0.20703	N	0.999867	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	7	0.56958	D	0.05	.	3.0041	0.06023	0.7088:0.0:0.2912:0.0	.	26	Q59EH4	.	T	26	.	ENSP00000442711:M26T	M	-	2	0	ZNF426	9507885	0.000000	0.05858	0.019000	0.16419	0.127000	0.20565	-0.199000	0.09491	-0.030000	0.13804	0.260000	0.18958	ATG		0.453	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	Silent	10	41	0	0	0	0.004007	0	10	41				
P2RY11	5032	broad.mit.edu	37	19	10225288	10225288	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:10225288A>G	ENST00000321826.4	+	2	1183	c.999A>G	c.(997-999)cgA>cgG	p.R333R	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Silent_p.R753R|PPAN-P2RY11_ENST00000393796.4_Silent_p.R753R	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	333					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GCTGCTGCCGACACTGCCCCG	0.662																																							uc002mna.2		NA																	0				ovary(2)	2						c.(2257-2259)CGA>CGG		PPAN-P2RY11 protein							44.0	50.0	48.0					19																	10225288		2203	4299	6502	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10225288A>G	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.999A>G	19.37:g.10225288A>G						PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Silent_p.R333R	p.R753R	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2259	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.2259A>G	CCDS12226.1																																																																																				0.662	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		14	38	0	0	0	0.00245	0	14	38				
CDC37	11140	broad.mit.edu	37	19	10506666	10506666	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:10506666G>A	ENST00000222005.2	-	2	369	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	106					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TCCTTCTTGCGCATCTCCTCC	0.682																																							uc002mof.1		NA																	0					0						c.(316-318)CGC>TGC		cell division cycle 37 protein							150.0	138.0	142.0					19																	10506666		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506666G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.316C>T	19.37:g.10506666G>A	ENSP00000222005:p.Arg106Cys					CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R106C|CDC37_uc002moh.2_Missense_Mutation_p.R106C	p.R106C	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	432	-			106					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.316C>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411499	0.62399	.	.	ENSG00000105401	ENST00000222005	T	0.47177	0.85	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.437327	0.23008	N	0.052987	T	0.50701	0.1631	M	0.72894	2.215	0.53005	D	0.999964	D;D	0.59767	0.986;0.986	P;P	0.47206	0.541;0.541	T	0.56438	-0.7979	10	0.56958	D	0.05	.	9.7854	0.40673	0.0:0.0:0.7942:0.2058	.	106;106	Q6FG59;Q16543	.;CDC37_HUMAN	C	106	ENSP00000222005:R106C	ENSP00000222005:R106C	R	-	1	0	CDC37	10367666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.566000	0.36396	2.058000	0.61347	0.555000	0.69702	CGC		0.682	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		36	130	0	0	0	0.004878	0	36	130				
PLPPR2	64748	broad.mit.edu	37	19	11473281	11473281	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:11473281C>T	ENST00000251473.5	+	7	1132	c.756C>T	c.(754-756)ggC>ggT	p.G252G	DKFZP761J1410_ENST00000591608.1_Silent_p.G227G	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCCTGGTGGGCGTGGTCCGCG	0.657																																						Esophageal Squamous(164;1817 2610 12941 25548)	uc002mre.1		NA																	0				large_intestine(1)	1						c.(754-756)GGC>GGT		lipid phosphate phosphatase-related protein type							90.0	73.0	79.0					19																	11473281		2203	4300	6503	SO:0001819	synonymous_variant	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11473281C>T																												ENST00000251473.5:c.756C>T	19.37:g.11473281C>T						LPPR2_uc002mrf.1_Silent_p.G227G|LPPR2_uc010dxy.1_Silent_p.G59G	p.G252G	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			7	1093	+			252			Helical; (Potential).			Silent	SNP	ENST00000251473.5	37	c.756C>T	CCDS12258.1																																																																																				0.657	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			11	38	0	0	0	0.000978	0	11	38				
ZNF625	90589	broad.mit.edu	37	19	12256520	12256520	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:12256520A>G	ENST00000355738.1	-	4	862	c.513T>C	c.(511-513)caT>caC	p.H171H	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Silent_p.H171H|ZNF625_ENST00000439556.2_Silent_p.H237H|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GAGTTCTTTCATGTATTCGAA	0.413																																							uc002mth.2		NA																	0					0						c.(511-513)CAT>CAC		zinc finger protein 625							137.0	124.0	128.0					19																	12256520		2203	4300	6503	SO:0001819	synonymous_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256520A>G	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.513T>C	19.37:g.12256520A>G						ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.H205H	p.H171H	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	863	-			171			C2H2-type 5.		A4FU45|I3L0E9	Silent	SNP	ENST00000355738.1	37	c.513T>C																																																																																					0.413	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		21	81	0	0	0	0.001882	0	21	81				
ZNF625	90589	broad.mit.edu	37	19	12256740	12256740	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:12256740T>A	ENST00000355738.1	-	4	642	c.293A>T	c.(292-294)gAt>gTt	p.D98V	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.D98V|ZNF625_ENST00000439556.2_Missense_Mutation_p.D164V|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCCTCACAATCATAAGGTTT	0.433																																							uc002mth.2		NA																	0					0						c.(292-294)GAT>GTT		zinc finger protein 625							137.0	125.0	129.0					19																	12256740		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256740T>A	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.293A>T	19.37:g.12256740T>A	ENSP00000347977:p.Asp98Val					ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.D132V	p.D98V	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	643	-			98			C2H2-type 3.		A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.293A>T		.	.	.	.	.	.	.	.	.	.	T	15.13	2.742006	0.49151	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.32988	1.43;1.43;1.43	0.856	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.02315	-0.6	0.34085	D	0.659991	B;B	0.13145	0.007;0.004	B;B	0.22152	0.003;0.038	T	0.11131	-1.0600	9	0.59425	D	0.04	.	3.6787	0.08302	1.0E-4:0.0:0.4104:0.5895	.	98;98	A8K8U0;Q96I27	.;ZN625_HUMAN	V	98;98;164	ENSP00000438436:D98V;ENSP00000347977:D98V;ENSP00000394380:D164V	ENSP00000347977:D98V	D	-	2	0	AC022415.5	12117740	0.000000	0.05858	0.227000	0.23927	0.884000	0.51177	-0.394000	0.07296	0.639000	0.30564	0.260000	0.18958	GAT		0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		25	85	0	0	0	0.00632	0	25	85				
EPHX3	79852	broad.mit.edu	37	19	15341864	15341864	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15341864A>G	ENST00000221730.3	-	4	745	c.525T>C	c.(523-525)ggT>ggC	p.G175G	EPHX3_ENST00000602233.1_Silent_p.G175G|EPHX3_ENST00000435261.1_Silent_p.G175G	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	175						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAAGGAGGGCACCCCAGTCAT	0.577																																							uc002nap.2		NA																	0					0						c.(523-525)GGT>GGC		abhydrolase domain containing 9 precursor							115.0	91.0	99.0					19																	15341864		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15341864A>G	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.525T>C	19.37:g.15341864A>G						EPHX3_uc002naq.2_Silent_p.G175G	p.G175G	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			4	734	-			175					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.525T>C	CCDS12327.1																																																																																				0.577	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		6	38	0	0	0	0.001168	0	6	38				
AKAP8L	26993	broad.mit.edu	37	19	15514383	15514383	+	Missense_Mutation	SNP	C	C	A	rs202099656		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15514383C>A	ENST00000397410.5	-	4	395	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	89						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAAACGGAATCGGCACTGGCG	0.512																																							uc002naw.1		NA																	0				ovary(1)	1						c.(265-267)GAT>TAT		A kinase (PRKA) anchor protein 8-like							120.0	122.0	122.0					19																	15514383		2053	4196	6249	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514383C>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.265G>T	19.37:g.15514383C>A	ENSP00000380557:p.Asp89Tyr					AKAP8L_uc002nax.1_Intron|AKAP8L_uc010xoh.1_Intron|AKAP8L_uc002nay.1_Missense_Mutation_p.D89Y|AKAP8L_uc002naz.2_5'Flank	p.D89Y	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			4	364	-			89					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.265G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554002	0.86231	.	.	ENSG00000011243	ENST00000397410	T	0.62498	0.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	L	0.39898	1.24	0.48830	D	0.999719	D;D	0.89917	1.0;1.0	D;D	0.91635	0.951;0.999	T	0.75150	-0.3419	10	0.87932	D	0	-19.2387	15.9365	0.79712	0.0:1.0:0.0:0.0	.	89;89	B3KMD4;Q9ULX6	.;AKP8L_HUMAN	Y	89	ENSP00000380557:D89Y	ENSP00000380557:D89Y	D	-	1	0	AKAP8L	15375383	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.990000	0.70595	2.492000	0.84095	0.561000	0.74099	GAT		0.512	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		7	72	1	0	8.12818e-05	0.001984	8.69429e-05	7	72				
CYP4F22	126410	broad.mit.edu	37	19	15636257	15636257	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15636257G>A	ENST00000269703.3	+	3	309	c.110G>A	c.(109-111)cGc>cAc	p.R37H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R37H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	37						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						TTCCTGTTCCGCCTGCTGCTG	0.652																																							uc002nbh.3		NA																	0				ovary(1)|pancreas(1)	2						c.(109-111)CGC>CAC		cytochrome P450, family 4, subfamily F,							124.0	92.0	103.0					19																	15636257		2203	4300	6503	SO:0001583	missense	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.chr19:15636257G>A		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.110G>A	19.37:g.15636257G>A	ENSP00000269703:p.Arg37His						p.R37H	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			3	277	+			37					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.110G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794569	0.70452	.	.	ENSG00000171954	ENST00000269703	D	0.90955	-2.76	4.84	4.84	0.62591	.	0.209202	0.41097	D	0.000946	T	0.79598	0.4473	N	0.08118	0	0.36108	D	0.844571	B	0.11235	0.004	B	0.06405	0.002	T	0.76841	-0.2810	10	0.15499	T	0.54	.	13.8307	0.63380	0.0:0.0:1.0:0.0	.	37	Q6NT55	CP4FN_HUMAN	H	37	ENSP00000269703:R37H	ENSP00000269703:R37H	R	+	2	0	CYP4F22	15497257	0.998000	0.40836	0.625000	0.29200	0.863000	0.49368	1.935000	0.40173	2.366000	0.80165	0.655000	0.94253	CGC		0.652	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		5	63	0	0	0	0.000602	0	5	63				
CYP4F3	4051	broad.mit.edu	37	19	15769082	15769082	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15769082T>C	ENST00000221307.8	+	10	1171	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	CYP4F3_ENST00000585846.1_Missense_Mutation_p.L375P|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L375P|CYP4F3_ENST00000586182.2_Missense_Mutation_p.L375P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	375					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGGACGACCTGGCCCAGCTG	0.562																																							uc002nbj.2		NA																	0				ovary(3)	3						c.(1123-1125)CTG>CCG		cytochrome P450, family 4, subfamily F,							91.0	94.0	93.0					19																	15769082		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769082T>C	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1124T>C	19.37:g.15769082T>C	ENSP00000221307:p.Leu375Pro					CYP4F3_uc010xok.1_Missense_Mutation_p.L375P|CYP4F3_uc010xol.1_Missense_Mutation_p.L375P|CYP4F3_uc010xom.1_Missense_Mutation_p.L226P|CYP4F3_uc002nbk.2_Missense_Mutation_p.L375P|CYP4F3_uc010xon.1_Missense_Mutation_p.L85P	p.L375P	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			10	1174	+			375					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1124T>C	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.432162	0.43122	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.73152	-0.72	4.53	4.53	0.55603	.	0.234344	0.27754	U	0.017983	D	0.89511	0.6736	H	0.98629	4.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.92356	0.5893	10	0.87932	D	0	.	11.8201	0.52235	0.0:0.0:0.0:1.0	.	85;375;375	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	P	302;375	ENSP00000221307:L375P	ENSP00000221307:L375P	L	+	2	0	CYP4F3	15630082	1.000000	0.71417	0.994000	0.49952	0.005000	0.04900	7.270000	0.78493	1.682000	0.51000	0.254000	0.18369	CTG		0.562	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		28	126	0	0	0	0.002445	0	28	126				
C19orf44	84167	broad.mit.edu	37	19	16612359	16612359	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:16612359T>G	ENST00000221671.3	+	2	912	c.756T>G	c.(754-756)ttT>ttG	p.F252L	C19orf44_ENST00000594035.1_Missense_Mutation_p.F252L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	252										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAAACTATTTTCGGTGAGAt	0.343																																							uc002neh.1		NA																	0					0						c.(754-756)TTT>TTG		hypothetical protein LOC84167							20.0	22.0	21.0					19																	16612359		2120	4216	6336	SO:0001583	missense	84167							g.chr19:16612359T>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.756T>G	19.37:g.16612359T>G	ENSP00000221671:p.Phe252Leu					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.F252L|C19orf44_uc002neg.2_Missense_Mutation_p.F252L|C19orf44_uc010eai.1_RNA	p.F252L	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	829	+			252					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.756T>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	T	2.851	-0.238203	0.05944	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.59	-0.157	0.13387	.	1.136970	0.06752	N	0.780261	T	0.48804	0.1520	L	0.54323	1.7	0.80722	D	1	B;B	0.28291	0.206;0.172	B;B	0.28011	0.085;0.048	T	0.39121	-0.9629	9	0.31617	T	0.26	0.0162	5.1886	0.15197	0.0:0.5624:0.1526:0.2851	.	252;252	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	L	252	.	ENSP00000221671:F252L	F	+	3	2	C19orf44	16473359	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.256000	0.08757	0.107000	0.17824	-0.242000	0.12053	TTT		0.343	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	12	0	0	0	0.004482	0	7	12				
SIN3B	23309	broad.mit.edu	37	19	16980396	16980396	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:16980396G>C	ENST00000248054.5	+	13	1953	c.1932G>C	c.(1930-1932)caG>caC	p.Q644H	SIN3B_ENST00000379803.1_Missense_Mutation_p.Q676H|SIN3B_ENST00000595541.1_Missense_Mutation_p.Q234H					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGCGGCAGCCGGCCATCC	0.642																																							uc002ney.1		NA																	0				ovary(2)	2						c.(2026-2028)CAG>CAC		SIN3 homolog B, transcription regulator							39.0	40.0	39.0					19																	16980396		2202	4300	6502	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16980396G>C	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1932G>C	19.37:g.16980396G>C	ENSP00000248054:p.Gln644His					SIN3B_uc002nez.1_Missense_Mutation_p.Q644H|SIN3B_uc010xpi.1_Missense_Mutation_p.Q234H	p.Q676H	NM_015260	NP_056075	O75182	SIN3B_HUMAN			14	2042	+			676						Missense_Mutation	SNP	ENST00000248054.5	37	c.2028G>C		.	.	.	.	.	.	.	.	.	.	G	18.71	3.682839	0.68157	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.53857	0.64;0.6	4.36	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.86028	2.79	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.986;0.997;0.971	T	0.70357	-0.4894	10	0.44086	T	0.13	-40.0936	8.3226	0.32138	0.2406:0.0:0.7594:0.0	.	234;644;676	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	H	676;644	ENSP00000369131:Q676H;ENSP00000248054:Q644H	ENSP00000248054:Q644H	Q	+	3	2	SIN3B	16841396	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.679000	0.61649	1.950000	0.56595	0.313000	0.20887	CAG		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		6	49	0	0	0	0.001168	0	6	49				
USE1	55850	broad.mit.edu	37	19	17330029	17330029	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:17330029G>A	ENST00000263897.5	+	7	477	c.430G>A	c.(430-432)Gca>Aca	p.A144T	USE1_ENST00000379776.4_Intron|USE1_ENST00000445667.2_Missense_Mutation_p.A144T|USE1_ENST00000596136.1_Intron	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	144					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						CAGTGGAGTGGCAGGGTCCCA	0.512																																							uc002nfo.2		NA																	0					0						c.(430-432)GCA>ACA		unconventional SNARE in the ER 1 homolog							33.0	40.0	37.0					19																	17330029		2016	4201	6217	SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330029G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.430G>A	19.37:g.17330029G>A	ENSP00000263897:p.Ala144Thr					USE1_uc010eal.1_Intron	p.A144T	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			7	490	+			144			Cytoplasmic (Potential).		Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.430G>A	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464494	0.12402	.	.	ENSG00000053501	ENST00000263897;ENST00000445667	T;T	0.47869	0.85;0.83	3.35	-2.1	0.07210	.	1.237260	0.05615	N	0.578885	T	0.17534	0.0421	N	0.02011	-0.69	0.20703	N	0.999864	B	0.02656	0.0	B	0.01281	0.0	T	0.14643	-1.0465	10	0.15066	T	0.55	-0.9793	4.144	0.10207	0.419:0.0:0.4258:0.1552	.	144	Q9NZ43	USE1_HUMAN	T	144	ENSP00000263897:A144T;ENSP00000390287:A144T	ENSP00000263897:A144T	A	+	1	0	USE1	17191029	0.002000	0.14202	0.002000	0.10522	0.112000	0.19704	-0.029000	0.12329	-0.264000	0.09365	0.491000	0.48974	GCA		0.512	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		11	28	0	0	0	0.001855	0	11	28				
ARMC6	93436	broad.mit.edu	37	19	19162560	19162560	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19162560T>C	ENST00000535612.1	+	5	841	c.409T>C	c.(409-411)Tac>Cac	p.Y137H	ARMC6_ENST00000546344.1_Missense_Mutation_p.Y44H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Y137H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Y112H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Y112H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	137					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAAGGGGGCCTACCCCATCAT	0.637																																							uc002nld.2		NA																	0					0						c.(409-411)TAC>CAC		armadillo repeat containing 6							60.0	55.0	56.0					19																	19162560		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162560T>C	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.409T>C	19.37:g.19162560T>C	ENSP00000444156:p.Tyr137His					ARMC6_uc002nlc.2_Missense_Mutation_p.Y112H|ARMC6_uc010xql.1_Missense_Mutation_p.Y44H|ARMC6_uc002nle.2_Missense_Mutation_p.Y112H|ARMC6_uc010xqm.1_Missense_Mutation_p.Y137H	p.Y137H	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	757	+			137					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.409T>C	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897475	0.72639	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000541725;ENST00000269932;ENST00000546344;ENST00000540792;ENST00000541898;ENST00000535288;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	L	0.45352	1.415	0.58432	D	0.999998	D	0.53312	0.959	P	0.45881	0.496	T	0.30031	-0.9992	10	0.27785	T	0.31	-36.4521	13.558	0.61770	0.0:0.0:0.0:1.0	.	137	Q6NXE6	ARMC6_HUMAN	H	112;137;112;137;112;44;112;112;44;48;137	ENSP00000376147:Y112H;ENSP00000444156:Y137H;ENSP00000441948:Y112H;ENSP00000269932:Y112H;ENSP00000444341:Y44H;ENSP00000446037:Y112H;ENSP00000437580:Y44H;ENSP00000376148:Y137H	ENSP00000269932:Y112H	Y	+	1	0	ARMC6	19023560	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.289000	0.78701	1.793000	0.52555	0.379000	0.24179	TAC		0.637	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		17	77	0	0	0	0.004007	0	17	77				
HAPLN4	404037	broad.mit.edu	37	19	19369631	19369631	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19369631C>A	ENST00000291481.7	-	4	581	c.518G>T	c.(517-519)cGa>cTa	p.R173L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	173	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CAGCTTGTATCGGCCTCCACG	0.701																																							uc002nmb.2		NA																	0				pancreas(1)	1						c.(517-519)CGA>CTA		hyaluronan and proteoglycan link protein 4							8.0	8.0	8.0					19																	19369631		2145	4187	6332	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369631C>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.518G>T	19.37:g.19369631C>A	ENSP00000291481:p.Arg173Leu					HAPLN4_uc002nmc.2_Missense_Mutation_p.R173L	p.R173L	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	573	-			173			Link 1.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.518G>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304150	0.95601	.	.	ENSG00000187664	ENST00000291481	T	0.15256	2.44	3.97	3.97	0.46021	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	H	0.95950	3.745	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.71826	-0.4475	10	0.87932	D	0	-29.6016	14.7601	0.69600	0.0:1.0:0.0:0.0	.	173	Q86UW8	HPLN4_HUMAN	L	173	ENSP00000291481:R173L	ENSP00000291481:R173L	R	-	2	0	HAPLN4	19230631	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.820000	0.55693	2.055000	0.61198	0.313000	0.20887	CGA		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		6	9	1	0	3.59834e-05	0.001168	3.88908e-05	6	9				
TM6SF2	53345	broad.mit.edu	37	19	19381855	19381855	+	Missense_Mutation	SNP	C	C	A	rs371823523		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19381855C>A	ENST00000389363.4	-	2	247	c.175G>T	c.(175-177)Gtc>Ttc	p.V59F	TM6SF2_ENST00000586107.1_Intron|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	59						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TCATAGGAGACCTCGCCATGG	0.587																																							uc002nmd.1		NA																	0					0						c.(175-177)GTC>TTC		transmembrane 6 superfamily member 2		C	PHE/VAL	0,4120		0,0,2060	92.0	95.0	94.0		175	1.4	0.0	19		94	1,8437		0,1,4218	no	missense	TM6SF2	NM_001001524.2	50	0,1,6278	AA,AC,CC		0.0119,0.0,0.0080	benign	59/378	19381855	1,12557	2060	4219	6279	SO:0001583	missense	53345					integral to membrane		g.chr19:19381855C>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.175G>T	19.37:g.19381855C>A	ENSP00000374014:p.Val59Phe					HAPLN4_uc002nmc.2_5'UTR	p.V59F	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		2	225	-			59					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.175G>T	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	C	6.862	0.528380	0.13127	0.0	1.19E-4	ENSG00000213996	ENST00000389363;ENST00000431465;ENST00000269990	T	0.35421	1.31	4.73	1.44	0.22558	.	0.466924	0.15471	U	0.260596	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.17048	-1.0382	10	0.52906	T	0.07	-11.3156	6.3387	0.21310	0.0:0.3076:0.0:0.6924	.	59	Q9BZW4	TM6S2_HUMAN	F	59	ENSP00000374014:V59F	ENSP00000269990:V59F	V	-	1	0	TM6SF2	19242855	0.789000	0.28775	0.043000	0.18650	0.029000	0.11900	0.978000	0.29488	0.032000	0.15435	-0.416000	0.06073	GTC		0.587	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		50	82	1	0	2.48254e-18	0.00361	3.15775e-18	50	82				
ZNF93	81931	broad.mit.edu	37	19	20044841	20044841	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:20044841T>C	ENST00000343769.5	+	4	1105	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	359					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TTAGTAGACATGAGTTCATTC	0.373																																							uc002non.2		NA																	0				pancreas(1)	1						c.(1075-1077)CAT>CAC		zinc finger protein 93							101.0	99.0	100.0					19																	20044841		2203	4300	6503	SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044841T>C	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1077T>C	19.37:g.20044841T>C							p.H359H	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1188	+			359			C2H2-type 8.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.1077T>C	CCDS32973.1																																																																																				0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		14	72	0	0	0	0.003163	0	14	72				
ZNF536	9745	broad.mit.edu	37	19	30935669	30935669	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:30935669G>T	ENST00000355537.3	+	2	1347	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	400					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAAGCTGTCGGTGAAGAACA	0.612																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1198-1200)TCG>TCT		zinc finger protein 536							54.0	56.0	55.0					19																	30935669		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935669G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1200G>T	19.37:g.30935669G>T						ZNF536_uc010edd.1_Silent_p.S400S	p.S400S	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1338	+	Esophageal squamous(110;0.0834)		400					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1200G>T	CCDS32984.1																																																																																				0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		25	88	1	0	1.1804e-14	0.003954	1.47431e-14	25	88				
ZNF536	9745	broad.mit.edu	37	19	31039043	31039043	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:31039043G>T	ENST00000355537.3	+	4	2664	c.2517G>T	c.(2515-2517)agG>agT	p.R839S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	839					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R839S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCCTGAGGGGGGCCTTCA	0.582																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2515-2517)AGG>AGT		zinc finger protein 536							65.0	73.0	71.0					19																	31039043		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039043G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2517G>T	19.37:g.31039043G>T	ENSP00000347730:p.Arg839Ser					ZNF536_uc010edd.1_Missense_Mutation_p.R839S	p.R839S	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2655	+	Esophageal squamous(110;0.0834)		839					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2517G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350707	0.24512	.	.	ENSG00000198597	ENST00000355537	T	0.09538	2.97	5.98	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	L	0.34521	1.04	0.46028	D	0.998824	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.01639	-1.1306	10	0.62326	D	0.03	-37.5837	7.5534	0.27810	0.2735:0.0:0.7265:0.0	.	839;839	A7E228;O15090	.;ZN536_HUMAN	S	839	ENSP00000347730:R839S	ENSP00000347730:R839S	R	+	3	2	ZNF536	35730883	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	1.191000	0.32138	1.506000	0.48736	0.591000	0.81541	AGG		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		38	92	1	0	5.43694e-19	0.005524	6.95838e-19	38	92				
RHPN2	85415	broad.mit.edu	37	19	33486947	33486947	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:33486947C>T	ENST00000254260.3	-	11	1440	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A318T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	469					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACACTGGGGGCGTCGATCAGG	0.627																																							uc002nuf.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(1405-1407)GCC>ACC		rhophilin, Rho GTPase binding protein 2							78.0	61.0	67.0					19																	33486947		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33486947C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1405G>A	19.37:g.33486947C>T	ENSP00000254260:p.Ala469Thr					RHPN2_uc010xro.1_Missense_Mutation_p.A318T|RHPN2_uc002nue.2_Missense_Mutation_p.A199T	p.A469T	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			11	1471	-	Esophageal squamous(110;0.137)		469					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1405G>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030868	0.75504	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.18016	2.24;2.24	4.86	3.83	0.44106	BRO1 domain (2);	0.046334	0.85682	D	0.000000	T	0.41858	0.1177	M	0.89904	3.07	0.54753	D	0.999989	D	0.67145	0.996	P	0.58172	0.834	T	0.51309	-0.8722	10	0.72032	D	0.01	-0.1003	11.3814	0.49759	0.0:0.9153:0.0:0.0847	.	469	Q8IUC4	RHPN2_HUMAN	T	469;199;318	ENSP00000254260:A469T;ENSP00000402244:A318T	ENSP00000254260:A469T	A	-	1	0	RHPN2	38178787	0.984000	0.35163	0.010000	0.14722	0.015000	0.08874	4.706000	0.61845	1.057000	0.40506	-0.237000	0.12165	GCC		0.627	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		7	77	0	0	0	0.00308	0	7	77				
UBA2	10054	broad.mit.edu	37	19	34949785	34949785	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:34949785C>T	ENST00000246548.4	+	13	1427	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	UBA2_ENST00000592791.1_5'UTR|UBA2_ENST00000439527.2_Missense_Mutation_p.R357W	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	453					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGTGACTGTGCGGCTGAATGT	0.458																																							uc002nvk.2		NA																	0				ovary(1)	1						c.(1357-1359)CGG>TGG		SUMO-1 activating enzyme subunit 2							121.0	105.0	110.0					19																	34949785		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34949785C>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1357C>T	19.37:g.34949785C>T	ENSP00000246548:p.Arg453Trp					UBA2_uc010xrx.1_Missense_Mutation_p.R326W|UBA2_uc002nvl.2_Missense_Mutation_p.R357W	p.R453W	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		13	1427	+	Esophageal squamous(110;0.162)		453					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1357C>T	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616800	0.66672	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.30714	1.52;1.52	5.5	4.38	0.52667	Molybdenum cofactor biosynthesis, MoeB (1);	0.101059	0.64402	D	0.000002	T	0.23370	0.0565	L	0.34521	1.04	0.50632	D	0.99988	B	0.16166	0.016	B	0.14578	0.011	T	0.04333	-1.0959	10	0.54805	T	0.06	-11.3141	10.9427	0.47283	0.3461:0.6539:0.0:0.0	.	453	Q9UBT2	SAE2_HUMAN	W	453;357	ENSP00000246548:R453W;ENSP00000437484:R357W	ENSP00000246548:R453W	R	+	1	2	UBA2	39641625	1.000000	0.71417	0.568000	0.28447	0.983000	0.72400	4.320000	0.59203	2.732000	0.93576	0.650000	0.86243	CGG		0.458	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		14	102	0	0	0	0.00245	0	14	102				
ZNF792	126375	broad.mit.edu	37	19	35451185	35451185	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:35451185A>G	ENST00000404801.1	-	3	623	c.237T>C	c.(235-237)gaT>gaC	p.D79D	ZNF792_ENST00000605484.1_Silent_p.D12D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGATGTCATATCCACACTGT	0.537																																					GBM(1;7 183 21053 22581 22847)	GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NA																	0					0						c.(235-237)GAT>GAC		zinc finger protein 792							111.0	79.0	89.0					19																	35451185		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451185A>G	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.237T>C	19.37:g.35451185A>G							p.D79D	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	624	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		79			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.237T>C	CCDS12440.2																																																																																				0.537	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		10	31	0	0	0	0.000978	0	10	31				
U2AF1L4	199746	broad.mit.edu	37	19	36233696	36233696	+	Missense_Mutation	SNP	G	G	A	rs146316690		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:36233696G>A	ENST00000412391.2	-	8	600	c.587C>T	c.(586-588)cCg>cTg	p.P196L	AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|AD000671.6_ENST00000589807.1_Intron|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.P157L|IGFLR1_ENST00000592537.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|U2AF1L4_ENST00000292879.5_Nonsense_Mutation_p.R138*|IGFLR1_ENST00000587101.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	196					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGAACCTCGGGGGTGACCT	0.607																																							uc002obg.2		NA																	0					0						c.(484-486)CGA>TGA		Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.		G	LEU/PRO,stop/ARG	0,4406		0,0,2203	60.0	67.0	65.0		470,412	2.8	0.8	19	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	yes	missense,stop-gained	U2AF1L4	NM_001040425.1,NM_144987.2	98,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	157/182,138/203	36233696	1,13005	2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36233696G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.587C>T	19.37:g.36233696G>A	ENSP00000397645:p.Pro196Leu					TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.P157L|U2AF1L4_uc002obf.2_Nonsense_Mutation_p.R138*|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank	p.R162*			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	793	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q8WU68_after_alignment					A6NKI8|Q56UU3	Nonsense_Mutation	SNP	ENST00000412391.2	37	c.484C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570904|1.570904	0.28003|0.28003	0.0|0.0	1.16E-4|1.16E-4	ENSG00000161265|ENSG00000161265	ENST00000378975;ENST00000412391|ENST00000292879	.|.	.|.	.|.	4.93|4.93	2.81|2.81	0.32909|0.32909	.|.	.|2.524080	.|0.01490	.|N	.|0.017036	T|.	0.19765|.	0.0475|.	.|.	.|.	.|.	0.33216|0.33216	D|D	0.554018|0.554018	B|.	0.30824|.	0.296|.	B|.	0.28139|.	0.086|.	T|.	0.47018|.	-0.9149|.	7|.	0.29301|0.02654	T|T	0.29|1	-0.5134|-0.5134	6.6914|6.6914	0.23174|0.23174	0.0951:0.1798:0.7252:0.0|0.0951:0.1798:0.7252:0.0	.|.	157|.	Q8WU68-3|.	.|.	L|X	157;196|138	.|.	ENSP00000368258:P157L|ENSP00000292879:R138X	P|R	-|-	2|1	0|2	U2AF1L4|U2AF1L4	40925536|40925536	0.017000|0.017000	0.18338|0.18338	0.808000|0.808000	0.32385|0.32385	0.002000|0.002000	0.02628|0.02628	0.650000|0.650000	0.24858|0.24858	0.690000|0.690000	0.31570|0.31570	-0.217000|-0.217000	0.12591|0.12591	CCG|CGA		0.607	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		12	69	0	0	0	0.001855	0	12	69				
NPHS1	4868	broad.mit.edu	37	19	36342575	36342575	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:36342575C>T	ENST00000378910.5	-	2	58		c.e2-1		NPHS1_ENST00000353632.6_Splice_Site|NPHS1_ENST00000591817.1_Splice_Site	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)						cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCGCCAGGCCTGAGGACACA	0.642																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.e2-1		nephrin precursor							24.0	24.0	24.0					19																	36342575		2202	4298	6500	SO:0001630	splice_region_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342575C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.59-1G>A	19.37:g.36342575C>T							p.G20_splice	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	59	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)							A6NDH2|C3RX61	Splice_Site	SNP	ENST00000378910.5	37	c.59_splice	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616043	0.46631	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	5.18	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2142	0.43158	0.0:0.9045:0.0:0.0955	.	.	.	.	.	-1	.	.	.	-	.	.	NPHS1	41034415	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.468000	0.45102	2.430000	0.82344	0.644000	0.83932	.		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		Intron	5	6	0	0	0	0.001984	0	5	6				
ZNF585A	199704	broad.mit.edu	37	19	37644495	37644495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:37644495C>T	ENST00000356958.4	-	5	564	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.W47*|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.W47*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.W47*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTATGGTCCCATAATTTCT	0.318																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(304-306)TGG>TGA		zinc finger protein 585A							110.0	115.0	113.0					19																	37644495		2202	4299	6501	SO:0001587	stop_gained	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644495C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.306G>A	19.37:g.37644495C>T	ENSP00000349440:p.Trp102*					ZNF585A_uc002ofm.1_Nonsense_Mutation_p.W47*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.W47*	p.W102*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	537	-			102					Q8TE95|Q96MV3	Nonsense_Mutation	SNP	ENST00000356958.4	37	c.306G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.063810	0.93898	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	.	.	.	3.76	1.4	0.22301	.	1.823850	0.03353	U	0.196420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	2.4157	0.04436	0.1694:0.4108:0.3075:0.1123	.	.	.	.	X	102;47;47;47	.	ENSP00000292841:W47X	W	-	3	0	ZNF585A	42336335	0.000000	0.05858	0.017000	0.16124	0.070000	0.16714	-0.322000	0.08007	0.910000	0.36722	0.655000	0.94253	TGG		0.318	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		25	114	0	0	0	0.003954	0	25	114				
RASGRP4	115727	broad.mit.edu	37	19	38905617	38905617	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:38905617G>C	ENST00000587738.1	-	9	1171	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	RASGRP4_ENST00000586305.1_Missense_Mutation_p.D353E|RASGRP4_ENST00000454404.2_Missense_Mutation_p.D333E|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D270E|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000433821.2_Intron			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	367	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGCAACCTGTCGGGCTGTG	0.682																																							uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1099-1101)GAC>GAG		RAS guanyl releasing protein 4 isoform a							25.0	32.0	29.0					19																	38905617		2066	4208	6274	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38905617G>C	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1101C>G	19.37:g.38905617G>C	ENSP00000465772:p.Asp367Glu					RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Intron|RASGRP4_uc010xub.1_Missense_Mutation_p.D333E|RASGRP4_uc010xuc.1_Intron|RASGRP4_uc010xud.1_Missense_Mutation_p.D270E|RASGRP4_uc010xue.1_Intron|RASGRP4_uc010egb.2_Missense_Mutation_p.D353E	p.D367E	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	1315	-	all_cancers(60;4.21e-06)		367			Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.1101C>G	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324743	0.60634	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T	0.34472	1.36	4.81	2.63	0.31362	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.112754	0.64402	D	0.000005	T	0.58793	0.2147	M	0.86805	2.84	0.42635	D	0.993394	D;D;D;D	0.89917	0.971;1.0;1.0;1.0	D;D;D;D	0.97110	0.936;0.998;1.0;0.998	T	0.61282	-0.7094	10	0.56958	D	0.05	-34.0759	6.973	0.24658	0.2802:0.0:0.7198:0.0	.	270;333;353;367	C0LTP7;C0LTP4;Q8TDF6-2;Q8TDF6	.;.;.;GRP4_HUMAN	E	270;367;367	ENSP00000293062:D270E	ENSP00000293062:D270E	D	-	3	2	RASGRP4	43597457	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.451000	0.44952	1.238000	0.43771	0.561000	0.74099	GAC		0.682	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		3	26	0	0	0	0.004672	0	3	26				
PAK4	10298	broad.mit.edu	37	19	39664348	39664348	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:39664348G>A	ENST00000593690.1	+	6	1223	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PAK4_ENST00000599470.1_Missense_Mutation_p.A113T|PAK4_ENST00000599386.1_Missense_Mutation_p.A113T|PAK4_ENST00000358301.3_Missense_Mutation_p.A266T|PAK4_ENST00000435673.2_Missense_Mutation_p.A266T|PAK4_ENST00000360442.3_Missense_Mutation_p.A266T|PAK4_ENST00000321944.4_Missense_Mutation_p.A176T	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	266	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGGACCCCACGCCTCAGAGCC	0.756																																							uc002okj.1		NA																	0				lung(3)|ovary(1)	4						c.(796-798)GCC>ACC		p21-activated kinase 4 isoform 1							4.0	5.0	5.0					19																	39664348		1999	3952	5951	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664348G>A	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.796G>A	19.37:g.39664348G>A	ENSP00000469413:p.Ala266Thr					PAK4_uc002okl.1_Missense_Mutation_p.A266T|PAK4_uc002okn.1_Missense_Mutation_p.A266T|PAK4_uc002okm.1_Missense_Mutation_p.A113T|PAK4_uc002oko.1_Missense_Mutation_p.A113T|PAK4_uc002okp.1_Missense_Mutation_p.A176T	p.A266T	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		6	1257	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		266			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.796G>A	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	3.835	-0.034970	0.07543	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	T;T;T	0.71817	-0.6;-0.6;-0.6	4.0	2.89	0.33648	.	0.695291	0.14072	N	0.343308	T	0.59959	0.2232	N	0.14661	0.345	0.35305	D	0.783383	D;B;B	0.71674	0.998;0.072;0.102	P;B;B	0.58928	0.848;0.026;0.019	T	0.59984	-0.7351	10	0.12766	T	0.61	.	4.8383	0.13476	0.1122:0.0:0.675:0.2128	.	176;113;266	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	T	266;113;70;266;266	ENSP00000351049:A266T;ENSP00000392753:A266T;ENSP00000353625:A266T	ENSP00000326864:A113T	A	+	1	0	PAK4	44356188	0.042000	0.20092	0.988000	0.46212	0.280000	0.26924	1.846000	0.39289	2.066000	0.61787	0.455000	0.32223	GCC		0.756	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			3	9	0	0	0	0.004672	0	3	9				
PSMC4	5704	broad.mit.edu	37	19	40487098	40487098	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:40487098G>T	ENST00000157812.2	+	11	1341		c.e11-1		PSMC4_ENST00000455878.2_Splice_Site	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCTTCAACAGAGTGGAATGT	0.493																																					Colon(105;1478 1543 4034 6132 38638)	Colon(105;1478 1543 4034 6132 38638)	uc002omq.2		NA																	0				ovary(1)	1						c.e11-1		proteasome 26S ATPase subunit 4 isoform 1							164.0	137.0	146.0					19																	40487098		2203	4300	6503	SO:0001630	splice_region_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40487098G>T	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1144-1G>T	19.37:g.40487098G>T						PSMC4_uc002omr.2_Splice_Site_p.S351_splice	p.S382_splice	NM_006503	NP_006494	P43686	PRS6B_HUMAN			11	1181	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)							Q96FV5|Q9UBM3|Q9UEX3	Splice_Site	SNP	ENST00000157812.2	37	c.1144_splice	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395346	0.83011	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5703	0.76330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC4	45178938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.086000	0.89520	2.540000	0.85666	0.561000	0.74099	.		0.493	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	Intron	6	53	1	0	0.00116845	0.001168	0.00122973	6	53				
HIPK4	147746	broad.mit.edu	37	19	40895596	40895596	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:40895596C>T	ENST00000291823.2	-	1	498	c.214G>A	c.(214-216)Gtc>Atc	p.V72I		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AAGCGGATGACGTGGGCCTCT	0.522																																							uc002onp.2		NA																	0				ovary(1)|stomach(1)	2						c.(214-216)GTC>ATC		homeodomain interacting protein kinase 4							147.0	132.0	137.0					19																	40895596		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895596C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.214G>A	19.37:g.40895596C>T	ENSP00000291823:p.Val72Ile						p.V72I	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	499	-			72			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.214G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	5.830	0.337421	0.11013	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.14640	2.49	5.21	-5.52	0.02560	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.441048	0.19276	N	0.118291	T	0.02418	0.0074	N	0.01076	-1.035	0.28551	N	0.911592	B	0.09022	0.002	B	0.04013	0.001	T	0.39099	-0.9630	10	0.02654	T	1	.	7.6756	0.28484	0.1101:0.3458:0.0:0.5441	.	72	Q8NE63	HIPK4_HUMAN	I	72;37	ENSP00000291823:V72I	ENSP00000291823:V72I	V	-	1	0	HIPK4	45587436	0.039000	0.19947	0.882000	0.34594	0.977000	0.68977	-0.708000	0.05035	-0.663000	0.05331	0.563000	0.77884	GTC		0.522	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		15	163	0	0	0	0.00245	0	15	163				
SPTBN4	57731	broad.mit.edu	37	19	40996054	40996054	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:40996054G>C	ENST00000352632.3	+	4	480	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E132Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E132Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E132Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E132Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	132	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTTTCTGAAGGAGCAGCGCGT	0.652																																							uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(394-396)GAG>CAG		spectrin, beta, non-erythrocytic 4 isoform							101.0	80.0	87.0					19																	40996054		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40996054G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.394G>C	19.37:g.40996054G>C	ENSP00000263373:p.Glu132Gln					SPTBN4_uc002onx.2_Missense_Mutation_p.E132Q|SPTBN4_uc002onz.2_Missense_Mutation_p.E132Q	p.E132Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	480	+			132			CH 1.|Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.394G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522558	0.96431	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	D;D;D	0.95412	-3.7;-3.7;-3.7	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.64402	U	0.000020	D	0.95896	0.8664	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.984	D	0.96444	0.9329	10	0.59425	D	0.04	.	16.6882	0.85315	0.0:0.0:1.0:0.0	.	132;132	Q9H254;Q71S06	SPTN4_HUMAN;.	Q	132	ENSP00000263373:E132Q;ENSP00000340345:E132Q;ENSP00000340741:E132Q	ENSP00000340345:E132Q	E	+	1	0	SPTBN4	45687894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.586000	0.98226	2.459000	0.83118	0.579000	0.79373	GAG		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	54	0	0	0	0.009096	0	4	54				
ADCK4	79934	broad.mit.edu	37	19	41211353	41211353	+	Splice_Site	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:41211353C>G	ENST00000324464.3	-	6	669		c.e6-1		ADCK4_ENST00000450541.1_Intron|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000243583.6_Intron	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GAACCACCCTCTGGGGAGAGA	0.587																																							uc002oor.2		NA																	0					0						c.e6-1		aarF domain containing kinase 4 isoform a							43.0	46.0	45.0					19																	41211353		2203	4300	6503	SO:0001630	splice_region_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41211353C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.368-1G>C	19.37:g.41211353C>G						ADCK4_uc002ooq.1_Intron|ADCK4_uc002oos.2_Intron	p.E123_splice	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		6	670	-								Q8TAJ1|Q9HA52	Splice_Site	SNP	ENST00000324464.3	37	c.368_splice	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516384	0.64634	.	.	ENSG00000123815	ENST00000324464	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1591	0.86799	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCK4	45903193	1.000000	0.71417	0.138000	0.22173	0.206000	0.24218	4.274000	0.58921	2.342000	0.79632	0.561000	0.74099	.		0.587	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	Intron	13	50	0	0	0	0.001368	0	13	50				
CYP2A6	1548	broad.mit.edu	37	19	41355874	41355874	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:41355874G>T	ENST00000301141.5	-	2	212	c.192C>A	c.(190-192)cgC>cgA	p.R64R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	64					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CGGGGCCATAGCGCTCACTGA	0.617																																							uc002opl.3		NA																	0				ovary(2)	2						c.(190-192)CGC>CGA		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						72.0	66.0	68.0					19																	41355874		2203	4300	6503	SO:0001819	synonymous_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41355874G>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.192C>A	19.37:g.41355874G>T						CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_RNA	p.R64R	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	213	-			64					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	c.192C>A	CCDS12568.1																																																																																				0.617	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		15	101	1	0	4.93089e-13	0.00245	6.08535e-13	15	101				
GRIK5	2901	broad.mit.edu	37	19	42558011	42558011	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:42558011C>T	ENST00000262895.3	-	9	1126	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	GRIK5_ENST00000593562.1_Missense_Mutation_p.R376H|GRIK5_ENST00000301218.4_Missense_Mutation_p.R376H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	376					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R376H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCTAGGATGCGCAGGGTGTA	0.662																																							uc002osj.1		NA																	2	Substitution - Missense(2)		large_intestine(2)		0						c.(1126-1128)CGC>CAC		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						79.0	68.0	72.0					19																	42558011		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558011C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1127G>A	19.37:g.42558011C>T	ENSP00000262895:p.Arg376His					GRIK5_uc010eib.1_Missense_Mutation_p.R295H	p.R376H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			9	1162	-		Prostate(69;0.059)	376			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1127G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658932	0.67586	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.20463	2.07;2.07	5.44	5.44	0.79542	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.02916	-0.46	0.39684	D	0.970941	B	0.24675	0.109	B	0.15870	0.014	T	0.17653	-1.0362	10	0.72032	D	0.01	.	18.0289	0.89277	0.0:1.0:0.0:0.0	.	376	Q16478	GRIK5_HUMAN	H	376	ENSP00000262895:R376H;ENSP00000301218:R376H	ENSP00000262895:R376H	R	-	2	0	GRIK5	47249851	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.407000	0.44565	2.546000	0.85860	0.655000	0.94253	CGC		0.662	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			4	39	0	0	0	0.000602	0	4	39				
ZNF574	64763	broad.mit.edu	37	19	42584388	42584388	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:42584388A>T	ENST00000600245.1	+	2	2285	c.1630A>T	c.(1630-1632)Aca>Tca	p.T544S	ZNF574_ENST00000359044.4_Missense_Mutation_p.T544S|ZNF574_ENST00000222339.7_Missense_Mutation_p.T634S|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCACCGGCTCACACACACAGG	0.647																																							uc002osm.3		NA																	0					0						c.(1630-1632)ACA>TCA		zinc finger protein 574							97.0	109.0	105.0					19																	42584388		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584388A>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1630A>T	19.37:g.42584388A>T	ENSP00000469029:p.Thr544Ser					ZNF574_uc002osk.3_Missense_Mutation_p.T634S	p.T544S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1799	+		Prostate(69;0.059)	544			C2H2-type 11.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1630A>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305403	0.60305	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.19394	2.15;2.15	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.066953	0.64402	D	0.000017	T	0.36331	0.0963	L	0.41415	1.275	0.43283	D	0.995254	D;D	0.76494	0.998;0.999	D;D	0.71414	0.966;0.973	T	0.07404	-1.0774	10	0.52906	T	0.07	-8.932	14.0101	0.64490	1.0:0.0:0.0:0.0	.	544;633	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	634;544;151	ENSP00000222339:T634S;ENSP00000351939:T544S	ENSP00000222339:T634S	T	+	1	0	ZNF574	47276228	0.965000	0.33210	0.999000	0.59377	0.766000	0.43426	6.308000	0.72820	1.958000	0.56883	0.528000	0.53228	ACA		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		35	191	0	0	0	0.003271	0	35	191				
PSG9	5678	broad.mit.edu	37	19	43763165	43763165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:43763165G>A	ENST00000270077.3	-	4	928	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Nonsense_Mutation_p.Q185*|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.Q185*	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	278	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGAGGCTCTGACCGTTTAGC	0.478																																							uc002owd.3		NA																	0				ovary(1)|skin(1)	2						c.(832-834)CAG>TAG		pregnancy specific beta-1-glycoprotein 9							215.0	227.0	223.0					19																	43763165		2144	4281	6425	SO:0001587	stop_gained	5678				female pregnancy	extracellular region		g.chr19:43763165G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.832C>T	19.37:g.43763165G>A	ENSP00000270077:p.Gln278*					PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Nonsense_Mutation_p.Q185*|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.Q278*	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	931	-		Prostate(69;0.00682)	278			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Nonsense_Mutation	SNP	ENST00000270077.3	37	c.832C>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	6.148	0.395482	0.11638	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	.	.	.	0.805	-0.625	0.11548	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	3.7944	0.08733	0.0:0.0:0.5782:0.4218	.	.	.	.	X	278;185;239	.	ENSP00000270077:Q278X	Q	-	1	0	PSG9	48455005	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.316000	0.08071	-0.125000	0.11703	0.194000	0.17425	CAG		0.478	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		71	318	0	0	0	0.00361	0	71	318				
ZNF230	7773	broad.mit.edu	37	19	44515277	44515277	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:44515277A>G	ENST00000429154.2	+	5	1314	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GTGGAGAAAAACCATACAGAT	0.438																																					GBM(175;914 2069 22996 47111 52600)	GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NA																	0					0						c.(1084-1086)AAA>AAG		zinc finger protein 230							117.0	109.0	112.0					19																	44515277		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515277A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1086A>G	19.37:g.44515277A>G							p.K362K	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1337	+		Prostate(69;0.0352)	362					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.1086A>G	CCDS33044.1																																																																																				0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			31	95	0	0	0	0.009535	0	31	95				
ZNF230	7773	broad.mit.edu	37	19	44515285	44515285	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:44515285G>A	ENST00000429154.2	+	5	1322	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAACCATACAGATGTGAGGAG	0.443																																					GBM(175;914 2069 22996 47111 52600)	GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NA																	0					0						c.(1093-1095)AGA>AAA		zinc finger protein 230							116.0	108.0	111.0					19																	44515285		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515285G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1094G>A	19.37:g.44515285G>A	ENSP00000409318:p.Arg365Lys						p.R365K	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1345	+		Prostate(69;0.0352)	365			C2H2-type 8.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1094G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	3.796	-0.042760	0.07452	.	.	ENSG00000159882	ENST00000429154	T	0.13307	2.6	2.55	-5.09	0.02920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.00855	-1.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	9	0.02654	T	1	.	4.6371	0.12530	0.2458:0.0:0.1894:0.5648	.	365	Q9UIE0	ZN230_HUMAN	K	365	ENSP00000409318:R365K	ENSP00000409318:R365K	R	+	2	0	ZNF230	49207125	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-4.543000	0.00218	-2.852000	0.00330	0.205000	0.17691	AGA		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			29	102	0	0	0	0.007291	0	29	102				
APOC1	341	broad.mit.edu	37	19	45419501	45419501	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:45419501A>G	ENST00000588750.1	+	4	438	c.113A>G	c.(112-114)aAg>aGg	p.K38R	APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Missense_Mutation_p.K38R|APOC1_ENST00000252491.4_Missense_Mutation_p.K38R|APOC1_ENST00000592885.1_Missense_Mutation_p.K38R|APOC1_ENST00000588802.1_Missense_Mutation_p.K38R			P02654	APOC1_HUMAN	apolipoprotein C-I	38					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GATAAGCTGAAGGAGTTTGGA	0.527																																							uc002pac.1		NA																	0					0						c.(112-114)AAG>AGG		apolipoprotein C-I precursor							77.0	75.0	76.0					19																	45419501		2203	4300	6503	SO:0001583	missense	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45419501A>G	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.113A>G	19.37:g.45419501A>G	ENSP00000465356:p.Lys38Arg					APOC1_uc002pad.1_Missense_Mutation_p.K38R|APOC1_uc002pae.1_Missense_Mutation_p.K38R|APOC1_uc002paf.1_RNA	p.K38R	NM_001645	NP_001636	P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	365	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	38					B2R526|Q6IB97	Missense_Mutation	SNP	ENST00000588750.1	37	c.113A>G	CCDS12648.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442180	0.63067	.	.	ENSG00000130208	ENST00000252491	T	0.54279	0.58	4.26	3.22	0.36961	.	0.000000	0.45361	D	0.000368	T	0.64811	0.2632	.	.	.	0.24696	N	0.993288	D	0.76494	0.999	D	0.70487	0.969	T	0.54689	-0.8256	9	0.51188	T	0.08	-22.9895	7.7675	0.28988	0.7865:0.2135:0.0:0.0	.	38	P02654	APOC1_HUMAN	R	38	ENSP00000252491:K38R	ENSP00000252491:K38R	K	+	2	0	APOC1	50111341	0.077000	0.21312	0.271000	0.24616	0.285000	0.27093	0.979000	0.29500	0.766000	0.33244	0.454000	0.30748	AAG		0.527	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			7	80	0	0	0	0.00308	0	7	80				
ARHGAP35	2909	broad.mit.edu	37	19	47424279	47424279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:47424279C>T	ENST00000404338.3	+	1	2347	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	783					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TGTTGATCTGCGAATTGTTAT	0.423																																							uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(2347-2349)CGA>TGA		glucocorticoid receptor DNA binding factor 1							124.0	123.0	123.0					19																	47424279		1993	4177	6170	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424279C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2347C>T	19.37:g.47424279C>T	ENSP00000385720:p.Arg783*						p.R783*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2347	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	783					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.2347C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	39	7.407866	0.98265	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.272	18.2664	0.90053	0.0:1.0:0.0:0.0	.	.	.	.	X	783	.	ENSP00000324820:R783X	R	+	1	2	ARHGAP35	52116119	0.288000	0.24324	0.998000	0.56505	0.895000	0.52256	0.912000	0.28597	2.684000	0.91462	0.655000	0.94253	CGA		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		5	33	0	0	0	0.000602	0	5	33				
GRIN2D	2906	broad.mit.edu	37	19	48945587	48945587	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:48945587G>A	ENST00000263269.3	+	12	2709	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	874					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGCGCCTGCGGCACTGCCTG	0.672																																							uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(2620-2622)CGG>CAG		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						79.0	82.0	81.0					19																	48945587		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945587G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2621G>A	19.37:g.48945587G>A	ENSP00000263269:p.Arg874Gln					GRIN2D_uc010elx.2_Missense_Mutation_p.R109Q	p.R874Q	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2709	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	874			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.2621G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.940088	0.92526	.	.	ENSG00000105464	ENST00000263269	T	0.50001	0.76	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	T	0.58352	0.2116	L	0.48362	1.52	0.58432	D	0.999999	D	0.76494	0.999	P	0.61275	0.886	T	0.64054	-0.6497	10	0.87932	D	0	.	15.1404	0.72607	0.0:0.0:1.0:0.0	.	874	O15399	NMDE4_HUMAN	Q	874	ENSP00000263269:R874Q	ENSP00000263269:R874Q	R	+	2	0	GRIN2D	53637399	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.443000	0.97568	2.161000	0.67846	0.450000	0.29827	CGG		0.672	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			26	90	0	0	0	0.004656	0	26	90				
CYTH2	9266	broad.mit.edu	37	19	48981711	48981711	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:48981711A>G	ENST00000452733.2	+	11	1450	c.974A>G	c.(973-975)tAc>tGc	p.Y325C	CYTH2_ENST00000427476.1_Missense_Mutation_p.Y326C|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTTGAACTTTACATCCCCAAC	0.607																																							uc002pjj.3		NA																	0				ovary(1)	1						c.(976-978)TAC>TGC		cytohesin 2 isoform 1							93.0	90.0	91.0					19																	48981711		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981711A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.974A>G	19.37:g.48981711A>G	ENSP00000408236:p.Tyr325Cys					CYTH2_uc002pji.2_RNA	p.Y326C	NM_017457	NP_059431	Q99418	CYH2_HUMAN			12	1277	+			326			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.977A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480649	0.63849	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.75477	-0.94;-0.94	4.62	3.6	0.41247	.	0.073243	0.56097	D	0.000029	T	0.81536	0.4843	M	0.64080	1.96	0.53688	D	0.999978	D	0.76494	0.999	D	0.72075	0.976	T	0.81134	-0.1071	10	0.72032	D	0.01	.	8.6446	0.33998	0.9077:0.0:0.0923:0.0	.	325	Q99418-2	.	C	325;326	ENSP00000408236:Y325C;ENSP00000391648:Y326C	ENSP00000391648:Y326C	Y	+	2	0	CYTH2	53673523	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	4.052000	0.57420	0.894000	0.36317	0.533000	0.62120	TAC		0.607	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		15	78	0	0	0	0.007413	0	15	78				
PRMT1	3276	broad.mit.edu	37	19	50185191	50185191	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:50185191A>G	ENST00000391851.4	+	3	292	c.163A>G	c.(163-165)Acc>Gcc	p.T55A	PRMT1_ENST00000532489.1_Missense_Mutation_p.T27A|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000454376.2_Missense_Mutation_p.T73A	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	63	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGAGGTGCGCACCCTCACTTA	0.597																																							uc010enf.1		NA																	0				ovary(1)	1						c.(217-219)ACC>GCC		HMT1 hnRNP methyltransferase-like 2 isoform 1							69.0	56.0	60.0					19																	50185191		2203	4300	6503	SO:0001583	missense	3276					cytoplasm	protein methyltransferase activity	g.chr19:50185191A>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.163A>G	19.37:g.50185191A>G	ENSP00000375724:p.Thr55Ala					PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.T49A|PRMT1_uc002ppe.2_Missense_Mutation_p.T55A|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.T20A|PRMT1_uc010yba.1_RNA	p.T73A	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	259	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	54					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.217A>G	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314616	0.60524	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000528623;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.71674	0.997;0.983;0.99;0.998	P;P;D;D	0.65773	0.869;0.795;0.938;0.938	T	0.58457	-0.7633	10	0.87932	D	0	-0.8614	12.7696	0.57412	1.0:0.0:0.0:0.0	.	63;27;55;49	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	A	27;27;27;49;27;55;49;73;49;27;52	ENSP00000432349:T27A;ENSP00000433556:T27A;ENSP00000432538:T27A;ENSP00000431957:T27A;ENSP00000375724:T55A;ENSP00000406162:T73A;ENSP00000437273:T49A;ENSP00000432788:T27A;ENSP00000436732:T52A	ENSP00000375724:T55A	T	+	1	0	PRMT1	54877003	1.000000	0.71417	0.962000	0.40283	0.003000	0.03518	7.047000	0.76599	2.124000	0.65301	0.523000	0.50628	ACC		0.597	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		10	27	0	0	0	0.006214	0	10	27				
FPR3	2359	broad.mit.edu	37	19	52327399	52327399	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:52327399C>A	ENST00000339223.4	+	2	577	c.398C>A	c.(397-399)gCc>gAc	p.A133D	FPR3_ENST00000595991.1_Missense_Mutation_p.A133D	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	133					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCAGCCTGGGCCCAGAACCAT	0.473																																							uc002pxt.1		NA																	0				lung(4)|breast(1)|skin(1)	6						c.(397-399)GCC>GAC		formyl peptide receptor-like 2							84.0	71.0	76.0					19																	52327399		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327399C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.398C>A	19.37:g.52327399C>A	ENSP00000341821:p.Ala133Asp						p.A133D	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	582	+			133			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.398C>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.080504	0.36662	.	.	ENSG00000187474	ENST00000339223	T	0.38722	1.12	2.34	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.344922	0.26542	N	0.023784	T	0.68568	0.3015	H	0.95816	3.725	0.30697	N	0.750749	D	0.76494	0.999	D	0.83275	0.996	T	0.67643	-0.5618	10	0.87932	D	0	.	6.594	0.22661	0.0:0.8404:0.0:0.1596	.	133	P25089	FPR3_HUMAN	D	133	ENSP00000341821:A133D	ENSP00000341821:A133D	A	+	2	0	FPR3	57019211	0.999000	0.42202	0.985000	0.45067	0.020000	0.10135	3.024000	0.49674	0.324000	0.23333	0.467000	0.42956	GCC		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		6	66	1	0	3.59834e-05	0.001168	3.88908e-05	6	66				
ZNF649	65251	broad.mit.edu	37	19	52394472	52394472	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:52394472A>G	ENST00000354957.3	-	5	1201	c.917T>C	c.(916-918)gTt>gCt	p.V306A	ZNF649_ENST00000600738.1_Missense_Mutation_p.V278A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGATGTACAACGAGTAGTGA	0.438																																							uc002pxy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(916-918)GTT>GCT		zinc finger protein 649							119.0	102.0	108.0					19																	52394472		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394472A>G	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.917T>C	19.37:g.52394472A>G	ENSP00000347043:p.Val306Ala					ZNF577_uc010ydf.1_5'Flank	p.V306A	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1185	-		all_neural(266;0.0602)	306			C2H2-type 5.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.917T>C	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	A	3.880	-0.026135	0.07589	.	.	ENSG00000198093	ENST00000354957	T	0.07021	3.23	2.38	0.0548	0.14312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.11651	0.15	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.44513	-0.9323	9	0.27082	T	0.32	.	0.2765	0.00239	0.3634:0.2006:0.2393:0.1966	.	306	Q9BS31	ZN649_HUMAN	A	306	ENSP00000347043:V306A	ENSP00000347043:V306A	V	-	2	0	ZNF649	57086284	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.839000	0.00738	0.071000	0.16664	-0.794000	0.03295	GTT		0.438	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		8	33	0	0	0	0.00308	0	8	33				
ZNF320	162967	broad.mit.edu	37	19	53384157	53384157	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:53384157T>C	ENST00000595635.1	-	8	1723	c.1222A>G	c.(1222-1224)Act>Gct	p.T408A	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.T408A|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCTCTCCAGTATGAAGTTTT	0.388																																							uc002qag.2		NA																	0					0						c.(1222-1224)ACT>GCT		zinc finger protein 320							84.0	79.0	81.0					19																	53384157		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384157T>C	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1222A>G	19.37:g.53384157T>C	ENSP00000473091:p.Thr408Ala					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.T354A|ZNF320_uc002qai.2_Missense_Mutation_p.T408A	p.T408A	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1413	-			408					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1222A>G	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	12.50	1.957929	0.34565	.	.	ENSG00000182986	ENST00000391781	T	0.26518	1.73	1.74	1.74	0.24563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23171	0.0560	L	0.46741	1.465	0.24922	N	0.991979	B	0.31837	0.342	B	0.36845	0.234	T	0.27365	-1.0076	9	0.66056	D	0.02	.	5.2262	0.15396	0.2575:0.0:0.0:0.7425	.	408	A2RRD8	ZN320_HUMAN	A	408	ENSP00000375660:T408A	ENSP00000375660:T408A	T	-	1	0	ZNF320	58075969	0.328000	0.24687	0.456000	0.27044	0.315000	0.28087	1.656000	0.37355	0.792000	0.33850	0.155000	0.16302	ACT		0.388	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		8	58	0	0	0	0.00308	0	8	58				
NLRP12	91662	broad.mit.edu	37	19	54314394	54314394	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54314394C>A	ENST00000324134.6	-	3	687	c.519G>T	c.(517-519)caG>caT	p.Q173H	NLRP12_ENST00000391775.3_Missense_Mutation_p.Q173H|NLRP12_ENST00000351894.4_Missense_Mutation_p.Q173H|NLRP12_ENST00000354278.3_Missense_Mutation_p.Q173H|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q173H|NLRP12_ENST00000535162.1_Missense_Mutation_p.Q173H|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q173H|NLRP12_ENST00000391772.1_Missense_Mutation_p.Q173H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	173					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAAGCTGCTGCTGGACCTGCA	0.627																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(517-519)CAG>CAT		NLR family, pyrin domain containing 12 isoform							75.0	66.0	69.0					19																	54314394		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314394C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.519G>T	19.37:g.54314394C>A	ENSP00000319377:p.Gln173His					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.Q173H|NLRP12_uc002qcj.3_Missense_Mutation_p.Q173H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.Q173H	p.Q173H	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	739	-	Ovarian(34;0.19)		173					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.519G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479822	0.26511	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.25	4.25	0.50352	.	0.000000	0.41001	D	0.000965	D	0.91794	0.7404	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.60160	0.987;0.974;0.987;0.974	P;P;P;P	0.56916	0.809;0.694;0.809;0.694	D	0.92624	0.6110	10	0.62326	D	0.03	.	14.5812	0.68292	0.0:1.0:0.0:0.0	.	173;173;173;173	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	173	ENSP00000319377:Q173H;ENSP00000438030:Q173H;ENSP00000340473:Q173H;ENSP00000346231:Q173H;ENSP00000375655:Q173H;ENSP00000375653:Q173H;ENSP00000375652:Q173H	ENSP00000319377:Q173H	Q	-	3	2	NLRP12	59006206	0.992000	0.36948	0.996000	0.52242	0.331000	0.28603	1.967000	0.40491	2.113000	0.64589	0.306000	0.20318	CAG		0.627	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		15	47	1	0	0.00244969	0.00245	0.00255871	15	47				
CNOT3	4849	broad.mit.edu	37	19	54649361	54649361	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54649361C>T	ENST00000406403.1	+	7	2114	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R171W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	171					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTTGAAGCGGCACATCGA	0.622																																							uc002qdj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(511-513)CGG>TGG		CCR4-NOT transcription complex, subunit 3							107.0	74.0	85.0					19																	54649361		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649361C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.511C>T	19.37:g.54649361C>T	ENSP00000383954:p.Arg171Trp					CNOT3_uc010yel.1_Missense_Mutation_p.R171W|CNOT3_uc002qdi.2_Missense_Mutation_p.R84W|CNOT3_uc002qdk.1_Missense_Mutation_p.R171W|CNOT3_uc010ere.1_RNA	p.R171W	NM_014516	NP_055331	O75175	CNOT3_HUMAN			8	822	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		171					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.511C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676893	0.67928	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.47869	0.83;0.83	4.73	3.66	0.41972	Not CCR4-Not complex component, N-terminal (1);	0.122032	0.51477	D	0.000081	T	0.66287	0.2774	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.70479	-0.4860	10	0.66056	D	0.02	-28.8011	13.6447	0.62275	0.157:0.843:0.0:0.0	.	171;171;95	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	171	ENSP00000221232:R171W;ENSP00000383954:R171W	ENSP00000221232:R171W	R	+	1	2	CNOT3	59341173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.900000	0.28431	1.264000	0.44198	0.609000	0.83330	CGG		0.622	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		11	27	0	0	0	0.000978	0	11	27				
LILRB5	10990	broad.mit.edu	37	19	54757905	54757905	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54757905G>A	ENST00000316219.5	-	8	1437	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P445S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P345S|LILRB5_ENST00000450632.1_Missense_Mutation_p.P436S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	444					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACCCCGTGGGGGTGAGGGGC	0.701																																							uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1330-1332)CCC>TCC		leukocyte immunoglobulin-like receptor,							20.0	22.0	21.0					19																	54757905		2197	4292	6489	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54757905G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1330C>T	19.37:g.54757905G>A	ENSP00000320390:p.Pro444Ser					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P436S|LILRB5_uc002qey.2_Missense_Mutation_p.P445S|LILRB5_uc002qez.2_Missense_Mutation_p.P345S|LILRB5_uc002qfa.1_3'UTR	p.P444S	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1441	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		444			Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1330C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112112	0.20795	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00487	7.12;7.06;7.12;7.05	1.7	-0.83	0.10792	.	.	.	.	.	T	0.00384	0.0012	M	0.64567	1.98	0.09310	N	1	B;B;B;B	0.31680	0.067;0.203;0.335;0.013	B;B;B;B	0.31686	0.023;0.103;0.134;0.01	T	0.35450	-0.9788	9	0.32370	T	0.25	.	2.8679	0.05607	0.2023:0.2989:0.4988:0.0	.	436;345;445;444	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	444;436;445;345	ENSP00000320390:P444S;ENSP00000414225:P436S;ENSP00000406478:P445S;ENSP00000263430:P345S	ENSP00000320390:P444S	P	-	1	0	LILRB5	59449717	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.298000	0.08265	-0.128000	0.11641	0.430000	0.28490	CCC		0.701	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	3	0	0	0	0.000602	0	4	3				
LILRA3	11026	broad.mit.edu	37	19	54802050	54802050	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54802050C>A	ENST00000251390.3	-	6	1229	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S	LILRA3_ENST00000391745.1_Missense_Mutation_p.A397S|LILRA3_ENST00000391744.3_Missense_Mutation_p.A316S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	380	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGAATTCAGCCTGGTACTTA	0.572																																							uc002qfd.2		NA																	0				ovary(1)	1						c.(1138-1140)GCT>TCT		leukocyte immunoglobulin-like receptor,							131.0	117.0	122.0					19																	54802050		2193	4180	6373	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802050C>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1138G>T	19.37:g.54802050C>A	ENSP00000251390:p.Ala380Ser					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.A316S	p.A380S	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1203	-	Ovarian(34;0.19)		380			Ig-like C2-type 4.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1138G>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806917	0.50421	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.02631	4.22;4.22;4.22	3.07	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.184904	0.25925	N	0.027412	T	0.17619	0.0423	M	0.92169	3.28	0.19300	N	0.999972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.02345	-1.1173	10	0.56958	D	0.05	.	9.7532	0.40487	0.0:1.0:0.0:0.0	.	380;380	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	380;316;397	ENSP00000251390:A380S;ENSP00000375624:A316S;ENSP00000375625:A397S	ENSP00000251390:A380S	A	-	1	0	LILRA3	59493862	0.000000	0.05858	0.182000	0.23118	0.023000	0.10783	-0.232000	0.09055	1.748000	0.51833	0.591000	0.81541	GCT		0.572	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			35	132	1	0	2.47316e-13	0.003271	3.0613e-13	35	132				
NLRP2	55655	broad.mit.edu	37	19	55494830	55494830	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:55494830C>T	ENST00000543010.1	+	6	1907	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	NLRP2_ENST00000537859.1_Silent_p.C566C|NLRP2_ENST00000339757.7_Silent_p.C566C|NLRP2_ENST00000391721.4_Silent_p.C564C|NLRP2_ENST00000448584.2_Silent_p.C588C|NLRP2_ENST00000263437.6_Silent_p.C585C|NLRP2_ENST00000538819.1_Silent_p.C564C|NLRP2_ENST00000427260.2_Silent_p.C565C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	588					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCTGCGATGCGACATAAGTT	0.547																																							uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(1762-1764)TGC>TGT		NLR family, pyrin domain containing 2							104.0	90.0	95.0					19																	55494830		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494830C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1764C>T	19.37:g.55494830C>T						NLRP2_uc010yfp.1_Silent_p.C565C|NLRP2_uc010esn.2_Silent_p.C564C|NLRP2_uc010eso.2_Silent_p.C585C|NLRP2_uc010esp.2_Silent_p.C566C	p.C588C	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1850	+			588					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1764C>T	CCDS12913.1																																																																																				0.547	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		11	42	0	0	0	0.008291	0	11	42				
TNNT1	7138	broad.mit.edu	37	19	55656924	55656924	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:55656924C>T	ENST00000588981.1	-	6	320	c.116G>A	c.(115-117)cGc>cAc	p.R39H	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000291901.8_Missense_Mutation_p.R39H|TNNT1_ENST00000356783.5_Missense_Mutation_p.R28H|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587758.1_Missense_Mutation_p.R28H|TNNT1_ENST00000585321.2_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	39					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TGGTTTGGGGCGTTCCTCTTC	0.542																																							uc002qjb.3		NA																	0				ovary(1)	1						c.(115-117)CGC>CAC		troponin T1, skeletal, slow isoform a							163.0	169.0	167.0					19																	55656924		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55656924C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.116G>A	19.37:g.55656924C>T	ENSP00000467176:p.Arg39His					TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.R39H|TNNT1_uc002qje.3_Missense_Mutation_p.R28H|TNNT1_uc002qjd.3_Missense_Mutation_p.R28H|TNNT1_uc002qjf.2_Missense_Mutation_p.R35H	p.R39H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	6	205	-			39					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.116G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289851	0.59976	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000429737	D;D	0.98822	-5.16;-5.16	3.72	3.72	0.42706	.	0.532644	0.16444	N	0.214174	D	0.98429	0.9477	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.74674	0.964;0.984;0.984;0.964	D	0.98667	1.0686	10	0.87932	D	0	-10.4465	13.8205	0.63318	0.0:1.0:0.0:0.0	.	39;28;39;39	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	H	39;28;54	ENSP00000291901:R39H;ENSP00000349233:R28H	ENSP00000291901:R39H	R	-	2	0	TNNT1	60348736	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.650000	0.61440	2.006000	0.58801	0.590000	0.80494	CGC		0.542	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		46	132	0	0	0	0.00361	0	46	132				
NLRP11	204801	broad.mit.edu	37	19	56303748	56303748	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:56303748C>A	ENST00000589093.1	-	7	2525	c.2432G>T	c.(2431-2433)tGt>tTt	p.C811F	NLRP11_ENST00000360133.3_Missense_Mutation_p.C757F|NLRP11_ENST00000592953.1_Missense_Mutation_p.C712F|NLRP11_ENST00000589824.2_Missense_Mutation_p.C757F|NLRP11_ENST00000443188.1_Missense_Mutation_p.C811F			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	811							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCGATTCACACACAGGTCTAG	0.468																																							uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2431-2433)TGT>TTT		NLR family, pyrin domain containing 11							182.0	163.0	169.0					19																	56303748		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56303748C>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2432G>T	19.37:g.56303748C>A	ENSP00000466285:p.Cys811Phe					NLRP11_uc002qlz.2_Missense_Mutation_p.C658F|NLRP11_uc002qmb.2_Missense_Mutation_p.C712F|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.C811F	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3143	-		Colorectal(82;0.0002)	811			LRR 4.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2432G>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442378	0.12164	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.52526	0.66;0.66	2.18	1.09	0.20402	.	.	.	.	.	T	0.39733	0.1089	N	0.14661	0.345	0.09310	N	1	B;D	0.52996	0.033;0.957	B;P	0.54706	0.005;0.759	T	0.20207	-1.0282	9	0.59425	D	0.04	.	6.6168	0.22780	0.0:0.6987:0.3013:0.0	.	811;757	P59045;P59045-2	NAL11_HUMAN;.	F	811;757	ENSP00000409898:C811F;ENSP00000353251:C757F	ENSP00000353251:C757F	C	-	2	0	NLRP11	60995560	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.136000	0.15974	0.453000	0.26858	-0.182000	0.12963	TGT		0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		22	67	1	0	0.000229342	0.001882	0.000244474	22	67				
ZNF543	125919	broad.mit.edu	37	19	57840569	57840569	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:57840569A>G	ENST00000321545.4	+	4	2084	c.1739A>G	c.(1738-1740)aAc>aGc	p.N580S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTTCAGTCAACATCCAGGAA	0.418																																							uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						c.(1738-1740)AAC>AGC		zinc finger protein 543							75.0	73.0	74.0					19																	57840569		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840569A>G	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1739A>G	19.37:g.57840569A>G	ENSP00000322545:p.Asn580Ser						p.N580S	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	2084	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	580					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1739A>G	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.941267	0.00479	.	.	ENSG00000178229	ENST00000321545	T	0.06068	3.35	2.57	-5.14	0.02875	.	.	.	.	.	T	0.02267	0.0070	N	0.11818	0.18	0.09310	N	1	B	0.22146	0.065	B	0.14578	0.011	T	0.30707	-0.9969	9	0.07644	T	0.81	.	2.1614	0.03826	0.1938:0.3527:0.2806:0.1729	.	580	Q08ER8	ZN543_HUMAN	S	580	ENSP00000322545:N580S	ENSP00000322545:N580S	N	+	2	0	ZNF543	62532381	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.526000	0.00441	-4.293000	0.00058	-1.965000	0.00470	AAC		0.418	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		17	70	0	0	0	0.004007	0	17	70				
ZSCAN4	201516	broad.mit.edu	37	19	58187749	58187749	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:58187749G>A	ENST00000318203.5	+	3	933	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAAAGCACAGCAAGGATGAA	0.403																																							uc002qpu.2		NA																	0				ovary(1)	1						c.(235-237)AGC>AAC		zinc finger and SCAN domain containing 4							93.0	90.0	91.0					19																	58187749		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187749G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.236G>A	19.37:g.58187749G>A	ENSP00000321963:p.Ser79Asn						p.S79N	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	933	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	79			SCAN box.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.236G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195344	0.78902	.	.	ENSG00000180532	ENST00000318203	T	0.08634	3.07	4.95	3.84	0.44239	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.103411	0.43919	D	0.000506	T	0.33265	0.0857	M	0.90977	3.165	0.25104	N	0.990762	D	0.89917	1.0	D	0.91635	0.999	T	0.11991	-1.0565	10	0.72032	D	0.01	-28.7423	10.7823	0.46384	0.0:0.1917:0.8083:0.0	.	79	Q8NAM6	ZSCA4_HUMAN	N	79	ENSP00000321963:S79N	ENSP00000321963:S79N	S	+	2	0	ZSCAN4	62879561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.823000	0.27366	2.745000	0.94114	0.655000	0.94253	AGC		0.403	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		26	53	0	0	0	0.005443	0	26	53				
RSAD2	91543	broad.mit.edu	37	2	7036001	7036001	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:7036001T>C	ENST00000382040.3	+	6	1150	c.1014T>C	c.(1012-1014)ttT>ttC	p.F338F	RSAD2_ENST00000541728.1_Silent_p.F231F	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TCAGTGGATTTGATGAAAAGA	0.433																																							uc002qyp.1		NA																	0					0						c.(1012-1014)TTT>TTC		radical S-adenosyl methionine domain containing							87.0	83.0	85.0					2																	7036001		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7036001T>C	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.1014T>C	2.37:g.7036001T>C							p.F338F	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	6	1150	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		338						Silent	SNP	ENST00000382040.3	37	c.1014T>C	CCDS1656.1																																																																																				0.433	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		12	59	0	0	0	0.000978	0	12	59				
ODC1	4953	broad.mit.edu	37	2	10584717	10584717	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:10584717C>T	ENST00000234111.4	-	4	669	c.159G>A	c.(157-159)ctG>ctA	p.L53L	ODC1_ENST00000405333.1_Silent_p.L53L|SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000446285.1_Intron	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	53					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TTAACCACCTCAGATGTTTCT	0.483																																							uc010exg.1		NA																	0				ovary(1)	1						c.(157-159)CTG>CTA		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						91.0	90.0	90.0					2																	10584717		2203	4300	6503	SO:0001819	synonymous_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10584717C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.159G>A	2.37:g.10584717C>T						ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.L53L|ODC1_uc010yjd.1_Intron	p.L53L	NM_002539	NP_002530	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	4	593	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		53					Q53TU3|Q6LDS9	Silent	SNP	ENST00000234111.4	37	c.159G>A	CCDS1672.1																																																																																				0.483	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			19	57	0	0	0	0.006122	0	19	57				
NOL10	79954	broad.mit.edu	37	2	10717815	10717815	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:10717815T>C	ENST00000381685.5	-	20	1999	c.1894A>G	c.(1894-1896)Agt>Ggt	p.S632G	NOL10_ENST00000345985.3_Missense_Mutation_p.S582G|NOL10_ENST00000538384.1_Missense_Mutation_p.S606G|NOL10_ENST00000542668.1_Missense_Mutation_p.S582G	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	632						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCGGATACACTCAATGTCCCA	0.318																																							uc002raq.2		NA																	0					0						c.(1894-1896)AGT>GGT		nucleolar protein 10							159.0	135.0	143.0					2																	10717815		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10717815T>C	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1894A>G	2.37:g.10717815T>C	ENSP00000371101:p.Ser632Gly					NOL10_uc010yje.1_Missense_Mutation_p.S606G|NOL10_uc010yjf.1_Missense_Mutation_p.S582G|NOL10_uc002rap.2_Missense_Mutation_p.S582G	p.S632G	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	2019	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		632					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1894A>G	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.585425	0.46110	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.44083	0.93;2.13;1.51;2.13	5.99	5.99	0.97316	.	0.451885	0.28772	N	0.014191	T	0.33962	0.0881	L	0.29908	0.895	0.35263	D	0.779791	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32877	-0.9890	10	0.28530	T	0.3	-0.2116	16.4943	0.84223	0.0:0.0:0.0:1.0	.	606;632;582	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	G	582;632;582;606	ENSP00000263837:S582G;ENSP00000371101:S632G;ENSP00000437625:S582G;ENSP00000439663:S606G	ENSP00000263837:S582G	S	-	1	0	NOL10	10635266	1.000000	0.71417	0.914000	0.36105	0.920000	0.55202	4.160000	0.58164	2.291000	0.77112	0.533000	0.62120	AGT		0.318	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		5	14	0	0	0	0.001984	0	5	14				
GREB1	9687	broad.mit.edu	37	2	11735467	11735467	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:11735467T>C	ENST00000381486.2	+	12	2087	c.1787T>C	c.(1786-1788)gTa>gCa	p.V596A	GREB1_ENST00000234142.5_Missense_Mutation_p.V596A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	596						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGGAAGGTAGACTCGCTG	0.532																																					Ovarian(39;850 945 2785 23371 33093)	Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(1786-1788)GTA>GCA		growth regulation by estrogen in breast cancer 1							73.0	74.0	74.0					2																	11735467		1900	4112	6012	SO:0001583	missense	9687					integral to membrane		g.chr2:11735467T>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1787T>C	2.37:g.11735467T>C	ENSP00000370896:p.Val596Ala					GREB1_uc002rbo.1_Missense_Mutation_p.V230A	p.V596A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	12	2087	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		596					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1787T>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.708130	0.48412	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.49432	3.06;3.06;0.78	5.07	5.07	0.68467	.	0.236279	0.35495	N	0.003165	T	0.44932	0.1317	M	0.65975	2.015	0.31900	N	0.616138	B;P	0.51791	0.005;0.948	B;B	0.40901	0.009;0.343	T	0.62647	-0.6810	10	0.52906	T	0.07	-1.9063	10.3739	0.44071	0.0:0.0779:0.0:0.9221	.	230;596	C9JIG0;Q4ZG55	.;GREB1_HUMAN	A	596;596;230	ENSP00000370896:V596A;ENSP00000234142:V596A;ENSP00000403886:V230A	ENSP00000234142:V596A	V	+	2	0	GREB1	11652918	1.000000	0.71417	0.975000	0.42487	0.713000	0.41058	3.422000	0.52749	2.020000	0.59435	0.456000	0.33151	GTA		0.532	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		8	59	0	0	0	0.008291	0	8	59				
NBAS	51594	broad.mit.edu	37	2	15468400	15468400	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:15468400T>C	ENST00000281513.5	-	37	4409	c.4384A>G	c.(4384-4386)Aca>Gca	p.T1462A	NBAS_ENST00000441750.1_Missense_Mutation_p.T1342A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1462					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTGGCTGTAGTTCCGATT	0.398																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(4384-4386)ACA>GCA		neuroblastoma-amplified protein							196.0	176.0	183.0					2																	15468400		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15468400T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4384A>G	2.37:g.15468400T>C	ENSP00000281513:p.Thr1462Ala					NBAS_uc010exl.1_Missense_Mutation_p.T534A|NBAS_uc002rcd.1_RNA	p.T1462A	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			37	4410	-			1462					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4384A>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	2.098	-0.406872	0.04832	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09817	2.94;3.11	5.45	-1.52	0.08637	.	1.572250	0.02841	N	0.127922	T	0.09335	0.0230	N	0.19112	0.55	0.09310	N	1	P;B	0.35612	0.512;0.003	B;B	0.32022	0.139;0.005	T	0.45308	-0.9270	10	0.87932	D	0	.	13.5798	0.61896	0.0:0.8172:0.0:0.1828	.	1342;1462	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	A	1342;1462	ENSP00000413201:T1342A;ENSP00000281513:T1462A	ENSP00000281513:T1462A	T	-	1	0	NBAS	15385851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.081000	0.11321	-0.549000	0.06191	-0.256000	0.11100	ACA		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		33	196	0	0	0	0.00623	0	33	196				
APOB	338	broad.mit.edu	37	2	21229034	21229034	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:21229034T>G	ENST00000233242.1	-	26	10833	c.10706A>C	c.(10705-10707)aAc>aCc	p.N3569T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3569					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTAAGTGGTTTTTCGTACT	0.448																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CD084831	APOB	D		c.(10705-10707)AAC>ACC		apolipoprotein B precursor	Atorvastatin(DB01076)						72.0	71.0	71.0					2																	21229034		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229034T>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10706A>C	2.37:g.21229034T>G	ENSP00000233242:p.Asn3569Thr						p.N3569T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10834	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3569					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10706A>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973157	0.53614	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.71222	-0.55	5.85	5.85	0.93711	.	0.089066	0.47852	D	0.000212	D	0.84379	0.5459	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86378	0.1727	10	0.87932	D	0	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	3569	P04114	APOB_HUMAN	T	3569	ENSP00000233242:N3569T	ENSP00000233242:N3569T	N	-	2	0	APOB	21082539	1.000000	0.71417	0.300000	0.25030	0.102000	0.19082	7.799000	0.85936	2.234000	0.73211	0.533000	0.62120	AAC		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			15	58	0	0	0	0.003163	0	15	58				
HADHB	3032	broad.mit.edu	37	2	26486254	26486254	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:26486254A>T	ENST00000317799.5	+	4	220	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	HADHB_ENST00000537713.1_Missense_Mutation_p.Q39L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.Q17L|HADHB_ENST00000405867.3_Missense_Mutation_p.Q39L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	39					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCTGTCCAGACCAAAACG	0.333																																							uc002rgz.2		NA																	0				ovary(1)|breast(1)	2						c.(115-117)CAG>CTG		mitochondrial trifunctional protein, beta							121.0	111.0	114.0					2																	26486254		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26486254A>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.116A>T	2.37:g.26486254A>T	ENSP00000325136:p.Gln39Leu					HADHB_uc010yku.1_RNA|HADHB_uc010ykv.1_Missense_Mutation_p.Q17L|HADHB_uc010ykw.1_Missense_Mutation_p.Q39L|HADHB_uc002rha.2_Missense_Mutation_p.Q39L	p.Q39L	NM_000183	NP_000174	P55084	ECHB_HUMAN			4	367	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		39					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.116A>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181155	0.57800	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035;ENST00000412805	D;D;D;D;D;D;D	0.97430	-3.87;-3.18;-3.33;-3.17;-3.15;-4.38;-2.24	5.73	5.73	0.89815	.	0.055773	0.64402	D	0.000001	D	0.92338	0.7569	N	0.08118	0	0.50632	D	0.999888	B;B;B;B	0.25955	0.008;0.003;0.138;0.002	B;B;B;B	0.30646	0.005;0.003;0.118;0.002	D	0.90117	0.4196	10	0.40728	T	0.16	-7.4574	13.971	0.64240	1.0:0.0:0.0:0.0	.	39;17;39;39	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	39;39;39;39;17;39;39	ENSP00000415300:Q39L;ENSP00000325136:Q39L;ENSP00000385411:Q39L;ENSP00000444295:Q39L;ENSP00000442665:Q17L;ENSP00000404633:Q39L;ENSP00000413103:Q39L	ENSP00000325136:Q39L	Q	+	2	0	HADHB	26339758	1.000000	0.71417	0.981000	0.43875	0.932000	0.56968	6.059000	0.71133	2.183000	0.69458	0.528000	0.53228	CAG		0.333	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		17	61	0	0	0	0.00499	0	17	61				
DNAJC5G	285126	broad.mit.edu	37	2	27501077	27501077	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:27501077C>G	ENST00000296097.3	+	5	815	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.L117V|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L133V|DNAJC5G_ENST00000406962.1_Silent_p.L45L|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	133	Cys-rich.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGTACTCTGCTCACttg	0.473																																							uc002rjl.1		NA																	0				skin(1)	1						c.(397-399)CTG>GTG		DnaJ (Hsp40) homolog, subfamily C, member 5							244.0	169.0	195.0					2																	27501077		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27501077C>G	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.397C>G	2.37:g.27501077C>G	ENSP00000296097:p.Leu133Val					SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.L45L|DNAJC5G_uc002rjm.1_Missense_Mutation_p.L133V	p.L133V	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			5	815	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		133			Cys-rich.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.397C>G	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610442	0.28712	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.73258	-0.73;-0.73;-0.73	5.47	3.62	0.41486	.	0.589219	0.12931	N	0.427370	T	0.61540	0.2355	L	0.33093	0.98	0.80722	D	1	P	0.48503	0.911	P	0.46299	0.511	T	0.49818	-0.8899	10	0.25106	T	0.35	.	7.9089	0.29778	0.0:0.7516:0.1607:0.0877	.	133	Q8N7S2	DNJ5G_HUMAN	V	133;133;117	ENSP00000296097:L133V;ENSP00000384305:L133V;ENSP00000385829:L117V	ENSP00000296097:L133V	L	+	1	2	DNAJC5G	27354581	0.004000	0.15560	0.830000	0.32933	0.157000	0.22087	0.182000	0.16900	0.631000	0.30412	0.609000	0.83330	CTG		0.473	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		22	37	0	0	0	0.001882	0	22	37				
C2orf16	84226	broad.mit.edu	37	2	27801984	27801984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:27801984C>T	ENST00000408964.2	+	1	2596	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	849						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGGAGATCACGATCTAGGAC	0.473																																							uc002rkz.3		NA																	0				large_intestine(1)	1						c.(2545-2547)CGA>TGA		hypothetical protein LOC84226							60.0	62.0	62.0					2																	27801984		1991	4200	6191	SO:0001587	stop_gained	84226							g.chr2:27801984C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2545C>T	2.37:g.27801984C>T	ENSP00000386190:p.Arg849*						p.R849*	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2596	+	Acute lymphoblastic leukemia(172;0.155)		849					B9EIQ4|Q53S01|Q8ND64|Q9H088	Nonsense_Mutation	SNP	ENST00000408964.2	37	c.2545C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	37	6.503805	0.97620	.	.	ENSG00000221843	ENST00000408964	.	.	.	5.02	-0.543	0.11851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	0.8028	0.01078	0.1494:0.3317:0.2223:0.2966	.	.	.	.	X	849	.	ENSP00000386190:R849X	R	+	1	2	C2orf16	27655488	0.002000	0.14202	0.260000	0.24451	0.393000	0.30537	-0.103000	0.10940	0.176000	0.19873	0.591000	0.81541	CGA		0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		26	55	0	0	0	0.003954	0	26	55				
XDH	7498	broad.mit.edu	37	2	31600099	31600099	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:31600099T>C	ENST00000379416.3	-	14	1295	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	416					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGAGAAATACTCCCCCTAAAA	0.517																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1246-1248)GAG>GGG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						97.0	94.0	95.0					2																	31600099		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31600099T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1247A>G	2.37:g.31600099T>C	ENSP00000368727:p.Glu416Gly						p.E416G	NM_000379	NP_000370	P47989	XDH_HUMAN			14	1326	-	Acute lymphoblastic leukemia(172;0.155)		416					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1247A>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228463	0.79576	.	.	ENSG00000158125	ENST00000379416	T	0.27720	1.65	5.7	5.7	0.88788	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (2);	0.046724	0.85682	D	0.000000	T	0.55609	0.1931	M	0.81802	2.56	0.80722	D	1	D	0.58620	0.983	P	0.61132	0.884	T	0.61874	-0.6973	10	0.87932	D	0	.	15.6499	0.77084	0.0:0.0:0.0:1.0	.	416	P47989	XDH_HUMAN	G	416	ENSP00000368727:E416G	ENSP00000368727:E416G	E	-	2	0	XDH	31453603	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	6.164000	0.71885	2.172000	0.68678	0.533000	0.62120	GAG		0.517	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		18	64	0	0	0	0.007413	0	18	64				
XDH	7498	broad.mit.edu	37	2	31621554	31621554	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:31621554G>T	ENST00000379416.3	-	5	366	c.318C>A	c.(316-318)gcC>gcA	p.A106A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CGTGGCTTTTGGCAATTCTCT	0.557																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(316-318)GCC>GCA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						94.0	101.0	99.0					2																	31621554		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621554G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.318C>A	2.37:g.31621554G>T							p.A106A	NM_000379	NP_000370	P47989	XDH_HUMAN			5	397	-	Acute lymphoblastic leukemia(172;0.155)		106					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.318C>A	CCDS1775.1																																																																																				0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		27	124	1	0	3.65163e-15	0.00632	4.58388e-15	27	124				
GALM	130589	broad.mit.edu	37	2	38960634	38960634	+	Missense_Mutation	SNP	G	G	A	rs116100345		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:38960634G>A	ENST00000272252.5	+	7	1208	c.956G>A	c.(955-957)cGc>cAc	p.R319H	GALM_ENST00000410063.1_Missense_Mutation_p.R171H	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	319					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCACAGCCCCGCTTCCCTCCT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.0						uc002rqy.2		NA																	0					0						c.(955-957)CGC>CAC		galactose mutarotase		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	195.0	180.0	185.0		956	4.0	1.0	2	dbSNP_132	185	0,8600		0,0,4300	yes	missense	GALM	NM_138801.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	319/343	38960634	2,13004	2203	4300	6503	SO:0001583	missense	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38960634G>A		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.956G>A	2.37:g.38960634G>A	ENSP00000272252:p.Arg319His						p.R319H	NM_138801	NP_620156	Q96C23	GALM_HUMAN			7	1208	+		all_hematologic(82;0.248)	319					Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	c.956G>A	CCDS1797.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.834	0.155126	0.09236	4.54E-4	0.0	ENSG00000143891	ENST00000272252;ENST00000410063	T;T	0.41065	1.02;1.01	5.17	4.02	0.46733	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.499535	0.23286	N	0.049841	T	0.11623	0.0283	N	0.00275	-1.725	0.21579	N	0.999636	B	0.02656	0.0	B	0.01281	0.0	T	0.22173	-1.0224	10	0.20519	T	0.43	-4.4582	10.5962	0.45338	0.9237:0.0:0.0763:0.0	.	319	Q96C23	GALM_HUMAN	H	319;171	ENSP00000272252:R319H;ENSP00000386233:R171H	ENSP00000272252:R319H	R	+	2	0	GALM	38814138	0.999000	0.42202	1.000000	0.80357	0.619000	0.37552	2.856000	0.48341	1.000000	0.39049	-0.238000	0.12139	CGC		0.532	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		33	130	0	0	0	0.004289	0	33	130				
THADA	63892	broad.mit.edu	37	2	43779453	43779453	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:43779453A>G	ENST00000405006.4	-	18	3051	c.2700T>C	c.(2698-2700)ctT>ctC	p.L900L	THADA_ENST00000415080.2_Silent_p.L610L|THADA_ENST00000330266.7_Silent_p.L610L|THADA_ENST00000405975.2_Silent_p.L900L|THADA_ENST00000402360.2_Silent_p.L900L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	900										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTCTTCCTCAAGATTTTCCA	0.368																																							uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(2698-2700)CTT>CTC		thyroid adenoma associated							44.0	43.0	43.0					2																	43779453		1846	4112	5958	SO:0001819	synonymous_variant	63892						binding	g.chr2:43779453A>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2700T>C	2.37:g.43779453A>G						THADA_uc010far.2_Silent_p.L169L|THADA_uc002rsx.3_Silent_p.L900L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L610L|THADA_uc010fat.1_Silent_p.L48L|THADA_uc002rta.2_Silent_p.L610L|THADA_uc002rtb.1_Silent_p.L900L	p.L900L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			18	3052	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	900			Potential.		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.2700T>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	6.991	0.552890	0.13374	.	.	ENSG00000115970	ENST00000407351	T	0.33216	1.42	5.86	-1.39	0.08997	.	0.072524	0.56097	D	0.000028	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17561	-1.0365	7	0.87932	D	0	-19.4494	5.7766	0.18283	0.3894:0.442:0.0616:0.107	.	.	.	.	S	214	ENSP00000386112:L214S	ENSP00000386112:L214S	L	-	2	0	THADA	43632957	0.991000	0.36638	0.997000	0.53966	0.622000	0.37654	0.300000	0.19156	-0.128000	0.11641	0.482000	0.46254	TTG		0.368	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	27	0	0	0	0.00308	0	7	27				
THADA	63892	broad.mit.edu	37	2	43793906	43793906	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:43793906A>G	ENST00000405006.4	-	15	2593	c.2242T>C	c.(2242-2244)Tcc>Ccc	p.S748P	THADA_ENST00000415080.2_Missense_Mutation_p.S458P|THADA_ENST00000330266.7_Missense_Mutation_p.S458P|THADA_ENST00000405975.2_Missense_Mutation_p.S748P|THADA_ENST00000404790.1_Missense_Mutation_p.S748P|THADA_ENST00000403856.1_Missense_Mutation_p.S748P|THADA_ENST00000402360.2_Missense_Mutation_p.S748P	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	748										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTCGAGTAGGAAGATCCAGGA	0.303																																							uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(2242-2244)TCC>CCC		thyroid adenoma associated							55.0	49.0	51.0					2																	43793906		1821	4071	5892	SO:0001583	missense	63892						binding	g.chr2:43793906A>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2242T>C	2.37:g.43793906A>G	ENSP00000385995:p.Ser748Pro					THADA_uc010far.2_Missense_Mutation_p.S17P|THADA_uc002rsx.3_Missense_Mutation_p.S748P|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S458P|THADA_uc010fat.1_Missense_Mutation_p.S17P|THADA_uc002rta.2_Missense_Mutation_p.S458P|THADA_uc002rtb.1_Missense_Mutation_p.S748P|THADA_uc002rtc.3_Missense_Mutation_p.S748P|THADA_uc002rtd.2_Missense_Mutation_p.S748P	p.S748P	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			15	2594	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	748					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2242T>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360801	0.82353	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.28;-0.28;1.3	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.73598	2.24	0.50039	D	0.999844	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.996;0.996;0.996	D	0.83404	0.0024	10	0.62326	D	0.03	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	749;748;748;748;458;748	B6ZDQ0;B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;.;THADA_HUMAN	P	458;748;749;458;748;748;748;748	ENSP00000331105:S458P;ENSP00000386088:S748P;ENSP00000416048:S458P;ENSP00000385995:S748P;ENSP00000385441:S748P;ENSP00000384266:S748P;ENSP00000385469:S748P	ENSP00000331105:S458P	S	-	1	0	THADA	43647410	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.754000	0.74909	2.333000	0.79357	0.482000	0.46254	TCC		0.303	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		4	12	0	0	0	0.009096	0	4	12				
ABCG5	64240	broad.mit.edu	37	2	44050063	44050063	+	Nonsense_Mutation	SNP	G	G	A	rs199689137		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:44050063G>A	ENST00000260645.1	-	10	1475	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ABCG5_ENST00000405322.1_Nonsense_Mutation_p.R275*|ABCG5_ENST00000543989.1_Nonsense_Mutation_p.R51*	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	446	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGACAGCTCGCAGCACGGGA	0.582																																							uc002rtn.2		NA																	0				ovary(1)|skin(1)	2	GRCh37	CM074665	ABCG5	M		c.(1336-1338)CGA>TGA		ATP-binding cassette sub-family G member 5			stop/ARG	0,4406		0,0,2203	68.0	47.0	54.0		1336	3.0	0.9	2		54	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ABCG5	NM_022436.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		446/652	44050063	1,13005	2203	4300	6503	SO:0001587	stop_gained	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44050063G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1336C>T	2.37:g.44050063G>A	ENSP00000260645:p.Arg446*					ABCG5_uc002rtm.2_Nonsense_Mutation_p.R51*|ABCG5_uc002rto.2_Nonsense_Mutation_p.R275*|ABCG5_uc002rtp.2_Nonsense_Mutation_p.R51*	p.R446*	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			10	1476	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	446			ABC transmembrane type-2.|Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Nonsense_Mutation	SNP	ENST00000260645.1	37	c.1336C>T	CCDS1814.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	43	10.409416	0.99400	0.0	1.16E-4	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	.	.	.	4.9	3.04	0.35103	.	0.305862	0.36303	N	0.002676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2372	0.37473	0.0775:0.0:0.7741:0.1484	.	.	.	.	X	446;275;51	.	ENSP00000260645:R446X	R	-	1	2	ABCG5	43903567	1.000000	0.71417	0.923000	0.36655	0.185000	0.23345	4.968000	0.63728	0.597000	0.29811	0.558000	0.71614	CGA		0.582	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		4	23	0	0	0	0.009096	0	4	23				
SPRED2	200734	broad.mit.edu	37	2	65541245	65541245	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:65541245C>T	ENST00000356388.4	-	6	836	c.647G>A	c.(646-648)cGc>cAc	p.R216H	SPRED2_ENST00000443619.2_Missense_Mutation_p.R213H|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	216	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGGGTTGATGCGCACGATCTC	0.637																																							uc002sdr.3		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(646-648)CGC>CAC		sprouty-related protein with EVH-1 domain 2							47.0	45.0	46.0					2																	65541245		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541245C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.647G>A	2.37:g.65541245C>T	ENSP00000348753:p.Arg216His					SPRED2_uc010fcw.2_Missense_Mutation_p.R213H	p.R216H	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			6	1182	-			216			KBD.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.647G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.932371	0.92389	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.79454	-1.25;-1.27;-1.27;-0.36	5.31	4.43	0.53597	c-Kit-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86594	0.5970	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.87589	0.2489	10	0.62326	D	0.03	-22.3985	14.0328	0.64627	0.0:0.927:0.0:0.073	.	213;216	E9PEP0;Q7Z698	.;SPRE2_HUMAN	H	216;213;231;98	ENSP00000348753:R216H;ENSP00000393697:R213H;ENSP00000390595:R231H;ENSP00000407627:R98H	ENSP00000348753:R216H	R	-	2	0	SPRED2	65394749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	1.247000	0.43917	0.586000	0.80456	CGC		0.637	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			6	39	0	0	0	0.001168	0	6	39				
PNO1	56902	broad.mit.edu	37	2	68389725	68389725	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:68389725G>A	ENST00000263657.2	+	5	641	c.550G>A	c.(550-552)Gct>Act	p.A184T	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	184	KH.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AGGAAGAATCGCTGGCAAAGG	0.418																																					NSCLC(83;642 1410 13044 32832 40058)	NSCLC(83;642 1410 13044 32832 40058)	uc002seh.2		NA																	0					0						c.(550-552)GCT>ACT		partner of NOB1							94.0	90.0	91.0					2																	68389725		2203	4300	6503	SO:0001583	missense	56902					nucleolus	RNA binding	g.chr2:68389725G>A	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.550G>A	2.37:g.68389725G>A	ENSP00000263657:p.Ala184Thr						p.A184T	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN			5	612	+			184			KH.		A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	c.550G>A	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049338	0.93740	.	.	ENSG00000115946	ENST00000263657	T	0.29142	1.58	5.75	3.92	0.45320	K Homology (1);K Homology, type 1, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71748	-0.4499	10	0.72032	D	0.01	-2.3091	11.5842	0.50908	0.0672:0.1249:0.8079:0.0	.	184	Q9NRX1	PNO1_HUMAN	T	184	ENSP00000263657:A184T	ENSP00000263657:A184T	A	+	1	0	PNO1	68243229	1.000000	0.71417	0.701000	0.30321	0.969000	0.65631	9.560000	0.98139	0.746000	0.32786	0.650000	0.86243	GCT		0.418	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		12	65	0	0	0	0.001368	0	12	65				
ATP6V1B1	525	broad.mit.edu	37	2	71191570	71191570	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:71191570C>A	ENST00000234396.4	+	12	1219	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	ATP6V1B1_ENST00000412314.1_Silent_p.I365I|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	382					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCCTCAGATCTACCCCCCCA	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002shj.2		NA																	0				skin(1)	1						c.(1144-1146)ATC>ATA		ATPase, H+ transporting, lysosomal 56/58kDa, V1							94.0	89.0	91.0					2																	71191570		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191570C>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1146C>A	2.37:g.71191570C>A			OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ATP6V1B1_uc010fdv.2_Silent_p.I365I|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.I340I	p.I382I	NM_001692	NP_001683	P15313	VATB1_HUMAN			12	1233	+			382					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.1146C>A	CCDS1912.1																																																																																				0.542	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		25	85	1	0	4.87955e-14	0.005443	6.07017e-14	25	85				
LOXL3	84695	broad.mit.edu	37	2	74763974	74763974	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:74763974A>T	ENST00000264094.3	-	5	845	c.774T>A	c.(772-774)tgT>tgA	p.C258*	LOXL3_ENST00000409249.1_Nonsense_Mutation_p.C258*|LOXL3_ENST00000409549.1_Nonsense_Mutation_p.C258*|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	258	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ACTCCAGGGAACAGAGGGAGA	0.657																																							uc002smp.1		NA																	0					0						c.(772-774)TGT>TGA		lysyl oxidase-like 3 precursor							56.0	59.0	58.0					2																	74763974		2203	4300	6503	SO:0001587	stop_gained	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763974A>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.774T>A	2.37:g.74763974A>T	ENSP00000264094:p.Cys258*					LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Nonsense_Mutation_p.C258*|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	p.C258*	NM_032603	NP_115992	P58215	LOXL3_HUMAN			5	846	-			258			SRCR 2.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Nonsense_Mutation	SNP	ENST00000264094.3	37	c.774T>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427774	0.62733	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	.	.	.	4.5	0.121	0.14695	.	0.053341	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.793	0.29131	0.4356:0.0:0.5644:0.0	.	.	.	.	X	258	.	ENSP00000264094:C258X	C	-	3	2	LOXL3	74617482	0.997000	0.39634	0.985000	0.45067	0.995000	0.86356	1.260000	0.32968	-0.081000	0.12662	0.383000	0.25322	TGT		0.657	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		19	64	0	0	0	0.007413	0	19	64				
HK2	3099	broad.mit.edu	37	2	75100444	75100444	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:75100444A>T	ENST00000290573.2	+	5	1137	c.537A>T	c.(535-537)ggA>ggT	p.G179G	HK2_ENST00000409174.1_Silent_p.G151G	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	179	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGTCCAGTGGAGTGGAAGGCA	0.532																																							uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(535-537)GGA>GGT		hexokinase 2							119.0	123.0	122.0					2																	75100444		2203	4298	6501	SO:0001819	synonymous_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75100444A>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.537A>T	2.37:g.75100444A>T							p.G179G	NM_000189	NP_000180	P52789	HXK2_HUMAN			5	2463	+			179			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	c.537A>T	CCDS1956.1																																																																																				0.532	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		16	122	0	0	0	0.00499	0	16	122				
CTNNA2	1496	broad.mit.edu	37	2	80801393	80801393	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:80801393T>A	ENST00000402739.4	+	12	1852	c.1847T>A	c.(1846-1848)gTg>gAg	p.V616E	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V650E|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V616E|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V616E|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V295E|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V616E|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V616E	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	616					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTCGCCTGGTGTATGATGGC	0.517																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1846-1848)GTG>GAG		catenin, alpha 2 isoform 1							171.0	164.0	166.0					2																	80801393		2148	4277	6425	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801393T>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1847T>A	2.37:g.80801393T>A	ENSP00000384638:p.Val616Glu					CTNNA2_uc010yse.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysf.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysg.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysi.1_Missense_Mutation_p.V248E	p.V616E	NM_004389	NP_004380	P26232	CTNA2_HUMAN			12	1852	+			616					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1847T>A		.	.	.	.	.	.	.	.	.	.	T	31	5.091678	0.94149	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.75	5.75	0.90469	.	0.066177	0.64402	D	0.000012	T	0.79287	0.4420	M	0.88450	2.955	0.80722	D	1	P;D;D;D	0.63046	0.834;0.992;0.972;0.99	P;D;P;D	0.72982	0.66;0.979;0.892;0.93	T	0.82827	-0.0265	9	.	.	.	.	14.6323	0.68666	0.0:0.0:0.0:1.0	.	248;616;616;616	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	E	616;616;650;616;616;616;295	ENSP00000418191:V616E;ENSP00000419295:V616E;ENSP00000355398:V650E;ENSP00000384638:V616E;ENSP00000444675:V616E;ENSP00000441705:V616E;ENSP00000341500:V295E	.	V	+	2	0	CTNNA2	80654904	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.985000	0.88162	2.206000	0.71126	0.533000	0.62120	GTG		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	101	0	0	0	0.00278	0	23	101				
CTNNA2	1496	broad.mit.edu	37	2	80808944	80808944	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:80808944G>T	ENST00000402739.4	+	13	2012	c.2007G>T	c.(2005-2007)cgG>cgT	p.R669R	CTNNA2_ENST00000361291.4_Splice_Site_p.R703R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Splice_Site_p.R669R|CTNNA2_ENST00000466387.1_Splice_Site_p.R669R|CTNNA2_ENST00000343114.3_Splice_Site_p.R348R|CTNNA2_ENST00000541047.1_Splice_Site_p.R669R|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Splice_Site_p.R669R|AC008067.2_ENST00000596887.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGCGCACGGGTGAGTGGAC	0.493																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2005-2007)CGG>CGT		catenin, alpha 2 isoform 1							80.0	84.0	83.0					2																	80808944		2094	4204	6298	SO:0001630	splice_region_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80808944G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2007+1G>T	2.37:g.80808944G>T						CTNNA2_uc010yse.1_Silent_p.R669R|CTNNA2_uc010ysf.1_Silent_p.R669R|CTNNA2_uc010ysg.1_Silent_p.R669R|CTNNA2_uc010ysi.1_Silent_p.R301R	p.R669R	NM_004389	NP_004380	P26232	CTNA2_HUMAN			13	2012	+			669					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.2007G>T																																																																																					0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Silent	7	40	1	0	0.00198382	0.001984	0.00207558	7	40				
MGAT4A	11320	broad.mit.edu	37	2	99261962	99261962	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:99261962A>G	ENST00000264968.3	-	8	1181	c.818T>C	c.(817-819)aTa>aCa	p.I273T	MGAT4A_ENST00000409391.1_Missense_Mutation_p.I273T|MGAT4A_ENST00000393487.1_Missense_Mutation_p.I273T|MGAT4A_ENST00000414521.2_Missense_Mutation_p.I145T			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	273					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.I273T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAAATTTTTTATGGTATTAAA	0.299																																							uc002sze.2		NA																	1	Substitution - Missense(1)		breast(1)	skin(1)	1						c.(817-819)ATA>ACA		alpha-1,3-mannosyl-glycoprotein							43.0	48.0	46.0					2																	99261962		2202	4296	6498	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99261962A>G	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.818T>C	2.37:g.99261962A>G	ENSP00000264968:p.Ile273Thr					C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Missense_Mutation_p.I145T|MGAT4A_uc010fil.2_Missense_Mutation_p.I27T	p.I273T	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			9	1132	-			273			Lumenal (Potential).		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.818T>C	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851277	0.71719	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.78	5.78	0.91487	.	0.078821	0.85682	D	0.000000	T	0.60894	0.2304	M	0.79011	2.435	0.80722	D	1	P;P	0.43231	0.801;0.801	P;B	0.48952	0.596;0.423	T	0.64063	-0.6495	10	0.51188	T	0.08	.	15.295	0.73898	1.0:0.0:0.0:0.0	.	145;273	E9PEN2;Q9UM21	.;MGT4A_HUMAN	T	273;145;273;273	ENSP00000377127:I273T;ENSP00000404889:I145T;ENSP00000264968:I273T;ENSP00000386841:I273T	ENSP00000264968:I273T	I	-	2	0	MGAT4A	98628394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.176000	0.94839	2.220000	0.72140	0.533000	0.62120	ATA		0.299	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		7	42	0	0	0	0.00308	0	7	42				
REV1	51455	broad.mit.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	T	rs183307465	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:100020219C>T	ENST00000258428.3	-	19	3333	c.3105G>A	c.(3103-3105)gcG>gcA	p.A1035A	REV1_ENST00000393445.3_Silent_p.A1034A|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1035					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.A1035A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATCATACGCTGCTTTCA	0.498								Direct reversal of damage																															uc002tad.2		NA																	1	Substitution - coding silent(1)	p.A1035A(1)	ovary(1)	ovary(2)	2						c.(3103-3105)GCG>GCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							114.0	104.0	107.0					2																	100020219		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100020219C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3105G>A	2.37:g.100020219C>T						REV1_uc002tac.2_Silent_p.A1034A	p.A1035A	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			19	3317	-			1035					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.3105G>A	CCDS2045.1																																																																																				0.498	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		12	91	0	0	0	0.000978	0	12	91				
SLC9A4	389015	broad.mit.edu	37	2	103148849	103148849	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:103148849G>A	ENST00000295269.4	+	12	2556	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	700					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTCGGATAGGGTCACTTCAG	0.458																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2098-2100)GGG>GAG		solute carrier family 9 (sodium/hydrogen							98.0	96.0	97.0					2																	103148849		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148849G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2099G>A	2.37:g.103148849G>A	ENSP00000295269:p.Gly700Glu						p.G700E	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2556	+			700			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2099G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789691	0.16258	.	.	ENSG00000180251	ENST00000295269	T	0.46063	0.88	4.9	2.06	0.26882	.	1.705140	0.03345	N	0.195340	T	0.30792	0.0776	L	0.32530	0.975	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.21552	-1.0242	10	0.02654	T	1	.	8.2249	0.31562	0.0828:0.2967:0.6206:0.0	.	700	Q6AI14	SL9A4_HUMAN	E	700	ENSP00000295269:G700E	ENSP00000295269:G700E	G	+	2	0	SLC9A4	102515281	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.607000	0.24209	0.207000	0.20607	-0.951000	0.02657	GGG		0.458	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		9	74	0	0	0	0.006214	0	9	74				
TMEM182	130827	broad.mit.edu	37	2	103414332	103414332	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:103414332T>C	ENST00000412401.2	+	4	547	c.342T>C	c.(340-342)ggT>ggC	p.G114G	TMEM182_ENST00000409528.1_Silent_p.G18G|TMEM182_ENST00000409173.1_Silent_p.G71G|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	114						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTACCGTGGTTTCTGGGCAG	0.463																																							uc010fjb.2		NA																	0					0						c.(340-342)GGT>GGC		transmembrane protein 182 precursor							91.0	95.0	94.0					2																	103414332		2203	4300	6503	SO:0001819	synonymous_variant	130827					integral to membrane		g.chr2:103414332T>C	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.342T>C	2.37:g.103414332T>C						TMEM182_uc002tcc.3_Silent_p.G71G|TMEM182_uc002tcd.3_Silent_p.G18G|TMEM182_uc010ywe.1_RNA	p.G114G	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			4	529	+			114			Extracellular (Potential).		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	ENST00000412401.2	37	c.342T>C	CCDS2064.1																																																																																				0.463	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		10	62	0	0	0	0.006214	0	10	62				
GPR45	11250	broad.mit.edu	37	2	105858858	105858858	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:105858858G>T	ENST00000258456.1	+	1	659	c.543G>T	c.(541-543)caG>caT	p.Q181H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCCCCACAGTGCGTGCTGG	0.692																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(541-543)CAG>CAT		G protein-coupled receptor 45							26.0	26.0	26.0					2																	105858858		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858858G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.543G>T	2.37:g.105858858G>T	ENSP00000258456:p.Gln181His						p.Q181H	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	659	+			181			Extracellular (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.543G>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715216	0.48622	.	.	ENSG00000135973	ENST00000258456	T	0.37752	1.18	5.04	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.78456	2.415	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	T	0.56123	-0.8031	10	0.62326	D	0.03	-20.0631	8.8142	0.34985	0.2371:0.0:0.7629:0.0	.	181	Q9Y5Y3	GPR45_HUMAN	H	181	ENSP00000258456:Q181H	ENSP00000258456:Q181H	Q	+	3	2	GPR45	105225290	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	1.637000	0.37155	0.528000	0.28580	-0.448000	0.05591	CAG		0.692	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	25	1	0	0.00448238	0.004482	0.00464673	9	25				
SLC5A7	60482	broad.mit.edu	37	2	108626899	108626899	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:108626899G>T	ENST00000264047.2	+	9	1601	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G337V|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G442V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	442					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TATGTTTCTGGCCTCTTCCTG	0.453																																							uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1324-1326)GGC>GTC		solute carrier family 5 (choline transporter),	Choline(DB00122)						134.0	126.0	129.0					2																	108626899		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626899G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1325G>T	2.37:g.108626899G>T	ENSP00000264047:p.Gly442Val					SLC5A7_uc010ywm.1_Missense_Mutation_p.G195V|SLC5A7_uc010fjj.2_Missense_Mutation_p.G442V|SLC5A7_uc010ywn.1_Missense_Mutation_p.G329V	p.G442V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1601	+			442			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1325G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961218	0.92791	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.97906	-4.6;-4.6;-4.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99170	1.0864	10	0.87932	D	0	-17.0551	20.4024	0.99000	0.0:0.0:1.0:0.0	.	442	Q9GZV3	SC5A7_HUMAN	V	442;337;442	ENSP00000387346:G442V;ENSP00000445351:G337V;ENSP00000264047:G442V	ENSP00000264047:G442V	G	+	2	0	SLC5A7	107993331	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.827000	0.97445	0.650000	0.86243	GGC		0.453	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			40	67	1	0	1.49673e-21	0.00623	1.93548e-21	40	67				
GCC2	9648	broad.mit.edu	37	2	109085534	109085534	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:109085534G>T	ENST00000309863.6	+	5	1029	c.315G>T	c.(313-315)gaG>gaT	p.E105D		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	105					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAAGCAAGAGGTTGAGGTAA	0.318																																							uc002tec.2		NA																	0				ovary(1)	1						c.(313-315)GAG>GAT		GRIP and coiled-coil domain-containing 2							73.0	80.0	78.0					2																	109085534		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109085534G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.315G>T	2.37:g.109085534G>T	ENSP00000307939:p.Glu105Asp					GCC2_uc002ted.2_Missense_Mutation_p.E4D	p.E105D	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			5	469	+			105					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.315G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419504	0.42918	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.34275	1.37	4.67	-0.198	0.13224	.	0.359695	0.28290	N	0.015894	T	0.23766	0.0575	L	0.36672	1.1	0.42064	D	0.991179	P	0.40970	0.734	B	0.37731	0.257	T	0.03130	-1.1069	10	0.45353	T	0.12	.	8.3152	0.32095	0.6773:0.0:0.3227:0.0	.	105	Q8IWJ2	GCC2_HUMAN	D	105;105;108;68	ENSP00000307939:E105D	ENSP00000307939:E105D	E	+	3	2	GCC2	108451966	0.955000	0.32602	0.964000	0.40570	0.973000	0.67179	0.196000	0.17176	0.040000	0.15660	0.460000	0.39030	GAG		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		6	81	1	0	2.0095e-06	0.001984	2.23198e-06	6	81				
CCDC138	165055	broad.mit.edu	37	2	109432411	109432411	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:109432411G>A	ENST00000295124.4	+	10	1116	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	CCDC138_ENST00000412964.2_Silent_p.G352G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	352										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CACTTAATGGGCAAGTTTATG	0.308																																							uc002ten.1		NA																	0					0						c.(1054-1056)GGG>GGA		coiled-coil domain containing 138							86.0	88.0	87.0					2																	109432411		2202	4299	6501	SO:0001819	synonymous_variant	165055							g.chr2:109432411G>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1056G>A	2.37:g.109432411G>A						CCDC138_uc002teo.1_Silent_p.G352G|CCDC138_uc002tep.1_Silent_p.G36G|CCDC138_uc010fjm.1_Silent_p.G36G	p.G352G	NM_144978	NP_659415	Q96M89	CC138_HUMAN			10	1116	+			352					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.1056G>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776827	0.16120	.	.	ENSG00000163006	ENST00000456512	T	0.44482	0.92	6.07	-6.42	0.01932	.	0.593216	0.17981	N	0.155528	T	0.35038	0.0918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41215	-0.9521	7	0.52906	T	0.07	9.8463	2.6426	0.04975	0.3879:0.2781:0.2431:0.0909	.	.	.	.	D	249	ENSP00000392385:G249D	ENSP00000392385:G249D	G	+	2	0	CCDC138	108798843	0.409000	0.25368	0.899000	0.35326	0.975000	0.68041	-0.566000	0.05922	-1.007000	0.03408	-1.110000	0.02074	GGC		0.308	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		12	79	0	0	0	0.001368	0	12	79				
SH3RF3	344558	broad.mit.edu	37	2	110015112	110015112	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:110015112A>G	ENST00000309415.6	+	4	1012	c.1012A>G	c.(1012-1014)Aat>Gat	p.N338D		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	338							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ATCCAGCTGCAATGCCTCCCT	0.617																																							uc010ywt.1		NA																	0				ovary(1)	1						c.(1012-1014)AAT>GAT		SH3 domain containing ring finger 3							34.0	36.0	36.0					2																	110015112		2203	4299	6502	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015112A>G	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1012A>G	2.37:g.110015112A>G	ENSP00000309186:p.Asn338Asp						p.N338D	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1012	+			338					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1012A>G		.	.	.	.	.	.	.	.	.	.	A	0.497	-0.872735	0.02570	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.04603	3.59;3.59	4.4	0.463	0.16700	.	0.758999	0.10897	N	0.622020	T	0.02727	0.0082	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49437	-0.8940	9	0.15499	T	0.54	0.0032	6.649	0.22951	0.2299:0.1689:0.6011:0.0	.	338	Q8TEJ3	SH3R3_HUMAN	D	338	ENSP00000414997:N338D;ENSP00000309186:N338D	ENSP00000309186:N338D	N	+	1	0	SH3RF3	109381544	0.923000	0.31300	0.002000	0.10522	0.121000	0.20230	1.950000	0.40323	-0.029000	0.13827	-0.379000	0.06801	AAT		0.617	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		3	11	0	0	0	0.009096	0	3	11				
ACOXL	55289	broad.mit.edu	37	2	111721234	111721234	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:111721234A>C	ENST00000389811.4	+	13	1317	c.1093A>C	c.(1093-1095)Aag>Cag	p.K365Q	ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	365					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTCAGGCTTAAAGTGTGACAC	0.398																																							uc002tgr.3		NA																	0					0						c.(1093-1095)AAG>CAG		acyl-Coenzyme A oxidase-like 2							225.0	204.0	211.0					2																	111721234		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111721234A>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1093A>C	2.37:g.111721234A>C	ENSP00000374461:p.Lys365Gln					ACOXL_uc010fkc.2_Intron|ACOXL_uc010yxk.1_Intron	p.K365Q	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			13	1317	+			365					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1093A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.3|21.3	4.125848|4.125848	0.77436|0.77436	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811|ENST00000433706	D|.	0.95949|.	-3.86|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69958|.	0.3169|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	D|.	0.69142|.	0.962|.	T|.	0.69367|.	-0.5164|.	9|.	0.37606|.	T|.	0.19|.	.|.	13.5471|13.5471	0.61711|0.61711	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	365|.	Q9NUZ1|.	ACOXL_HUMAN|.	Q|Y	365|100	ENSP00000374461:K365Q|.	ENSP00000374461:K365Q|.	K|X	+|+	1|3	0|2	ACOXL|ACOXL	111437705|111437705	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.782000|0.782000	0.44232|0.44232	2.434000|2.434000	0.44802|0.44802	2.091000|2.091000	0.63221|0.63221	0.459000|0.459000	0.35465|0.35465	AAG|TAA		0.398	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		14	105	0	0	0	0.003163	0	14	105				
DPP10	57628	broad.mit.edu	37	2	116593767	116593767	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:116593767A>T	ENST00000410059.1	+	22	2465	c.1985A>T	c.(1984-1986)aAa>aTa	p.K662I	DPP10_ENST00000393147.2_Missense_Mutation_p.K666I|DPP10_ENST00000409163.1_Missense_Mutation_p.K612I|DPP10_ENST00000310323.8_Missense_Mutation_p.K655I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	662						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGATCTTAAAATCAGATGAA	0.353																																							uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1984-1986)AAA>ATA		dipeptidyl peptidase 10 isoform long							84.0	81.0	82.0					2																	116593767		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593767A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1985A>T	2.37:g.116593767A>T	ENSP00000386565:p.Lys662Ile					DPP10_uc002tlb.1_Missense_Mutation_p.K612I|DPP10_uc002tlc.1_Missense_Mutation_p.K658I|DPP10_uc002tle.2_Missense_Mutation_p.K666I|DPP10_uc002tlf.1_Missense_Mutation_p.K655I	p.K662I	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			22	2442	+			662			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1985A>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279760	0.59758	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.67	5.67	0.87782	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	N	0.04508	-0.205	0.58432	D	0.999999	P;D;P;P	0.89917	0.658;1.0;0.804;0.706	B;D;B;B	0.74023	0.299;0.982;0.425;0.425	T	0.46965	-0.9153	10	0.48119	T	0.1	-0.0356	15.0912	0.72195	1.0:0.0:0.0:0.0	.	655;666;658;662	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	662;612;666;655	ENSP00000386565:K662I;ENSP00000387038:K612I;ENSP00000376855:K666I;ENSP00000309066:K655I	ENSP00000309066:K655I	K	+	2	0	DPP10	116310237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.479000	0.81095	2.141000	0.66446	0.533000	0.62120	AAA		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		6	35	0	0	0	0.004482	0	6	35				
CNTNAP5	129684	broad.mit.edu	37	2	125530593	125530593	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:125530593A>T	ENST00000431078.1	+	17	3112	c.2748A>T	c.(2746-2748)gtA>gtT	p.V916V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	916	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTTGTTTGTAGGTAGGGGAC	0.498																																							uc002tno.2		NA																	0				ovary(10)	10						c.(2746-2748)GTA>GTT		contactin associated protein-like 5 precursor							90.0	85.0	87.0					2																	125530593		1905	4120	6025	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530593A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2749+1A>T	2.37:g.125530593A>T						CNTNAP5_uc010flu.2_Silent_p.V917V	p.V916V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3112	+			916			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2748A>T	CCDS46401.1																																																																																				0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Silent	24	107	0	0	0	0.00333	0	24	107				
PLEKHB2	55041	broad.mit.edu	37	2	131883392	131883392	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:131883392A>T	ENST00000403716.1	+	3	664	c.104A>T	c.(103-105)tAt>tTt	p.Y35F	PLEKHB2_ENST00000404460.1_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000538982.1_De_novo_Start_OutOfFrame|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.Y35F|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.Y35F	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	35	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTGATCTATTATGATGACCAG	0.458																																							uc002tsg.3		NA																	0				ovary(2)	2						c.(103-105)TAT>TTT		pleckstrin homology domain containing, family B							117.0	108.0	111.0					2																	131883392		2203	4300	6503	SO:0001583	missense	55041					membrane	protein binding	g.chr2:131883392A>T		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.104A>T	2.37:g.131883392A>T	ENSP00000385892:p.Tyr35Phe					PLEKHB2_uc002tsh.2_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsj.3_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsf.3_Missense_Mutation_p.Y35F|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.Y35F|PLEKHB2_uc010zaq.1_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsi.3_Missense_Mutation_p.Y76F	p.Y35F	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	3	664	+			35			PH.		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	c.104A>T	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983079	0.74474	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.076111	0.53938	U	0.000041	T	0.42471	0.1204	M	0.67569	2.06	0.80722	D	1	D;D;P;D;P;P;D	0.89917	0.999;1.0;0.936;0.97;0.936;0.936;1.0	D;D;P;P;P;P;D	0.87578	0.992;0.996;0.571;0.687;0.693;0.571;0.998	T	0.18840	-1.0324	10	0.33141	T	0.24	0.2385	12.8138	0.57654	1.0:0.0:0.0:0.0	.	35;35;35;35;35;35;35	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	F	35	ENSP00000386410:Y35F;ENSP00000385892:Y35F;ENSP00000234115:Y35F;ENSP00000389629:Y35F;ENSP00000401193:Y35F;ENSP00000385609:Y35F;ENSP00000386662:Y35F;ENSP00000386666:Y35F;ENSP00000306852:Y35F	ENSP00000234115:Y35F	Y	+	2	0	PLEKHB2	131599862	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	6.414000	0.73318	1.978000	0.57642	0.379000	0.24179	TAT		0.458	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		18	82	0	0	0	0.006122	0	18	82				
LYPD1	116372	broad.mit.edu	37	2	133403780	133403780	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:133403780G>A	ENST00000397463.2	-	3	536	c.264C>T	c.(262-264)tgC>tgT	p.C88C	LYPD1_ENST00000345008.6_Silent_p.C36C|GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	88	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TCCCTGGGGAGCAGAAGGACT	0.567																																							uc002ttn.2		NA																	0					0						c.(262-264)TGC>TGT		LY6/PLAUR domain containing 1 isoform a							54.0	62.0	59.0					2																	133403780		2092	4212	6304	SO:0001819	synonymous_variant	116372					anchored to membrane|plasma membrane		g.chr2:133403780G>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.264C>T	2.37:g.133403780G>A						GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Silent_p.C104C|LYPD1_uc002tto.2_Silent_p.C36C	p.C88C	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN			3	1240	-			88			UPAR/Ly6.		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Silent	SNP	ENST00000397463.2	37	c.264C>T	CCDS42759.1																																																																																				0.567	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		9	39	0	0	0	0.006214	0	9	39				
DARS	1615	broad.mit.edu	37	2	136664929	136664929	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:136664929T>C	ENST00000264161.4	-	16	1678	c.1463A>G	c.(1462-1464)cAg>cGg	p.Q488R	DARS_ENST00000537273.1_Missense_Mutation_p.Q388R	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	488					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CATGGAGGTCTGACGAACATT	0.438																																							uc002tux.1		NA																	0				ovary(1)	1						c.(1462-1464)CAG>CGG		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						121.0	108.0	113.0					2																	136664929		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136664929T>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1463A>G	2.37:g.136664929T>C	ENSP00000264161:p.Gln488Arg					DARS_uc010fnj.1_Missense_Mutation_p.Q388R	p.Q488R	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	16	1647	-			488					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1463A>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342455	0.41498	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	T;D;T	0.84370	0.98;-1.84;0.98	5.49	5.49	0.81192	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	N	0.01202	-0.96	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.63157	-0.6700	10	0.21540	T	0.41	-4.7504	15.5902	0.76521	0.0:0.0:0.0:1.0	.	488	P14868	SYDC_HUMAN	R	488;175;388	ENSP00000264161:Q488R;ENSP00000387508:Q175R;ENSP00000444192:Q388R	ENSP00000264161:Q488R	Q	-	2	0	DARS	136381399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.085000	0.62840	0.460000	0.39030	CAG		0.438	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		6	57	0	0	0	0.001984	0	6	57				
THSD7B	80731	broad.mit.edu	37	2	137990553	137990553	+	Missense_Mutation	SNP	C	C	T	rs372735350		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:137990553C>T	ENST00000409968.1	+	9	2178	c.2000C>T	c.(1999-2001)aCa>aTa	p.T667I	THSD7B_ENST00000413152.2_Missense_Mutation_p.T636I|THSD7B_ENST00000272643.3_Missense_Mutation_p.T667I|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	667	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACTGGGAGACATCGCCTTGG	0.502																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1906-1908)ACA>ATA		thrombospondin, type I, domain containing 7B		C	ILE/THR	0,4020		0,0,2010	120.0	119.0	119.0		1907	5.7	1.0	2		119	1,8347		0,1,4173	no	missense	THSD7B	NM_001080427.1	89	0,1,6183	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	636/1578	137990553	1,12367	2010	4174	6184	SO:0001583	missense	80731							g.chr2:137990553C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2000C>T	2.37:g.137990553C>T	ENSP00000387145:p.Thr667Ile					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T526I	p.T636I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	8	1907	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1907C>T		.	.	.	.	.	.	.	.	.	.	C	17.36	3.371247	0.61624	0.0	1.2E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.65	5.65	0.86999	.	0.192908	0.56097	D	0.000029	T	0.59183	0.2175	L	0.57536	1.79	0.80722	D	1	P;P	0.43542	0.81;0.81	P;P	0.45753	0.492;0.492	T	0.53450	-0.8437	10	0.22706	T	0.39	.	15.2101	0.73214	0.0:0.9306:0.0:0.0694	.	667;636	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	667;667;636	ENSP00000387145:T667I;ENSP00000272643:T667I;ENSP00000413841:T636I	ENSP00000272643:T667I	T	+	2	0	THSD7B	137707023	0.996000	0.38824	0.974000	0.42286	0.161000	0.22273	4.585000	0.60977	2.826000	0.97356	0.491000	0.48974	ACA		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		22	43	0	0	0	0.001882	0	22	43				
LRP1B	53353	broad.mit.edu	37	2	141201983	141201983	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141201983T>A	ENST00000389484.3	-	65	11181	c.10210A>T	c.(10210-10212)Acc>Tcc	p.T3404S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3404	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTCTTGGTACATTTGAAT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10210-10212)ACC>TCC		low density lipoprotein-related protein 1B							193.0	178.0	183.0					2																	141201983		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201983T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10210A>T	2.37:g.141201983T>A	ENSP00000374135:p.Thr3404Ser	TSP Lung(27;0.18)					p.T3404S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	65	11182	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3404			Extracellular (Potential).|LDL-receptor class A 23.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10210A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364037	0.61513	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95342	-3.68	5.32	5.32	0.75619	.	0.068243	0.56097	U	0.000022	D	0.86264	0.5891	N	0.05467	-0.045	0.36279	D	0.855671	B	0.24426	0.103	B	0.22152	0.038	D	0.84197	0.0448	10	0.08599	T	0.76	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	3404	Q9NZR2	LRP1B_HUMAN	S	3404;3342	ENSP00000374135:T3404S	ENSP00000374135:T3404S	T	-	1	0	LRP1B	140918453	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.806000	0.62569	2.234000	0.73211	0.460000	0.39030	ACC		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	83	0	0	0	0.008871	0	20	83				
LRP1B	53353	broad.mit.edu	37	2	141641441	141641441	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141641441G>T	ENST00000389484.3	-	25	5085	c.4114C>A	c.(4114-4116)Cta>Ata	p.L1372I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1372					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGCTATTAGTGTAGTTCTT	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4114-4116)CTA>ATA		low density lipoprotein-related protein 1B							167.0	164.0	165.0					2																	141641441		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641441G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4114C>A	2.37:g.141641441G>T	ENSP00000374135:p.Leu1372Ile	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.L554I	p.L1372I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5086	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1372			Extracellular (Potential).|LDL-receptor class B 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4114C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803387	0.50315	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96940	-4.18;-4.18	5.64	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000017	D	0.97046	0.9035	L	0.61036	1.89	0.47037	D	0.999292	P;D	0.76494	0.948;0.999	P;D	0.87578	0.844;0.998	D	0.96243	0.9177	10	0.42905	T	0.14	.	9.4216	0.38555	0.2039:0.0:0.7961:0.0	.	555;1372	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1372;1310;517	ENSP00000374135:L1372I;ENSP00000413239:L517I	ENSP00000374135:L1372I	L	-	1	2	LRP1B	141357911	0.995000	0.38212	0.975000	0.42487	0.963000	0.63663	2.369000	0.44231	1.511000	0.48818	0.655000	0.94253	CTA		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		51	84	1	0	1.15181e-12	0.00361	1.41306e-12	51	84				
LRP1B	53353	broad.mit.edu	37	2	141751631	141751631	+	Missense_Mutation	SNP	T	T	A	rs367806692		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141751631T>A	ENST00000389484.3	-	16	3548	c.2577A>T	c.(2575-2577)caA>caT	p.Q859H	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	859	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q859H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACCGAGCTTGGATACAGT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2575-2577)CAA>CAT		low density lipoprotein-related protein 1B							137.0	130.0	132.0					2																	141751631		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751631T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2577A>T	2.37:g.141751631T>A	ENSP00000374135:p.Gln859His	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.Q859H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	16	3549	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	859			Extracellular (Potential).|LDL-receptor class A 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2577A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425532	0.62733	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.95	3.84	0.44239	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.157054	0.43579	D	0.000547	D	0.86205	0.5877	N	0.16201	0.385	0.31380	N	0.679135	B	0.11235	0.004	B	0.15052	0.012	T	0.79783	-0.1658	10	0.59425	D	0.04	.	3.9441	0.09341	0.1606:0.321:0.0:0.5184	.	859	Q9NZR2	LRP1B_HUMAN	H	859;797	ENSP00000374135:Q859H	ENSP00000374135:Q859H	Q	-	3	2	LRP1B	141468101	0.968000	0.33430	1.000000	0.80357	0.996000	0.88848	0.246000	0.18160	0.553000	0.29044	0.460000	0.39030	CAA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	99	0	0	0	0.00278	0	22	99				
LRP1B	53353	broad.mit.edu	37	2	141812773	141812773	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141812773G>C	ENST00000389484.3	-	10	2435	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	488	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGACAGATGTGTGAACAGC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1462-1464)CAC>CAG		low density lipoprotein-related protein 1B							114.0	101.0	105.0					2																	141812773		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812773G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1464C>G	2.37:g.141812773G>C	ENSP00000374135:p.His488Gln	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.H488Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	10	2436	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	488			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1464C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445724	0.43429	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97186	-4.28	5.45	4.56	0.56223	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.93812	0.8021	L	0.43152	1.355	0.48975	D	0.999733	P	0.38922	0.651	B	0.30251	0.113	D	0.92487	0.5997	10	0.34782	T	0.22	.	16.1377	0.81497	0.0:0.1339:0.8661:0.0	.	488	Q9NZR2	LRP1B_HUMAN	Q	488;426	ENSP00000374135:H488Q	ENSP00000374135:H488Q	H	-	3	2	LRP1B	141529243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.764000	0.62264	1.285000	0.44548	0.557000	0.71058	CAC		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	54	0	0	0	0.001368	0	13	54				
LRP1B	53353	broad.mit.edu	37	2	142237972	142237972	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:142237972A>T	ENST00000389484.3	-	3	1307	c.336T>A	c.(334-336)caT>caA	p.H112Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	112	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCCTGACAATGTACTCCTT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(334-336)CAT>CAA		low density lipoprotein-related protein 1B							92.0	79.0	83.0					2																	142237972		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142237972A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.336T>A	2.37:g.142237972A>T	ENSP00000374135:p.His112Gln	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.H112Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	3	1308	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	112			Extracellular (Potential).|LDL-receptor class A 2.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.336T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057905	0.76074	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95272	-3.66	5.51	-6.59	0.01830	Growth factor, receptor (1);	0.061584	0.64402	N	0.000004	D	0.88782	0.6530	L	0.58302	1.8	0.34062	D	0.657433	B	0.21071	0.051	B	0.22152	0.038	T	0.74121	-0.3767	10	0.12103	T	0.63	.	10.736	0.46126	0.4354:0.0986:0.466:0.0	.	112	Q9NZR2	LRP1B_HUMAN	Q	112;48	ENSP00000374135:H112Q	ENSP00000374135:H112Q	H	-	3	2	LRP1B	141954442	0.999000	0.42202	0.415000	0.26534	0.990000	0.78478	0.742000	0.26216	-1.061000	0.03185	0.528000	0.53228	CAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	46	0	0	0	0.000602	0	5	46				
PLA2R1	22925	broad.mit.edu	37	2	160901445	160901445	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:160901445A>G	ENST00000283243.7	-	2	539	c.333T>C	c.(331-333)gtT>gtC	p.V111V	PLA2R1_ENST00000392771.1_Silent_p.V111V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	111	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACCGTAAGGAAACGAGGGTGG	0.537																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(331-333)GTT>GTC		phospholipase A2 receptor 1 isoform 1 precursor							80.0	78.0	79.0					2																	160901445		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160901445A>G	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.333T>C	2.37:g.160901445A>G						PLA2R1_uc010zcp.1_Silent_p.V111V|PLA2R1_uc002ubf.2_Silent_p.V111V	p.V111V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			2	540	-			111			Extracellular (Potential).|Ricin B-type lectin.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.333T>C	CCDS33309.1																																																																																				0.537	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			12	74	0	0	0	0.000978	0	12	74				
ITGB6	3694	broad.mit.edu	37	2	161056554	161056554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:161056554G>T	ENST00000283249.2	-	1	258	c.21C>A	c.(19-21)tgC>tgA	p.C7*	ITGB6_ENST00000409967.2_Nonsense_Mutation_p.C7*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.C7*|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	7					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAAAGAACAGGCAAAGCAGTT	0.398																																							uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(19-21)TGC>TGA		integrin, beta 6 precursor							137.0	122.0	127.0					2																	161056554		2203	4300	6503	SO:0001587	stop_gained	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161056554G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.21C>A	2.37:g.161056554G>T	ENSP00000283249:p.Cys7*					ITGB6_uc010fow.1_Intron|ITGB6_uc010fou.2_Nonsense_Mutation_p.C7*|ITGB6_uc010zcq.1_5'UTR|ITGB6_uc010fov.1_Nonsense_Mutation_p.C7*	p.C7*	NM_000888	NP_000879	P18564	ITB6_HUMAN			1	37	-			7					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	c.21C>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	38	6.919006	0.97936	.	.	ENSG00000115221	ENST00000283249;ENST00000409967;ENST00000409872	.	.	.	5.83	5.83	0.93111	.	0.230245	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000283249:C7X	C	-	3	2	ITGB6	160764800	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.446000	0.66600	2.771000	0.95319	0.591000	0.81541	TGC		0.398	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	74	1	0	3.09899e-07	0.004482	3.51746e-07	7	74				
FAP	2191	broad.mit.edu	37	2	163074565	163074565	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:163074565T>C	ENST00000188790.4	-	9	900	c.693A>G	c.(691-693)atA>atG	p.I231M	FAP_ENST00000443424.1_Missense_Mutation_p.I206M	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAATAACTGGTATATCCGTAT	0.348																																							uc002ucd.2		NA																	0				ovary(3)	3						c.(691-693)ATA>ATG		fibroblast activation protein, alpha subunit							111.0	113.0	112.0					2																	163074565		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163074565T>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.693A>G	2.37:g.163074565T>C	ENSP00000188790:p.Ile231Met					FAP_uc010zct.1_Missense_Mutation_p.I206M|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.I198M	p.I231M	NM_004460	NP_004451	Q12884	SEPR_HUMAN			9	901	-			231			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.693A>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053696	0.55218	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.33865	1.39;1.39	5.74	1.87	0.25490	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.054582	0.85682	D	0.000000	T	0.43545	0.1252	L	0.46157	1.445	0.40769	D	0.983075	D;D;D	0.56968	0.965;0.978;0.978	D;D;D	0.69142	0.917;0.962;0.962	T	0.39251	-0.9623	10	0.87932	D	0	-18.2105	2.9639	0.05901	0.2473:0.065:0.1296:0.558	.	206;231;231	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	M	231;206	ENSP00000188790:I231M;ENSP00000411391:I206M	ENSP00000188790:I231M	I	-	3	3	FAP	162782811	0.983000	0.35010	1.000000	0.80357	0.941000	0.58515	0.095000	0.15127	0.128000	0.18479	0.460000	0.39030	ATA		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			18	94	0	0	0	0.006122	0	18	94				
FIGN	55137	broad.mit.edu	37	2	164467255	164467255	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:164467255T>C	ENST00000333129.3	-	3	1401	c.1087A>G	c.(1087-1089)Aat>Gat	p.N363D	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	363					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCAAAGCCATTCCCCCGATTT	0.453																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1087-1089)AAT>GAT		fidgetin							131.0	128.0	129.0					2																	164467255		1975	4151	6126	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467255T>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1087A>G	2.37:g.164467255T>C	ENSP00000333836:p.Asn363Asp						p.N363D	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1398	-			363					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1087A>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675180	0.29783	.	.	ENSG00000182263	ENST00000333129	D	0.92965	-3.14	5.94	5.94	0.96194	.	0.265527	0.41712	D	0.000831	D	0.90714	0.7086	L	0.59436	1.845	0.58432	D	0.999996	B	0.23854	0.092	B	0.21917	0.037	D	0.87914	0.2699	10	0.56958	D	0.05	-13.0609	16.4004	0.83639	0.0:0.0:0.0:1.0	.	363	Q5HY92	FIGN_HUMAN	D	363	ENSP00000333836:N363D	ENSP00000333836:N363D	N	-	1	0	FIGN	164175501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.256000	0.72473	2.270000	0.75569	0.460000	0.39030	AAT		0.453	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		7	97	0	0	0	0.00308	0	7	97				
SCN2A	6326	broad.mit.edu	37	2	166187980	166187980	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166187980G>A	ENST00000375437.2	+	14	2580	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	SCN2A_ENST00000357398.3_Missense_Mutation_p.A764T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A764T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A764T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	764					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTGACCTGGCCATCACCAT	0.428																																							uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(2290-2292)GCC>ACC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						199.0	169.0	179.0					2																	166187980		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166187980G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2290G>A	2.37:g.166187980G>A	ENSP00000364586:p.Ala764Thr					SCN2A_uc002udd.2_Missense_Mutation_p.A764T|SCN2A_uc002ude.2_Missense_Mutation_p.A764T	p.A764T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			14	2580	+			764			II.|Helical; Name=S1 of repeat II; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2290G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460412	0.43736	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.97123	0.9060	L	0.41961	1.31	0.47905	D	0.999545	B;D	0.54964	0.184;0.969	B;P	0.60236	0.164;0.871	D	0.95748	0.8789	10	0.21540	T	0.41	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	764;764	Q99250-2;Q99250	.;SCN2A_HUMAN	T	764	ENSP00000364586:A764T;ENSP00000349973:A764T;ENSP00000283256:A764T;ENSP00000364576:A764T	ENSP00000283256:A764T	A	+	1	0	SCN2A	165896226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.476000	0.60216	2.616000	0.88540	0.585000	0.79938	GCC		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		14	115	0	0	0	0.00245	0	14	115				
GALNT3	2591	broad.mit.edu	37	2	166627100	166627100	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166627100C>T	ENST00000392701.3	-	2	886	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	37					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTTCTCTTTGCATTAAAACCA	0.299																																							uc010fph.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(109-111)ATG>ATA		polypeptide N-acetylgalactosaminyltransferase 3							39.0	43.0	42.0					2																	166627100		2201	4299	6500	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166627100C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.111G>A	2.37:g.166627100C>T	ENSP00000376465:p.Met37Ile					GALNT3_uc010fpi.1_Missense_Mutation_p.M37I|GALNT3_uc002udi.2_Missense_Mutation_p.M37I	p.M37I	NM_004482	NP_004473	Q14435	GALT3_HUMAN			2	498	-			37			Helical; Signal-anchor for type II membrane protein; (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.111G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535398	0.27475	.	.	ENSG00000115339	ENST00000392701;ENST00000412248;ENST00000431484;ENST00000414977	T;T;T;T	0.78924	0.58;0.29;1.63;-1.22	5.8	3.95	0.45737	.	.	.	.	.	T	0.57051	0.2027	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49818	-0.8899	9	0.24483	T	0.36	.	5.8981	0.18951	0.1548:0.648:0.0:0.1972	.	37;37	Q14435;Q14435-2	GALT3_HUMAN;.	I	37	ENSP00000376465:M37I;ENSP00000412643:M37I;ENSP00000397112:M37I;ENSP00000413477:M37I	ENSP00000376465:M37I	M	-	3	0	GALNT3	166335346	0.883000	0.30277	1.000000	0.80357	0.960000	0.62799	0.147000	0.16202	1.377000	0.46286	0.650000	0.86243	ATG		0.299	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		10	36	0	0	0	0.008291	0	10	36				
SCN1A	6323	broad.mit.edu	37	2	166848817	166848817	+	Silent	SNP	G	G	T	rs121917955		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166848817G>T	ENST00000303395.4	-	26	4967	c.4968C>A	c.(4966-4968)atC>atA	p.I1656I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1645I|SCN1A_ENST00000409050.1_Silent_p.I1628I|SCN1A_ENST00000423058.2_Silent_p.I1656I|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1656			I -> M (in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; dbSNP:rs121917955). {ECO:0000269|PubMed:11254444}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGCGTGCGGATCCCCTTTG	0.493																																							uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM011952	SCN1A	M	rs121917955	c.(4933-4935)ATC>ATA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						110.0	109.0	109.0					2																	166848817		2203	4298	6501	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848817G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4968C>A	2.37:g.166848817G>T							p.I1645I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	4953	-			1656			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.4935C>A	CCDS54413.1																																																																																				0.493	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		41	70	1	0	3.09479e-21	0.006999	3.99783e-21	41	70				
SCN7A	6332	broad.mit.edu	37	2	167304181	167304181	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:167304181G>A	ENST00000409855.1	-	11	1454	c.1328C>T	c.(1327-1329)cCa>cTa	p.P443L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	443					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGTGGAAATTGGTGACCTTTT	0.378																																							uc002udu.1		NA																	0				large_intestine(1)	1						c.(1327-1329)CCA>CTA		sodium channel, voltage-gated, type VII, alpha							248.0	226.0	233.0					2																	167304181		1859	4097	5956	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167304181G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1328C>T	2.37:g.167304181G>A	ENSP00000386796:p.Pro443Leu					SCN7A_uc010fpm.1_RNA	p.P443L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			11	1455	-			443						Missense_Mutation	SNP	ENST00000409855.1	37	c.1328C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	g	9.803	1.181066	0.21787	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96774	-4.11;-4.12	5.13	4.23	0.50019	.	0.618038	0.15269	N	0.271366	D	0.91942	0.7448	L	0.29908	0.895	0.23435	N	0.997687	B	0.27229	0.172	B	0.27380	0.079	D	0.83734	0.0200	10	0.33141	T	0.24	.	9.6686	0.39998	0.0964:0.0:0.9036:0.0	.	443	Q01118	SCN7A_HUMAN	L	443	ENSP00000386796:P443L;ENSP00000413699:P443L	ENSP00000259060:P443L	P	-	2	0	SCN7A	167012427	0.955000	0.32602	0.938000	0.37757	0.450000	0.32258	2.215000	0.42862	2.654000	0.90174	0.586000	0.80456	CCA		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	80	0	0	0	0.00308	0	6	80				
XIRP2	129446	broad.mit.edu	37	2	168096393	168096393	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:168096393C>T	ENST00000409728.1	+	7	1075	c.986C>T	c.(985-987)aCt>aTt	p.T329I	XIRP2_ENST00000409605.1_Missense_Mutation_p.T74I|XIRP2_ENST00000409273.1_Missense_Mutation_p.T74I|XIRP2_ENST00000409043.1_Missense_Mutation_p.T296I|XIRP2_ENST00000409195.1_Missense_Mutation_p.T296I|XIRP2_ENST00000295237.9_Missense_Mutation_p.T296I|XIRP2_ENST00000420519.1_Missense_Mutation_p.T329I|XIRP2_ENST00000409756.2_Missense_Mutation_p.T296I	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	121					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGTTGGCACTTCAAGAAGC	0.373																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(886-888)ACT>ATT		xin actin-binding repeat containing 2 isoform 1							86.0	87.0	87.0					2																	168096393		1866	4116	5982	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168096393C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.986C>T	2.37:g.168096393C>T	ENSP00000386619:p.Thr329Ile					XIRP2_uc010fpn.2_Missense_Mutation_p.T329I|XIRP2_uc010fpo.2_Missense_Mutation_p.T296I|XIRP2_uc010fpp.2_Missense_Mutation_p.T296I|XIRP2_uc002udy.2_Missense_Mutation_p.T121I|XIRP2_uc010fpq.2_Missense_Mutation_p.T74I|XIRP2_uc010fpr.2_Missense_Mutation_p.T74I	p.T296I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			5	905	+			121					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.887C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.822988	0.00071	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;4.42;-0.96;-0.96;4.42;4.41;-0.94	4.46	2.07	0.26955	.	1.093410	0.07061	N	0.833766	T	0.45696	0.1355	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.36939	-0.9727	10	0.02654	T	1	.	5.7345	0.18059	0.0:0.2354:0.0:0.7646	.	121;296;329;121;74	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	I	296;329;296;296;329;296;74;74	ENSP00000386454:T296I;ENSP00000386619:T329I;ENSP00000386840:T296I;ENSP00000386724:T296I;ENSP00000415541:T329I;ENSP00000295237:T296I;ENSP00000387255:T74I;ENSP00000386981:T74I	ENSP00000295237:T296I	T	+	2	0	XIRP2	167804639	0.662000	0.27439	0.036000	0.18154	0.003000	0.03518	0.950000	0.29122	0.148000	0.19059	-0.312000	0.09012	ACT		0.373	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		36	42	0	0	0	0.007835	0	36	42				
XIRP2	129446	broad.mit.edu	37	2	168099218	168099218	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:168099218C>A	ENST00000409195.1	+	9	1405	c.1316C>A	c.(1315-1317)gCa>gAa	p.A439E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A217E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A439E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	264					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAACTCTGGCACAAATTAAT	0.443																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(1315-1317)GCA>GAA		xin actin-binding repeat containing 2 isoform 1							92.0	85.0	87.0					2																	168099218		1948	4140	6088	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099218C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1316C>A	2.37:g.168099218C>A	ENSP00000386840:p.Ala439Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A264E|XIRP2_uc010fpq.2_Missense_Mutation_p.A217E|XIRP2_uc010fpr.2_Intron	p.A439E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1334	+			264					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1316C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519935	0.44866	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04275	3.66;3.66;3.66	5.59	2.71	0.32032	.	0.272209	0.33916	N	0.004431	T	0.05593	0.0147	L	0.52573	1.65	0.29421	N	0.860564	P;P;P	0.50066	0.931;0.928;0.928	B;P;P	0.44897	0.36;0.463;0.463	T	0.26052	-1.0114	10	0.72032	D	0.01	-4.0615	2.3596	0.04304	0.1385:0.515:0.1344:0.212	.	264;264;217	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	439;439;217	ENSP00000386840:A439E;ENSP00000295237:A439E;ENSP00000387255:A217E	ENSP00000295237:A439E	A	+	2	0	XIRP2	167807464	0.021000	0.18746	0.990000	0.47175	0.989000	0.77384	0.597000	0.24059	0.276000	0.22118	0.655000	0.94253	GCA		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	61	1	0	2.27111e-07	0.001368	2.58487e-07	13	61				
CERS6	253782	broad.mit.edu	37	2	169551539	169551539	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:169551539A>G	ENST00000305747.6	+	6	1174	c.587A>G	c.(586-588)cAg>cGg	p.Q196R	CERS6_ENST00000392687.4_Missense_Mutation_p.Q196R	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	196	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ATGTTTTCTCAGTTCACTGAT	0.398																																							uc002ueb.1		NA																	0				skin(1)	1						c.(586-588)CAG>CGG		longevity assurance homolog 6							225.0	191.0	203.0					2																	169551539		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169551539A>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.587A>G	2.37:g.169551539A>G	ENSP00000306579:p.Gln196Arg					LASS6_uc002uec.1_Missense_Mutation_p.Q196R	p.Q196R	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			6	711	+			196			Helical; (Potential).|TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.587A>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932261	0.73442	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.84873	-1.91;-1.91	5.51	4.34	0.51931	TRAM/LAG1/CLN8 homology domain (3);	0.050835	0.85682	D	0.000000	D	0.93125	0.7811	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.992;0.995	D	0.93348	0.6716	10	0.66056	D	0.02	-32.5742	11.8509	0.52412	0.8534:0.1466:0.0:0.0	.	196;196	Q32M63;Q6ZMG9	.;CERS6_HUMAN	R	196	ENSP00000306579:Q196R;ENSP00000376453:Q196R	ENSP00000306579:Q196R	Q	+	2	0	CERS6	169259785	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.839000	0.86812	0.900000	0.36469	0.533000	0.62120	CAG		0.398	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		22	92	0	0	0	0.002299	0	22	92				
LRP2	4036	broad.mit.edu	37	2	170101223	170101223	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:170101223C>T	ENST00000263816.3	-	22	3695	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	LRP2_ENST00000443831.1_Missense_Mutation_p.G1000E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1137	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCATCAGATCCATCCCCACA	0.458																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3409-3411)GGA>GAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						161.0	149.0	153.0					2																	170101223		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101223C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3410G>A	2.37:g.170101223C>T	ENSP00000263816:p.Gly1137Glu					LRP2_uc010zdf.1_Missense_Mutation_p.G1000E	p.G1137E	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3623	-			1137			LDL-receptor class A 10.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3410G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399706	0.96030	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96491	-4.03;-4.03	5.93	5.93	0.95920	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.050893	0.85682	D	0.000000	D	0.98270	0.9427	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.99	D	0.98190	1.0462	10	0.54805	T	0.06	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1000;1137	E9PC35;P98164	.;LRP2_HUMAN	E	1137;1000	ENSP00000263816:G1137E;ENSP00000409813:G1000E	ENSP00000263816:G1137E	G	-	2	0	LRP2	169809469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.760000	0.85248	2.805000	0.96524	0.655000	0.94253	GGA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		26	105	0	0	0	0.005443	0	26	105				
HAT1	8520	broad.mit.edu	37	2	172809466	172809466	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:172809466A>C	ENST00000264108.4	+	4	292	c.256A>C	c.(256-258)Atg>Ctg	p.M86L	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Start_Codon_SNP_p.M1L	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	86					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCTGTCAACAATGTTCCGTGT	0.318																																							uc002uhi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(256-258)ATG>CTG		histone acetyltransferase 1							116.0	113.0	114.0					2																	172809466		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172809466A>C	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.256A>C	2.37:g.172809466A>C	ENSP00000264108:p.Met86Leu					HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Missense_Mutation_p.M1L	p.M86L	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	332	+			86					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.256A>C	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044428	0.08196	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	4.93	2.26	0.28386	Histone acetyl transferase HAT1 N-terminal (2);Acyl-CoA N-acyltransferase (1);	0.152021	0.64402	N	0.000012	T	0.19846	0.0477	N	0.00419	-1.52	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11616	-1.0580	9	0.87932	D	0	-38.6905	11.768	0.51941	0.5968:0.4032:0.0:0.0	.	86	O14929	HAT1_HUMAN	L	1;86	.	ENSP00000264108:M86L	M	+	1	0	HAT1	172517712	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.404000	0.44539	0.790000	0.33803	0.379000	0.24179	ATG		0.318	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		11	45	0	0	0	0.001368	0	11	45				
ITGA6	3655	broad.mit.edu	37	2	173352323	173352323	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:173352323T>C	ENST00000264106.6	+	17	2529	c.2326T>C	c.(2326-2328)Tgt>Cgt	p.C776R	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.C732R|ITGA6_ENST00000409080.1_Missense_Mutation_p.C737R|ITGA6_ENST00000264107.7_Missense_Mutation_p.C737R|ITGA6_ENST00000375221.2_Missense_Mutation_p.C776R|ITGA6_ENST00000409532.1_Missense_Mutation_p.C618R			P23229	ITA6_HUMAN	integrin, alpha 6	776					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAAGCTGACTGTGAGCTCGG	0.403																																							uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(2209-2211)TGT>CGT		integrin alpha chain, alpha 6 isoform a							70.0	72.0	71.0					2																	173352323		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173352323T>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2326T>C	2.37:g.173352323T>C	ENSP00000264106:p.Cys776Arg					ITGA6_uc010zdy.1_Missense_Mutation_p.C618R|ITGA6_uc002uho.1_Missense_Mutation_p.C737R|ITGA6_uc010fqm.1_Missense_Mutation_p.C383R	p.C737R	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		16	2412	+			776			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2209T>C		.	.	.	.	.	.	.	.	.	.	T	22.3	4.271023	0.80469	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.93184	0.6577	10	0.87932	D	0	.	15.8135	0.78581	0.0:0.0:0.0:1.0	.	732;776;737;737	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	R	618;737;776;776;732;737;776;732	ENSP00000386614:C618R;ENSP00000264107:C737R;ENSP00000264106:C776R;ENSP00000364369:C776R;ENSP00000341078:C732R;ENSP00000386896:C737R;ENSP00000406694:C776R;ENSP00000394169:C732R	ENSP00000264106:C776R	C	+	1	0	ITGA6	173060569	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.357000	0.79456	2.118000	0.64928	0.533000	0.62120	TGT		0.403	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				10	59	0	0	0	0.006214	0	10	59				
RAPGEF4	11069	broad.mit.edu	37	2	173891410	173891410	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:173891410C>T	ENST00000397081.3	+	24	2507	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	RAPGEF4_ENST00000409036.1_Silent_p.F788F|RAPGEF4_ENST00000264111.6_Silent_p.F787F|RAPGEF4_ENST00000540783.1_Silent_p.F635F|RAPGEF4_ENST00000539331.1_Silent_p.F635F|RAPGEF4_ENST00000538974.1_Silent_p.F617F|RAPGEF4_ENST00000397087.3_Silent_p.F644F|RAPGEF4_ENST00000535187.1_Silent_p.F568F	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	788	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGGAACTCTTCAACTGCGTGC	0.428																																							uc002uhv.3		NA																	0				large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2362-2364)TTC>TTT		Rap guanine nucleotide exchange factor (GEF) 4							120.0	107.0	111.0					2																	173891410		1948	4163	6111	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891410C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2364C>T	2.37:g.173891410C>T						RAPGEF4_uc002uhw.3_Silent_p.F644F	p.F788F	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		24	2551	+			788			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.2364C>T	CCDS42775.1																																																																																				0.428	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		17	67	0	0	0	0.006122	0	17	67				
EVX2	344191	broad.mit.edu	37	2	176948612	176948612	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:176948612T>C	ENST00000308618.4	-	0	29					NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2						limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TAAATATTATTATCGCTTTCG	0.493																																							uc010zeu.1		NA																	0				ovary(2)	2						c.(-109--105)ATAAT>ATGAT		even-skipped homeobox 2																																						344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948612T>C		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.-108A>G	2.37:g.176948612T>C								NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	79	-									Translation_Start_Site	SNP	ENST00000308618.4	37	c.-107A>G	CCDS33333.1																																																																																				0.493	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			5	7	0	0	0	0.000602	0	5	7				
FKBP7	51661	broad.mit.edu	37	2	179341873	179341873	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179341873C>T	ENST00000424785.2	-	2	347	c.289G>A	c.(289-291)Gac>Aac	p.D97N	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97N	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATAGCAATGTCTAGGCCTTTT	0.398																																					Melanoma(26;682 927 5286 17599 46613)	Melanoma(26;682 927 5286 17599 46613)	uc002umk.2		NA																	0					0						c.(289-291)GAC>AAC		FK506 binding protein 7 isoform a precursor							91.0	91.0	91.0					2																	179341873		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341873C>T	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.289G>A	2.37:g.179341873C>T	ENSP00000413152:p.Asp97Asn					FKBP7_uc002umm.2_Missense_Mutation_p.D97N|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Missense_Mutation_p.D93N	p.D97N	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	418	-			97			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.289G>A	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026371	0.93518	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58940	0.3;0.3	5.82	4.94	0.65067	.	0.042037	0.85682	D	0.000000	T	0.77644	0.4161	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.984;1.0	T	0.81705	-0.0811	10	0.87932	D	0	-2.8742	16.3936	0.83548	0.1327:0.8673:0.0:0.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	N	97	ENSP00000413152:D97N;ENSP00000415486:D97N	ENSP00000233092:D97N	D	-	1	0	FKBP7	179050119	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	7.487000	0.81328	1.451000	0.47736	0.563000	0.77884	GAC		0.398	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		6	76	0	0	0	0.001168	0	6	76				
TTN	7273	broad.mit.edu	37	2	179402290	179402290	+	Missense_Mutation	SNP	C	C	T	rs373182320		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179402290C>T	ENST00000591111.1	-	305	94945	c.94721G>A	c.(94720-94722)cGg>cAg	p.R31574Q	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33215Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24275Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24342Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30647Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24150Q			Q8WZ42	TITIN_HUMAN	titin	31574					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATGAAGCCGAAGTGTGGA	0.433																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(91939-91941)CGG>CAG		titin isoform N2-A		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3752		0,0,1876	85.0	82.0	83.0		72449,91940,72824,73025	5.9	1.0	2		83	1,8209		0,1,4104	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,5980	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	24150/26927,30647/33424,24275/27052,24342/27119	179402290	1,11961	1876	4105	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402290C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94721G>A	2.37:g.179402290C>T	ENSP00000465570:p.Arg31574Gln					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24342Q|TTN_uc010zfi.1_Missense_Mutation_p.R24275Q|TTN_uc010zfj.1_Missense_Mutation_p.R24150Q	p.R30647Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	92164	-			31574					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91940G>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.310116	0.81358	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.89	5.89	0.94794	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61664	0.2365	L	0.46885	1.475	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.61098	-0.7131	9	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	24150;24275;24342;31574	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	30647;24150;24342;24275;24147	ENSP00000343764:R30647Q;ENSP00000434586:R24150Q;ENSP00000340554:R24342Q;ENSP00000352154:R24275Q	ENSP00000340554:R24342Q	R	-	2	0	TTN	179110536	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	31	0	0	0	0.00308	0	7	31				
TTN	7273	broad.mit.edu	37	2	179428787	179428787	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179428787T>C	ENST00000591111.1	-	276	77373	c.77149A>G	c.(77149-77151)Aag>Gag	p.K25717E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K27358E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K18418E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K18485E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24790E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K18293E			Q8WZ42	TITIN_HUMAN	titin	25717	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAGACTTTGTACCACCA	0.418																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74368-74370)AAG>GAG		titin isoform N2-A							137.0	134.0	135.0					2																	179428787		1858	4106	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428787T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77149A>G	2.37:g.179428787T>C	ENSP00000465570:p.Lys25717Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K18485E|TTN_uc010zfi.1_Missense_Mutation_p.K18418E|TTN_uc010zfj.1_Missense_Mutation_p.K18293E	p.K24790E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74592	-			25717					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74368A>G		.	.	.	.	.	.	.	.	.	.	T	13.09	2.132100	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.16	4.98	0.66077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54581	0.1867	L	0.38692	1.165	0.54753	D	0.999986	B;B;B;B	0.25048	0.117;0.117;0.117;0.067	B;B;B;B	0.29524	0.103;0.103;0.103;0.072	T	0.54180	-0.8332	9	0.87932	D	0	.	12.6088	0.56540	0.0:0.0649:0.0:0.9351	.	18293;18418;18485;25717	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	24790;18293;18485;18418;18291	ENSP00000343764:K24790E;ENSP00000434586:K18293E;ENSP00000340554:K18485E;ENSP00000352154:K18418E	ENSP00000340554:K18485E	K	-	1	0	TTN	179137033	1.000000	0.71417	0.859000	0.33776	0.995000	0.86356	8.040000	0.89188	1.108000	0.41662	0.528000	0.53228	AAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	125	0	0	0	0.009535	0	32	125				
TTN	7273	broad.mit.edu	37	2	179457128	179457128	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179457128G>A	ENST00000591111.1	-	251	54905	c.54681C>T	c.(54679-54681)gtC>gtT	p.V18227V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.V19868V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V10928V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Silent_p.V10995V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V17300V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.V10803V			Q8WZ42	TITIN_HUMAN	titin	18227	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTACTGAGACAGTTTTTG	0.323																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51898-51900)GTC>GTT		titin isoform N2-A							127.0	123.0	124.0					2																	179457128		1829	4072	5901	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457128G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54681C>T	2.37:g.179457128G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V10995V|TTN_uc010zfi.1_Silent_p.V10928V|TTN_uc010zfj.1_Silent_p.V10803V	p.V17300V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52124	-			18227					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.51900C>T																																																																																					0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	132	0	0	0	0.003163	0	15	132				
TTN	7273	broad.mit.edu	37	2	179468719	179468719	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179468719T>G	ENST00000591111.1	-	232	49996	c.49772A>C	c.(49771-49773)aAt>aCt	p.N16591T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N18232T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N9292T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N9359T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N15664T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N9167T			Q8WZ42	TITIN_HUMAN	titin	16591	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGAGGAACATTAAATTCCAC	0.468																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46990-46992)AAT>ACT		titin isoform N2-A							228.0	223.0	225.0					2																	179468719		1909	4123	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468719T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49772A>C	2.37:g.179468719T>G	ENSP00000465570:p.Asn16591Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N9359T|TTN_uc010zfi.1_Missense_Mutation_p.N9292T|TTN_uc010zfj.1_Missense_Mutation_p.N9167T	p.N15664T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47215	-			16591					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46991A>C		.	.	.	.	.	.	.	.	.	.	T	10.46	1.355854	0.24598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	6.06	2.34	0.29019	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15782	0.0380	N	0.00517	-1.405	0.34739	D	0.730594	B;B;B;B	0.16166	0.016;0.016;0.016;0.016	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.08207	-1.0733	9	0.87932	D	0	.	5.9039	0.18982	0.0:0.1989:0.1277:0.6734	.	9167;9292;9359;16591	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15664;9167;9359;9292;9167	ENSP00000343764:N15664T;ENSP00000434586:N9167T;ENSP00000340554:N9359T;ENSP00000352154:N9292T	ENSP00000340554:N9359T	N	-	2	0	TTN	179176964	1.000000	0.71417	0.889000	0.34880	0.800000	0.45204	1.728000	0.38105	0.161000	0.19458	0.528000	0.53228	AAT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	225	0	0	0	0.00361	0	49	225				
TTN	7273	broad.mit.edu	37	2	179468741	179468741	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179468741C>T	ENST00000591111.1	-	232	49974	c.49750G>A	c.(49750-49752)Gga>Aga	p.G16584R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G18225R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9285R|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9352R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15657R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9160R			Q8WZ42	TITIN_HUMAN	titin	16584	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTCAATCCCACTTTGGTT	0.473																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46969-46971)GGA>AGA		titin isoform N2-A							266.0	259.0	261.0					2																	179468741		1895	4126	6021	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468741C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49750G>A	2.37:g.179468741C>T	ENSP00000465570:p.Gly16584Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9352R|TTN_uc010zfi.1_Missense_Mutation_p.G9285R|TTN_uc010zfj.1_Missense_Mutation_p.G9160R	p.G15657R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47193	-			16584					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46969G>A		.	.	.	.	.	.	.	.	.	.	C	14.29	2.491184	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60090	0.2242	L	0.41027	1.25	0.41441	D	0.987929	D;D;D;D	0.63880	0.982;0.982;0.982;0.993	P;P;P;D	0.65874	0.906;0.906;0.906;0.939	T	0.60677	-0.7216	9	0.87932	D	0	.	16.2422	0.82418	0.1405:0.8595:0.0:0.0	.	9160;9285;9352;16584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15657;9160;9352;9285;9160	ENSP00000343764:G15657R;ENSP00000434586:G9160R;ENSP00000340554:G9352R;ENSP00000352154:G9285R	ENSP00000340554:G9352R	G	-	1	0	TTN	179176986	0.993000	0.37304	0.935000	0.37517	0.933000	0.57130	4.883000	0.63128	2.880000	0.98712	0.650000	0.86243	GGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	266	0	0	0	0.00361	0	55	266				
TTN	7273	broad.mit.edu	37	2	179593385	179593385	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179593385T>A	ENST00000591111.1	-	64	18541	c.18317A>T	c.(18316-18318)aAa>aTa	p.K6106I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K6423I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K5179I|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12893	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTATTTGTTTCCCGTCTTT	0.403																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15535-15537)AAA>ATA		titin isoform N2-A							99.0	88.0	91.0					2																	179593385		1849	4097	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593385T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18317A>T	2.37:g.179593385T>A	ENSP00000465570:p.Lys6106Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1840I	p.K5179I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	15760	-			6106					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15536A>T		.	.	.	.	.	.	.	.	.	.	T	10.04	1.240757	0.22711	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.63	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73434	0.3586	M	0.67953	2.075	0.80722	D	1	P	0.46512	0.879	P	0.55824	0.785	T	0.75687	-0.3231	9	0.87932	D	0	.	8.1385	0.31069	0.0:0.1795:0.0:0.8205	.	6106	Q8WZ42	TITIN_HUMAN	I	5179	ENSP00000343764:K5179I	ENSP00000343764:K5179I	K	-	2	0	TTN	179301630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.765000	0.38481	2.281000	0.76405	0.533000	0.62120	AAA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	40	0	0	0	0.00308	0	8	40				
SESTD1	91404	broad.mit.edu	37	2	180008389	180008389	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:180008389C>T	ENST00000428443.3	-	9	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	260							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCTGGTAGCGGGTATATTG	0.438																																							uc002uni.3		NA																	0				ovary(1)	1						c.(778-780)CGC>CAC		SEC14 and spectrin domains 1							157.0	153.0	155.0					2																	180008389		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008389C>T	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.779G>A	2.37:g.180008389C>T	ENSP00000415332:p.Arg260His						p.R260H	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	929	-			260					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.779G>A	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773535	0.49786	.	.	ENSG00000187231	ENST00000428443	T	0.35605	1.3	6.07	6.07	0.98685	.	0.043528	0.85682	D	0.000000	T	0.28034	0.0691	N	0.14661	0.345	0.53005	D	0.999963	P	0.50943	0.94	B	0.42422	0.387	T	0.02138	-1.1207	9	.	.	.	-9.5541	20.6593	0.99626	0.0:1.0:0.0:0.0	.	260	Q86VW0	SESD1_HUMAN	H	260	ENSP00000415332:R260H	.	R	-	2	0	SESTD1	179716634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.634000	0.54302	2.885000	0.99019	0.655000	0.94253	CGC		0.438	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		6	109	0	0	0	0.001984	0	6	109				
CERKL	375298	broad.mit.edu	37	2	182438611	182438611	+	Splice_Site	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:182438611C>A	ENST00000339098.5	-	3	481	c.482G>T	c.(481-483)gGc>gTc	p.G161V	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000374970.2_Splice_Site_p.G161V|CERKL_ENST00000410087.3_Splice_Site_p.G161V			Q49MI3	CERKL_HUMAN	ceramide kinase-like	161					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTGGAAAGCCTAAGAAGAA	0.338																																							uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(481-483)GGC>GTC		ceramide kinase-like isoform b							68.0	76.0	73.0					2																	182438611		2202	4298	6500	SO:0001630	splice_region_variant	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182438611C>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.482-1G>T	2.37:g.182438611C>A						CERKL_uc002uny.2_Missense_Mutation_p.G161V|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.G161V|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.G161V	p.G161V	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		3	583	-			161					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.482G>T	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989825	0.35131	.	.	ENSG00000188452	ENST00000410087;ENST00000339098;ENST00000374970	T;T;T	0.32272	2.18;2.45;1.46	5.94	4.88	0.63580	.	0.066730	0.56097	D	0.000021	T	0.39064	0.1064	L	0.32530	0.975	0.80722	D	1	B;D;D	0.61080	0.222;0.968;0.989	B;P;P	0.56398	0.031;0.75;0.797	T	0.09862	-1.0655	10	0.54805	T	0.06	.	16.0241	0.80528	0.0:0.9256:0.0:0.0744	.	161;161;161	Q49MI3-3;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	V	161	ENSP00000386725:G161V;ENSP00000341159:G161V;ENSP00000364109:G161V	ENSP00000341159:G161V	G	-	2	0	CERKL	182146856	0.993000	0.37304	1.000000	0.80357	0.850000	0.48378	3.101000	0.50283	2.822000	0.97130	0.557000	0.71058	GGC		0.338	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		Missense_Mutation	12	61	1	0	1.05317e-09	0.00245	1.25014e-09	12	61				
NCKAP1	10787	broad.mit.edu	37	2	183848087	183848087	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:183848087C>T	ENST00000361354.4	-	11	1400	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R349H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	343					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R349L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAAAAACTTGCGTCTTTCTCT	0.343																																							uc002upc.2		NA																	1	Substitution - Missense(1)	p.R349L(1)	ovary(1)	ovary(2)	2						c.(1027-1029)CGC>CAC		NCK-associated protein 1 isoform 1							107.0	103.0	105.0					2																	183848087		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183848087C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1028G>A	2.37:g.183848087C>T	ENSP00000355348:p.Arg343His					NCKAP1_uc002upb.2_Missense_Mutation_p.R349H	p.R343H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		11	1430	-			343					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1028G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390589	0.95988	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57595	0.39;0.39	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.932	T	0.81600	-0.0859	10	0.87932	D	0	-6.3069	18.7206	0.91691	0.0:1.0:0.0:0.0	.	343;349	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	343;349	ENSP00000355348:R343H;ENSP00000354251:R349H	ENSP00000354251:R349H	R	-	2	0	NCKAP1	183556332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.417000	0.82017	0.555000	0.69702	CGC		0.343	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		10	48	0	0	0	0.001855	0	10	48				
FAM171B	165215	broad.mit.edu	37	2	187627130	187627130	+	Missense_Mutation	SNP	C	C	G	rs142301733	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:187627130C>G	ENST00000304698.5	+	8	2264	c.2061C>G	c.(2059-2061)caC>caG	p.H687Q		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	687						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGTGAGGCACTCCTTTATAG	0.522																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2059-2061)CAC>CAG		KIAA1946							65.0	68.0	67.0					2																	187627130		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627130C>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2061C>G	2.37:g.187627130C>G	ENSP00000304108:p.His687Gln					FAM171B_uc002upr.1_Missense_Mutation_p.H654Q|FAM171B_uc002upt.2_Missense_Mutation_p.H156Q	p.H687Q	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2173	+			687			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2061C>G	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106366	0.56291	.	.	ENSG00000144369	ENST00000304698	T	0.56941	0.43	6.02	0.346	0.16017	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.62723	1.935	0.52501	D	0.999952	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.62812	-0.6775	10	0.87932	D	0	-19.3621	9.8408	0.40998	0.0:0.2646:0.0:0.7354	.	687;688	Q6P995;A8K122	F171B_HUMAN;.	Q	687	ENSP00000304108:H687Q	ENSP00000304108:H687Q	H	+	3	2	FAM171B	187335375	0.953000	0.32496	0.995000	0.50966	0.998000	0.95712	0.058000	0.14301	-0.148000	0.11234	0.650000	0.86243	CAC		0.522	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		37	53	0	0	0	0.004878	0	37	53				
ZSWIM2	151112	broad.mit.edu	37	2	187702270	187702270	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:187702270C>A	ENST00000295131.2	-	5	545	c.506G>T	c.(505-507)gGc>gTc	p.G169V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	169					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATACTATTGCCACAGCCAAA	0.289																																							uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(505-507)GGC>GTC		zinc finger, SWIM domain containing 2							59.0	62.0	61.0					2																	187702270		2203	4297	6500	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702270C>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.506G>T	2.37:g.187702270C>A	ENSP00000295131:p.Gly169Val						p.G169V	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	546	-			169			RING-type 1.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.506G>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771850	0.69992	.	.	ENSG00000163012	ENST00000295131	T	0.62788	0.0	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.56097	D	0.000035	D	0.82595	0.5071	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85108	0.0961	10	0.87932	D	0	-10.616	17.3303	0.87261	0.0:1.0:0.0:0.0	.	169	Q8NEG5	ZSWM2_HUMAN	V	169	ENSP00000295131:G169V	ENSP00000295131:G169V	G	-	2	0	ZSWIM2	187410515	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	5.666000	0.68059	2.835000	0.97688	0.591000	0.81541	GGC		0.289	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		11	40	1	0	1.5842e-08	0.001855	1.83838e-08	11	40				
PMS1	5378	broad.mit.edu	37	2	190738243	190738243	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:190738243A>T	ENST00000441310.2	+	12	2728	c.2495A>T	c.(2494-2496)tAc>tTc	p.Y832F	PMS1_ENST00000432292.3_Missense_Mutation_p.Y656F|PMS1_ENST00000418224.3_Missense_Mutation_p.Y656F|PMS1_ENST00000447232.2_Missense_Mutation_p.Y670F|PMS1_ENST00000409823.3_Missense_Mutation_p.Y793F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	832					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACTGAAAATTACTTGGAAATA	0.279			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															uc002urh.3		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2494-2496)TAC>TTC	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							36.0	40.0	39.0					2																	190738243		2201	4295	6496	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190738243A>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2495A>T	2.37:g.190738243A>T	ENSP00000406490:p.Tyr832Phe					PMS1_uc002urk.3_Missense_Mutation_p.Y793F|PMS1_uc002uri.3_Missense_Mutation_p.Y670F|PMS1_uc010zgc.1_Missense_Mutation_p.Y656F|PMS1_uc010zgd.1_Missense_Mutation_p.Y656F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.T665S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.Y455F|PMS1_uc002urm.2_RNA	p.Y832F	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		12	3024	+			832					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2495A>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043933	0.36085	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	D;D;D;D;D;D;T	0.96334	-2.29;-1.98;-2.45;-2.82;-1.98;-3.98;1.95	5.97	-3.85	0.04243	.	0.471089	0.26377	N	0.024726	D	0.89860	0.6837	L	0.54323	1.7	0.21445	N	0.999684	B;B;B;B	0.15141	0.012;0.002;0.0;0.001	B;B;B;B	0.12837	0.008;0.003;0.001;0.002	T	0.77800	-0.2452	10	0.11485	T	0.65	4.344	1.0018	0.01479	0.4391:0.1095:0.2405:0.2109	.	455;793;670;832	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	F	832;656;793;670;656;455;220	ENSP00000406490:Y832F;ENSP00000404492:Y656F;ENSP00000387125:Y793F;ENSP00000401064:Y670F;ENSP00000398378:Y656F;ENSP00000387169:Y455F;ENSP00000396232:Y220F	ENSP00000387169:Y455F	Y	+	2	0	PMS1	190446488	0.997000	0.39634	0.687000	0.30102	0.903000	0.53119	0.818000	0.27295	-0.665000	0.05317	-0.344000	0.07964	TAC		0.279	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			14	34	0	0	0	0.00499	0	14	34				
DNAH7	56171	broad.mit.edu	37	2	196661411	196661411	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:196661411C>T	ENST00000312428.6	-	56	10504	c.10404G>A	c.(10402-10404)ggG>ggA	p.G3468G	DNAH7_ENST00000409063.1_5'Flank	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3468	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGCAATGGGCCCTTGGCCTT	0.408																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10402-10404)GGG>GGA		dynein, axonemal, heavy chain 7							83.0	79.0	80.0					2																	196661411		1873	4093	5966	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196661411C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10404G>A	2.37:g.196661411C>T						DNAH7_uc002uti.3_5'Flank	p.G3468G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			56	10505	-			3468			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.10404G>A	CCDS42794.1																																																																																				0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	28	0	0	0	0.004482	0	8	28				
DNAH7	56171	broad.mit.edu	37	2	196749432	196749432	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:196749432T>A	ENST00000312428.6	-	35	5740	c.5640A>T	c.(5638-5640)ccA>ccT	p.P1880P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1880					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATCTGAAATTGGACTTTCCA	0.363																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(5638-5640)CCA>CCT		dynein, axonemal, heavy chain 7							115.0	106.0	109.0					2																	196749432		1864	4103	5967	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196749432T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5640A>T	2.37:g.196749432T>A							p.P1880P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			35	5741	-			1880					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5640A>T	CCDS42794.1																																																																																				0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		17	56	0	0	0	0.00499	0	17	56				
SGOL2	151246	broad.mit.edu	37	2	201437494	201437494	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201437494A>G	ENST00000357799.4	+	7	2523	c.2425A>G	c.(2425-2427)Aga>Gga	p.R809G		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	809					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAAGAAGCCTAGACTAAATGT	0.333																																							uc002uvw.2		NA																	0				ovary(2)|skin(2)	4						c.(2425-2427)AGA>GGA		shugoshin-like 2 isoform 1							79.0	74.0	76.0					2																	201437494		1833	4077	5910	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437494A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2425A>G	2.37:g.201437494A>G	ENSP00000350447:p.Arg809Gly					SGOL2_uc010zhd.1_Missense_Mutation_p.R809G|SGOL2_uc010zhe.1_Missense_Mutation_p.R809G	p.R809G	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2538	+			809					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2425A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999730	0.19121	.	.	ENSG00000163535	ENST00000357799	T	0.23754	1.89	4.91	0.936	0.19488	.	0.396861	0.21802	N	0.068910	T	0.37376	0.1001	M	0.72894	2.215	0.80722	D	1	D;P;D	0.63046	0.972;0.925;0.992	P;P;P	0.56563	0.797;0.691;0.801	T	0.14172	-1.0482	10	0.72032	D	0.01	-4.3529	6.8983	0.24269	0.5827:0.2824:0.0:0.1348	.	809;809;809	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	G	809	ENSP00000350447:R809G	ENSP00000350447:R809G	R	+	1	2	SGOL2	201145739	0.181000	0.23161	0.980000	0.43619	0.001000	0.01503	0.221000	0.17680	0.099000	0.17552	-1.887000	0.00540	AGA		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		15	58	0	0	0	0.004007	0	15	58				
AOX1	316	broad.mit.edu	37	2	201485502	201485502	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201485502T>C	ENST00000374700.2	+	17	2075	c.1834T>C	c.(1834-1836)Ttg>Ctg	p.L612L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	612					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGAACTTTTCTTGACTTTTGT	0.453																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1834-1836)TTG>CTG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						143.0	127.0	133.0					2																	201485502		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201485502T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1834T>C	2.37:g.201485502T>C						AOX1_uc010zhf.1_Silent_p.L168L|AOX1_uc010fsu.2_Intron	p.L612L	NM_001159	NP_001150	Q06278	ADO_HUMAN			17	1935	+			612					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1834T>C	CCDS33360.1																																																																																				0.453	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		9	45	0	0	0	0.006214	0	9	45				
AOX1	316	broad.mit.edu	37	2	201507471	201507471	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201507471A>G	ENST00000374700.2	+	25	3035	c.2794A>G	c.(2794-2796)Acc>Gcc	p.T932A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	932					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGCGCTGATCACCGAATCTTG	0.493																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2794-2796)ACC>GCC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						89.0	82.0	85.0					2																	201507471		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201507471A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2794A>G	2.37:g.201507471A>G	ENSP00000363832:p.Thr932Ala					AOX1_uc010zhf.1_Missense_Mutation_p.T488A|AOX1_uc010fsu.2_Missense_Mutation_p.T298A	p.T932A	NM_001159	NP_001150	Q06278	ADO_HUMAN			25	2895	+			932					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2794A>G	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.230414	0.01518	.	.	ENSG00000138356	ENST00000374700	T	0.35048	1.33	5.17	5.17	0.71159	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.370264	0.30519	N	0.009443	T	0.19525	0.0469	N	0.11845	0.185	0.28900	N	0.893328	B	0.13594	0.008	B	0.16289	0.015	T	0.09058	-1.0692	10	0.02654	T	1	-17.2672	15.1736	0.72894	1.0:0.0:0.0:0.0	.	932	Q06278	ADO_HUMAN	A	932	ENSP00000363832:T932A	ENSP00000363832:T932A	T	+	1	0	AOX1	201215716	0.999000	0.42202	0.935000	0.37517	0.066000	0.16364	4.854000	0.62918	2.176000	0.68965	0.448000	0.29417	ACC		0.493	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		17	56	0	0	0	0.010504	0	17	56				
ALS2	57679	broad.mit.edu	37	2	202626489	202626489	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:202626489C>A	ENST00000264276.6	-	4	600	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.E76D	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	76					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTGGACAAATCTCCACTGGTC	0.423																																							uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(226-228)GAG>GAT		alsin isoform 1							95.0	90.0	92.0					2																	202626489		1857	4095	5952	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626489C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.228G>T	2.37:g.202626489C>A	ENSP00000264276:p.Glu76Asp					ALS2_uc002uyp.3_Missense_Mutation_p.E76D|ALS2_uc002uyq.2_Missense_Mutation_p.E76D|ALS2_uc002uyr.2_Missense_Mutation_p.E76D	p.E76D	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			4	584	-			76			RCC1 1.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.228G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801341	0.16397	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	6.07	3.21	0.36854	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.164709	0.53938	D	0.000054	T	0.67859	0.2938	L	0.42245	1.32	0.09310	N	0.999997	B;B;B;B	0.22683	0.073;0.037;0.007;0.007	B;B;B;B	0.24155	0.051;0.024;0.002;0.004	T	0.49744	-0.8907	10	0.13470	T	0.59	.	5.3094	0.15821	0.13:0.5507:0.0:0.3193	.	76;76;76;76	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	D	76	ENSP00000264276:E76D;ENSP00000429223:E76D;ENSP00000386384:E76D;ENSP00000386948:E76D	ENSP00000264276:E76D	E	-	3	2	ALS2	202334734	0.011000	0.17503	0.677000	0.29947	0.405000	0.30901	0.151000	0.16283	0.384000	0.24942	-0.119000	0.15052	GAG		0.423	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		25	107	1	0	3.28513e-13	0.003954	4.06232e-13	25	107				
FASTKD2	22868	broad.mit.edu	37	2	207631781	207631781	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:207631781C>T	ENST00000236980.6	+	2	712	c.364C>T	c.(364-366)Cct>Tct	p.P122S	MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.P122S|FASTKD2_ENST00000403094.3_Missense_Mutation_p.P122S	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	122					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTCTCTTGTCCCTGTTGATAA	0.363																																							uc002vbu.2		NA																	0				ovary(2)|skin(1)	3						c.(364-366)CCT>TCT		FAST kinase domains 2							47.0	49.0	49.0					2																	207631781		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631781C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.364C>T	2.37:g.207631781C>T	ENSP00000236980:p.Pro122Ser					MDH1B_uc010ziw.1_5'Flank|MDH1B_uc002vbs.2_5'Flank|MDH1B_uc010fui.2_5'Flank|MDH1B_uc010fuj.2_5'Flank|MDH1B_uc002vbt.2_5'Flank|FASTKD2_uc002vbv.2_Missense_Mutation_p.P122S|FASTKD2_uc002vbx.2_Missense_Mutation_p.P122S|FASTKD2_uc002vbw.1_Missense_Mutation_p.P122S	p.P122S	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	774	+			122					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.364C>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.454795	0.00173	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.42900	2.77;0.96;2.77;2.77	5.07	1.42	0.22433	.	1.545300	0.03869	N	0.275305	T	0.12390	0.0301	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36089	-0.9762	10	0.02654	T	1	-2.1792	4.3243	0.11032	0.1394:0.2415:0.0:0.6192	.	122;122	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	S	122	ENSP00000236980:P122S;ENSP00000409927:P122S;ENSP00000385990:P122S;ENSP00000384929:P122S	ENSP00000236980:P122S	P	+	1	0	FASTKD2	207340026	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.786000	0.04623	0.103000	0.17682	-0.340000	0.08031	CCT		0.363	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		19	30	0	0	0	0.006122	0	19	30				
CPO	130749	broad.mit.edu	37	2	207804357	207804357	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:207804357G>T	ENST00000272852.3	+	1	80	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	12						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTATCTTTTGGGGATGCTGGT	0.418																																							uc002vby.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(34-36)GGG>TGG		carboxypeptidase O precursor							164.0	163.0	164.0					2																	207804357		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207804357G>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.34G>T	2.37:g.207804357G>T	ENSP00000272852:p.Gly12Trp						p.G12W	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	1	80	+			12					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.34G>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687684	0.29962	.	.	ENSG00000144410	ENST00000272852	T	0.15952	2.38	4.59	0.503	0.16940	.	0.658683	0.12833	N	0.435493	T	0.09468	0.0233	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.28996	-1.0026	10	0.66056	D	0.02	.	3.7582	0.08593	0.188:0.0:0.4786:0.3334	.	12	Q8IVL8	CBPO_HUMAN	W	12	ENSP00000272852:G12W	ENSP00000272852:G12W	G	+	1	0	CPO	207512602	0.986000	0.35501	0.004000	0.12327	0.504000	0.33889	1.186000	0.32078	-0.022000	0.13986	0.484000	0.47621	GGG		0.418	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		22	105	1	0	8.24728e-16	0.004656	1.03842e-15	22	105				
KANSL1L	151050	broad.mit.edu	37	2	210993811	210993811	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:210993811G>A	ENST00000281772.9	-	3	1437	c.1174C>T	c.(1174-1176)Cta>Tta	p.L392L	KANSL1L_ENST00000457374.1_Silent_p.L392L|KANSL1L_ENST00000418791.1_Silent_p.L392L|KANSL1L_ENST00000452086.1_Silent_p.L392L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	392						histone acetyltransferase complex (GO:0000123)											TTGCATTCTAGGTCTGAAATC	0.408																																							uc002vds.2		NA																	0				ovary(3)	3						c.(1174-1176)CTA>TTA		hypothetical protein LOC151050							191.0	169.0	176.0					2																	210993811		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:210993811G>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1174C>T	2.37:g.210993811G>A						C2orf67_uc002vdt.2_Silent_p.L392L|C2orf67_uc002vdw.2_Silent_p.L392L|C2orf67_uc002vdv.2_Silent_p.L392L|C2orf67_uc002vdx.1_Silent_p.L392L	p.L392L	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	3	1382	-		Renal(323;0.202)	392					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.1174C>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	8.313	0.822615	0.16678	.	.	ENSG00000144445	ENST00000428655	.	.	.	5.52	3.73	0.42828	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59327	-0.7475	4	.	.	.	.	12.1371	0.53977	0.1395:0.0:0.8605:0.0	.	.	.	.	L	86	.	.	P	-	2	0	C2orf67	210702056	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	4.143000	0.58051	0.698000	0.31739	0.591000	0.81541	CCT		0.408	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		26	82	0	0	0	0.003954	0	26	82				
CPS1	1373	broad.mit.edu	37	2	211456690	211456690	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:211456690T>C	ENST00000233072.5	+	10	1279	c.1083T>C	c.(1081-1083)aaT>aaC	p.N361N	CPS1_ENST00000430249.2_Silent_p.N367N|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	361	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATCAAACAAATGAGGTAAATG	0.378																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1081-1083)AAT>AAC		carbamoyl-phosphate synthetase 1 isoform b							64.0	60.0	61.0					2																	211456690		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211456690T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1083T>C	2.37:g.211456690T>C						CPS1_uc010fur.2_Silent_p.N367N|CPS1_uc010fus.2_5'Flank	p.N361N	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	10	1215	+			361			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.1083T>C	CCDS2393.1																																																																																				0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			4	15	0	0	0	0.001168	0	4	15				
CPS1	1373	broad.mit.edu	37	2	211457612	211457612	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:211457612C>T	ENST00000233072.5	+	11	1292	c.1096C>T	c.(1096-1098)Cat>Tat	p.H366Y	CPS1_ENST00000430249.2_Missense_Mutation_p.H372Y|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	366	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGGGATTATGCATGAGAGCAA	0.428																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1096-1098)CAT>TAT		carbamoyl-phosphate synthetase 1 isoform b							135.0	143.0	140.0					2																	211457612		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457612C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1096C>T	2.37:g.211457612C>T	ENSP00000233072:p.His366Tyr					CPS1_uc010fur.2_Missense_Mutation_p.H372Y|CPS1_uc010fus.2_5'Flank	p.H366Y	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	11	1228	+			366			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1096C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733258	0.89482	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.90844	-2.74;-2.74	6.02	6.02	0.97574	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94975	0.8120	10	0.87932	D	0	-9.55	20.547	0.99278	0.0:1.0:0.0:0.0	.	376;366	Q59HF8;P31327	.;CPSM_HUMAN	Y	372;374;366;366	ENSP00000402608:H372Y;ENSP00000233072:H366Y	ENSP00000233072:H366Y	H	+	1	0	CPS1	211165857	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.464000	0.80887	2.850000	0.98022	0.650000	0.86243	CAT		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			30	83	0	0	0	0.002445	0	30	83				
ERBB4	2066	broad.mit.edu	37	2	212293190	212293190	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:212293190C>T	ENST00000342788.4	-	22	2972	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	ERBB4_ENST00000436443.1_Missense_Mutation_p.A888T|ERBB4_ENST00000402597.1_Missense_Mutation_p.A878T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CACTCCAGAGCCATCCATTTA	0.308										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2662-2664)GCT>ACT		v-erb-a erythroblastic leukemia viral oncogene							83.0	84.0	83.0					2																	212293190		2203	4296	6499	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212293190C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2662G>A	2.37:g.212293190C>T	ENSP00000342235:p.Ala888Thr	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.A888T|ERBB4_uc010zji.1_Missense_Mutation_p.A878T|ERBB4_uc010zjj.1_Missense_Mutation_p.A878T	p.A888T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	22	2760	-		Renal(323;0.06)|Lung NSC(271;0.197)	888			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2662G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294554	0.95546	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.78595	-1.19;-1.19;-1.19	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.046817	0.85682	D	0.000000	D	0.93154	0.7820	H	0.98238	4.18	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.982;0.986	P;D;P;P	0.77004	0.772;0.989;0.772;0.854	D	0.95157	0.8278	10	0.87932	D	0	.	19.9116	0.97026	0.0:1.0:0.0:0.0	.	878;878;888;888	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	T	888;888;878	ENSP00000342235:A888T;ENSP00000403204:A888T;ENSP00000385565:A878T	ENSP00000342235:A888T	A	-	1	0	ERBB4	212001435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.618000	0.83043	2.710000	0.92621	0.650000	0.86243	GCT		0.308	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		12	79	0	0	0	0.001855	0	12	79				
ABCA12	26154	broad.mit.edu	37	2	215876787	215876787	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:215876787G>A	ENST00000272895.7	-	16	2248	c.2029C>T	c.(2029-2031)Ctc>Ttc	p.L677F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L359F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	677					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCTGATTGAGAATCTCTTTT	0.403																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(2029-2031)CTC>TTC		ATP-binding cassette, sub-family A, member 12							229.0	220.0	223.0					2																	215876787		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876787G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2029C>T	2.37:g.215876787G>A	ENSP00000272895:p.Leu677Phe					ABCA12_uc002vev.2_Missense_Mutation_p.L359F|ABCA12_uc010zjn.1_5'UTR	p.L677F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	16	2249	-		Renal(323;0.127)	677					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2029C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807531	0.70797	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89875	-2.58;-2.58	5.58	4.7	0.59300	.	0.518137	0.17789	N	0.161959	D	0.89259	0.6664	N	0.24115	0.695	0.80722	D	1	D;D	0.63046	0.98;0.992	P;D	0.65874	0.578;0.939	D	0.89187	0.3548	10	0.62326	D	0.03	.	11.9154	0.52763	0.0:0.0:0.826:0.174	.	677;359	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	677;359	ENSP00000272895:L677F;ENSP00000374312:L359F	ENSP00000272895:L677F	L	-	1	0	ABCA12	215585032	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	3.685000	0.54678	1.340000	0.45581	0.655000	0.94253	CTC		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	164	0	0	0	0.001368	0	9	164				
PRKAG3	53632	broad.mit.edu	37	2	219691724	219691724	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:219691724T>C	ENST00000529249.1	-	10	1410	c.1095A>G	c.(1093-1095)acA>acG	p.T365T	PRKAG3_ENST00000439262.2_Silent_p.T340T|PRKAG3_ENST00000392098.3_Missense_Mutation_p.Q350R|PRKAG3_ENST00000545803.1_Silent_p.T181T			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	365	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GGATGGGTGCTGTCTCCAGCA	0.597																																							uc002vjb.1		NA																	0				ovary(1)|lung(1)	2						c.(1093-1095)ACA>ACG		AMP-activated protein kinase, non-catalytic							100.0	96.0	98.0					2																	219691724		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691724T>C	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1095A>G	2.37:g.219691724T>C						PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.Q407R	p.T365T	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1114	-		Renal(207;0.0474)	365			CBS 3.		Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.1095A>G	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750373	0.49257	.	.	ENSG00000115592	ENST00000392098	T	0.60548	0.18	5.77	-10.1	0.00402	.	.	.	.	.	T	0.44456	0.1294	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.54159	-0.8335	6	0.87932	D	0	-11.6532	4.3724	0.11255	0.2579:0.4607:0.1622:0.1192	.	.	.	.	R	350	ENSP00000375947:Q350R	ENSP00000375947:Q350R	Q	-	2	0	PRKAG3	219399968	0.000000	0.05858	0.485000	0.27403	0.852000	0.48524	-4.630000	0.00206	-1.638000	0.01529	0.533000	0.62120	CAG		0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			19	110	0	0	0	0.007413	0	19	110				
PAX3	5077	broad.mit.edu	37	2	223085040	223085040	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:223085040G>T	ENST00000350526.4	-	7	1128	c.992C>A	c.(991-993)cCt>cAt	p.P331H	PAX3_ENST00000392070.2_Missense_Mutation_p.P331H|PAX3_ENST00000409551.3_Missense_Mutation_p.P330H|PAX3_ENST00000336840.6_Missense_Mutation_p.P331H|PAX3_ENST00000344493.4_Missense_Mutation_p.P331H|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.P331H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	331					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCGGTTGAGGTCTGTGAAC	0.498			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(991-993)CCT>CAT		paired box 3 isoform PAX3							230.0	190.0	203.0					2																	223085040		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085040G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.992C>A	2.37:g.223085040G>T	ENSP00000343052:p.Pro331His					PAX3_uc002vmt.1_Missense_Mutation_p.P331H|PAX3_uc002vmy.1_Missense_Mutation_p.P330H|PAX3_uc002vmv.1_Missense_Mutation_p.P331H|PAX3_uc002vmw.1_Missense_Mutation_p.P331H|PAX3_uc002vmx.1_Missense_Mutation_p.P331H	p.P331H	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1358	-		Renal(207;0.0183)	331					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.992C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528156	0.85706	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.95307	-3.67;-3.62;-3.65;-3.64;-3.63;-3.66	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.982;0.972;0.977;0.994;0.988	D	0.95811	0.8841	10	0.46703	T	0.11	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	331;330;331;331;331	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	331;331;331;331;331;330;48;48	ENSP00000375921:P331H;ENSP00000342092:P331H;ENSP00000343052:P331H;ENSP00000375922:P331H;ENSP00000338767:P331H;ENSP00000386750:P330H	ENSP00000338767:P331H	P	-	2	0	PAX3	222793284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.685000	0.91497	0.650000	0.86243	CCT		0.498	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			19	76	1	0	1.01871e-10	0.008871	1.22324e-10	19	76				
SLC19A3	80704	broad.mit.edu	37	2	228563570	228563570	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:228563570G>A	ENST00000258403.3	-	3	932	c.861C>T	c.(859-861)ttC>ttT	p.F287F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.F283F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	287					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTGCTGTGGCGAAAGCCCACC	0.458																																							uc002vpi.2		NA																	0				ovary(2)	2						c.(859-861)TTC>TTT		solute carrier family 19, member 3	L-Cysteine(DB00151)						77.0	77.0	77.0					2																	228563570		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563570G>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.861C>T	2.37:g.228563570G>A						SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.F283F	p.F287F	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	950	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	287			Helical; (Potential).			Silent	SNP	ENST00000258403.3	37	c.861C>T	CCDS2468.1																																																																																				0.458	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			20	78	0	0	0	0.008871	0	20	78				
UGT1A10	54575	broad.mit.edu	37	2	234545503	234545503	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:234545503C>T	ENST00000344644.5	+	1	404	c.335C>T	c.(334-336)tCa>tTa	p.S112L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S112L|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	112					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TTAATGAGTTCATCCAGTGGT	0.383																																							uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(334-336)TCA>TTA		UDP glycosyltransferase 1 family, polypeptide							95.0	101.0	99.0					2																	234545503		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545503C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.335C>T	2.37:g.234545503C>T	ENSP00000343838:p.Ser112Leu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S112L	p.S112L	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	381	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	112					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.335C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.184030	0.21870	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.28	3.67	2.78	0.32641	.	.	.	.	.	T	0.35189	0.0923	N	0.11201	0.11	0.09310	N	1	B;B	0.15719	0.013;0.014	B;B	0.22880	0.026;0.042	T	0.21552	-1.0242	9	0.14252	T	0.57	.	9.644	0.39857	0.0:0.8992:0.0:0.1008	.	112;112	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	L	112	ENSP00000343838:S112L;ENSP00000362544:S112L	ENSP00000343838:S112L	S	+	2	0	UGT1A10	234210242	.	.	0.002000	0.10522	0.057000	0.15508	.	.	0.889000	0.36185	0.405000	0.27470	TCA		0.383	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		27	113	0	0	0	0.004656	0	27	113				
TRPM8	79054	broad.mit.edu	37	2	234869468	234869469	+	Missense_Mutation	DNP	CC	CC	AA	rs371717473		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:234869468_234869469CC>AA	ENST00000324695.4	+	12	1451_1452	c.1411_1412CC>AA	c.(1411-1413)CCc>AAc	p.P471N	TRPM8_ENST00000433712.2_Missense_Mutation_p.P159N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	471					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAAGGACAGACCCAAGTTTGTC	0.436																																							uc002vvh.2		NA																	0				skin(4)	4						c.(1411-1413)CCC>AAC		transient receptor potential cation channel,	Menthol(DB00825)																																			SO:0001583	missense	79054					integral to membrane		g.chr2:234869468_234869469CC>AA	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	Exception_encountered	2.37:g.234869468_234869469delinsAA	ENSP00000323926:p.Pro471Asn					TRPM8_uc010fyj.2_Missense_Mutation_p.P159N	p.P471N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1451_1452	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	471			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	DNP	ENST00000324695.4	37	c.1411_1412CC>AA	CCDS33407.1																																																																																				0.436	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		22	65	0	0	0	0.004672	0	22	65				
ASB18	401036	broad.mit.edu	37	2	237103581	237103582	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:237103581_237103582GG>TT	ENST00000409749.3	-	6	1333_1334	c.1334_1335CC>AA	c.(1333-1335)cCC>cAA	p.P445Q	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.P416Q|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	445	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AGGGTAACAGGGGGATGAGGTC	0.54																																							uc010znh.1		NA																	0				ovary(1)	1						c.(1333-1335)CCC>CAA		ankyrin repeat and SOCS box-containing 18																																				SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237103581_237103582GG>TT	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1334_1335delinsTT	2.37:g.237103581_237103582delinsTT	ENSP00000386532:p.Pro445Gln						p.P445Q	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	6	1334_1335	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	445			SOCS box.		B6ZDL7	Missense_Mutation	DNP	ENST00000409749.3	37	c.1334_1335CC>AA	CCDS46548.1																																																																																				0.540	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		4	26	0	0	0	0.004672	0	4	26				
COL6A3	1293	broad.mit.edu	37	2	238249452	238249452	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:238249452T>G	ENST00000295550.4	-	38	8559	c.8107A>C	c.(8107-8109)Agc>Cgc	p.S2703R	COL6A3_ENST00000409809.1_Missense_Mutation_p.S2497R|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2096R|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2497R|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2503R|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2502R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2703	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATTCCCCTGCTGAGGAAGTCC	0.552																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8107-8109)AGC>CGC		alpha 3 type VI collagen isoform 1 precursor							75.0	73.0	74.0					2																	238249452		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249452T>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8107A>C	2.37:g.238249452T>G	ENSP00000295550:p.Ser2703Arg					COL6A3_uc002vwo.2_Missense_Mutation_p.S2497R|COL6A3_uc010znj.1_Missense_Mutation_p.S2096R|COL6A3_uc002vwj.2_Missense_Mutation_p.S84R	p.S2703R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8392	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2703			VWFA 12.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8107A>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	4.016	0.000376	0.07819	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	5.44	-3.37	0.04898	von Willebrand factor, type A (3);	0.598001	0.16662	N	0.204735	T	0.13200	0.0320	L	0.28274	0.84	0.09310	N	1	B;B;D	0.60575	0.213;0.178;0.988	B;B;D	0.64595	0.091;0.034;0.927	T	0.18713	-1.0328	10	0.13470	T	0.59	.	4.8433	0.13501	0.1005:0.4439:0.113:0.3426	.	2096;2497;2703	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2703;2502;2497;2096;2497;2503	ENSP00000295550:S2703R;ENSP00000315609:S2502R;ENSP00000315873:S2497R;ENSP00000418285:S2096R;ENSP00000386844:S2497R;ENSP00000295546:S2503R	ENSP00000295550:S2703R	S	-	1	0	COL6A3	237914191	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	-0.264000	0.08658	-0.782000	0.04541	-0.290000	0.09829	AGC		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	81	0	0	0	0.001168	0	6	81				
AGXT	189	broad.mit.edu	37	2	241808422	241808422	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:241808422G>T	ENST00000307503.3	+	1	527	c.140G>T	c.(139-141)gGg>gTg	p.G47V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	47					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAGATGATCGGGTCCATGAGC	0.642																																							uc002waa.3		NA																	0					0						c.(139-141)GGG>GTG		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						42.0	50.0	47.0					2																	241808422		2203	4297	6500	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808422G>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.140G>T	2.37:g.241808422G>T	ENSP00000302620:p.Gly47Val					AGXT_uc010zoi.1_Missense_Mutation_p.G47V	p.G47V	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	261	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	47					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.140G>T	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362434	0.41902	.	.	ENSG00000172482	ENST00000307503	D	0.92805	-3.11	4.42	4.42	0.53409	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.052563	0.85682	D	0.000000	D	0.97399	0.9149	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99167	1.0863	10	0.87932	D	0	-27.3784	17.0374	0.86480	0.0:0.0:1.0:0.0	.	47;47	B7Z548;P21549	.;SPYA_HUMAN	V	47	ENSP00000302620:G47V	ENSP00000302620:G47V	G	+	2	0	AGXT	241457095	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	8.450000	0.90340	2.014000	0.59158	0.484000	0.47621	GGG		0.642	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		19	82	1	0	3.73194e-20	0.010504	4.80593e-20	19	82				
ANO7	50636	broad.mit.edu	37	2	242128062	242128062	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:242128062A>T	ENST00000274979.8	+	1	139	c.36A>T	c.(34-36)caA>caT	p.Q12H	ANO7_ENST00000402430.3_Missense_Mutation_p.Q12H|ANO7_ENST00000402530.3_Missense_Mutation_p.Q12H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	12					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGGGGCTCCAAGGGCCACCCC	0.677																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(34-36)CAA>CAT		transmembrane protein 16G isoform NGEP long							30.0	32.0	31.0					2																	242128062		2202	4299	6501	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128062A>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.36A>T	2.37:g.242128062A>T	ENSP00000274979:p.Gln12His					ANO7_uc002waw.2_Missense_Mutation_p.Q12H	p.Q12H	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			1	139	+			12			Cytoplasmic (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.36A>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147468	0.37923	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.71222	-0.44;0.68;-0.55	3.11	-6.22	0.02058	.	.	.	.	.	T	0.40791	0.1131	N	0.16478	0.41	0.09310	N	1	B;P	0.49253	0.085;0.921	B;B	0.36534	0.02;0.227	T	0.43294	-0.9400	9	0.87932	D	0	.	0.7027	0.00910	0.4213:0.1317:0.19:0.257	.	12;12	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	H	12	ENSP00000274979:Q12H;ENSP00000383985:Q12H;ENSP00000385418:Q12H	ENSP00000274979:Q12H	Q	+	3	2	ANO7	241776735	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.050000	0.03510	-1.776000	0.01285	-0.313000	0.08912	CAA		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		12	55	0	0	0	0.001368	0	12	55				
SCRT2	85508	broad.mit.edu	37	20	644454	644454	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:644454T>C	ENST00000246104.6	-	2	1362	c.785A>G	c.(784-786)cAc>cGc	p.H262R	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	262					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GAAGGCCGAGTGCGTCTGCAT	0.682																																							uc002wec.2		NA																	0					0						c.(784-786)CAC>CGC		scratch 2 protein							14.0	14.0	14.0					20																	644454		2196	4291	6487	SO:0001583	missense	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644454T>C		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.785A>G	20.37:g.644454T>C	ENSP00000246104:p.His262Arg					SRXN1_uc002web.2_Intron	p.H262R	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN			2	1363	-			262			C2H2-type 4.			Missense_Mutation	SNP	ENST00000246104.6	37	c.785A>G	CCDS13006.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.964256	0.74131	.	.	ENSG00000215397	ENST00000246104	D	0.88975	-2.45	3.66	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	D	0.93986	0.8074	M	0.89214	3.015	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.92620	0.6107	10	0.87932	D	0	-16.6299	8.1645	0.31217	0.1798:0.0:0.0:0.8202	.	262	Q9NQ03	SCRT2_HUMAN	R	262	ENSP00000246104:H262R	ENSP00000246104:H262R	H	-	2	0	SCRT2	592454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.652000	0.67959	0.445000	0.26639	0.375000	0.23000	CAC		0.682	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		3	11	0	0	0	0.004672	0	3	11				
MACROD2	140733	broad.mit.edu	37	20	15480436	15480436	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:15480436G>T	ENST00000310348.4	+	8	589	c.589G>T	c.(589-591)Gct>Tct	p.A197S	MACROD2_ENST00000217246.4_Missense_Mutation_p.A197S|MACROD2_ENST00000402914.1_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	197	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAACGAGCCTGCTGCAGTCAT	0.438																																							uc002wou.2		NA																	0					0						c.(589-591)GCT>TCT		MACRO domain containing 2 isoform 1							147.0	138.0	141.0					20																	15480436		1966	4158	6124	SO:0001583	missense	140733							g.chr20:15480436G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.589G>T	20.37:g.15480436G>T	ENSP00000309809:p.Ala197Ser					MACROD2_uc002wot.2_Missense_Mutation_p.A197S|MACROD2_uc002woz.2_5'UTR	p.A197S	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			8	853	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	197			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.589G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748338	0.89663	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.24151	1.87;1.87	5.86	5.86	0.93980	Appr-1-p processing (3);	0.000000	0.64402	D	0.000014	T	0.64843	0.2635	H	0.94306	3.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.994	T	0.74380	-0.3684	10	0.87932	D	0	-8.8931	18.3791	0.90444	0.0:0.0:1.0:0.0	.	197;197	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	197	ENSP00000217246:A197S;ENSP00000309809:A197S	ENSP00000217246:A197S	A	+	1	0	MACROD2	15428436	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.394000	0.73223	2.781000	0.95711	0.650000	0.86243	GCT		0.438	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		33	24	1	0	1.57351e-24	0.003755	2.04754e-24	33	24				
CST11	140880	broad.mit.edu	37	20	23433365	23433365	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:23433365C>T	ENST00000377009.3	-	1	117	c.84G>A	c.(82-84)aaG>aaA	p.K28K	CST11_ENST00000377007.3_Silent_p.K28K	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	28					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAAAGGTTTTCTTCCTTGCTT	0.507																																							uc002wtf.1		NA																	0					0						c.(82-84)AAG>AAA		cystatin 11 isoform 1 precursor							126.0	110.0	115.0					20																	23433365		2203	4300	6503	SO:0001819	synonymous_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433365C>T	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.84G>A	20.37:g.23433365C>T						CST11_uc002wtg.1_Silent_p.K28K	p.K28K	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	118	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		28					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	c.84G>A	CCDS13155.1																																																																																				0.507	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		22	86	0	0	0	0.010504	0	22	86				
TTLL9	164395	broad.mit.edu	37	20	30497577	30497577	+	Missense_Mutation	SNP	G	G	A	rs201616223		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:30497577G>A	ENST00000375938.4	+	6	609	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	TTLL9_ENST00000310998.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000535842.1_Missense_Mutation_p.R119Q|TTLL9_ENST00000375922.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000375921.2_Missense_Mutation_p.R69Q|TTLL9_ENST00000375934.4_Missense_Mutation_p.R101Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	119	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.R119Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACCTGAAGCGGTTCCGGAAG	0.597																																							uc010gdx.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(355-357)CGG>CAG		tubulin tyrosine ligase-like family, member 9							43.0	46.0	45.0					20																	30497577		2077	4226	6303	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30497577G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.356G>A	20.37:g.30497577G>A	ENSP00000365105:p.Arg119Gln					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.R119Q	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		6	609	+			119			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.356G>A	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512632	0.96402	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	5.51	5.51	0.81932	.	0.052899	0.64402	N	0.000001	T	0.35068	0.0919	M	0.87381	2.88	0.58432	D	0.999992	D	0.89917	1.0	D	0.77557	0.99	T	0.19976	-1.0289	10	0.87932	D	0	.	16.5728	0.84629	0.0:0.0:1.0:0.0	.	119	Q3SXZ7	TTLL9_HUMAN	Q	119;119;69;69;101;69	ENSP00000365105:R119Q;ENSP00000442515:R119Q;ENSP00000308980:R69Q;ENSP00000365086:R69Q;ENSP00000365100:R101Q;ENSP00000365088:R69Q	ENSP00000308980:R69Q	R	+	2	0	TTLL9	29961238	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.123000	0.77176	2.592000	0.87571	0.561000	0.74099	CGG		0.597	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		10	30	0	0	0	0.006214	0	10	30				
PHF20	51230	broad.mit.edu	37	20	34526967	34526967	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:34526967G>T	ENST00000374012.3	+	16	2778	c.2649G>T	c.(2647-2649)ctG>ctT	p.L883L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	883					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCCCGCGCCTGGGCTGGCCTC	0.607																																							uc002xek.1		NA																	0				ovary(1)	1						c.(2647-2649)CTG>CTT		PHD finger protein 20							48.0	44.0	45.0					20																	34526967		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526967G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2649G>T	20.37:g.34526967G>T							p.L883L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			16	2760	+	Breast(12;0.00631)|all_lung(11;0.0145)		883					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2649G>T	CCDS13268.1																																																																																				0.607	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		11	51	1	0	2.27111e-07	0.001368	2.58487e-07	11	51				
AAR2	25980	broad.mit.edu	37	20	34828453	34828453	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:34828453G>A	ENST00000373932.3	+	2	1009	c.663G>A	c.(661-663)acG>acA	p.T221T	AAR2_ENST00000397286.3_Silent_p.T221T|AAR2_ENST00000320849.4_Silent_p.T221T	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	221																	AGGGTGCCACGCCAGCTGAGA	0.607																																							uc002xfc.1		NA																	0					0						c.(661-663)ACG>ACA		hypothetical protein LOC25980							41.0	43.0	42.0					20																	34828453		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34828453G>A		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.663G>A	20.37:g.34828453G>A						C20orf4_uc002xfd.1_Silent_p.T221T|C20orf4_uc002xfe.1_Silent_p.T221T	p.T221T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	756	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	221					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.663G>A	CCDS13273.1																																																																																				0.607	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		14	96	0	0	0	0.001855	0	14	96				
PLCG1	5335	broad.mit.edu	37	20	39795149	39795149	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:39795149T>C	ENST00000373271.1	+	18	2439	c.2034T>C	c.(2032-2034)gcT>gcC	p.A678A	PLCG1_ENST00000244007.3_Silent_p.A678A|PLCG1_ENST00000373272.2_Silent_p.A678A	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	678	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGCACAGGCTGAGCACATGC	0.637																																							uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(2032-2034)GCT>GCC		phospholipase C, gamma 1 isoform b							81.0	70.0	74.0					20																	39795149		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795149T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2034T>C	20.37:g.39795149T>C						PLCG1_uc002xjo.1_Silent_p.A678A|PLCG1_uc010zwe.1_Silent_p.A304A|PLCG1_uc010ggf.2_Silent_p.A28A	p.A678A	NM_182811	NP_877963	P19174	PLCG1_HUMAN			18	2155	+		Myeloproliferative disorder(115;0.00878)	678			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.2034T>C	CCDS13314.1																																																																																				0.637	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		5	48	0	0	0	0.000602	0	5	48				
CHD6	84181	broad.mit.edu	37	20	40074364	40074364	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:40074364G>A	ENST00000373233.3	-	25	3995	c.3818C>T	c.(3817-3819)cCa>cTa	p.P1273L	CHD6_ENST00000309279.7_Missense_Mutation_p.P756L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1273					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGTCCACTGGGATCTCCAT	0.498																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3817-3819)CCA>CTA		chromodomain helicase DNA binding protein 6							124.0	101.0	109.0					20																	40074364		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40074364G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3818C>T	20.37:g.40074364G>A	ENSP00000362330:p.Pro1273Leu					CHD6_uc002xkb.1_Missense_Mutation_p.P39L	p.P1273L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			25	3996	-		Myeloproliferative disorder(115;0.00425)	1273					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3818C>T	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.538304|5.538304	0.96460|0.96460	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.94723|.	-3.5;-3.5|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.101306|.	0.44483|.	D|.	0.000449|.	D|.	0.82834|.	0.5123|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999981|0.999981	P;D|.	0.89917|.	0.891;1.0|.	B;D|.	0.79108|.	0.356;0.992|.	T|.	0.82790|.	-0.0283|.	10|.	0.87932|.	D|.	0|.	-10.3966|-10.3966	19.9089|19.9089	0.97019|0.97019	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	756;1273|.	C9JFU2;Q8TD26|.	.;CHD6_HUMAN|.	L|X	1273;756|459	ENSP00000362330:P1273L;ENSP00000308684:P756L|.	ENSP00000308684:P756L|.	P|Q	-|-	2|1	0|0	CHD6|CHD6	39507778|39507778	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	9.813000|9.813000	0.99286|0.99286	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.498	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			19	51	0	0	0	0.00278	0	19	51				
IFT52	51098	broad.mit.edu	37	20	42271134	42271134	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:42271134T>G	ENST00000373030.3	+	13	1266	c.1136T>G	c.(1135-1137)cTg>cGg	p.L379R	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Missense_Mutation_p.L379R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	379					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAGAAGACCTGGAATTTTAT	0.413																																							uc002xkw.2		NA																	0				ovary(2)	2						c.(1135-1137)CTG>CGG		intraflagellar transport 52 homolog							126.0	115.0	119.0					20																	42271134		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271134T>G	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1136T>G	20.37:g.42271134T>G	ENSP00000362121:p.Leu379Arg					IFT52_uc002xky.2_Missense_Mutation_p.L379R|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.L355R|IFT52_uc002xkz.2_Intron	p.L379R	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1258	+		Myeloproliferative disorder(115;0.00452)	379					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.1136T>G	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985324	0.74474	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.85531	0.5718	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89099	0.3488	9	0.87932	D	0	-9.5244	14.6567	0.68838	0.0:0.0:0.0:1.0	.	379	Q9Y366	IFT52_HUMAN	R	379	.	ENSP00000362121:L379R	L	+	2	0	IFT52	41704548	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.922000	0.87538	2.167000	0.68274	0.528000	0.53228	CTG		0.413	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		12	72	0	0	0	0.001368	0	12	72				
MYBL2	4605	broad.mit.edu	37	20	42341662	42341662	+	Silent	SNP	G	G	A	rs560153894		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:42341662G>A	ENST00000217026.4	+	12	1867	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K	MYBL2_ENST00000396863.4_Silent_p.K556K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	580					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCCCATCAAGAAAGTCCGGA	0.552																																							uc002xlb.1		NA																	0				lung(3)|kidney(2)	5						c.(1738-1740)AAG>AAA		MYB-related protein B							85.0	75.0	78.0					20																	42341662		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42341662G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1740G>A	20.37:g.42341662G>A						MYBL2_uc010zwj.1_Silent_p.K556K	p.K580K	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1955	+		Myeloproliferative disorder(115;0.00452)	580			Bipartite nuclear localization signal.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1740G>A	CCDS13322.1																																																																																				0.552	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		8	17	0	0	0	0.006214	0	8	17				
SERINC3	10955	broad.mit.edu	37	20	43132458	43132458	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:43132458A>G	ENST00000342374.4	-	8	1210	c.1053T>C	c.(1051-1053)tcT>tcC	p.S351S	SERINC3_ENST00000541235.1_Silent_p.S296S|SERINC3_ENST00000255175.1_Silent_p.S351S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	351					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TAACTTACCTAGAATACAAGA	0.363																																							uc002xme.2		NA																	0				skin(3)	3						c.(1051-1053)TCT>TCC		tumor differentially expressed protein 1							78.0	83.0	81.0					20																	43132458		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43132458A>G	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1053T>C	20.37:g.43132458A>G						SERINC3_uc002xmf.1_Silent_p.S351S|SERINC3_uc010ggs.1_Silent_p.S344S|SERINC3_uc010zwp.1_Silent_p.S296S	p.S351S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		8	1187	-		Myeloproliferative disorder(115;0.0122)	351			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.1053T>C	CCDS13333.1																																																																																				0.363	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		19	90	0	0	0	0.010504	0	19	90				
DDX27	55661	broad.mit.edu	37	20	47858627	47858627	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:47858627A>G	ENST00000371764.4	+	18	2102	c.2093A>G	c.(2092-2094)gAa>gGa	p.E698G	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	698						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGGCAGAGGAAAGGTCTCAG	0.602																																							uc002xuh.2		NA																	0				kidney(2)	2						c.(2092-2094)GAA>GGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							86.0	85.0	86.0					20																	47858627		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858627A>G	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2093A>G	20.37:g.47858627A>G	ENSP00000360828:p.Glu698Gly						p.E698G	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		18	2154	+			698					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.2093A>G	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152034	0.57151	.	.	ENSG00000124228	ENST00000371764	T	0.01647	4.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	M	0.64170	1.965	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.33445	-0.9868	10	0.72032	D	0.01	-23.5931	14.1338	0.65273	1.0:0.0:0.0:0.0	.	698	Q96GQ7	DDX27_HUMAN	G	698	ENSP00000360828:E698G	ENSP00000360828:E698G	E	+	2	0	DDX27	47292034	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.117000	0.94347	2.224000	0.72417	0.454000	0.30748	GAA		0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			22	152	0	0	0	0.002299	0	22	152				
PFDN4	5203	broad.mit.edu	37	20	52831911	52831911	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:52831911T>C	ENST00000371419.2	+	3	459	c.205T>C	c.(205-207)Tat>Cat	p.Y69H	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	69					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AATGATACCTTATCAAATTGG	0.328																																							uc002xwx.2		NA																	0					0						c.(205-207)TAT>CAT		prefoldin subunit 4							118.0	112.0	114.0					20																	52831911		2203	4300	6503	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52831911T>C	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.205T>C	20.37:g.52831911T>C	ENSP00000360473:p.Tyr69His						p.Y69H	NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		3	343	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		69					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.205T>C	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051134	0.75960	.	.	ENSG00000101132	ENST00000371419	T	0.43294	0.95	5.16	4.04	0.47022	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75093	-0.3439	10	0.87932	D	0	-8.5705	11.6436	0.51249	0.0:0.0:0.1489:0.8511	.	69	Q9NQP4	PFD4_HUMAN	H	69	ENSP00000360473:Y69H	ENSP00000360473:Y69H	Y	+	1	0	PFDN4	52265318	1.000000	0.71417	0.971000	0.41717	0.980000	0.70556	7.293000	0.78740	0.881000	0.35993	0.533000	0.62120	TAT		0.328	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		6	90	0	0	0	0.001168	0	6	90				
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(37)|p.R201L(1)|p.R844H(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2530-2532)CGT>CAT		GNAS complex locus XLas							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H	p.R844H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	2816	+	all_lung(29;0.0104)		201		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).	GTP (By similarity).		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		20	82	0	0	0	0.002299	0	20	82				
HRH3	11255	broad.mit.edu	37	20	60791154	60791154	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:60791154G>T	ENST00000340177.5	-	3	1530	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N	HRH3_ENST00000317393.6_Missense_Mutation_p.H416N	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	416					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	AAGCTGTGGTGGCACAGAGGG	0.627																																							uc002ycf.2		NA																	0					0						c.(1246-1248)CAC>AAC		histamine receptor H3	Histamine Phosphate(DB00667)						66.0	65.0	66.0					20																	60791154		2201	4298	6499	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791154G>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1246C>A	20.37:g.60791154G>T	ENSP00000342560:p.His416Asn					HRH3_uc002ycg.2_Missense_Mutation_p.H336N|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.H416N	p.H416N	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1543	-	Breast(26;7.76e-09)		416			Helical; Name=7; (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.1246C>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547620	0.65311	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.27557	1.66;1.66	5.01	5.01	0.66863	.	0.101830	0.64402	D	0.000003	T	0.38427	0.1040	M	0.63843	1.955	0.44309	D	0.997181	P;P;P	0.52061	0.95;0.584;0.877	P;B;B	0.49999	0.628;0.351;0.417	T	0.31530	-0.9940	10	0.02654	T	1	-29.1964	18.3362	0.90288	0.0:0.0:1.0:0.0	.	416;336;416	Q9Y5N1-2;Q8WXZ9;Q9Y5N1	.;.;HRH3_HUMAN	N	416;416;386	ENSP00000342560:H416N;ENSP00000321482:H416N	ENSP00000321482:H416N	H	-	1	0	HRH3	60224549	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.762000	0.98944	2.318000	0.78349	0.561000	0.74099	CAC		0.627	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		4	22	1	0	0.00024832	0.009096	0.000264478	4	22				
COL9A3	1299	broad.mit.edu	37	20	61458629	61458629	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:61458629G>A	ENST00000343916.3	+	16	832	c.829G>A	c.(829-831)Ggc>Agc	p.G277S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	277	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGGTTCCGCGGCCCCAAGGG	0.602																																							uc002ydm.2		NA																	0					0						c.(829-831)GGC>AGC		alpha 3 type IX collagen precursor							56.0	58.0	57.0					20																	61458629		2200	4300	6500	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61458629G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.829G>A	20.37:g.61458629G>A	ENSP00000341640:p.Gly277Ser						p.G277S	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			16	832	+	Breast(26;5.68e-08)		277			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.829G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771069	0.49680	.	.	ENSG00000092758	ENST00000343916	D	0.99167	-5.51	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97732	4.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98113	1.0421	10	0.87932	D	0	.	11.8283	0.52280	0.0:0.0:1.0:0.0	.	277	Q14050	CO9A3_HUMAN	S	277	ENSP00000341640:G277S	ENSP00000341640:G277S	G	+	1	0	COL9A3	60929074	0.995000	0.38212	0.911000	0.35937	0.457000	0.32468	2.324000	0.43831	1.905000	0.55150	0.462000	0.41574	GGC		0.602	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		13	48	0	0	0	0.00245	0	13	48				
COL9A3	1299	broad.mit.edu	37	20	61468525	61468525	+	Missense_Mutation	SNP	C	C	A	rs569423970	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:61468525C>A	ENST00000343916.3	+	30	1697	c.1694C>A	c.(1693-1695)cCa>cAa	p.P565Q	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	565	Triple-helical region 2 (COL2).		Missing. {ECO:0000269|PubMed:10428822}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCTGGGCCCCCAGGACCCCCA	0.667																																							uc002ydm.2		NA																	0					0						c.(1693-1695)CCA>CAA		alpha 3 type IX collagen precursor							59.0	75.0	70.0					20																	61468525		2203	4297	6500	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61468525C>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1694C>A	20.37:g.61468525C>A	ENSP00000341640:p.Pro565Gln					COL9A3_uc002ydn.2_Missense_Mutation_p.P59Q	p.P565Q	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			30	1697	+	Breast(26;5.68e-08)		565		Missing.|Missing.	Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1694C>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043112	0.36085	.	.	ENSG00000092758	ENST00000343916	D	0.94138	-3.36	4.8	4.8	0.61643	.	0.318283	0.33753	N	0.004591	D	0.89343	0.6688	L	0.43757	1.38	0.38410	D	0.945905	B;P	0.39535	0.128;0.677	B;B	0.36378	0.174;0.223	D	0.90196	0.4253	10	0.44086	T	0.13	.	12.8932	0.58084	0.1627:0.8373:0.0:0.0	.	68;565	Q9BT15;Q14050	.;CO9A3_HUMAN	Q	565	ENSP00000341640:P565Q	ENSP00000341640:P565Q	P	+	2	0	COL9A3	60938970	0.891000	0.30450	0.856000	0.33681	0.043000	0.13939	2.621000	0.46418	2.211000	0.71520	0.561000	0.74099	CCA		0.667	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		13	191	1	0	5.50884e-06	0.001368	6.04854e-06	13	191				
DIDO1	11083	broad.mit.edu	37	20	61510873	61510873	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:61510873C>A	ENST00000266070.4	-	16	6760	c.6435G>T	c.(6433-6435)cgG>cgT	p.R2145R	DIDO1_ENST00000395343.1_Silent_p.R2145R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2145	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					tgtcccagtcccggctggagt	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(6433-6435)CGG>CGT		death inducer-obliterator 1 isoform c							18.0	16.0	17.0					20																	61510873		2178	4245	6423	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61510873C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6435G>T	20.37:g.61510873C>A						DIDO1_uc002yds.1_Silent_p.R2145R	p.R2145R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6699	-	Breast(26;5.68e-08)		2145			Arg-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6435G>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		14	30	1	0	2.32078e-09	0.003163	2.73137e-09	14	30				
TPTE	7179	broad.mit.edu	37	21	10942989	10942989	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:10942989T>A	ENST00000361285.4	-	12	927	c.598A>T	c.(598-600)Att>Ttt	p.I200F	TPTE_ENST00000298232.7_Missense_Mutation_p.I182F|TPTE_ENST00000342420.5_Missense_Mutation_p.I162F|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	200					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACAGAATAATAAGTCGTAGA	0.303																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(598-600)ATT>TTT		transmembrane phosphatase with tensin homology							79.0	74.0	76.0					21																	10942989		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942989T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.598A>T	21.37:g.10942989T>A	ENSP00000355208:p.Ile200Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I182F|TPTE_uc002yir.1_Missense_Mutation_p.I162F|TPTE_uc010gkv.1_Missense_Mutation_p.I62F	p.I200F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	966	-			200					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.598A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	6.332	0.429337	0.11987	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98075	-4.7;-4.7;-4.7	2.07	-4.15	0.03881	Ion transport (1);	0.315059	0.31102	U	0.008258	D	0.94351	0.8184	L	0.49640	1.575	0.37278	D	0.9077	B;B;P	0.35982	0.196;0.196;0.531	B;B;B	0.40565	0.134;0.134;0.333	D	0.85839	0.1396	10	0.45353	T	0.12	-4.62	5.0273	0.14391	0.0:0.3296:0.1605:0.5098	.	162;182;200	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	182;200;162	ENSP00000298232:I182F;ENSP00000355208:I200F;ENSP00000344441:I162F	ENSP00000298232:I182F	I	-	1	0	TPTE	9964860	0.939000	0.31865	0.021000	0.16686	0.031000	0.12232	-0.249000	0.08842	-1.472000	0.01883	-1.140000	0.01884	ATT		0.303	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	68	0	0	0	0.001984	0	7	68				
SAMSN1	64092	broad.mit.edu	37	21	15870868	15870868	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:15870868C>A	ENST00000400566.1	-	7	895	c.814G>T	c.(814-816)Gat>Tat	p.D272Y	SAMSN1_ENST00000285670.2_Missense_Mutation_p.D340Y|SAMSN1_ENST00000400564.1_Missense_Mutation_p.D104Y|SAMSN1_ENST00000463807.1_5'UTR	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	272	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTTTAAATCTTCTAGAGTC	0.303																																							uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(814-816)GAT>TAT		SAM domain, SH3 domain and nuclear localization							76.0	67.0	70.0					21																	15870868		1800	4059	5859	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15870868C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.814G>T	21.37:g.15870868C>A	ENSP00000383411:p.Asp272Tyr					SAMSN1_uc010gky.1_Missense_Mutation_p.D104Y|SAMSN1_uc002yjv.1_Missense_Mutation_p.D340Y	p.D272Y	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	896	-			272			SAM.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.814G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724618	0.68959	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.84944	-1.92;-1.92;-1.92	6.04	6.04	0.98038	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92961	0.7760	M	0.78637	2.42	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.92518	0.6022	10	0.66056	D	0.02	-25.2927	20.5948	0.99439	0.0:1.0:0.0:0.0	.	104;340;272	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	Y	340;272;104	ENSP00000285670:D340Y;ENSP00000383411:D272Y;ENSP00000383409:D104Y	ENSP00000285670:D340Y	D	-	1	0	SAMSN1	14792739	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.559000	0.53756	2.873000	0.98535	0.563000	0.77884	GAT		0.303	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			13	45	1	0	7.93312e-07	0.00245	8.86685e-07	13	45				
GABPA	2551	broad.mit.edu	37	21	27136661	27136661	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:27136661G>T	ENST00000354828.3	+	8	1470	c.943G>T	c.(943-945)Gga>Tga	p.G315*	GABPA_ENST00000400075.3_Splice_Site_p.G315*	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	315					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACAGAACAGGTATTTTTGT	0.323																																							uc002ylx.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(943-945)GGA>TGA		GA binding protein transcription factor, alpha							39.0	41.0	40.0					21																	27136661		2197	4289	6486	SO:0001630	splice_region_variant	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27136661G>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.943+1G>T	21.37:g.27136661G>T						GABPA_uc002yly.3_Nonsense_Mutation_p.G315*	p.G315*	NM_002040	NP_002031	Q06546	GABPA_HUMAN			8	1470	+			315					Q12939	Nonsense_Mutation	SNP	ENST00000354828.3	37	c.943G>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	38	6.806433	0.97853	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.7202	0.88349	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000346886:G315X	G	+	1	0	GABPA	26058532	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.276000	0.78559	2.586000	0.87340	0.591000	0.81541	GGA		0.323	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040	Nonsense_Mutation	14	21	1	0	3.27435e-08	0.00245	3.77506e-08	14	21				
CYYR1	116159	broad.mit.edu	37	21	27840881	27840881	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:27840881G>T	ENST00000299340.4	-	4	747	c.404C>A	c.(403-405)aCc>aAc	p.T135N	AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	135						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ACCCTGTGGGGTGGGGGAGTA	0.532																																							uc002ymd.2		NA																	0					0						c.(403-405)ACC>AAC		cysteine and tyrosine-rich 1 protein precursor							98.0	84.0	89.0					21																	27840881		2203	4300	6503	SO:0001583	missense	116159					integral to membrane		g.chr21:27840881G>T	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.404C>A	21.37:g.27840881G>T	ENSP00000299340:p.Thr135Asn					CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.T136N	p.T135N	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN			4	726	-			135			Cytoplasmic (Potential).		A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Missense_Mutation	SNP	ENST00000299340.4	37	c.404C>A	CCDS13578.1	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521481	0.13005	.	.	ENSG00000166265	ENST00000299340	T	0.33865	1.39	4.51	2.7	0.31948	.	0.323359	0.36628	N	0.002484	T	0.31888	0.0811	L	0.47716	1.5	0.09310	N	1	B;P	0.34587	0.403;0.458	B;B	0.39771	0.206;0.309	T	0.23868	-1.0176	10	0.72032	D	0.01	-9.1474	6.2343	0.20754	0.0989:0.1882:0.7129:0.0	.	136;135	Q96J86-2;Q96J86	.;CYYR1_HUMAN	N	135	ENSP00000299340:T135N	ENSP00000299340:T135N	T	-	2	0	CYYR1	26762752	0.773000	0.28580	0.001000	0.08648	0.057000	0.15508	2.376000	0.44292	0.826000	0.34661	0.650000	0.86243	ACC		0.532	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		29	67	1	0	7.01153e-11	0.007291	8.45189e-11	29	67				
LTN1	26046	broad.mit.edu	37	21	30325585	30325585	+	Missense_Mutation	SNP	G	G	A	rs201599162		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:30325585G>A	ENST00000361371.5	-	17	3272	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	LTN1_ENST00000389194.2_Missense_Mutation_p.R1111C			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1065					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCAAGTACACGTAAGTTATCA	0.318																																							uc002ymr.2		NA																	0					0						c.(3331-3333)CGT>TGT		zinc finger protein 294		G	CYS/ARG	1,4405	6.2+/-15.9	0,1,2202	78.0	77.0	77.0		3331	-2.2	0.8	21		77	0,8600		0,0,4300	yes	missense	LTN1	NM_015565.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1111/1813	30325585	1,13005	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30325585G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3193C>T	21.37:g.30325585G>A	ENSP00000354977:p.Arg1065Cys						p.R1111C	NM_015565	NP_056380	O94822	LTN1_HUMAN			17	3344	-			1065					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.3331C>T		.	.	.	.	.	.	.	.	.	.	G	11.60	1.686672	0.29962	2.27E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18174	2.23;2.24	4.84	-2.25	0.06888	.	0.940603	0.09082	N	0.851118	T	0.07503	0.0189	N	0.08118	0	0.21579	N	0.999631	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	10	0.38643	T	0.18	.	6.2847	0.21027	0.2695:0.0:0.538:0.1925	.	1065	O94822	LTN1_HUMAN	C	1111;1065	ENSP00000373846:R1111C;ENSP00000354977:R1065C	ENSP00000354977:R1065C	R	-	1	0	LTN1	29247456	0.150000	0.22732	0.840000	0.33206	0.972000	0.66771	0.156000	0.16382	-0.166000	0.10890	0.655000	0.94253	CGT		0.318	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		12	106	0	0	0	0.001368	0	12	106				
KRTAP6-3	337968	broad.mit.edu	37	21	31964831	31964831	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:31964831G>T	ENST00000391624.1	+	1	73	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	16						intermediate filament (GO:0005882)		p.G16W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCATGGCTATGggtgctgtgg	0.567																																							uc002yom.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GGG>TGG		keratin associated protein 6-3							118.0	125.0	123.0					21																	31964831		2203	4300	6503	SO:0001583	missense	337968							g.chr21:31964831G>T	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.46G>T	21.37:g.31964831G>T	ENSP00000375482:p.Gly16Trp						p.G23W	NM_181605	NP_853636					1	73	+								A4IF26	Missense_Mutation	SNP	ENST00000391624.1	37	c.67G>T		.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055341	0.07362	.	.	ENSG00000212938	ENST00000391624	T	0.46451	0.87	2.53	2.53	0.30540	.	.	.	.	.	T	0.51924	0.1703	L	0.39898	1.24	0.22127	N	0.99934	D	0.89917	1.0	D	0.91635	0.999	T	0.28202	-1.0051	9	0.87932	D	0	.	8.7054	0.34351	0.0:0.0:1.0:0.0	.	16	Q3LI67	KRA63_HUMAN	W	16	ENSP00000375482:G16W	ENSP00000375482:G16W	G	+	1	0	KRTAP6-3	30886702	1.000000	0.71417	0.381000	0.26106	0.163000	0.22366	2.110000	0.41873	1.714000	0.51371	0.650000	0.86243	GGG		0.567	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		13	70	1	0	3.41278e-10	0.00499	4.07047e-10	13	70				
KRTAP11-1	337880	broad.mit.edu	37	21	32253380	32253380	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:32253380C>T	ENST00000332378.4	-	1	494	c.464G>A	c.(463-465)tGc>tAc	p.C155Y		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	155						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GCTGGACACGCAGGACTGCTG	0.582																																							uc002yov.2		NA																	0				pancreas(1)	1						c.(463-465)TGC>TAC		keratin associated protein 11-1							67.0	67.0	67.0					21																	32253380		2203	4299	6502	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253380C>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.464G>A	21.37:g.32253380C>T	ENSP00000330720:p.Cys155Tyr						p.C155Y	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	495	-			155					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.464G>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	3.552	-0.091436	0.07053	.	.	ENSG00000182591	ENST00000332378	T	0.03982	3.74	5.4	1.3	0.21679	.	0.711515	0.13845	N	0.358738	T	0.06005	0.0156	M	0.67953	2.075	0.21290	N	0.999738	B	0.13145	0.007	B	0.12156	0.007	T	0.36553	-0.9743	10	0.59425	D	0.04	-1.2288	2.8159	0.05456	0.1651:0.5418:0.1328:0.1603	.	155	Q8IUC1	KR111_HUMAN	Y	155	ENSP00000330720:C155Y	ENSP00000330720:C155Y	C	-	2	0	KRTAP11-1	31175251	0.002000	0.14202	0.108000	0.21378	0.363000	0.29612	-0.384000	0.07389	0.030000	0.15379	0.650000	0.86243	TGC		0.582	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			22	62	0	0	0	0.00278	0	22	62				
SCAF4	57466	broad.mit.edu	37	21	33068519	33068519	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:33068519A>G	ENST00000286835.7	-	9	1357	c.975T>C	c.(973-975)gaT>gaC	p.D325D	SCAF4_ENST00000399804.1_Silent_p.D325D|SCAF4_ENST00000434667.3_Silent_p.D310D	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	325						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGCATGCCATCTCCAGGAA	0.423																																							uc002ypd.2		NA																	0					0						c.(973-975)GAT>GAC		splicing factor, arginine/serine-rich 15 isoform							186.0	175.0	178.0					21																	33068519		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33068519A>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.975T>C	21.37:g.33068519A>G						SFRS15_uc002ype.2_Silent_p.D325D|SFRS15_uc010glu.2_Silent_p.D310D|SFRS15_uc002ypf.1_5'UTR	p.D325D	NM_020706	NP_065757	O95104	SFR15_HUMAN			9	1401	-			325					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.975T>C	CCDS33537.1																																																																																				0.423	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		24	123	0	0	0	0.00333	0	24	123				
C21orf62	56245	broad.mit.edu	37	21	34166092	34166092	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:34166092A>G	ENST00000536776.1	-	2	781	c.641T>C	c.(640-642)gTt>gCt	p.V214A	C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.V214A|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.V214A|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.V214A|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000477513.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	214										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AAATGTGACAACATAGCTTTT	0.368																																							uc010glz.2		NA																	0				ovary(1)	1						c.(640-642)GTT>GCT		hypothetical protein LOC56245							109.0	103.0	105.0					21																	34166092		1878	4110	5988	SO:0001583	missense	56245							g.chr21:34166092A>G	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.641T>C	21.37:g.34166092A>G	ENSP00000444950:p.Val214Ala					C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Missense_Mutation_p.V214A|C21orf62_uc011adu.1_Missense_Mutation_p.V214A	p.V214A	NM_001162495	NP_001155967	Q9NYP8	CU062_HUMAN			4	1013	-		Myeloproliferative disorder(46;0.0255)	214					A8K4L8	Missense_Mutation	SNP	ENST00000536776.1	37	c.641T>C	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725581	0.48833	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	5.88	4.73	0.59995	.	.	.	.	.	T	0.43299	0.1241	M	0.64997	1.995	0.19775	N	0.999959	P	0.45531	0.86	B	0.41510	0.359	T	0.45249	-0.9274	8	0.72032	D	0.01	-18.2758	11.8583	0.52451	0.9302:0.0:0.0698:0.0	.	214	Q9NYP8	CU062_HUMAN	A	214;214;214;261;214	.	ENSP00000371810:V261A	V	-	2	0	C21orf62	33087963	0.089000	0.21612	0.312000	0.25196	0.866000	0.49608	3.082000	0.50128	2.257000	0.74773	0.459000	0.35465	GTT		0.368	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		26	70	0	0	0	0.005443	0	26	70				
UMODL1	89766	broad.mit.edu	37	21	43547904	43547904	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:43547904G>A	ENST00000408910.2	+	20	3653	c.3653G>A	c.(3652-3654)cGc>cAc	p.R1218H	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1274H|UMODL1_ENST00000400424.2_Missense_Mutation_p.R1146H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1346H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1218	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAAACTCCGCGTCTGCATG	0.468																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(3652-3654)CGC>CAC		uromodulin-like 1 isoform 1 precursor							121.0	118.0	119.0					21																	43547904		1990	4169	6159	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547904G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3653G>A	21.37:g.43547904G>A	ENSP00000386147:p.Arg1218His					UMODL1_uc002zad.1_Missense_Mutation_p.R1146H|UMODL1_uc002zae.1_Missense_Mutation_p.R1274H|UMODL1_uc002zag.1_Missense_Mutation_p.R1346H|UMODL1_uc002zal.1_Missense_Mutation_p.R168H|UMODL1_uc010gpa.1_RNA	p.R1218H	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			20	3653	+			1218			Extracellular (Potential).|ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3653G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	9.193	1.026584	0.19512	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	3.56	3.56	0.40772	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.157726	0.27052	N	0.021161	T	0.70456	0.3226	L	0.34521	1.04	0.09310	N	1	P;P	0.51057	0.941;0.691	B;B	0.39027	0.288;0.216	T	0.64664	-0.6354	9	.	.	.	-25.27	9.3757	0.38281	0.1022:0.0:0.8978:0.0	.	1346;1218	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1274;1146;1346;1218;103	ENSP00000383279:R1274H;ENSP00000383276:R1146H;ENSP00000386126:R1346H;ENSP00000386147:R1218H	.	R	+	2	0	UMODL1	42420973	0.756000	0.28383	0.009000	0.14445	0.228000	0.25075	3.036000	0.49767	2.290000	0.77057	0.561000	0.74099	CGC		0.468	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			17	50	0	0	0	0.00499	0	17	50				
TRPM2	7226	broad.mit.edu	37	21	45811243	45811243	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:45811243T>C	ENST00000397928.1	+	11	1974	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	TRPM2_ENST00000300481.9_Missense_Mutation_p.L510P|TRPM2_ENST00000300482.5_Missense_Mutation_p.L510P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.L510P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	510					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGTGCAGCTGAAGGAGTTT	0.562																																							uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1528-1530)CTG>CCG		transient receptor potential cation channel,							149.0	111.0	124.0					21																	45811243		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811243T>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1529T>C	21.37:g.45811243T>C	ENSP00000381023:p.Leu510Pro					TRPM2_uc002zeu.1_Missense_Mutation_p.L510P|TRPM2_uc002zew.1_Missense_Mutation_p.L510P|TRPM2_uc010gpt.1_Missense_Mutation_p.L510P|TRPM2_uc002zex.1_Missense_Mutation_p.L296P|TRPM2_uc002zey.1_Missense_Mutation_p.L23P	p.L510P	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	1742	+			510			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1529T>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649772	0.29336	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.09	5.09	0.68999	.	0.087818	0.48286	D	0.000193	T	0.67850	0.2937	M	0.79475	2.455	0.80722	D	1	D;B;D	0.69078	0.997;0.437;0.997	D;B;P	0.65987	0.94;0.137;0.905	T	0.73325	-0.4018	10	0.87932	D	0	-17.0909	14.8448	0.70251	0.0:0.0:0.0:1.0	.	510;296;510	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	P	510	ENSP00000300482:L510P;ENSP00000381023:L510P;ENSP00000300481:L510P;ENSP00000381026:L510P	ENSP00000300481:L510P	L	+	2	0	TRPM2	44635671	1.000000	0.71417	0.984000	0.44739	0.014000	0.08584	7.178000	0.77657	1.918000	0.55548	0.533000	0.62120	CTG		0.562	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	89	0	0	0	0.001984	0	7	89				
KRTAP10-2	386679	broad.mit.edu	37	21	45971263	45971263	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:45971263A>G	ENST00000391621.1	-	1	125	c.79T>C	c.(79-81)Tgt>Cgt	p.C27R	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_5'UTR	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	27	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GGGAGCTCACAGCAGCTCTCT	0.687																																							uc002zfi.1		NA																	0				large_intestine(1)	1						c.(79-81)TGT>CGT		keratin associated protein 10-2							61.0	66.0	65.0					21																	45971263		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45971263A>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.79T>C	21.37:g.45971263A>G	ENSP00000375479:p.Cys27Arg					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C27R	NM_198693	NP_941966	P60368	KR102_HUMAN			1	126	-			27			22 X 5 AA repeats of C-C-X(3).|1.		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.79T>C	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	a	12.98	2.101061	0.37048	.	.	ENSG00000205445	ENST00000391621	T	0.13538	2.58	3.64	3.64	0.41730	.	.	.	.	.	T	0.47637	0.1456	H	0.96269	3.795	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.60265	-0.7297	9	0.87932	D	0	.	10.2656	0.43453	1.0:0.0:0.0:0.0	.	27	P60368	KR102_HUMAN	R	27	ENSP00000375479:C27R	ENSP00000375479:C27R	C	-	1	0	KRTAP10-2	44795691	0.772000	0.28567	0.998000	0.56505	0.237000	0.25408	3.895000	0.56258	1.296000	0.44742	0.254000	0.18369	TGT		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			22	75	0	0	0	0.002299	0	22	75				
PCBP3	54039	broad.mit.edu	37	21	47360050	47360050	+	Missense_Mutation	SNP	G	G	T	rs201382669		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:47360050G>T	ENST00000400314.1	+	15	1354	c.1016G>T	c.(1015-1017)cGt>cTt	p.R339L	PCBP3_ENST00000449640.1_Missense_Mutation_p.R339L|PCBP3_ENST00000400309.1_Missense_Mutation_p.R338L|PCBP3_ENST00000400308.1_Missense_Mutation_p.R313L|PCBP3_ENST00000400310.1_Missense_Mutation_p.R319L|PCBP3_ENST00000400304.1_Missense_Mutation_p.R329L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	339	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCTCAGAGCGTCAGATCACC	0.557																																							uc002zhq.1		NA																	0				skin(1)	1						c.(1015-1017)CGT>CTT		poly(rC) binding protein 3 isoform 1							65.0	73.0	71.0					21																	47360050		2137	4253	6390	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360050G>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.1016G>T	21.37:g.47360050G>T	ENSP00000383168:p.Arg339Leu					PCBP3_uc002zhp.1_Missense_Mutation_p.R319L|PCBP3_uc002zhs.1_Missense_Mutation_p.R313L|PCBP3_uc002zhr.1_Missense_Mutation_p.R338L|PCBP3_uc002zht.1_Missense_Mutation_p.R329L	p.R339L	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1141	+	all_hematologic(128;0.24)		339			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.1016G>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979292	0.92982	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	4.08	4.08	0.47627	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	H	0.96662	3.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.993;0.999;0.993	D	0.84204	0.0452	10	0.87932	D	0	-12.8649	16.4819	0.84160	0.0:0.0:1.0:0.0	.	329;313;338;339;319	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	L	339;319;338;313;339;319;290;329	ENSP00000383168:R339L;ENSP00000383165:R319L;ENSP00000383164:R338L;ENSP00000383163:R313L;ENSP00000401198:R339L;ENSP00000383160:R290L;ENSP00000383159:R329L	ENSP00000330225:R319L	R	+	2	0	PCBP3	46184478	1.000000	0.71417	0.624000	0.29186	0.890000	0.51754	9.011000	0.93618	2.097000	0.63578	0.549000	0.68633	CGT		0.557	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			11	55	1	0	5.50884e-06	0.001368	6.04854e-06	11	55				
PCNT	5116	broad.mit.edu	37	21	47777012	47777012	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:47777012A>C	ENST00000359568.5	+	13	2167	c.2060A>C	c.(2059-2061)gAg>gCg	p.E687A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	687	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTCAGACTGAGCTCAAAGAA	0.478																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2059-2061)GAG>GCG		pericentrin							59.0	64.0	62.0					21																	47777012		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47777012A>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2060A>C	21.37:g.47777012A>C	ENSP00000352572:p.Glu687Ala					PCNT_uc002zjj.2_Missense_Mutation_p.E569A	p.E687A	NM_006031	NP_006022	O95613	PCNT_HUMAN			13	2167	+	Breast(49;0.112)		687			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2060A>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827277	0.32329	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	4.83	2.36	0.29203	.	.	.	.	.	T	0.03095	0.0091	L	0.40543	1.245	0.09310	N	1	D;P	0.54207	0.965;0.941	P;B	0.53266	0.722;0.444	T	0.48875	-0.8996	9	0.28530	T	0.3	.	6.1493	0.20303	0.6698:0.1689:0.0:0.1613	.	569;687	O95613-2;O95613	.;PCNT_HUMAN	A	687;674	ENSP00000352572:E687A	ENSP00000338675:E674A	E	+	2	0	PCNT	46601440	0.287000	0.24315	0.023000	0.16930	0.325000	0.28411	2.831000	0.48144	0.188000	0.20168	0.459000	0.35465	GAG		0.478	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	35	0	0	0	0.003163	0	16	35				
PCNT	5116	broad.mit.edu	37	21	47783492	47783492	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:47783492A>T	ENST00000359568.5	+	14	2359	c.2252A>T	c.(2251-2253)gAc>gTc	p.D751V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	751	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAAGAAACGGACTGGAAAGTT	0.408																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2251-2253)GAC>GTC		pericentrin							127.0	130.0	129.0					21																	47783492		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783492A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2252A>T	21.37:g.47783492A>T	ENSP00000352572:p.Asp751Val					PCNT_uc002zjj.2_Missense_Mutation_p.D633V	p.D751V	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2359	+	Breast(49;0.112)		751			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2252A>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830775	0.50845	.	.	ENSG00000160299	ENST00000359568	T	0.24350	1.86	4.26	3.1	0.35709	.	0.491362	0.15200	N	0.275087	T	0.16428	0.0395	N	0.22421	0.69	0.38379	D	0.945096	P;P	0.48764	0.531;0.915	B;B	0.42062	0.275;0.374	T	0.05699	-1.0869	10	0.35671	T	0.21	.	7.8199	0.29282	0.9041:0.0:0.0959:0.0	.	633;751	O95613-2;O95613	.;PCNT_HUMAN	V	751	ENSP00000352572:D751V	ENSP00000352572:D751V	D	+	2	0	PCNT	46607920	1.000000	0.71417	0.844000	0.33320	0.010000	0.07245	1.661000	0.37408	0.801000	0.34066	0.528000	0.53228	GAC		0.408	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		11	92	0	0	0	0.008291	0	11	92				
GAB4	128954	broad.mit.edu	37	22	17447184	17447184	+	Missense_Mutation	SNP	C	C	G	rs200930866	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:17447184C>G	ENST00000400588.1	-	6	1201	c.1094G>C	c.(1093-1095)gGc>gCc	p.G365A	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	365										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGTAGGGGAGCCTGGGTTCAT	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20166	0.0		0.0	False		,,,				2504	0.0						uc002zlw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1093-1095)GGC>GCC		GRB2-associated binding protein family, member		C	ALA/GLY	4,4020		0,4,2008	35.0	39.0	38.0		1094	3.0	0.8	22		38	0,8376		0,0,4188	no	missense	GAB4	NM_001037814.1	60	0,4,6196	GG,GC,CC		0.0,0.0994,0.0323	probably-damaging	365/575	17447184	4,12396	2012	4188	6200	SO:0001583	missense	128954							g.chr22:17447184C>G	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1094G>C	22.37:g.17447184C>G	ENSP00000383431:p.Gly365Ala					GAB4_uc010gqs.1_3'UTR	p.G365A	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			6	1202	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	365						Missense_Mutation	SNP	ENST00000400588.1	37	c.1094G>C	CCDS42976.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.85	2.060857	0.36373	9.94E-4	0.0	ENSG00000215568	ENST00000400588	T	0.16196	2.36	2.96	2.96	0.34315	.	0.169054	0.51477	D	0.000087	T	0.26484	0.0647	L	0.46157	1.445	0.32980	D	0.52356	D	0.76494	0.999	D	0.80764	0.994	T	0.06789	-1.0807	10	0.02654	T	1	.	12.0813	0.53671	0.0:1.0:0.0:0.0	.	365	Q2WGN9	GAB4_HUMAN	A	365	ENSP00000383431:G365A	ENSP00000383431:G365A	G	-	2	0	GAB4	15827184	1.000000	0.71417	0.761000	0.31378	0.010000	0.07245	5.435000	0.66532	1.582000	0.49881	0.411000	0.27672	GGC		0.577	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		11	36	0	0	0	0.000978	0	11	36				
SLC25A18	83733	broad.mit.edu	37	22	18064154	18064154	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:18064154G>T	ENST00000327451.6	+	5	712	c.174G>T	c.(172-174)gcG>gcT	p.A58A	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Silent_p.A58A	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	58						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CGGCTCGGGCGGAGGGCTTCT	0.642																																					Colon(118;1560 1625 18964 29606 50093)	Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1		NA																	0					0						c.(172-174)GCG>GCT		solute carrier	L-Glutamic Acid(DB00142)						95.0	92.0	93.0					22																	18064154		2203	4300	6503	SO:0001819	synonymous_variant	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18064154G>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.174G>T	22.37:g.18064154G>T						SLC25A18_uc010gqx.2_Silent_p.A58A|SLC25A18_uc002zmq.1_Silent_p.A58A	p.A58A	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	5	668	+			58			Solcar 1.			Silent	SNP	ENST00000327451.6	37	c.174G>T	CCDS13744.1																																																																																				0.642	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		14	120	1	0	2.5808e-16	0.006122	3.2594e-16	14	120				
COMT	1312	broad.mit.edu	37	22	19950324	19950324	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:19950324T>G	ENST00000361682.6	+	3	657	c.275T>G	c.(274-276)gTg>gGg	p.V92G	MIR4761_ENST00000585066.1_RNA|COMT_ENST00000407537.1_Missense_Mutation_p.V42G|COMT_ENST00000406520.3_Missense_Mutation_p.V92G|COMT_ENST00000449653.1_Missense_Mutation_p.V42G|COMT_ENST00000403710.1_Missense_Mutation_p.V92G|COMT_ENST00000403184.1_Missense_Mutation_p.V92G	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	92					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	GCCATGAACGTGGGCGACAAG	0.612																																							uc002zqu.2		NA																	0				ovary(1)	1						c.(274-276)GTG>GGG		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						76.0	73.0	74.0					22																	19950324		2203	4300	6503	SO:0001583	missense	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19950324T>G		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.275T>G	22.37:g.19950324T>G	ENSP00000354511:p.Val92Gly					COMT_uc002zqt.2_Missense_Mutation_p.V92G|COMT_uc002zqv.2_Missense_Mutation_p.V92G|COMT_uc002zqw.2_Missense_Mutation_p.V92G|COMT_uc011ahd.1_Missense_Mutation_p.V92G|COMT_uc002zqx.2_Missense_Mutation_p.V92G	p.V92G	NM_000754	NP_000745	P21964	COMT_HUMAN			3	524	+	Colorectal(54;0.0993)		92				S-adenosyl-L-methionine; via amide nitrogen.	A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	37	c.275T>G	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587902	0.86851	.	.	ENSG00000093010	ENST00000361682;ENST00000403184;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.5	5.5	0.81552	.	0.060949	0.64402	D	0.000003	T	0.70011	0.3175	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.81629	-0.0846	10	0.87932	D	0	-10.2669	14.893	0.70623	0.0:0.0:0.0:1.0	.	92;92	P21964;E7EUU8	COMT_HUMAN;.	G	92;92;92;42;92;92;42	ENSP00000354511:V92G;ENSP00000383966:V92G;ENSP00000385917:V92G;ENSP00000384654:V42G;ENSP00000403958:V92G;ENSP00000385150:V92G;ENSP00000416778:V42G	ENSP00000207636:V92G	V	+	2	0	COMT	18330324	1.000000	0.71417	0.987000	0.45799	0.550000	0.35303	6.969000	0.76092	2.225000	0.72522	0.533000	0.62120	GTG		0.612	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		7	31	0	0	0	0.00308	0	7	31				
DGCR8	54487	broad.mit.edu	37	22	20079413	20079413	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:20079413G>T	ENST00000351989.3	+	7	1955	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	DGCR8_ENST00000407755.1_Missense_Mutation_p.G509V|DGCR8_ENST00000383024.2_Missense_Mutation_p.G509V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	509	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AACCCCAACGGGAAATCCGAG	0.473																																							uc002zri.2		NA																	0					0						c.(1525-1527)GGG>GTG		DiGeorge syndrome critical region gene 8							116.0	99.0	105.0					22																	20079413		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079413G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1526G>T	22.37:g.20079413G>T	ENSP00000263209:p.Gly509Val					DGCR8_uc010grz.2_Missense_Mutation_p.G509V|DGCR8_uc002zrj.2_Missense_Mutation_p.G152V	p.G509V	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			7	1876	+	Colorectal(54;0.0993)		509			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1526G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124321	0.77436	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.60424	0.59;0.19;0.19	5.49	5.49	0.81192	Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.989	D;P	0.67548	0.952;0.737	T	0.75377	-0.3339	10	0.54805	T	0.06	-15.8139	18.94	0.92601	0.0:0.0:1.0:0.0	.	509;509	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	509	ENSP00000263209:G509V;ENSP00000372488:G509V;ENSP00000384726:G509V	ENSP00000263209:G509V	G	+	2	0	DGCR8	18459413	1.000000	0.71417	0.960000	0.40013	0.412000	0.31113	9.476000	0.97823	2.565000	0.86533	0.491000	0.48974	GGG		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			11	21	1	0	1.58986e-06	0.008291	1.77063e-06	11	21				
PI4KA	5297	broad.mit.edu	37	22	21157563	21157563	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:21157563C>T	ENST00000572273.1	-	13	1563	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	PI4KA_ENST00000255882.6_Missense_Mutation_p.V503M			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	445					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACGGTGTCACAGAGTGCACC	0.552																																					GBM(136;1332 1831 3115 23601 50806)	GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(1333-1335)GTG>ATG		phosphatidylinositol 4-kinase type 3 alpha							176.0	128.0	144.0					22																	21157563		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21157563C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1333G>A	22.37:g.21157563C>T	ENSP00000458238:p.Val445Met					PI4KA_uc010gsq.1_Missense_Mutation_p.V503M	p.V445M	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		13	1564	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	445					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1333G>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863254	0.91511	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.89	4.89	0.63831	.	0.122202	0.56097	D	0.000039	T	0.63331	0.2502	L	0.38175	1.15	0.80722	D	1	D;P	0.57571	0.98;0.833	P;P	0.56700	0.804;0.45	T	0.63157	-0.6700	9	0.42905	T	0.14	-27.2414	18.2178	0.89892	0.0:1.0:0.0:0.0	.	503;445	D3DX33;P42356	.;PI4KA_HUMAN	M	445	.	ENSP00000255882:V445M	V	-	1	0	PI4KA	19487563	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	7.643000	0.83403	2.533000	0.85409	0.491000	0.48974	GTG		0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	81	0	0	0	0.00245	0	15	81				
SLC7A4	6545	broad.mit.edu	37	22	21385901	21385901	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:21385901A>T	ENST00000382932.2	-	2	268	c.201T>A	c.(199-201)gcT>gcA	p.A67A	SLC7A4_ENST00000403586.1_Silent_p.A67A|AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	67					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCAGGGCCAGCCACCTCCT	0.662																																							uc002zud.2		NA																	0				ovary(1)|lung(1)	2						c.(199-201)GCT>GCA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						83.0	62.0	69.0					22																	21385901		2203	4299	6502	SO:0001819	synonymous_variant	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385901A>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.201T>A	22.37:g.21385901A>T						SLC7A4_uc002zue.2_Silent_p.A67A	p.A67A	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	269	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	67			Helical; (Potential).		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	c.201T>A	CCDS33608.1																																																																																				0.662	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		12	37	0	0	0	0.001368	0	12	37				
CCDC157	550631	broad.mit.edu	37	22	30771484	30771484	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:30771484C>T	ENST00000405659.1	+	10	2398	c.1689C>T	c.(1687-1689)agC>agT	p.S563S	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.S563S			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	563										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GATCCAGCAGCGTGGAATCCC	0.582																																							uc011aku.1		NA																	0				central_nervous_system(1)	1						c.(1687-1689)AGC>AGT		coiled-coil domain containing 157							105.0	84.0	91.0					22																	30771484		2203	4300	6503	SO:0001819	synonymous_variant	550631							g.chr22:30771484C>T	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1689C>T	22.37:g.30771484C>T						CCDC157_uc011akv.1_Silent_p.S563S|uc003aho.1_5'Flank	p.S563S	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			10	2349	+			563					Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	c.1689C>T	CCDS33632.2																																																																																				0.582	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		12	71	0	0	0	0.001855	0	12	71				
PES1	23481	broad.mit.edu	37	22	30985197	30985197	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:30985197G>C	ENST00000354694.7	-	2	191	c.85C>G	c.(85-87)Ctg>Gtg	p.L29V	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.L29V|PES1_ENST00000402284.3_Missense_Mutation_p.L29V|PES1_ENST00000402281.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCAAGCTCAGCTGGAGCTTC	0.498																																							uc003aij.1		NA																	0					0						c.(85-87)CTG>GTG		pescadillo homolog 1, containing BRCT domain							70.0	59.0	63.0					22																	30985197		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30985197G>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.85C>G	22.37:g.30985197G>C	ENSP00000346725:p.Leu29Val					PES1_uc003aik.1_Missense_Mutation_p.L29V|PES1_uc003ail.1_Missense_Mutation_p.L29V|PES1_uc003aim.1_Missense_Mutation_p.L29V|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	p.L29V	NM_014303	NP_055118	O00541	PESC_HUMAN			2	159	-			29			Sufficient for nucleolar localization.|Required for 28S ribosomal RNA processing.			Missense_Mutation	SNP	ENST00000354694.7	37	c.85C>G	CCDS13880.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165189	0.57476	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.61553	0.2356	L	0.41824	1.3	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.98;0.994	D;D;P;D	0.71656	0.964;0.974;0.606;0.964	T	0.63817	-0.6551	10	0.87932	D	0	-14.8557	17.8404	0.88713	0.0:0.0:1.0:0.0	.	29;29;29;29	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	V	29	ENSP00000346725:L29V;ENSP00000384252:L29V;ENSP00000334612:L29V;ENSP00000388071:L29V	ENSP00000334612:L29V	L	-	1	2	PES1	29315197	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.907000	0.56348	2.558000	0.86282	0.650000	0.86243	CTG		0.498	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321188.3	NM_014303		3	27	0	0	0	0.004672	0	3	27				
LARGE	9215	broad.mit.edu	37	22	33700296	33700296	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:33700296G>A	ENST00000354992.2	-	13	2220	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V	LARGE_ENST00000397394.2_Missense_Mutation_p.A550V|LARGE_ENST00000337431.2_Missense_Mutation_p.A498V|LARGE_ENST00000402320.1_Missense_Mutation_p.A498V|LARGE_ENST00000452586.2_Missense_Mutation_p.A349V|LARGE_ENST00000437602.2_Missense_Mutation_p.A550V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	550					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGCTTCATGGCCACGTTGCG	0.572																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1648-1650)GCC>GTC		like-glycosyltransferase							183.0	142.0	156.0					22																	33700296		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700296G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1649C>T	22.37:g.33700296G>A	ENSP00000347088:p.Ala550Val					LARGE_uc011amd.1_Missense_Mutation_p.A349V|LARGE_uc003ane.3_Missense_Mutation_p.A550V|LARGE_uc010gwp.2_Missense_Mutation_p.A498V|LARGE_uc011ame.1_Missense_Mutation_p.A482V|LARGE_uc011amf.1_Missense_Mutation_p.A550V	p.A550V	NM_004737	NP_004728	O95461	LARGE_HUMAN			13	2228	-		Lung NSC(1;0.219)	550			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1649C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229426	0.95173	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.56611	0.45;0.93;0.45;0.93;0.45;0.93	5.32	5.32	0.75619	.	0.046718	0.85682	D	0.000000	T	0.81293	0.4792	H	0.94385	3.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.997;0.996	D	0.86734	0.1950	10	0.87932	D	0	-13.3589	19.0114	0.92874	0.0:0.0:1.0:0.0	.	550;349;498;550	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	V	227;227;550;498;550;498;349;550	ENSP00000347088:A550V;ENSP00000336636:A498V;ENSP00000380549:A550V;ENSP00000385223:A498V;ENSP00000407917:A349V;ENSP00000388544:A550V	ENSP00000336636:A498V	A	-	2	0	LARGE	32030296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.178000	0.94855	2.494000	0.84150	0.557000	0.71058	GCC		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		7	112	0	0	0	0.001984	0	7	112				
LGALS1	3956	broad.mit.edu	37	22	38075703	38075703	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:38075703A>G	ENST00000215909.5	+	4	450	c.355A>G	c.(355-357)Aac>Gac	p.N119D	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	119	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					GGAGGCCATCAACTACATGGC	0.562																																					Pancreas(23;406 890 14304 26016)	Pancreas(23;406 890 14304 26016)	uc003atn.2		NA																	0					0						c.(355-357)AAC>GAC		galectin-1							140.0	109.0	119.0					22																	38075703		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075703A>G		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.355A>G	22.37:g.38075703A>G	ENSP00000215909:p.Asn119Asp						p.N119D	NM_002305	NP_002296	P09382	LEG1_HUMAN			4	452	+	Melanoma(58;0.0574)		119			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.355A>G	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731235	0.30684	.	.	ENSG00000100097	ENST00000215909	T	0.05199	3.48	6.08	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.425732	0.29342	N	0.012421	T	0.04679	0.0127	N	0.25332	0.735	0.34678	D	0.724381	B	0.02656	0.0	B	0.11329	0.006	T	0.29150	-1.0021	10	0.10902	T	0.67	-0.0074	9.356	0.38166	0.8535:0.0:0.1465:0.0	.	119	P09382	LEG1_HUMAN	D	119	ENSP00000215909:N119D	ENSP00000215909:N119D	N	+	1	0	LGALS1	36405649	0.593000	0.26840	0.998000	0.56505	0.981000	0.71138	1.309000	0.33539	1.088000	0.41272	0.533000	0.62120	AAC		0.562	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		21	76	0	0	0	0.00333	0	21	76				
BAIAP2L2	80115	broad.mit.edu	37	22	38503887	38503887	+	Missense_Mutation	SNP	C	C	T	rs554528952		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:38503887C>T	ENST00000381669.3	-	4	392	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.R83Q	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	83	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GTTCAAGTGCCGCTGGGTGTC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17092	0.0		0.0	False		,,,				2504	0.0						uc003auw.2		NA																	0				pancreas(1)	1						c.(247-249)CGG>CAG		BAI1-associated protein 2-like 2							103.0	109.0	107.0					22																	38503887		2065	4207	6272	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38503887C>T	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.248G>A	22.37:g.38503887C>T	ENSP00000371085:p.Arg83Gln						p.R83Q	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN			4	392	-	Melanoma(58;0.045)		83			IMD.		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.248G>A	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153356	0.57259	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	4.33	4.33	0.51752	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.78049	2.395	0.43448	D	0.995634	D	0.89917	1.0	P	0.62435	0.902	T	0.78700	-0.2102	9	0.72032	D	0.01	-22.5264	11.5035	0.50451	0.1792:0.8208:0.0:0.0	.	83	Q6UXY1	BI2L2_HUMAN	Q	83	.	ENSP00000328876:R83Q	R	-	2	0	BAIAP2L2	36833833	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.270000	0.51600	2.128000	0.65567	0.407000	0.27541	CGG		0.622	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		20	89	0	0	0	0.010504	0	20	89				
DNAL4	10126	broad.mit.edu	37	22	39176983	39176983	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:39176983T>G	ENST00000216068.4	-	3	345	c.101A>C	c.(100-102)gAg>gCg	p.E34A	SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.E34A	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	34					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					CTCCATGGTCTCCACGCGCAT	0.577																																							uc003awj.2		NA																	0					0						c.(100-102)GAG>GCG		dynein light chain 4, axonemal							137.0	110.0	119.0					22																	39176983		2203	4300	6503	SO:0001583	missense	10126				microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity	g.chr22:39176983T>G	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"""Axonemal dyneins"""	2955	protein-coding gene	gene with protein product		610565	"""dynein, axonemal, light polypeptide 4"", ""dynein, axonemal, light 4"""			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.101A>C	22.37:g.39176983T>G	ENSP00000216068:p.Glu34Ala					SUN2_uc010gxr.1_Intron	p.E34A	NM_005740	NP_005731	O96015	DNAL4_HUMAN			3	329	-	Melanoma(58;0.04)		34					Q6FGB2|Q6FGD0	Missense_Mutation	SNP	ENST00000216068.4	37	c.101A>C	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801650	0.90538	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.01	5.01	0.66863	.	0.114692	0.64402	D	0.000009	D	0.84999	0.5597	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88561	0.3123	9	0.72032	D	0.01	.	14.7308	0.69379	0.0:0.0:0.0:1.0	.	34	O96015	DNAL4_HUMAN	A	34	.	ENSP00000216068:E34A	E	-	2	0	DNAL4	37506929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.675000	0.84002	1.881000	0.54492	0.459000	0.35465	GAG		0.577	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	NM_005740		9	38	0	0	0	0.008291	0	9	38				
EP300	2033	broad.mit.edu	37	22	41556648	41556648	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:41556648A>T	ENST00000263253.7	+	20	4812	c.3593A>T	c.(3592-3594)tAt>tTt	p.Y1198F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1198					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCGACAGGTATCATTTCTGT	0.502			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																														uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Deletion - In frame(1)	p.Y1198_L1243del(1)	breast(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3592-3594)TAT>TTT		E1A binding protein p300							145.0	115.0	125.0					22																	41556648		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybsyndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556648A>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3593A>T	22.37:g.41556648A>T	ENSP00000263253:p.Tyr1198Phe						p.Y1198F	NM_001429	NP_001420	Q09472	EP300_HUMAN			20	3988	+			1198					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3593A>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622708	0.66787	.	.	ENSG00000100393	ENST00000263253	D	0.85702	-2.02	5.51	4.47	0.54385	.	0.156689	0.29638	N	0.011595	D	0.87406	0.6169	M	0.89601	3.045	0.43924	D	0.996574	B	0.10296	0.003	B	0.10450	0.005	D	0.84563	0.0651	10	0.87932	D	0	-3.2422	11.8916	0.52633	0.8693:0.0:0.0:0.1307	.	1198	Q09472	EP300_HUMAN	F	1198	ENSP00000263253:Y1198F	ENSP00000263253:Y1198F	Y	+	2	0	EP300	39886594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	0.906000	0.36621	0.455000	0.32223	TAT		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		13	50	0	0	0	0.00245	0	13	50				
MCAT	27349	broad.mit.edu	37	22	43533109	43533109	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:43533109C>A	ENST00000290429.6	-	3	752	c.707G>T	c.(706-708)aGg>aTg	p.R236M	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	236					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAAATCACCCTGCAATCTGG	0.527											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003bdl.1		NA																	0				ovary(1)	1						c.(706-708)AGG>ATG		mitochondrial malonyltransferase isoform a							196.0	187.0	190.0					22																	43533109		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43533109C>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.707G>T	22.37:g.43533109C>A	ENSP00000290429:p.Arg236Met		OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917	MCAT_uc003bdm.1_Intron	p.R236M	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			3	756	-		Ovarian(80;0.0694)	236					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.707G>T	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008516	0.75046	.	.	ENSG00000100294	ENST00000290429	T	0.40756	1.02	5.13	3.04	0.35103	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.72118	2.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.75020	0.985	T	0.59392	-0.7463	10	0.51188	T	0.08	-29.0268	11.4161	0.49954	0.0:0.8531:0.0:0.1469	.	236	Q8IVS2	FABD_HUMAN	M	236	ENSP00000290429:R236M	ENSP00000290429:R236M	R	-	2	0	MCAT	41863053	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.657000	0.54474	0.569000	0.29329	0.591000	0.81541	AGG		0.527	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		15	223	1	0	8.00594e-06	0.007413	8.78253e-06	15	223				
IL17REL	400935	broad.mit.edu	37	22	50437719	50437719	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:50437719C>T	ENST00000389983.2	-	9	866		c.e9+1		IL17REL_ENST00000341280.5_Splice_Site	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like											endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGACACTTGCCGTTTTCAAA	0.647																																							uc003bje.1		NA																	0				pancreas(1)	1						c.e9+1		interleukin 17 receptor E-like							70.0	72.0	71.0					22																	50437719		2202	4300	6502	SO:0001630	splice_region_variant	400935							g.chr22:50437719C>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.601+1G>A	22.37:g.50437719C>T							p.D201_splice	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	9	833	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)						A6NCN4|A6PVC1	Splice_Site	SNP	ENST00000389983.2	37	c.601_splice	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.109072	0.37242	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7652	0.34698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL17REL	48779846	0.959000	0.32827	0.783000	0.31826	0.443000	0.32047	2.396000	0.44468	1.373000	0.46208	0.561000	0.74099	.		0.647	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694	Intron	18	58	0	0	0	0.008871	0	18	58				
CNTN6	27255	broad.mit.edu	37	3	1424651	1424651	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:1424651G>T	ENST00000446702.2	+	18	2819	c.2192G>T	c.(2191-2193)gGg>gTg	p.G731V	CNTN6_ENST00000350110.2_Missense_Mutation_p.G731V|CNTN6_ENST00000539053.1_Missense_Mutation_p.G659V			Q9UQ52	CNTN6_HUMAN	contactin 6	731	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGCAGAATGGGGAGGGATTT	0.393																																							uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2191-2193)GGG>GTG		contactin 6 precursor							99.0	95.0	97.0					3																	1424651		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424651G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2192G>T	3.37:g.1424651G>T	ENSP00000407822:p.Gly731Val					CNTN6_uc011asj.1_Missense_Mutation_p.G659V|CNTN6_uc003bpa.2_Missense_Mutation_p.G731V	p.G731V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2459	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	731			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2192G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875254	0.91664	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65549	-0.16;-0.16;-0.16	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	D	0.87047	0.6080	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89824	0.3991	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	731	Q9UQ52	CNTN6_HUMAN	V	731;659;731	ENSP00000407822:G731V;ENSP00000442791:G659V;ENSP00000341882:G731V	ENSP00000341882:G731V	G	+	2	0	CNTN6	1399651	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.269000	0.95684	2.894000	0.99253	0.655000	0.94253	GGG		0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		13	49	1	0	9.31168e-06	0.001855	1.0188e-05	13	49				
CNTN4	152330	broad.mit.edu	37	3	3084680	3084680	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:3084680A>G	ENST00000397461.1	+	21	2915	c.2531A>G	c.(2530-2532)gAa>gGa	p.E844G	CNTN4_ENST00000427331.1_Missense_Mutation_p.E844G|CNTN4_ENST00000418658.1_Missense_Mutation_p.E844G|CNTN4_ENST00000358480.3_Missense_Mutation_p.E625G|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.E516G|CNTN4_ENST00000397459.2_Missense_Mutation_p.E516G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	844	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGAGACATGAAGACAAAGAA	0.363																																							uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2530-2532)GAA>GGA		contactin 4 isoform a precursor							70.0	66.0	67.0					3																	3084680		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084680A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2531A>G	3.37:g.3084680A>G	ENSP00000380602:p.Glu844Gly					CNTN4_uc003bpb.1_Missense_Mutation_p.E515G|CNTN4_uc003bpe.2_Missense_Mutation_p.E516G|CNTN4_uc003bpf.2_Missense_Mutation_p.E515G|CNTN4_uc003bpg.2_Missense_Mutation_p.E100G	p.E844G	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2752	+		Ovarian(110;0.156)	844			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2531A>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854058	0.51270	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.452993	0.25497	N	0.030266	T	0.21022	0.0506	N	0.01134	-0.995	0.25021	N	0.991339	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13710	-1.0499	9	.	.	.	.	10.33	0.43816	0.9224:0.0:0.0776:0.0	.	843;844	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	G	844;844;844;625;516;516	ENSP00000396010:E844G;ENSP00000380602:E844G;ENSP00000413642:E844G;ENSP00000351267:E625G;ENSP00000380600:E516G;ENSP00000392077:E516G	.	E	+	2	0	CNTN4	3059680	0.995000	0.38212	0.976000	0.42696	0.998000	0.95712	3.054000	0.49908	2.025000	0.59659	0.533000	0.62120	GAA		0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	18	0	0	0	0.009096	0	3	18				
BRPF1	7862	broad.mit.edu	37	3	9781262	9781262	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:9781262C>T	ENST00000457855.1	+	2	1190	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	BRPF1_ENST00000424362.1_Silent_p.G393G|BRPF1_ENST00000383829.2_Silent_p.G393G|BRPF1_ENST00000433861.2_Silent_p.G393G|BRPF1_ENST00000302054.3_Silent_p.G393G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	393					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AACAACGGGGCTCAGGGGCCT	0.557																																							uc003bse.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1177-1179)GGC>GGT		bromodomain and PHD finger-containing protein 1							74.0	75.0	75.0					3																	9781262		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781262C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1179C>T	3.37:g.9781262C>T						BRPF1_uc003bsf.2_Silent_p.G393G|BRPF1_uc003bsg.2_Silent_p.G393G|BRPF1_uc011ati.1_Silent_p.G393G	p.G393G	NM_004634	NP_004625	P55201	BRPF1_HUMAN			3	1578	+	Medulloblastoma(99;0.227)		393			C4-type.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.1179C>T	CCDS2575.1																																																																																				0.557	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		9	82	0	0	0	0.004482	0	9	82				
HACL1	26061	broad.mit.edu	37	3	15621450	15621450	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:15621450T>C	ENST00000321169.5	-	9	1137	c.770A>G	c.(769-771)aAc>aGc	p.N257S	HACL1_ENST00000451445.2_Missense_Mutation_p.N175S|HACL1_ENST00000457447.2_Missense_Mutation_p.N231S|HACL1_ENST00000456194.2_Missense_Mutation_p.N230S|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	257					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GTATGGATGGTTGTCAGGGAC	0.428																																							uc003caf.2		NA																	0					0						c.(769-771)AAC>AGC		2-hydroxyphytanoyl-CoA lyase							118.0	108.0	111.0					3																	15621450		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15621450T>C	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.770A>G	3.37:g.15621450T>C	ENSP00000323811:p.Asn257Ser					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.N230S|HACL1_uc011avt.1_Missense_Mutation_p.N231S|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.N175S|HACL1_uc010hep.2_Intron	p.N257S	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			9	930	-			257					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.770A>G	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	T	5.726	0.318486	0.10845	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.65	3.27	0.37495	Thiamine pyrophosphate enzyme, central domain (1);	0.220279	0.53938	N	0.000050	T	0.22859	0.0552	N	0.10945	0.07	0.37355	D	0.910956	B;B;B;B	0.25850	0.136;0.045;0.1;0.1	B;B;B;B	0.25405	0.049;0.038;0.06;0.06	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.6723	0.40019	0.0:0.1426:0.0:0.8574	.	175;231;230;257	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	S	257;175;230;231;230	ENSP00000323811:N257S;ENSP00000403656:N175S;ENSP00000390699:N230S;ENSP00000404883:N231S;ENSP00000391393:N230S	ENSP00000323811:N257S	N	-	2	0	HACL1	15596454	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.701000	0.54793	0.430000	0.26230	0.460000	0.39030	AAC		0.428	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		20	71	0	0	0	0.001882	0	20	71				
SATB1	6304	broad.mit.edu	37	3	18458546	18458546	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:18458546A>G	ENST00000338745.6	-	3	1970	c.236T>C	c.(235-237)gTg>gCg	p.V79A	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.V79A|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.V79A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	79					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCCACCACACAGAAAAC	0.428																																							uc003cbh.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(235-237)GTG>GCG		special AT-rich sequence binding protein 1							104.0	98.0	100.0					3																	18458546		2203	4299	6502	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18458546A>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.236T>C	3.37:g.18458546A>G	ENSP00000341024:p.Val79Ala					SATB1_uc003cbi.2_Missense_Mutation_p.V79A|SATB1_uc003cbj.2_Missense_Mutation_p.V79A	p.V79A	NM_002971	NP_002962	Q01826	SATB1_HUMAN			3	1971	-			79					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.236T>C	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406892	0.62399	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.33	5.33	0.75918	.	0.061176	0.64402	D	0.000004	T	0.68943	0.3056	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.66979	0.948;0.888	T	0.72673	-0.4222	10	0.87932	D	0	-19.7418	15.5967	0.76587	1.0:0.0:0.0:0.0	.	79;79	Q01826-2;Q01826	.;SATB1_HUMAN	A	79	ENSP00000341024:V79A;ENSP00000399708:V79A;ENSP00000399518:V79A;ENSP00000402982:V79A;ENSP00000406727:V79A;ENSP00000390529:V79A;ENSP00000398072:V79A;ENSP00000408871:V79A	ENSP00000341024:V79A	V	-	2	0	SATB1	18433550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.138000	0.66242	0.459000	0.35465	GTG		0.428	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		19	69	0	0	0	0.010504	0	19	69				
THRB	7068	broad.mit.edu	37	3	24231827	24231827	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:24231827T>C	ENST00000356447.4	-	4	307		c.e4-2		THRB_ENST00000416420.1_Splice_Site|THRB_ENST00000396671.2_Splice_Site	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta						female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGCCATTTTCTAAAGGGTTGA	0.463																																					Melanoma(21;896 1043 15021 37958)	Melanoma(21;896 1043 15021 37958)	uc003ccx.3		NA																	0				skin(2)|pancreas(1)	3						c.e5-1		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						114.0	106.0	108.0					3																	24231827		2203	4300	6503	SO:0001630	splice_region_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231827T>C		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.23-2A>G	3.37:g.24231827T>C						THRB_uc010hfe.2_Splice_Site_p.E8_splice|THRB_uc003ccy.3_Splice_Site_p.E8_splice|THRB_uc003ccz.3_Splice_Site_p.E3_splice|THRB_uc003cdc.2_Splice_Site_p.E3_splice|THRB_uc003cdd.2_Splice_Site_p.E3_splice|THRB_uc003cde.1_Splice_Site_p.E3_splice	p.E8_splice	NM_001128176	NP_001121648	P10828	THB_HUMAN			5	372	-								B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Splice_Site	SNP	ENST00000356447.4	37	c.23_splice	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654328	0.67472	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414;ENST00000428492;ENST00000418247	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3074	0.26455	0.1291:0.0692:0.0:0.8018	.	.	.	.	.	-1	.	.	.	-	.	.	THRB	24206831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.845000	0.48254	2.263000	0.75096	0.533000	0.62120	.		0.463	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	Intron	21	54	0	0	0	0.010504	0	21	54				
TOP2B	7155	broad.mit.edu	37	3	25668743	25668743	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:25668743C>A	ENST00000264331.4	-	16	1950	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	TOP2B_ENST00000435706.2_Missense_Mutation_p.D646Y	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	651					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTTCCATATCAGCAAAATAT	0.333																																							uc011awn.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1951-1953)GAT>TAT		DNA topoisomerase II, beta isozyme							171.0	169.0	170.0					3																	25668743		1887	4109	5996	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668743C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1951G>T	3.37:g.25668743C>A	ENSP00000264331:p.Asp651Tyr					TOP2B_uc003cdj.2_Missense_Mutation_p.D646Y	p.D651Y	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			16	1994	-			651					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1951G>T		.	.	.	.	.	.	.	.	.	.	C	27.6	4.842364	0.91197	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.55052	0.54;0.54	5.47	5.47	0.80525	.	0.083910	0.85682	D	0.000000	T	0.79839	0.4515	M	0.93763	3.455	0.80722	D	1	D	0.56035	0.974	D	0.63877	0.919	D	0.84774	0.0769	10	0.87932	D	0	0.0084	19.6613	0.95875	0.0:1.0:0.0:0.0	.	646	Q02880-2	.	Y	646;651;646	ENSP00000396704:D646Y;ENSP00000264331:D651Y	ENSP00000264331:D651Y	D	-	1	0	TOP2B	25643747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.711000	0.92665	0.650000	0.86243	GAT		0.333	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				30	93	1	0	4.34311e-12	0.003271	5.29689e-12	30	93				
ZNF860	344787	broad.mit.edu	37	3	32031830	32031830	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:32031830A>G	ENST00000360311.4	+	2	1808	c.1259A>G	c.(1258-1260)cAt>cGt	p.H420R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TGGAGAATCCATAATGAAGAG	0.358																																							uc011axg.1		NA																	0				ovary(1)	1						c.(1258-1260)CAT>CGT		zinc finger protein 860							57.0	58.0	57.0					3																	32031830		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031830A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1259A>G	3.37:g.32031830A>G	ENSP00000373274:p.His420Arg						p.H420R	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1808	+			420			C2H2-type 7.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1259A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068282	0.36470	.	.	ENSG00000197385	ENST00000360311	D	0.81908	-1.55	0.336	0.336	0.15958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89079	0.6613	M	0.90309	3.105	0.25838	N	0.984083	P	0.39391	0.671	P	0.54312	0.748	T	0.80603	-0.1309	8	.	.	.	.	4.9796	0.14158	0.9998:0.0:2.0E-4:0.0	.	420	A6NHJ4	ZN860_HUMAN	R	420	ENSP00000373274:H420R	.	H	+	2	0	ZNF860	32006834	0.996000	0.38824	0.012000	0.15200	0.011000	0.07611	4.340000	0.59328	0.327000	0.23409	0.317000	0.21355	CAT		0.358	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			16	42	0	0	0	0.003163	0	16	42				
OXSR1	9943	broad.mit.edu	37	3	38294360	38294360	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:38294360T>C	ENST00000311806.3	+	18	1934	c.1562T>C	c.(1561-1563)tTt>tCt	p.F521S		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGATAGGATTTGCCCAGCTC	0.433																																							uc003chy.2		NA																	0				skin(1)	1						c.(1561-1563)TTT>TCT		oxidative-stress responsive 1							123.0	113.0	117.0					3																	38294360		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38294360T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1562T>C	3.37:g.38294360T>C	ENSP00000311713:p.Phe521Ser					OXSR1_uc010hhb.2_Missense_Mutation_p.F455S	p.F521S	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	18	1904	+			521						Missense_Mutation	SNP	ENST00000311806.3	37	c.1562T>C	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129278	0.77549	.	.	ENSG00000172939	ENST00000311806	T	0.77620	-1.11	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89247	0.3588	10	0.87932	D	0	-15.6962	12.852	0.57862	0.0:0.0:0.0:1.0	.	521	O95747	OXSR1_HUMAN	S	521	ENSP00000311713:F521S	ENSP00000311713:F521S	F	+	2	0	OXSR1	38269364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	2.037000	0.60232	0.477000	0.44152	TTT		0.433	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		16	42	0	0	0	0.006122	0	16	42				
SCN10A	6336	broad.mit.edu	37	3	38835492	38835492	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:38835492G>T	ENST00000449082.2	-	1	9	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	4					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATCCAATGGGGAATTCCATC	0.473																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(10-12)CCC>ACC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						143.0	145.0	144.0					3																	38835492		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835492G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.10C>A	3.37:g.38835492G>T	ENSP00000390600:p.Pro4Thr						p.P4T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	10	-			4					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.10C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934448	0.18206	.	.	ENSG00000185313	ENST00000449082	D	0.96168	-3.93	5.05	2.22	0.28083	.	0.887861	0.09955	N	0.734212	D	0.90710	0.7085	L	0.36672	1.1	0.25749	N	0.985077	B	0.14805	0.011	B	0.12837	0.008	T	0.82705	-0.0325	10	0.66056	D	0.02	.	3.4118	0.07361	0.2533:0.0:0.4312:0.3154	.	4	Q9Y5Y9	SCNAA_HUMAN	T	4	ENSP00000390600:P4T	ENSP00000390600:P4T	P	-	1	0	SCN10A	38810496	0.944000	0.32072	0.994000	0.49952	0.185000	0.23345	2.460000	0.45031	0.713000	0.32060	-0.217000	0.12591	CCC		0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		20	87	1	0	1.37657e-19	0.001882	1.76541e-19	20	87				
ULK4	54986	broad.mit.edu	37	3	41831195	41831195	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:41831195C>A	ENST00000301831.4	-	21	2613	c.2151G>T	c.(2149-2151)atG>atT	p.M717I		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	717					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CACAGGACAACATGGCAGCGA	0.378																																							uc003ckv.3		NA																	0					0						c.(2149-2151)ATG>ATT		unc-51-like kinase 4							109.0	105.0	106.0					3																	41831195		1922	4123	6045	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41831195C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2151G>T	3.37:g.41831195C>A	ENSP00000301831:p.Met717Ile					ULK4_uc003ckw.2_Missense_Mutation_p.M717I	p.M717I	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	21	2352	-			717					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2151G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298748	0.60195	.	.	ENSG00000168038	ENST00000301831	T	0.61627	0.09	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (2);	0.335796	0.30667	U	0.009132	T	0.55705	0.1937	L	0.46157	1.445	0.80722	D	1	B;B	0.31435	0.212;0.323	B;B	0.30316	0.079;0.114	T	0.54879	-0.8227	10	0.56958	D	0.05	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	717;717	B4E2M4;Q96C45	.;ULK4_HUMAN	I	717	ENSP00000301831:M717I	ENSP00000301831:M717I	M	-	3	0	ULK4	41806199	1.000000	0.71417	0.651000	0.29564	0.953000	0.61014	6.197000	0.72100	2.802000	0.96397	0.655000	0.94253	ATG		0.378	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		23	64	1	0	9.86323e-18	0.003954	1.25203e-17	23	64				
TRAK1	22906	broad.mit.edu	37	3	42264609	42264609	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:42264609G>T	ENST00000327628.5	+	16	2642	c.2242G>T	c.(2242-2244)Ggc>Tgc	p.G748C	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.G690C|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	748					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAAGGAGCGGGGCATTTCTGC	0.637																																					GBM(44;195 884 22595 31865 41850)	GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	0				ovary(1)	1						c.(2242-2244)GGC>TGC		OGT(O-Glc-NAc transferase)-interacting protein							48.0	58.0	54.0					3																	42264609		2039	4178	6217	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264609G>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2242G>T	3.37:g.42264609G>T	ENSP00000328998:p.Gly748Cys					TRAK1_uc011azi.1_Missense_Mutation_p.G727C	p.G748C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			16	2458	+			748					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2242G>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689974	0.88735	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.56103	0.48;0.48	5.32	5.32	0.75619	Trafficking kinesin-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72083	-0.4397	10	0.87932	D	0	.	17.9738	0.89121	0.0:0.0:1.0:0.0	.	690;748	C9JC32;Q9UPV9	.;TRAK1_HUMAN	C	748;727;690	ENSP00000328998:G748C;ENSP00000379478:G690C	ENSP00000328998:G748C	G	+	1	0	TRAK1	42239613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.790000	0.99075	2.514000	0.84764	0.591000	0.81541	GGC		0.637	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		11	36	1	0	3.07112e-06	0.000978	3.39597e-06	11	36				
POMGNT2	84892	broad.mit.edu	37	3	43122848	43122848	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:43122848G>A	ENST00000344697.2	-	2	421	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R26C	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	26					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GCATGCTCACGCAGCCGCACA	0.637																																							uc003cmq.1		NA																	0				ovary(1)|skin(1)	2						c.(76-78)CGT>TGT		glycosyltransferase precursor							27.0	23.0	24.0					3																	43122848		2203	4299	6502	SO:0001583	missense	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43122848G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.76C>T	3.37:g.43122848G>A	ENSP00000344125:p.Arg26Cys					C3orf39_uc003cmr.1_Missense_Mutation_p.R26C	p.R26C	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	217	-			26					B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.76C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280343	0.23392	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.78481	-1.18;-1.18	5.75	4.87	0.63330	.	0.238703	0.42682	D	0.000662	T	0.69602	0.3129	L	0.47716	1.5	0.44937	D	0.997951	B	0.09022	0.002	B	0.04013	0.001	T	0.66044	-0.6021	10	0.49607	T	0.09	-10.0692	9.0676	0.36473	0.2259:0.0:0.7741:0.0	.	26	Q8NAT1	AGO61_HUMAN	C	26	ENSP00000408992:R26C;ENSP00000344125:R26C	ENSP00000344125:R26C	R	-	1	0	C3orf39	43097852	1.000000	0.71417	0.891000	0.34965	0.694000	0.40290	3.064000	0.49986	1.425000	0.47237	0.561000	0.74099	CGT		0.637	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		5	28	0	0	0	0.000602	0	5	28				
CELSR3	1951	broad.mit.edu	37	3	48680236	48680236	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:48680236A>C	ENST00000164024.4	-	30	8768	c.8488T>G	c.(8488-8490)Tct>Gct	p.S2830A	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.S2835A	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2830					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGCTCACAGAGGAGACGGTG	0.652																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(8488-8490)TCT>GCT		cadherin EGF LAG seven-pass G-type receptor 3							51.0	58.0	56.0					3																	48680236		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48680236A>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8488T>G	3.37:g.48680236A>C	ENSP00000164024:p.Ser2830Ala					CELSR3_uc003cuf.1_Missense_Mutation_p.S2928A|CELSR3_uc010hkf.2_Missense_Mutation_p.S120A|CELSR3_uc010hkg.2_Missense_Mutation_p.S813A	p.S2830A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	30	8769	-			2830			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8488T>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123238	0.77436	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70516	-0.49;-0.49	5.52	5.52	0.82312	.	.	.	.	.	T	0.81356	0.4805	M	0.63428	1.95	0.54753	D	0.999985	D;D;D	0.64830	0.987;0.972;0.994	P;P;D	0.72625	0.869;0.675;0.978	T	0.79804	-0.1649	9	0.33141	T	0.24	.	15.6403	0.76993	1.0:0.0:0.0:0.0	.	2835;2830;2928	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	A	2830;2835	ENSP00000164024:S2830A;ENSP00000445694:S2835A	ENSP00000164024:S2830A	S	-	1	0	CELSR3	48655240	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.705000	0.74644	2.106000	0.64143	0.459000	0.35465	TCT		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	35	0	0	0	0.001984	0	7	35				
CELSR3	1951	broad.mit.edu	37	3	48697504	48697504	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:48697504C>T	ENST00000164024.4	-	1	2844	c.2564G>A	c.(2563-2565)cGg>cAg	p.R855Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.R855Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	855	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAAGACCGGCCGATGAGTGTT	0.502																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2563-2565)CGG>CAG		cadherin EGF LAG seven-pass G-type receptor 3							175.0	163.0	167.0					3																	48697504		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697504C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2564G>A	3.37:g.48697504C>T	ENSP00000164024:p.Arg855Gln					CELSR3_uc003cuf.1_Missense_Mutation_p.R925Q	p.R855Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2845	-			855			Extracellular (Potential).|Cadherin 5.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2564G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879716	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01725	4.67;4.67	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08758	0.0217	L	0.52759	1.655	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.944	T	0.08106	-1.0738	9	0.48119	T	0.1	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	855;925	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	855	ENSP00000164024:R855Q;ENSP00000445694:R855Q	ENSP00000164024:R855Q	R	-	2	0	CELSR3	48672508	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.999000	0.70665	2.686000	0.91538	0.561000	0.74099	CGG		0.502	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		23	85	0	0	0	0.005443	0	23	85				
LAMB2	3913	broad.mit.edu	37	3	49166678	49166678	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:49166678T>C	ENST00000418109.1	-	13	1762	c.1598A>G	c.(1597-1599)cAg>cGg	p.Q533R	LAMB2_ENST00000305544.4_Splice_Site_p.Q533R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	533	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAACACTTACTGGGGATCCAA	0.592																																							uc003cwe.2		NA																	0				ovary(3)	3						c.(1597-1599)CAG>CGG		laminin, beta 2 precursor							53.0	58.0	56.0					3																	49166678		2203	4300	6503	SO:0001630	splice_region_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49166678T>C		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1598+1A>G	3.37:g.49166678T>C						LAMB2_uc003cwf.1_Missense_Mutation_p.Q533R	p.Q533R	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1897	-			533			Laminin EGF-like 5; truncated.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1598A>G	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	6.584	0.476073	0.12521	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61158	0.13;0.13	5.16	3.79	0.43588	EGF-like, laminin (3);	0.343086	0.30869	N	0.008704	T	0.39600	0.1084	N	0.25060	0.705	0.43457	D	0.995651	B	0.06786	0.001	B	0.08055	0.003	T	0.20438	-1.0275	9	.	.	.	.	10.8851	0.46962	0.0:0.136:0.0:0.864	.	533	P55268	LAMB2_HUMAN	R	533	ENSP00000388325:Q533R;ENSP00000307156:Q533R	.	Q	-	2	0	LAMB2	49141682	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.579000	0.36536	1.938000	0.56188	0.533000	0.62120	CAG		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	Missense_Mutation	7	70	0	0	0	0.006214	0	7	70				
APEH	327	broad.mit.edu	37	3	49720357	49720357	+	Silent	SNP	G	G	A	rs41290718	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:49720357G>A	ENST00000296456.5	+	20	2365	c.1965G>A	c.(1963-1965)tcG>tcA	p.S655S	AC099668.5_ENST00000563780.1_RNA|APEH_ENST00000438011.1_Silent_p.S660S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	655					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGACAAATCGCCCATCAGAT	0.597													G|||	11	0.00219649	0.0	0.0	5008	,	,		19917	0.0		0.008	False		,,,				2504	0.0031						uc003cxf.2		NA																	0				ovary(1)	1						c.(1963-1965)TCG>TCA		N-acylaminoacyl-peptide hydrolase		G		1,4405	4.2+/-10.8	0,1,2202	120.0	83.0	95.0		1965	-11.4	0.7	3	dbSNP_127	95	18,8580	14.6+/-50.1	0,18,4281	no	coding-synonymous	APEH	NM_001640.3		0,19,6483	AA,AG,GG		0.2094,0.0227,0.1461		655/733	49720357	19,12985	2203	4299	6502	SO:0001819	synonymous_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720357G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1965G>A	3.37:g.49720357G>A						APEH_uc010hkw.1_Silent_p.S660S	p.S655S	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	20	2365	+			655					Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1965G>A	CCDS2801.1																																																																																				0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	23	0	0	0	0.001168	0	5	23				
TEX264	51368	broad.mit.edu	37	3	51733556	51733556	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:51733556T>C	ENST00000415259.1	+	4	1696	c.615T>C	c.(613-615)ctT>ctC	p.L205L	TEX264_ENST00000395057.1_Silent_p.L205L|TEX264_ENST00000457573.1_Silent_p.L205L|TEX264_ENST00000416589.1_Silent_p.L205L|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000341333.5_Silent_p.L205L			Q9Y6I9	TX264_HUMAN	testis expressed 264	205						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGCGGGGGCTTGTGGAGGCCA	0.577																																							uc010hls.2		NA																	0					0						c.(613-615)CTT>CTC		testis expressed 264 precursor							93.0	96.0	95.0					3																	51733556		2203	4300	6503	SO:0001819	synonymous_variant	51368					extracellular region		g.chr3:51733556T>C	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.615T>C	3.37:g.51733556T>C						TEX264_uc003dbk.3_Silent_p.L205L|TEX264_uc010hlt.2_Silent_p.L25L|TEX264_uc003dbl.3_Silent_p.L205L|TEX264_uc003dbm.3_Silent_p.L244L	p.L205L	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	5	784	+			205					B3KN87|Q9UKD7	Silent	SNP	ENST00000415259.1	37	c.615T>C	CCDS2833.1																																																																																				0.577	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		11	110	0	0	0	0.008291	0	11	110				
ITIH1	3697	broad.mit.edu	37	3	52825838	52825838	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:52825838G>T	ENST00000273283.2	+	22	2671	c.2647G>T	c.(2647-2649)Gcc>Tcc	p.A883S	ITIH1_ENST00000540715.1_Missense_Mutation_p.A741S|ITIH3_ENST00000416872.2_5'Flank|ITIH1_ENST00000542827.1_3'UTR|ITIH3_ENST00000449956.2_5'Flank|ITIH1_ENST00000405128.3_Missense_Mutation_p.A249S|ITIH1_ENST00000537050.1_Missense_Mutation_p.A595S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	883	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGGCATGGGGCCGAGGTGTC	0.577																																							uc003dfs.2		NA																	0				ovary(3)	3						c.(2647-2649)GCC>TCC		inter-alpha (globulin) inhibitor H1							109.0	100.0	103.0					3																	52825838		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52825838G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2647G>T	3.37:g.52825838G>T	ENSP00000273283:p.Ala883Ser					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.G474V|ITIH1_uc010hmo.1_Missense_Mutation_p.A437S|ITIH1_uc003dfu.2_Missense_Mutation_p.A249S|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	p.A883S	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	22	2671	+			883			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2647G>T	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729380	0.15507	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.51	2.29	0.28610	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.640222	0.16710	N	0.202709	T	0.06781	0.0173	N	0.25286	0.73	0.09310	N	1	B;B;B	0.15719	0.002;0.009;0.014	B;B;B	0.22880	0.007;0.026;0.042	T	0.35500	-0.9786	10	0.30854	T	0.27	-4.6573	5.5005	0.16827	0.3025:0.1486:0.5489:0.0	.	741;249;883	F5H165;B5MCP1;P19827	.;.;ITIH1_HUMAN	S	883;741;595;436;249	ENSP00000273283:A883S;ENSP00000443973:A741S;ENSP00000443847:A595S;ENSP00000395836:A436S;ENSP00000384589:A249S	ENSP00000273283:A883S	A	+	1	0	ITIH1	52800878	0.000000	0.05858	0.696000	0.30242	0.335000	0.28730	-0.317000	0.08060	0.673000	0.31224	0.591000	0.81541	GCC		0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		7	19	1	0	0.00448238	0.004482	0.00464673	7	19				
PRKCD	5580	broad.mit.edu	37	3	53218942	53218942	+	Silent	SNP	C	C	T	rs145324216		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:53218942C>T	ENST00000394729.2	+	9	1168	c.840C>T	c.(838-840)tgC>tgT	p.C280C	PRKCD_ENST00000330452.3_Silent_p.C280C	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	280					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CCAACCTCTGCGGCATCAACC	0.612																																							uc003dgl.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(838-840)TGC>TGT		protein kinase C, delta		C	,	0,4406		0,0,2203	83.0	79.0	81.0		840,840	-4.0	1.0	3	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	PRKCD	NM_006254.3,NM_212539.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	280/677,280/677	53218942	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53218942C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.840C>T	3.37:g.53218942C>T						PRKCD_uc003dgm.2_Silent_p.C280C|PRKCD_uc010hmt.1_Silent_p.C52C	p.C280C	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	10	1193	+		Ovarian(412;0.0728)	280			Phorbol-ester/DAG-type 2.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.840C>T	CCDS2870.1																																																																																				0.612	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			16	67	0	0	0	0.003163	0	16	67				
CACNA2D3	55799	broad.mit.edu	37	3	54798282	54798282	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:54798282G>A	ENST00000474759.1	+	13	1332	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	CACNA2D3_ENST00000490478.1_Silent_p.Q334Q|CACNA2D3_ENST00000288197.5_Silent_p.Q428Q|CACNA2D3_ENST00000415676.2_Silent_p.Q428Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	428	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTGATGTGCAGGAGAATGTCA	0.483																																							uc003dhf.2		NA																	0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1282-1284)CAG>CAA		calcium channel, voltage-dependent, alpha							168.0	158.0	161.0					3																	54798282		2027	4184	6211	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54798282G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1284G>A	3.37:g.54798282G>A						CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.Q334Q|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.Q162Q	p.Q428Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	13	1332	+			428			Extracellular (Potential).|VWFA.		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.1284G>A	CCDS54598.1																																																																																				0.483	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			26	101	0	0	0	0.008361	0	26	101				
ADAMTS9	56999	broad.mit.edu	37	3	64582668	64582668	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:64582668C>T	ENST00000498707.1	-	27	4360		c.e27-1		ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TACTGGAACACTAAACACATC	0.463																																							uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.e27-1		ADAM metallopeptidase with thrombospondin type 1							92.0	89.0	90.0					3																	64582668		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64582668C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4018-1G>A	3.37:g.64582668C>T						ADAMTS9_uc011bfo.1_Splice_Site_p.C1312_splice|ADAMTS9_uc003dmh.1_Splice_Site_p.C1169_splice|ADAMTS9_uc011bfp.1_Splice_Site_p.C251_splice	p.C1340_splice	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	27	4050	-		Lung NSC(201;0.00682)						A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37	c.4018_splice	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678504	0.88542	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000481060	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3682	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS9	64557708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.273000	0.78527	2.818000	0.97014	0.591000	0.81541	.		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Intron	14	52	0	0	0	0.004007	0	14	52				
PDZRN3	23024	broad.mit.edu	37	3	73433717	73433717	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:73433717G>A	ENST00000263666.4	-	10	2114	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324L|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	667					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGGCCGCTAGGGTAGTACAG	0.652																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1999-2001)CCT>CTT		PDZ domain containing ring finger 3							39.0	41.0	40.0					3																	73433717		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433717G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2000C>T	3.37:g.73433717G>A	ENSP00000263666:p.Pro667Leu					PDZRN3_uc011bgh.1_Missense_Mutation_p.P324L|PDZRN3_uc010hoe.1_Missense_Mutation_p.P365L|PDZRN3_uc011bgf.1_Missense_Mutation_p.P384L|PDZRN3_uc011bgg.1_Missense_Mutation_p.P387L	p.P667L	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2096	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	667					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2000C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	1.274	-0.612219	0.03690	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.08896	3.04;3.73;3.62;3.62;3.74;3.74	4.91	3.94	0.45596	.	1.830340	0.02621	N	0.103207	T	0.10680	0.0261	L	0.38175	1.15	0.21416	N	0.999697	B;B;B;B	0.21905	0.017;0.025;0.019;0.062	B;B;B;B	0.22386	0.026;0.024;0.028;0.039	T	0.26573	-1.0099	10	0.28530	T	0.3	.	11.9521	0.52961	0.0:0.0:0.7006:0.2994	.	389;384;384;667	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	L	667;389;324;324;384;365	ENSP00000263666:P667L;ENSP00000442026:P389L;ENSP00000418168:P324L;ENSP00000418484:P324L;ENSP00000418624:P384L;ENSP00000419250:P365L	ENSP00000263666:P667L	P	-	2	0	PDZRN3	73516407	0.725000	0.28048	0.267000	0.24556	0.019000	0.09904	1.432000	0.34936	2.264000	0.75181	0.655000	0.94253	CCT		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		18	63	0	0	0	0.007413	0	18	63				
ROBO2	6092	broad.mit.edu	37	3	77623817	77623817	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:77623817G>T	ENST00000461745.1	+	14	3039	c.2139G>T	c.(2137-2139)cgG>cgT	p.R713R	ROBO2_ENST00000487694.3_Silent_p.R729R|ROBO2_ENST00000332191.8_Silent_p.R713R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTAAAGTACGGCCATATTTTA	0.388																																							uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2137-2139)CGG>CGT		roundabout, axon guidance receptor, homolog 2							55.0	51.0	52.0					3																	77623817		1846	4100	5946	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77623817G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2139G>T	3.37:g.77623817G>T						ROBO2_uc003dpz.2_Silent_p.R717R|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.R717R	p.R713R	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	14	2782	+			713			Fibronectin type-III 2.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.2139G>T	CCDS43109.1																																																																																				0.388	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	58	1	0	0.00909568	0.009096	0.00938228	4	58				
CADM2	253559	broad.mit.edu	37	3	86114764	86114764	+	Missense_Mutation	SNP	C	C	T	rs370545332		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:86114764C>T	ENST00000407528.2	+	9	1135	c.1073C>T	c.(1072-1074)gCt>gTt	p.A358V	CADM2_ENST00000383699.3_Missense_Mutation_p.A327V|CADM2_ENST00000405615.2_Missense_Mutation_p.A360V	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	358					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATCCTAATGCTTTGGCTGGC	0.368																																							uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1072-1074)GCT>GTT		immunoglobulin superfamily, member 4D		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	158.0	141.0	147.0		1073,980,1079	5.8	1.0	3		147	0,8600		0,0,4300	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	358/436,327/405,360/438	86114764	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114764C>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1073C>T	3.37:g.86114764C>T	ENSP00000384575:p.Ala358Val					CADM2_uc003dqk.2_Missense_Mutation_p.A327V|CADM2_uc003dql.2_Missense_Mutation_p.A360V	p.A358V	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	9	1699	+		Lung NSC(201;0.0148)	358			Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1073C>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148393	0.78001	2.27E-4	0.0	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.64991	0.03;-0.13;-0.12	5.76	5.76	0.90799	.	0.156761	0.56097	D	0.000026	T	0.56352	0.1979	N	0.14661	0.345	0.54753	D	0.999982	P;P;P	0.42692	0.597;0.787;0.682	P;B;B	0.49853	0.624;0.367;0.244	T	0.55003	-0.8208	10	0.31617	T	0.26	.	16.2349	0.82365	0.0:0.8673:0.1327:0.0	.	360;327;358	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	V	327;358;360	ENSP00000373200:A327V;ENSP00000384575:A358V;ENSP00000384193:A360V	ENSP00000373200:A327V	A	+	2	0	CADM2	86197454	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.035000	0.70940	2.721000	0.93114	0.650000	0.86243	GCT		0.368	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		4	42	0	0	0	0.001168	0	4	42				
CD47	961	broad.mit.edu	37	3	107778323	107778323	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:107778323G>T	ENST00000361309.5	-	5	772	c.667C>A	c.(667-669)Ctt>Att	p.L223I	CD47_ENST00000355354.7_Missense_Mutation_p.L223I	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	223					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TAGTAGTGAAGTAATATTAAT	0.289																																							uc003dwt.1		NA																	0				ovary(1)	1						c.(667-669)CTT>ATT		CD47 antigen isoform 1 precursor							81.0	77.0	79.0					3																	107778323		1802	4054	5856	SO:0001583	missense	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107778323G>T		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.667C>A	3.37:g.107778323G>T	ENSP00000355361:p.Leu223Ile					CD47_uc003dwu.1_Missense_Mutation_p.L223I|CD47_uc003dwv.1_Missense_Mutation_p.L223I|CD47_uc003dww.1_Missense_Mutation_p.L223I	p.L223I	NM_001777	NP_001768	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		5	847	-			223			Helical; (Potential).		A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	c.667C>A	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.797206|2.797206	0.50208|0.50208	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000355354;ENST00000361309|ENST00000517766	.|.	.|.	.|.	5.81|5.81	3.98|3.98	0.46160|0.46160	CD47 transmembrane (1);|.	0.000000|.	0.52532|.	D|.	0.000066|.	T|.	0.53417|.	0.1795|.	M|M	0.72118|0.72118	2.19|2.19	0.29122|0.29122	N|N	0.880183|0.880183	D;D;D;D|.	0.71674|.	0.997;0.997;0.998;0.998|.	D;D;D;D|.	0.69824|.	0.942;0.942;0.966;0.953|.	T|.	0.52563|.	-0.8559|.	9|.	0.62326|.	D|.	0.03|.	.|.	7.2391|7.2391	0.26086|0.26086	0.0889:0.1725:0.7386:0.0|0.0889:0.1725:0.7386:0.0	.|.	223;223;223;223|.	Q08722-2;Q08722-3;E9PB22;Q08722|.	.;.;.;CD47_HUMAN|.	I|X	223|19	.|.	ENSP00000347512:L223I|.	L|Y	-|-	1|3	0|2	CD47|CD47	109261013|109261013	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.566000|0.566000	0.35808|0.35808	2.987000|2.987000	0.49378|0.49378	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	CTT|TAC		0.289	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777		5	56	1	0	2.0095e-06	0.001984	2.23198e-06	5	56				
DZIP3	9666	broad.mit.edu	37	3	108363619	108363619	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:108363619T>C	ENST00000361582.3	+	14	1980	c.1750T>C	c.(1750-1752)Tat>Cat	p.Y584H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Y584H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	584					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTATCCTGCTATCAACAAGG	0.413																																							uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1750-1752)TAT>CAT		DAZ interacting protein 3, zinc finger							64.0	61.0	62.0					3																	108363619		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363619T>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1750T>C	3.37:g.108363619T>C	ENSP00000355028:p.Tyr584His					DZIP3_uc003dxf.1_Missense_Mutation_p.Y584H|DZIP3_uc011bhm.1_Missense_Mutation_p.Y35H|DZIP3_uc003dxe.1_Missense_Mutation_p.Y584H|DZIP3_uc003dxg.1_Missense_Mutation_p.Y307H	p.Y584H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			14	2172	+			584					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1750T>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.014058	0.54468	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.26067	1.76;1.76	4.11	4.11	0.48088	.	0.327867	0.22866	N	0.054694	T	0.39600	0.1084	L	0.44542	1.39	0.32916	D	0.515151	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.987;0.996;0.987	T	0.49716	-0.8910	10	0.54805	T	0.06	-14.2297	9.7888	0.40692	0.0:0.0:0.0:1.0	.	202;584;584	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	H	584	ENSP00000355028:Y584H;ENSP00000419981:Y584H	ENSP00000355028:Y584H	Y	+	1	0	DZIP3	109846309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.090000	0.50191	2.080000	0.62538	0.482000	0.46254	TAT		0.413	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		4	62	0	0	0	0.009096	0	4	62				
MORC1	27136	broad.mit.edu	37	3	108813783	108813783	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:108813783G>T	ENST00000483760.1	-	7	599	c.556C>A	c.(556-558)Cag>Aag	p.Q186K	MORC1_ENST00000232603.5_Missense_Mutation_p.Q186K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATCAAACTGCTGCATCAAT	0.333																																							uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(556-558)CAG>AAG		MORC family CW-type zinc finger 1							45.0	47.0	46.0					3																	108813783		2203	4296	6499	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108813783G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.556C>A	3.37:g.108813783G>T	ENSP00000417282:p.Gln186Lys					MORC1_uc011bhn.1_Missense_Mutation_p.Q186K	p.Q186K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			7	643	-			186						Missense_Mutation	SNP	ENST00000483760.1	37	c.556C>A		.	.	.	.	.	.	.	.	.	.	G	19.09	3.759992	0.69763	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08282	3.11;3.12	5.35	5.35	0.76521	ATPase-like, ATP-binding domain (1);	0.000000	0.47093	D	0.000257	T	0.33556	0.0867	M	0.86097	2.795	0.47276	D	0.999375	D;B	0.69078	0.997;0.427	D;B	0.77004	0.989;0.417	T	0.04255	-1.0965	10	0.54805	T	0.06	-14.4707	16.611	0.84883	0.0:0.0:1.0:0.0	.	186;186	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	186	ENSP00000232603:Q186K;ENSP00000417282:Q186K	ENSP00000232603:Q186K	Q	-	1	0	MORC1	110296473	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	7.883000	0.87264	2.759000	0.94783	0.650000	0.86243	CAG		0.333	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			5	21	1	0	1.024e-07	0.000602	1.17623e-07	5	21				
CD200	4345	broad.mit.edu	37	3	112066479	112066479	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:112066479C>A	ENST00000315711.8	+	4	553	c.496C>A	c.(496-498)Cca>Aca	p.P166T	CD200_ENST00000383681.3_Missense_Mutation_p.P92T|CD200_ENST00000473539.1_Missense_Mutation_p.P191T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	166	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CACTGCCCGCCCAGCCCCCAT	0.483																																							uc003dyw.2		NA																	0					0						c.(571-573)CCA>ACA		CD200 antigen isoform b							116.0	117.0	116.0					3																	112066479		2203	4300	6503	SO:0001583	missense	4345				regulation of immune response	integral to plasma membrane		g.chr3:112066479C>A		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.496C>A	3.37:g.112066479C>A	ENSP00000312766:p.Pro166Thr					CD200_uc010hqd.1_Missense_Mutation_p.P50T|CD200_uc003dyx.2_Missense_Mutation_p.P166T|CD200_uc003dyy.2_Missense_Mutation_p.P50T|CD200_uc003dyz.2_Missense_Mutation_p.P92T	p.P191T	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			5	715	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	166			Ig-like C2-type.|Extracellular (Potential).		B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	c.571C>A	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077484	0.76528	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.15834	2.39;2.39;2.39	5.56	5.56	0.83823	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.31918	0.0812	L	0.34521	1.04	0.46185	D	0.99891	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	T	0.02226	-1.1192	10	0.87932	D	0	-14.1545	15.0303	0.71701	0.0:1.0:0.0:0.0	.	166;92;92;166;191	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	T	166;191;92	ENSP00000312766:P166T;ENSP00000420298:P191T;ENSP00000373179:P92T	ENSP00000312766:P166T	P	+	1	0	CD200	113549169	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.132000	0.57977	2.592000	0.87571	0.655000	0.94253	CCA		0.483	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			40	96	1	0	2.32173e-10	0.004878	2.77982e-10	40	96				
CCDC80	151887	broad.mit.edu	37	3	112324355	112324355	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:112324355T>C	ENST00000206423.3	-	8	3715	c.2762A>G	c.(2761-2763)tAt>tGt	p.Y921C	CCDC80_ENST00000439685.2_Missense_Mutation_p.Y921C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	921					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGGTAACCATAGCCTGCATA	0.458																																							uc003dzf.2		NA																	0				ovary(2)	2						c.(2761-2763)TAT>TGT		steroid-sensitive protein 1 precursor							113.0	97.0	103.0					3																	112324355		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112324355T>C	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2762A>G	3.37:g.112324355T>C	ENSP00000206423:p.Tyr921Cys					CCDC80_uc011bhv.1_Missense_Mutation_p.Y894C|CCDC80_uc003dzg.2_Missense_Mutation_p.Y921C	p.Y921C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			8	2980	-			921					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2762A>G	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327267	0.60743	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.55588	0.51;0.51;0.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66260	-0.5968	10	0.87932	D	0	-13.037	16.1894	0.81975	0.0:0.0:0.0:1.0	.	932;921	Q76M96-2;Q76M96	.;CCD80_HUMAN	C	921;921;522;199	ENSP00000206423:Y921C;ENSP00000411814:Y921C;ENSP00000418188:Y199C	ENSP00000206423:Y921C	Y	-	2	0	CCDC80	113807045	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.996000	0.88334	2.222000	0.72286	0.477000	0.44152	TAT		0.458	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		12	63	0	0	0	0.001368	0	12	63				
C3orf30	152405	broad.mit.edu	37	3	118865972	118865972	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:118865972C>A	ENST00000295622.1	+	1	976	c.936C>A	c.(934-936)ggC>ggA	p.G312G	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	312			G -> S (in dbSNP:rs4077930).							NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGTGTACGGCCAAGCCACTG	0.493																																							uc003ecb.1		NA																	0				ovary(2)	2						c.(934-936)GGC>GGA		hypothetical protein LOC152405							85.0	74.0	78.0					3																	118865972		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865972C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.936C>A	3.37:g.118865972C>A						IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.G312G	p.G312G	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	976	+			312					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.936C>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	C	2.686	-0.274258	0.05679	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	.	.	.	2.72	-1.62	0.08372	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-0.8248	0.3656	0.00371	0.1957:0.3109:0.2196:0.2739	.	.	.	.	T	276;105;47	.	.	P	+	1	0	C3orf30	120348662	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.324000	0.07986	-0.401000	0.07644	0.467000	0.42956	CCA		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		6	46	1	0	2.7689e-08	0.001984	3.20121e-08	6	46				
ITGB5	3693	broad.mit.edu	37	3	124482530	124482530	+	Silent	SNP	C	C	T	rs150931917		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:124482530C>T	ENST00000296181.4	-	15	2636	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	780					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCACAGTGTGCGTGGAGATAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		23924	0.001		0.0	False		,,,				2504	0.0						uc003eho.2		NA																	0				skin(2)	2						c.(2338-2340)ACG>ACA		integrin, beta 5 precursor							185.0	149.0	161.0					3																	124482530		2203	4300	6503	SO:0001819	synonymous_variant	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124482530C>T	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2340G>A	3.37:g.124482530C>T						ITGB5_uc010hrx.2_RNA	p.T780T	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	15	2637	-			780			Cytoplasmic (Potential).		B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	c.2340G>A	CCDS3030.1																																																																																				0.498	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		18	34	0	0	0	0.007413	0	18	34				
PLXNA1	5361	broad.mit.edu	37	3	126751317	126751317	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:126751317G>T	ENST00000393409.2	+	29	5319	c.5319G>T	c.(5317-5319)ttG>ttT	p.L1773F	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1750F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1773					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACGCCTGCTTGTCGGTGGTGG	0.582																																							uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5248-5250)TTG>TTT		plexin A1							138.0	125.0	130.0					3																	126751317		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751317G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5319G>T	3.37:g.126751317G>T	ENSP00000377061:p.Leu1773Phe					PLXNA1_uc003ejh.2_Missense_Mutation_p.L418F	p.L1750F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	29	5254	+			1773			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.5250G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924593	0.52653	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.55413	0.52;0.52	4.12	0.0223	0.14133	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000025	T	0.68384	0.2995	M	0.89658	3.05	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.63580	-0.6605	10	0.72032	D	0.01	.	1.3119	0.02100	0.3216:0.3251:0.2234:0.1299	.	387;1773	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	F	1773;1750	ENSP00000377061:L1773F;ENSP00000251772:L1750F	ENSP00000251772:L1750F	L	+	3	2	PLXNA1	128234007	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	1.162000	0.31786	-0.099000	0.12263	-0.373000	0.07131	TTG		0.582	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	96	1	0	0.00116845	0.001168	0.00122973	5	96				
ACAD9	28976	broad.mit.edu	37	3	128623263	128623263	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:128623263T>C	ENST00000308982.7	+	11	1145	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	355						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGGCTTACGTCATGGAGAGT	0.498																																							uc003ela.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1063-1065)GTC>GCC		acyl-Coenzyme A dehydrogenase family, member 9							96.0	86.0	89.0					3																	128623263		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128623263T>C	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1064T>C	3.37:g.128623263T>C	ENSP00000312618:p.Val355Ala					ACAD9_uc010hsw.1_Missense_Mutation_p.V232A|ACAD9_uc011bks.1_Missense_Mutation_p.V232A|ACAD9_uc003elb.2_Missense_Mutation_p.V232A|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.V7A	p.V355A	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			11	1266	+			355					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1064T>C	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421352	0.25639	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.94537	-3.45	5.7	4.55	0.56014	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.052493	0.85682	N	0.000000	T	0.74688	0.3749	N	0.00182	-1.905	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.005	T	0.73033	-0.4110	10	0.02654	T	1	.	10.0292	0.42090	0.0:0.0798:0.0:0.9202	.	232;355	Q9H9W4;Q9H845	.;ACAD9_HUMAN	A	355;222	ENSP00000312618:V355A	ENSP00000312618:V355A	V	+	2	0	ACAD9	130105953	1.000000	0.71417	0.184000	0.23157	0.751000	0.42716	5.586000	0.67503	0.986000	0.38683	-0.274000	0.10170	GTC		0.498	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		26	80	0	0	0	0.004656	0	26	80				
EFCAB12	90288	broad.mit.edu	37	3	129134220	129134220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:129134220C>A	ENST00000505956.1	-	4	868	c.706G>T	c.(706-708)Gag>Tag	p.E236*	EFCAB12_ENST00000326085.3_Nonsense_Mutation_p.E236*	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	236							calcium ion binding (GO:0005509)										TCCTCCACCTCTTGGTTCTTC	0.522																																							uc003emg.2		NA																	0					NA						c.(706-708)GAG>TAG		hypothetical protein LOC90288							129.0	127.0	128.0					3																	129134220		2013	4172	6185	SO:0001587	stop_gained	0							g.chr3:129134220C>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.706G>T	3.37:g.129134220C>A	ENSP00000420854:p.Glu236*						p.E236*	NM_207307	NP_997190					4	869	-								Q69YX4	Nonsense_Mutation	SNP	ENST00000505956.1	37	c.706G>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477510	0.84640	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	.	.	.	4.86	3.98	0.46160	.	0.212591	0.32918	N	0.005482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-28.2687	9.0355	0.36284	0.0:0.9001:0.0:0.0999	.	.	.	.	X	236;236;86	.	ENSP00000324241:E236X	E	-	1	0	C3orf25	130616910	0.525000	0.26290	0.228000	0.23943	0.755000	0.42902	1.978000	0.40598	1.261000	0.44149	0.555000	0.69702	GAG		0.522	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		6	19	1	0	5.9392e-07	0.001168	6.67422e-07	6	19				
PLXND1	23129	broad.mit.edu	37	3	129291755	129291755	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:129291755C>T	ENST00000324093.4	-	14	3045	c.2867G>A	c.(2866-2868)gGa>gAa	p.G956E	PLXND1_ENST00000393239.1_Missense_Mutation_p.G956E	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	956	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGAGAGTGGTCCTGGGGCTGG	0.667																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(2866-2868)GGA>GAA		plexin D1 precursor							61.0	50.0	54.0					3																	129291755		2202	4300	6502	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129291755C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2867G>A	3.37:g.129291755C>T	ENSP00000317128:p.Gly956Glu						p.G956E	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			14	2967	-			956			IPT/TIG 1.|Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2867G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.260915	0.01445	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.80214	-1.35;-1.35	5.1	0.102	0.14522	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.121470	0.06481	N	0.732898	T	0.59945	0.2231	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40270	-0.9572	10	0.23302	T	0.38	.	5.1949	0.15232	0.0:0.3546:0.2551:0.3904	.	956	Q9Y4D7	PLXD1_HUMAN	E	956	ENSP00000317128:G956E;ENSP00000376931:G956E	ENSP00000317128:G956E	G	-	2	0	PLXND1	130774445	0.000000	0.05858	0.025000	0.17156	0.541000	0.35023	-0.698000	0.05092	-0.309000	0.08779	0.655000	0.94253	GGA		0.667	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		4	29	0	0	0	0.000602	0	4	29				
PIK3R4	30849	broad.mit.edu	37	3	130409378	130409378	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:130409378A>G	ENST00000356763.3	-	14	3776	c.3219T>C	c.(3217-3219)gcT>gcC	p.A1073A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1073					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCAGCTTAGAAGCCTCAATTC	0.423																																							uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(3217-3219)GCT>GCC		phosphoinositide-3-kinase, regulatory subunit 4							133.0	126.0	128.0					3																	130409378		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130409378A>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3219T>C	3.37:g.130409378A>G							p.A1073A	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			14	3800	-			1073			WD 2.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.3219T>C	CCDS3067.1																																																																																				0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		8	79	0	0	0	0.00308	0	8	79				
TOPBP1	11073	broad.mit.edu	37	3	133363056	133363056	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:133363056T>C	ENST00000260810.5	-	11	1787	c.1656A>G	c.(1654-1656)ttA>ttG	p.L552L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	552	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGGCTAAATAAGCCTTCTT	0.358								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1654-1656)TTA>TTG	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							66.0	62.0	63.0					3																	133363056		1846	4083	5929	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133363056T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1656A>G	3.37:g.133363056T>C							p.L552L	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			11	1788	-			552			BRCT 4.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.1656A>G	CCDS46919.1																																																																																				0.358	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		12	20	0	0	0	0.000978	0	12	20				
PRR23A	729627	broad.mit.edu	37	3	138724634	138724634	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:138724634G>A	ENST00000383163.2	-	1	476	c.477C>T	c.(475-477)gaC>gaT	p.D159D	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	159										endometrium(3)|kidney(1)|lung(7)	11						CGGGGTCCGCGTCCTCCTCGT	0.642																																							uc011bms.1		NA																	0					0						c.(475-477)GAC>GAT		proline rich 23A							29.0	32.0	31.0					3																	138724634		692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724634G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.477C>T	3.37:g.138724634G>A							p.D159D	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	477	-			159						Silent	SNP	ENST00000383163.2	37	c.477C>T	CCDS46923.1																																																																																				0.642	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	19	0	0	0	0.009096	0	4	19				
ZIC4	84107	broad.mit.edu	37	3	147114079	147114079	+	Missense_Mutation	SNP	G	G	T	rs182356616	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:147114079G>T	ENST00000383075.3	-	3	760	c.248C>A	c.(247-249)gCg>gAg	p.A83E	ZIC4_ENST00000425731.3_Missense_Mutation_p.A121E|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A83E|ZIC4_ENST00000525172.2_Missense_Mutation_p.A133E|ZIC4_ENST00000484399.1_Missense_Mutation_p.A83E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	83						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCGGGCCGCAGGCCCTGG	0.716																																							uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(247-249)GCG>GAG		zinc finger protein of the cerebellum 4							10.0	13.0	12.0					3																	147114079		1914	4081	5995	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114079G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.248C>A	3.37:g.147114079G>T	ENSP00000372553:p.Ala83Glu					ZIC4_uc003ewc.1_Missense_Mutation_p.A13E|ZIC4_uc011bno.1_Missense_Mutation_p.A133E	p.A83E	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	521	-			83					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.248C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541960	0.45280	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.01	1.76	0.24704	.	0.798663	0.10518	N	0.665354	T	0.23054	0.0557	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.33748	0.423;0.098	B;B	0.36030	0.216;0.078	T	0.08973	-1.0696	10	0.62326	D	0.03	.	4.1992	0.10458	0.4514:0.1727:0.3759:0.0	.	133;83	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	83;121;133;83;83;83	ENSP00000372553:A83E;ENSP00000397695:A121E;ENSP00000435509:A133E;ENSP00000417855:A83E;ENSP00000420775:A83E;ENSP00000420627:A83E	ENSP00000372553:A83E	A	-	2	0	ZIC4	148596769	0.967000	0.33354	0.425000	0.26659	0.958000	0.62258	2.129000	0.42055	0.377000	0.24735	0.561000	0.74099	GCG		0.716	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			7	13	1	0	8.12818e-05	0.001984	8.69429e-05	7	13				
SIAH2	6478	broad.mit.edu	37	3	150460419	150460419	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150460419C>G	ENST00000312960.3	-	2	1011	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	162	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGACGGTATTCACATATGTCT	0.542																																							uc003eyi.2		NA																	0				ovary(1)|lung(1)	2						c.(484-486)GAA>CAA		seven in absentia homolog 2							116.0	99.0	105.0					3																	150460419		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460419C>G	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.484G>C	3.37:g.150460419C>G	ENSP00000322457:p.Glu162Gln						p.E162Q	NM_005067	NP_005058	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1111	-			162			SIAH-type.|SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.484G>C	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974795	0.74360	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26373	1.74;1.74	5.23	5.23	0.72850	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.77103	2.36	0.80722	D	1	B	0.26081	0.141	B	0.25759	0.063	T	0.14727	-1.0462	10	0.30078	T	0.28	.	18.798	0.92003	0.0:1.0:0.0:0.0	.	162	O43255	SIAH2_HUMAN	Q	162;36	ENSP00000322457:E162Q;ENSP00000417619:E36Q	ENSP00000322457:E162Q	E	-	1	0	SIAH2	151943109	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.078000	0.71282	2.423000	0.82170	0.313000	0.20887	GAA		0.542	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		20	53	0	0	0	0.010504	0	20	53				
CLRN1	7401	broad.mit.edu	37	3	150659515	150659515	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150659515C>T	ENST00000327047.1	-	2	577	c.287G>A	c.(286-288)aGc>aAc	p.S96N	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.S20N|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.S96N|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.A6T	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	96					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACGTGGATGCTCACTGGGAT	0.383																																							uc003eyk.1		NA																	0					0						c.(286-288)AGC>AAC		clarin 1 isoform a							116.0	104.0	108.0					3																	150659515		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659515C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.287G>A	3.37:g.150659515C>T	ENSP00000322280:p.Ser96Asn					CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.S20N|CLRN1_uc010hvj.1_RNA	p.S96N	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	578	-			96					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.287G>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506687	0.85282	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.15	5.15	0.70609	.	0.088537	0.85682	D	0.000000	D	0.86264	0.5891	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.63880	0.959;0.993	P;D	0.63033	0.629;0.91	D	0.86450	0.1772	10	0.51188	T	0.08	-7.5481	18.9911	0.92793	0.0:1.0:0.0:0.0	.	96;20	P58418;P58418-1	CLRN1_HUMAN;.	N	20;96;96;20	ENSP00000295911:S20N;ENSP00000322280:S96N;ENSP00000329158:S96N;ENSP00000419892:S20N	ENSP00000295911:S20N	S	-	2	0	CLRN1	152142205	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.573000	0.74009	2.549000	0.85964	0.655000	0.94253	AGC		0.383	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			9	23	0	0	0	0.004482	0	9	23				
CLRN1	7401	broad.mit.edu	37	3	150659548	150659548	+	Splice_Site	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150659548A>C	ENST00000327047.1	-	2	544	c.254T>G	c.(253-255)tTt>tGt	p.F85C	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Splice_Site_p.V9G|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Splice_Site_p.F85C|RP11-166N6.3_ENST00000569170.1_5'Flank	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	85					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTGGAAAAACTGAAGATAA	0.368																																							uc003eyk.1		NA																	0					0						c.(253-255)TTT>TGT		clarin 1 isoform a							87.0	80.0	83.0					3																	150659548		2203	4300	6503	SO:0001630	splice_region_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659548A>C	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.254-1T>G	3.37:g.150659548A>C						CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.V9G|CLRN1_uc010hvj.1_RNA	p.F85C	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	545	-			85					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.254T>G	CCDS3153.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.01|18.01	3.527519|3.527519	0.64860|0.64860	.|.	.|.	ENSG00000163646|ENSG00000163646	ENST00000327047;ENST00000328863|ENST00000295911;ENST00000468836	T;T|T;T	0.76709|0.80909	-1.04;-1.04|-1.43;-1.43	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.416261|.	0.27778|.	N|.	0.017900|.	T|T	0.78874|0.78874	0.4352|0.4352	L|L	0.51422|0.51422	1.61|1.61	0.54753|0.54753	D|D	0.999984|0.999984	P|B	0.49783|0.25105	0.928|0.118	P|B	0.49999|0.31245	0.628|0.126	T|T	0.78257|0.78257	-0.2274|-0.2274	10|9	0.87932|0.87932	D|D	0|0	.|.	15.2716|15.2716	0.73705|0.73705	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	85|9	P58418|P58418-1	CLRN1_HUMAN|.	C|G	85|9	ENSP00000322280:F85C;ENSP00000329158:F85C|ENSP00000295911:V9G;ENSP00000419892:V9G	ENSP00000322280:F85C|ENSP00000295911:V9G	F|V	-|-	2|2	0|0	CLRN1|CLRN1	152142238|152142238	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.653000|0.653000	0.38743|0.38743	7.813000|7.813000	0.86123|0.86123	2.061000|2.061000	0.61500|0.61500	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.368	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1		Missense_Mutation	7	28	0	0	0	0.001984	0	7	28				
MME	4311	broad.mit.edu	37	3	154832920	154832920	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:154832920G>T	ENST00000460393.1	+	4	454	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	MME_ENST00000462745.1_Missense_Mutation_p.D112Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.D112Y|MME_ENST00000493237.1_Missense_Mutation_p.D112Y|MME_ENST00000492661.1_Missense_Mutation_p.D112Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	112					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATTTTAAGAGATGAACTAGA	0.378																																							uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(334-336)GAT>TAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						103.0	100.0	101.0					3																	154832920		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832920G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.334G>T	3.37:g.154832920G>T	ENSP00000418525:p.Asp112Tyr					MME_uc003fab.1_Missense_Mutation_p.D112Y|MME_uc003fac.1_Missense_Mutation_p.D112Y|MME_uc003fad.1_Missense_Mutation_p.D112Y|MME_uc003fae.1_Missense_Mutation_p.D112Y	p.D112Y	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	545	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	112			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.334G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497489	0.85069	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000462837	T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.6	5.6	0.85130	Peptidase M13 (1);	0.108919	0.64402	D	0.000007	D	0.85894	0.5803	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87256	0.2276	10	0.87932	D	0	-35.66	12.8841	0.58034	0.074:0.0:0.926:0.0	.	112	P08473	NEP_HUMAN	Y	112	ENSP00000420389:D112Y;ENSP00000418525:D112Y;ENSP00000420101:D112Y;ENSP00000419653:D112Y;ENSP00000417079:D112Y;ENSP00000353679:D112Y;ENSP00000418791:D112Y;ENSP00000417595:D112Y	ENSP00000353679:D112Y	D	+	1	0	MME	156315614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.929000	0.87595	2.648000	0.89879	0.655000	0.94253	GAT		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		19	59	1	0	1.00905e-13	0.008871	1.25275e-13	19	59				
GOLIM4	27333	broad.mit.edu	37	3	167750317	167750317	+	Silent	SNP	C	C	T	rs137967362		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:167750317C>T	ENST00000470487.1	-	9	1856	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	GOLIM4_ENST00000309027.4_Silent_p.A361A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	389	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCAGCACGCGCGTGCCCTT	0.483																																							uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1165-1167)GCG>GCA		golgi integral membrane protein 4							230.0	193.0	206.0					3																	167750317		2203	4300	6503	SO:0001819	synonymous_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750317C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1167G>A	3.37:g.167750317C>T						GOLIM4_uc011bpe.1_Silent_p.A389A|GOLIM4_uc011bpf.1_Silent_p.A361A|GOLIM4_uc011bpg.1_Silent_p.A361A	p.A389A	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1511	-			389			Glu-rich.|Lumenal (Potential).			Silent	SNP	ENST00000470487.1	37	c.1167G>A	CCDS3204.1																																																																																				0.483	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			41	162	0	0	0	0.00361	0	41	162				
MYNN	55892	broad.mit.edu	37	3	169500335	169500335	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:169500335C>T	ENST00000349841.5	+	5	1966	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	MYNN_ENST00000356716.4_Missense_Mutation_p.R435C|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.R435C|MYNN_ENST00000544106.1_Missense_Mutation_p.R435C	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	435					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTATCATGTCCGTAGGCATAC	0.423																																							uc003fft.2		NA																	0				skin(1)	1						c.(1303-1305)CGT>TGT		myoneurin							211.0	181.0	191.0					3																	169500335		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169500335C>T	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1303C>T	3.37:g.169500335C>T	ENSP00000326240:p.Arg435Cys					MYNN_uc011bpm.1_Missense_Mutation_p.R321C|MYNN_uc003ffu.2_Missense_Mutation_p.R435C|MYNN_uc003ffv.2_Missense_Mutation_p.R162C|MYNN_uc010hwo.2_Missense_Mutation_p.R435C|MYNN_uc003ffw.1_RNA	p.R435C	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		5	1732	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		435			C2H2-type 5.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.1303C>T	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084104	0.76642	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.747;0.999	T	0.68804	-0.5312	10	0.87932	D	0	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	435;435	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	C	435	ENSP00000349150:R435C;ENSP00000326240:R435C;ENSP00000376492:R435C;ENSP00000440637:R435C	ENSP00000326240:R435C	R	+	1	0	MYNN	170983029	1.000000	0.71417	0.993000	0.49108	0.275000	0.26752	5.892000	0.69790	2.733000	0.93635	0.655000	0.94253	CGT		0.423	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		33	109	0	0	0	0.004289	0	33	109				
LRRC31	79782	broad.mit.edu	37	3	169569568	169569568	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:169569568A>G	ENST00000316428.5	-	7	1055	c.998T>C	c.(997-999)gTc>gCc	p.V333A	LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000523069.1_Missense_Mutation_p.V333A|LRRC31_ENST00000264676.5_Missense_Mutation_p.V277A	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	333										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TAAAGGAATGACCTGGGCTGT	0.403																																							uc003fgc.1		NA																	0				ovary(2)|skin(1)	3						c.(997-999)GTC>GCC		leucine rich repeat containing 31							101.0	96.0	98.0					3																	169569568		1862	4088	5950	SO:0001583	missense	79782							g.chr3:169569568A>G	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.998T>C	3.37:g.169569568A>G	ENSP00000325978:p.Val333Ala					LRRC31_uc010hwp.1_Missense_Mutation_p.V277A	p.V333A	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		7	1075	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		333					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.998T>C	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194173	0.38707	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.46819	0.86;0.86;0.86	4.76	3.61	0.41365	.	0.199168	0.42821	D	0.000643	T	0.49490	0.1560	L	0.49350	1.555	0.22754	N	0.998777	D;P	0.56968	0.978;0.836	P;B	0.56343	0.796;0.245	T	0.39313	-0.9620	10	0.09084	T	0.74	-9.8471	10.0084	0.41970	0.9198:0.0:0.0802:0.0	.	277;333	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	A	333;277;333	ENSP00000325978:V333A;ENSP00000264676:V277A;ENSP00000429145:V333A	ENSP00000264676:V277A	V	-	2	0	LRRC31	171052262	0.983000	0.35010	0.361000	0.25849	0.742000	0.42306	5.946000	0.70234	0.689000	0.31550	0.260000	0.18958	GTC		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		16	82	0	0	0	0.004007	0	16	82				
GNB4	59345	broad.mit.edu	37	3	179138686	179138686	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:179138686C>T	ENST00000232564.3	-	3	373	c.87G>A	c.(85-87)acG>acA	p.T29T	GNB4_ENST00000468623.1_Silent_p.T29T	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	29					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTGAACAAGCGTTGCATCAT	0.303																																					Melanoma(105;1405 1491 7265 20440 33721)	Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3		NA																	0				skin(2)	2						c.(85-87)ACG>ACA		guanine nucleotide-binding protein, beta-4							73.0	71.0	72.0					3																	179138686		2203	4297	6500	SO:0001819	synonymous_variant	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179138686C>T	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.87G>A	3.37:g.179138686C>T							p.T29T	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		3	367	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		29					B3KMH5|D3DNR8	Silent	SNP	ENST00000232564.3	37	c.87G>A	CCDS3230.1																																																																																				0.303	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		10	50	0	0	0	0.008291	0	10	50				
TTC14	151613	broad.mit.edu	37	3	180328098	180328098	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:180328098G>A	ENST00000296015.4	+	12	2213	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	694							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGGATCACGTGATTTCAGT	0.408																																							uc003fkk.2		NA																	0				ovary(1)	1						c.(2080-2082)CGT>CAT		tetratricopeptide repeat domain 14 isoform a							76.0	79.0	78.0					3																	180328098		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180328098G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2081G>A	3.37:g.180328098G>A	ENSP00000296015:p.Arg694His					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.R694H	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2213	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		694					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2081G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722845	0.30503	.	.	ENSG00000163728	ENST00000296015	T	0.49720	0.77	6.04	2.63	0.31362	.	0.356178	0.31636	N	0.007303	T	0.19525	0.0469	N	0.11560	0.145	0.80722	D	1	B	0.31077	0.307	B	0.17722	0.019	T	0.04767	-1.0928	10	0.14656	T	0.56	-2.1557	5.4805	0.16721	0.4941:0.0:0.5059:0.0	.	694	Q96N46	TTC14_HUMAN	H	694	ENSP00000296015:R694H	ENSP00000296015:R694H	R	+	2	0	TTC14	181810792	0.025000	0.19082	1.000000	0.80357	0.981000	0.71138	0.315000	0.19451	0.769000	0.33313	0.563000	0.77884	CGT		0.408	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		8	84	0	0	0	0.006214	0	8	84				
FXR1	8087	broad.mit.edu	37	3	180693108	180693108	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:180693108T>C	ENST00000357559.4	+	16	1995	c.1611T>C	c.(1609-1611)gtT>gtC	p.V537V	FXR1_ENST00000480918.1_Silent_p.V524V|FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000305586.7_Silent_p.V452V|FXR1_ENST00000445140.2_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	537					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CAGTCACAGTTGCAGATTATA	0.318																																							uc003fkq.2		NA																	0				breast(1)	1						c.(1609-1611)GTT>GTC		fragile X mental retardation-related protein 1							28.0	29.0	29.0					3																	180693108		2175	4292	6467	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180693108T>C	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1611T>C	3.37:g.180693108T>C						FXR1_uc003fkp.2_Silent_p.V452V|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Silent_p.V480V|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Silent_p.V524V	p.V537V	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		16	1633	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		537					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.1611T>C	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.269066	0.05716	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.72	4.57	0.56435	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	-19.0329	3.2436	0.06789	0.1449:0.0761:0.1335:0.6454	.	.	.	.	S	165	.	.	L	+	2	0	FXR1	182175802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.347000	0.44036	2.179000	0.69175	0.496000	0.49642	TTG		0.318	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			4	22	0	0	0	0.009096	0	4	22				
ATP11B	23200	broad.mit.edu	37	3	182605387	182605387	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:182605387G>A	ENST00000323116.5	+	24	2989	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	910					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTATGACAGCGTGTACCTG	0.313																																							uc003flb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2728-2730)AGC>AAC		ATPase, class VI, type 11B							139.0	135.0	136.0					3																	182605387		2203	4299	6502	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182605387G>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2729G>A	3.37:g.182605387G>A	ENSP00000321195:p.Ser910Asn					ATP11B_uc003flc.2_Missense_Mutation_p.S494N|ATP11B_uc011bqm.1_Intron|ATP11B_uc010hxf.1_Missense_Mutation_p.S72N	p.S910N	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		24	2986	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		910			Extracellular (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2729G>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.964635|3.964635	0.74131|0.74131	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000482070	.|D;T	.|0.88818	.|-2.43;-0.52	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.039662	.|0.85682	.|D	.|0.000000	D|D	0.93350|0.93350	0.7880|0.7880	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	.|D;B	.|0.71674	.|0.998;0.161	.|D;B	.|0.77557	.|0.99;0.174	D|D	0.92788|0.92788	0.6246|0.6246	5|10	.|0.45353	.|T	.|0.12	.|.	19.0544|19.0544	0.93058|0.93058	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|484;910	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	T|N	711|910;125	.|ENSP00000321195:S910N;ENSP00000417124:S125N	.|ENSP00000321195:S910N	A|S	+|+	1|2	0|0	ATP11B|ATP11B	184088081|184088081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.577000|7.577000	0.82486|0.82486	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	GCG|AGC		0.313	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		14	86	0	0	0	0.003163	0	14	86				
MCF2L2	23101	broad.mit.edu	37	3	183036004	183036004	+	Splice_Site	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:183036004G>C	ENST00000328913.3	-	7	902	c.605C>G	c.(604-606)gCc>gGc	p.A202G	MCF2L2_ENST00000447025.2_Splice_Site_p.A202G|MCF2L2_ENST00000414362.2_Splice_Site_p.A202G|MCF2L2_ENST00000473233.1_Splice_Site_p.A202G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	202							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTTTTCGATGGCCTGGAAGGT	0.458																																							uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(604-606)GCC>GGC		Rho family guanine-nucleotide exchange factor							99.0	102.0	101.0					3																	183036004		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183036004G>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.604-1C>G	3.37:g.183036004G>C						MCF2L2_uc003flj.1_Missense_Mutation_p.A202G|MCF2L2_uc003flp.1_Missense_Mutation_p.A237G	p.A202G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		7	695	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		202					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.605C>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345105	0.82022	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.27	4.39	0.52855	.	0.058745	0.64402	N	0.000002	T	0.57021	0.2025	M	0.88105	2.93	0.49389	D	0.999781	D;D;B	0.71674	0.997;0.998;0.149	D;D;B	0.77557	0.979;0.99;0.065	T	0.66826	-0.5825	10	0.72032	D	0.01	.	14.7683	0.69657	0.0:0.1458:0.8542:0.0	.	202;202;202	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	G	202	ENSP00000328118:A202G;ENSP00000420070:A202G;ENSP00000388190:A202G;ENSP00000414131:A202G	ENSP00000328118:A202G	A	-	2	0	MCF2L2	184518698	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	8.834000	0.92094	1.180000	0.42898	0.655000	0.94253	GCC		0.458	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Missense_Mutation	33	49	0	0	0	0.003755	0	33	49				
RTP2	344892	broad.mit.edu	37	3	187419915	187419915	+	Start_Codon_SNP	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:187419915A>G	ENST00000358241.1	-	1	430	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	1					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTGGTACACATGGTCCTGCT	0.532																																							uc003fro.1		NA																	0					0						c.(1-3)ATG>ACG		receptor transporting protein 2							115.0	112.0	113.0					3																	187419915		2203	4300	6503	SO:0001582	initiator_codon_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419915A>G	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.2T>C	3.37:g.187419915A>G	ENSP00000350976:p.Met1Thr						p.M1T	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	431	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		1			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.2T>C	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194545	0.78902	.	.	ENSG00000198471	ENST00000358241	T	0.17528	2.27	4.61	4.61	0.57282	.	0.070483	0.56097	D	0.000021	T	0.31358	0.0794	.	.	.	0.80722	D	1	D	0.60575	0.988	P	0.55965	0.788	T	0.03933	-1.0991	9	0.87932	D	0	-24.1194	10.6843	0.45833	1.0:0.0:0.0:0.0	.	1	Q5QGT7	RTP2_HUMAN	T	1	ENSP00000350976:M1T	ENSP00000350976:M1T	M	-	2	0	RTP2	188902609	1.000000	0.71417	0.978000	0.43139	0.485000	0.33311	4.424000	0.59868	2.293000	0.77203	0.528000	0.53228	ATG		0.532	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312	Missense_Mutation	12	191	0	0	0	0.000978	0	12	191				
IL1RAP	3556	broad.mit.edu	37	3	190322124	190322124	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:190322124G>A	ENST00000412504.2	+	3	524	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IL1RAP_ENST00000447382.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R91H|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R91H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R91H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	91	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCCGAGAACCGCATTAGTAAG	0.527																																							uc003fsm.1		NA																	0				ovary(1)	1						c.(271-273)CGC>CAC		interleukin 1 receptor accessory protein isoform							90.0	81.0	84.0					3																	190322124		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190322124G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.272G>A	3.37:g.190322124G>A	ENSP00000412053:p.Arg91His					IL1RAP_uc003fsk.2_Missense_Mutation_p.R91H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R91H|IL1RAP_uc010hzf.2_Intron|IL1RAP_uc010hzg.1_Missense_Mutation_p.R91H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R91H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R91H	p.R91H	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	4	478	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		91			Ig-like C2-type 1.|Extracellular (Potential).		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.272G>A	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707478	0.68615	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	M	0.82517	2.595	0.47949	D	0.999556	P;P;P	0.49862	0.774;0.599;0.929	B;B;B	0.42692	0.113;0.112;0.395	T	0.82772	-0.0292	10	0.59425	D	0.04	.	12.4971	0.55933	0.0795:0.0:0.9205:0.0	.	91;91;91	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	H	91	ENSP00000072516:R91H;ENSP00000408893:R91H;ENSP00000412053:R91H;ENSP00000401132:R91H;ENSP00000390541:R91H;ENSP00000389149:R91H;ENSP00000409352:R91H;ENSP00000387371:R91H;ENSP00000314807:R91H;ENSP00000412008:R91H	ENSP00000072516:R91H	R	+	2	0	IL1RAP	191804818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.958000	0.70330	2.813000	0.96785	0.655000	0.94253	CGC		0.527	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			6	66	0	0	0	0.001168	0	6	66				
TFRC	7037	broad.mit.edu	37	3	195798336	195798336	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:195798336G>A	ENST00000360110.4	-	6	787	c.618C>T	c.(616-618)aaC>aaT	p.N206N	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_De_novo_Start_OutOfFrame|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Silent_p.N206N|TFRC_ENST00000420415.1_Silent_p.N125N	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	206					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CAAGTCTACCGTTCTTATCAA	0.388			T	BCL6	NHL																																		uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(616-618)AAC>AAT		transferrin receptor							134.0	125.0	128.0					3																	195798336		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195798336G>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.618C>T	3.37:g.195798336G>A						TFRC_uc003fwa.3_Silent_p.N206N|TFRC_uc010hzy.2_Silent_p.N125N|TFRC_uc011btr.1_Translation_Start_Site	p.N206N	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	6	901	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		206			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.618C>T	CCDS3312.1																																																																																				0.388	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			28	127	0	0	0	0.002445	0	28	127				
GAK	2580	broad.mit.edu	37	4	891922	891922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:891922G>A	ENST00000314167.4	-	6	660	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q105*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGGTCCCTTGGTTACTAAGC	0.537																																							uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(550-552)CAA>TAA		cyclin G associated kinase							139.0	119.0	125.0					4																	891922		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:891922G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.550C>T	4.37:g.891922G>A	ENSP00000314499:p.Gln184*					GAK_uc003gbn.3_Nonsense_Mutation_p.Q105*|GAK_uc010ibk.1_Nonsense_Mutation_p.Q78*|GAK_uc003gbl.3_Nonsense_Mutation_p.Q48*	p.Q184*	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	6	749	-			184			Protein kinase.		Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.550C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750786	0.69533	.	.	ENSG00000178950	ENST00000314167;ENST00000511163;ENST00000502656	.	.	.	4.72	4.72	0.59763	.	0.064498	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-28.3079	15.5596	0.76234	0.0:0.0:1.0:0.0	.	.	.	.	X	184;105;78	.	ENSP00000314499:Q184X	Q	-	1	0	GAK	881922	1.000000	0.71417	0.964000	0.40570	0.514000	0.34195	8.761000	0.91691	2.337000	0.79520	0.462000	0.41574	CAA		0.537	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		16	32	0	0	0	0.00499	0	16	32				
WHSC1	7468	broad.mit.edu	37	4	1955101	1955101	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:1955101T>C	ENST00000382895.3	+	14	2619	c.2188T>C	c.(2188-2190)Tgt>Cgt	p.C730R	WHSC1_ENST00000382892.2_Missense_Mutation_p.C730R|WHSC1_ENST00000382891.5_Missense_Mutation_p.C730R|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.C78R|WHSC1_ENST00000508803.1_Missense_Mutation_p.C730R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	730					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTTAAGCGCTGTGTGGTAAC	0.448			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2188-2190)TGT>CGT		Wolf-Hirschhorn syndrome candidate 1 protein							144.0	148.0	146.0					4																	1955101		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955101T>C	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2188T>C	4.37:g.1955101T>C	ENSP00000372351:p.Cys730Arg					WHSC1_uc003geb.3_Missense_Mutation_p.C730R|WHSC1_uc003gec.3_Missense_Mutation_p.C730R|WHSC1_uc003ged.3_Missense_Mutation_p.C730R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.C78R	p.C730R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	12	2364	+		all_epithelial(65;1.34e-05)	730			PHD-type 2.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2188T>C	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526051	0.85600	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58	5.67	5.67	0.87782	Zinc finger, RING-type (2);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000015	D	0.99042	0.9672	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.99521	1.0958	10	0.87932	D	0	.	15.8933	0.79318	0.0:0.0:0.0:1.0	.	78;730	A2A2T2;O96028	.;NSD2_HUMAN	R	730;730;730;730;78	ENSP00000423972:C730R;ENSP00000372347:C730R;ENSP00000372348:C730R;ENSP00000372351:C730R;ENSP00000372344:C78R	ENSP00000372344:C78R	C	+	1	0	WHSC1	1924899	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.831000	0.86748	2.158000	0.67659	0.533000	0.62120	TGT		0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		12	155	0	0	0	0.001368	0	12	155				
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:2083370G>A	ENST00000511885.2	-	22	2651	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_ENST00000382865.1_Silent_p.F766F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	766					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567								DNA polymerases (catalytic subunits)																															uc003ger.2		NA																	0				kidney(2)|ovary(1)|skin(1)	4						c.(2296-2298)TTC>TTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							144.0	119.0	127.0					4																	2083370		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2083370G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2298C>T	4.37:g.2083370G>A						POLN_uc010icg.1_Silent_p.F214F|POLN_uc010ich.1_Silent_p.F298F	p.F766F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		20	2298	-			766					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.2298C>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	8.223	0.802919	0.16397	.	.	ENSG00000130997	ENST00000511098	.	.	.	4.32	-3.65	0.04502	.	.	.	.	.	T	0.56863	0.2014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54344	-0.8308	4	.	.	.	-19.0225	11.8699	0.52515	0.6198:0.0:0.3802:0.0	.	.	.	.	L	399	.	.	S	-	2	0	POLN	2053168	0.989000	0.36119	0.890000	0.34922	0.919000	0.55068	0.274000	0.18680	-1.122000	0.02945	-1.267000	0.01435	TCG		0.567	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		4	37	0	0	0	0.000602	0	4	37				
ZFYVE28	57732	broad.mit.edu	37	4	2355658	2355658	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:2355658A>G	ENST00000290974.2	-	2	520		c.e2+1		ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515169.1_Splice_Site|ZFYVE28_ENST00000511071.1_Splice_Site|ZFYVE28_ENST00000515312.1_Splice_Site|ZFYVE28_ENST00000503000.1_Splice_Site	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28						negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCCGTGGCTCACCTGACAGGA	0.672																																							uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.e2+1		zinc finger, FYVE domain containing 28							13.0	13.0	13.0					4																	2355658		2194	4279	6473	SO:0001630	splice_region_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2355658A>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.180+1T>C	4.37:g.2355658A>G						ZFYVE28_uc011bvk.1_Splice_Site|ZFYVE28_uc011bvl.1_Splice_Site_p.Q60_splice|ZFYVE28_uc003gey.3_Splice_Site|ZFYVE28_uc003gez.2_Intron	p.Q60_splice	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			2	499	-								B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Splice_Site	SNP	ENST00000290974.2	37	c.180_splice	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.228431	0.79576	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000503000	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0141	0.64515	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE28	2325456	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.324000	0.90005	1.903000	0.55091	0.524000	0.50904	.		0.672	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371	Intron	4	12	0	0	0	0.009096	0	4	12				
MSX1	4487	broad.mit.edu	37	4	4864671	4864671	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:4864671T>C	ENST00000382723.4	+	2	947	c.713T>C	c.(712-714)cTg>cCg	p.L238P	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	238					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGAGAAGCTGAAGATGGCC	0.652																																							uc003gif.2		NA																	0					0						c.(712-714)CTG>CCG		msh homeobox 1							31.0	26.0	28.0					4																	4864671		2200	4297	6497	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864671T>C	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.713T>C	4.37:g.4864671T>C	ENSP00000372170:p.Leu238Pro						p.L238P	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	948	+			232					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.713T>C	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173671	0.78452	.	.	ENSG00000163132	ENST00000382723	D	0.90844	-2.74	4.84	4.84	0.62591	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.83483	2.645	0.80722	D	1	P	0.48503	0.911	P	0.45406	0.479	D	0.92058	0.5654	10	0.66056	D	0.02	-8.1318	10.8491	0.46759	0.0:0.0773:0.0:0.9227	.	232	P28360	MSX1_HUMAN	P	238	ENSP00000372170:L238P	ENSP00000372170:L238P	L	+	2	0	MSX1	4915572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.998000	0.63927	1.937000	0.56155	0.379000	0.24179	CTG		0.652	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			5	26	0	0	0	0.001168	0	5	26				
WFS1	7466	broad.mit.edu	37	4	6303549	6303549	+	Missense_Mutation	SNP	G	G	A	rs143055296		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:6303549G>A	ENST00000226760.1	+	8	2197	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	WFS1_ENST00000503569.1_Missense_Mutation_p.R676H	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	676					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCGGGCCACGCGCCTGGAAG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		20785	0.0		0.001	False		,,,				2504	0.0						uc003giy.2		NA																	0				central_nervous_system(2)	2						c.(2026-2028)CGC>CAC		wolframin							106.0	99.0	101.0					4																	6303549		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303549G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2027G>A	4.37:g.6303549G>A	ENSP00000226760:p.Arg676His					WFS1_uc003gix.2_Missense_Mutation_p.R676H|WFS1_uc003giz.2_Missense_Mutation_p.R494H	p.R676H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2193	+			676					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2027G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138745	0.37728	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.97138	-4.26;-4.26	5.49	5.49	0.81192	.	0.198803	0.44902	D	0.000409	D	0.97964	0.9330	M	0.72479	2.2	0.26097	N	0.980876	D	0.76494	0.999	P	0.62740	0.906	D	0.94301	0.7537	10	0.44086	T	0.13	-49.1078	18.357	0.90361	0.0:0.0:1.0:0.0	.	676	O76024	WFS1_HUMAN	H	676;676;54	ENSP00000423337:R676H;ENSP00000226760:R676H	ENSP00000226760:R676H	R	+	2	0	WFS1	6354450	0.399000	0.25287	0.937000	0.37676	0.552000	0.35366	1.737000	0.38197	2.589000	0.87451	0.561000	0.74099	CGC		0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			14	69	0	0	0	0.001855	0	14	69				
BOD1L1	259282	broad.mit.edu	37	4	13617056	13617056	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:13617056A>T	ENST00000040738.5	-	3	574	c.439T>A	c.(439-441)Ttc>Atc	p.F147I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	147						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGAGGTCTGAATGTGTGGTTG	0.438																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(439-441)TTC>ATC		biorientation of chromosomes in cell division							157.0	151.0	153.0					4																	13617056		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13617056A>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.439T>A	4.37:g.13617056A>T	ENSP00000040738:p.Phe147Ile					BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_RNA	p.F147I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			3	556	-			147					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.439T>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	34	5.385915	0.95967	.	.	ENSG00000038219	ENST00000040738	T	0.23348	1.91	5.51	5.51	0.81932	.	0.000000	0.44902	D	0.000413	T	0.50480	0.1618	M	0.68952	2.095	0.50813	D	0.999893	D	0.89917	1.0	D	0.91635	0.999	T	0.52525	-0.8564	10	0.72032	D	0.01	-4.9338	15.9232	0.79590	1.0:0.0:0.0:0.0	.	147	Q8NFC6	BOD1L_HUMAN	I	147	ENSP00000040738:F147I	ENSP00000040738:F147I	F	-	1	0	BOD1L	13226154	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.910000	0.92685	2.213000	0.71641	0.533000	0.62120	TTC		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	63	0	0	0	0.004482	0	8	63				
NCAPG	64151	broad.mit.edu	37	4	17824746	17824746	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:17824746G>A	ENST00000251496.2	+	8	1435	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	420					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GAAGGAGGAAGGTATGTCTAA	0.294																																							uc003gpp.2		NA																	0				large_intestine(1)	1						c.(1258-1260)AGA>AAA		chromosome condensation protein G							61.0	64.0	63.0					4																	17824746		2199	4291	6490	SO:0001630	splice_region_variant	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17824746G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1259+1G>A	4.37:g.17824746G>A						NCAPG_uc011bxj.1_5'UTR	p.R420K	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	8	1435	+			420			HEAT 6.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1259G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614733	0.66672	.	.	ENSG00000109805	ENST00000251496	T	0.66815	-0.23	5.16	4.32	0.51571	Armadillo-type fold (1);	0.040960	0.85682	D	0.000000	T	0.64438	0.2598	L	0.52905	1.665	0.80722	D	1	B	0.25772	0.134	B	0.31101	0.124	T	0.66771	-0.5839	10	0.87932	D	0	-2.6303	13.8928	0.63750	0.0732:0.0:0.9268:0.0	.	420	Q9BPX3	CND3_HUMAN	K	420	ENSP00000251496:R420K	ENSP00000251496:R420K	R	+	2	0	NCAPG	17433844	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.874000	0.75546	1.542000	0.49330	0.591000	0.81541	AGA		0.294	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	Missense_Mutation	10	32	0	0	0	0.008291	0	10	32				
PACRGL	133015	broad.mit.edu	37	4	20706396	20706396	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:20706396C>T	ENST00000503585.1	+	3	557	c.166C>T	c.(166-168)Cct>Tct	p.P56S	PACRGL_ENST00000538990.1_Missense_Mutation_p.P56S|PACRGL_ENST00000502374.1_Missense_Mutation_p.P56S|PACRGL_ENST00000444671.2_Missense_Mutation_p.P56S|PACRGL_ENST00000513459.1_Missense_Mutation_p.P56S|PACRGL_ENST00000502938.1_Missense_Mutation_p.P56S|PACRGL_ENST00000360916.5_Missense_Mutation_p.P56S|PACRGL_ENST00000507634.1_Missense_Mutation_p.P56S|PACRGL_ENST00000295290.8_Missense_Mutation_p.P56S	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	56										endometrium(2)|lung(7)|prostate(1)	10						AAAACTTCATCCTAGACCAAG	0.393																																							uc010iek.2		NA																	0					0						c.(166-168)CCT>TCT		PARK2 co-regulated-like isoform 1							133.0	125.0	128.0					4																	20706396		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20706396C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.166C>T	4.37:g.20706396C>T	ENSP00000423881:p.Pro56Ser					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.P104S|PACRGL_uc003gpz.2_Missense_Mutation_p.P56S|PACRGL_uc011bxm.1_Missense_Mutation_p.P56S|PACRGL_uc003gqa.2_Missense_Mutation_p.P56S|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.P56S|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.P56S|PACRGL_uc003gpy.2_Missense_Mutation_p.P56S	p.P56S	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			3	557	+			56					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.166C>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322840	0.81580	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.75398	0.3844	L	0.52364	1.645	0.43559	D	0.995878	D;P;D;D;D;P	0.89917	1.0;0.921;0.959;1.0;1.0;0.953	D;P;P;D;D;P	0.91635	0.998;0.472;0.625;0.999;0.997;0.672	T	0.74080	-0.3780	9	0.45353	T	0.12	-29.2394	18.912	0.92489	0.0:1.0:0.0:0.0	.	56;56;104;56;56;56	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	S	104;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56	.	ENSP00000295290:P56S	P	+	1	0	PACRGL	20315494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.089000	0.57685	2.778000	0.95560	0.655000	0.94253	CCT		0.393	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		19	75	0	0	0	0.010504	0	19	75				
PGM2	55276	broad.mit.edu	37	4	37836326	37836326	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:37836326C>T	ENST00000381967.4	+	3	436	c.336C>T	c.(334-336)tcC>tcT	p.S112S	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	112					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCATCCATCCAGTGGGGGTA	0.358																																							uc011byb.1		NA																	0				ovary(1)	1						c.(334-336)TCC>TCT		phosphoglucomutase 2							84.0	93.0	90.0					4																	37836326		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836326C>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.336C>T	4.37:g.37836326C>T						PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	p.S112S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			3	409	+			112					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.336C>T	CCDS3443.1																																																																																				0.358	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		16	56	0	0	0	0.006122	0	16	56				
ATP8A1	10396	broad.mit.edu	37	4	42509100	42509100	+	Silent	SNP	C	C	T	rs201201463	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:42509100C>T	ENST00000381668.5	-	23	2250	c.2019G>A	c.(2017-2019)acG>acA	p.T673T	ATP8A1_ENST00000264449.10_Silent_p.T658T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	673			T -> M (in dbSNP:rs3792687).		cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTTTCATTAGCGTTTCTATGG	0.373													c|||	4	0.000798722	0.0008	0.0	5008	,	,		19105	0.003		0.0	False		,,,				2504	0.0						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2017-2019)ACG>ACA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						195.0	180.0	185.0					4																	42509100		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42509100C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2019G>A	4.37:g.42509100C>T						ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.T658T	p.T673T	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			23	2251	-			673			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.2019G>A	CCDS3466.1																																																																																				0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		7	122	0	0	0	0.001984	0	7	122				
FRYL	285527	broad.mit.edu	37	4	48530280	48530280	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:48530280G>A	ENST00000503238.1	-	48	6976	c.6977C>T	c.(6976-6978)gCt>gTt	p.A2326V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.A2326V|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A2326V			O94915	FRYL_HUMAN	FRY-like	2326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTAGTGACAGCAATAACTTT	0.388																																							uc003gyh.1		NA																	0				skin(1)	1						c.(6976-6978)GCT>GTT		furry-like							106.0	94.0	98.0					4																	48530280		1872	4102	5974	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48530280G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6977C>T	4.37:g.48530280G>A	ENSP00000426064:p.Ala2326Val					FRYL_uc003gyg.1_Missense_Mutation_p.A1022V|FRYL_uc003gyi.1_Missense_Mutation_p.A1214V|FRYL_uc003gyj.1_Missense_Mutation_p.A621V	p.A2326V	NM_015030	NP_055845	O94915	FRYL_HUMAN			51	7582	-			2326					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6977C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246091	0.59103	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.25579	1.79;1.79;1.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.44542	1.39	0.80722	D	1	D;P;D	0.69078	0.997;0.907;0.969	D;P;P	0.75020	0.985;0.546;0.688	T	0.28933	-1.0028	10	0.54805	T	0.06	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	1156;2326;2326	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	V	2326	ENSP00000426064:A2326V;ENSP00000351113:A2326V;ENSP00000441114:A2326V	ENSP00000351113:A2326V	A	-	2	0	FRYL	48225037	1.000000	0.71417	0.580000	0.28601	0.218000	0.24690	9.721000	0.98766	2.648000	0.89879	0.561000	0.74099	GCT		0.388	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			8	46	0	0	0	0.00308	0	8	46				
AASDH	132949	broad.mit.edu	37	4	57244594	57244594	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:57244594C>A	ENST00000205214.6	-	4	568	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	AASDH_ENST00000513376.1_Missense_Mutation_p.D30Y|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.D130Y|AASDH_ENST00000502617.1_Missense_Mutation_p.D130Y|AASDH_ENST00000434343.2_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	130					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTAAATGTATCATAGTTCAAT	0.303																																							uc003hbn.2		NA																	0				ovary(4)	4						c.(388-390)GAT>TAT		aminoadipate-semialdehyde dehydrogenase							65.0	64.0	64.0					4																	57244594		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244594C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.388G>T	4.37:g.57244594C>A	ENSP00000205214:p.Asp130Tyr					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Missense_Mutation_p.D30Y|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.D130Y|AASDH_uc003hbp.2_Missense_Mutation_p.D130Y	p.D130Y	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			4	541	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	130					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.388G>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569788	0.13560	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000502617	T;T;T;T	0.64438	0.8;-0.1;2.77;0.8	5.95	3.18	0.36537	AMP-dependent synthetase/ligase (1);	0.618667	0.17642	N	0.167008	T	0.65407	0.2688	M	0.82630	2.6	0.09310	N	1	P;P;P	0.42296	0.73;0.775;0.707	P;B;B	0.45610	0.487;0.298;0.439	T	0.61724	-0.7004	10	0.66056	D	0.02	-8.0703	4.3269	0.11045	0.0:0.5049:0.1563:0.3388	.	130;130;130	Q4L235-4;Q4L235-3;Q4L235	.;.;ACSF4_HUMAN	Y	130;30;130;130	ENSP00000205214:D130Y;ENSP00000423760:D30Y;ENSP00000409656:D130Y;ENSP00000421171:D130Y	ENSP00000205214:D130Y	D	-	1	0	AASDH	56939351	0.006000	0.16342	0.005000	0.12908	0.014000	0.08584	0.487000	0.22356	0.861000	0.35504	0.655000	0.94253	GAT		0.303	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		11	27	1	0	6.40141e-05	0.000978	6.87682e-05	11	27				
UGT2B7	7364	broad.mit.edu	37	4	69978228	69978228	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:69978228A>G	ENST00000305231.7	+	6	1410	c.1364A>G	c.(1363-1365)aAg>aGg	p.K455R	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	455					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CAACCAGTGAAGCCCCTGGAT	0.418																																							uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1363-1365)AAG>AGG		UDP glucuronosyltransferase 2B7 precursor							100.0	103.0	102.0					4																	69978228		2203	4297	6500	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978228A>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1364A>G	4.37:g.69978228A>G	ENSP00000304811:p.Lys455Arg					UGT2B7_uc010ihq.2_3'UTR	p.K455R	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1410	+			455					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1364A>G	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548530	0.45383	.	.	ENSG00000171234	ENST00000305231	T	0.62364	0.03	2.13	2.13	0.27403	.	0.157039	0.41194	U	0.000937	T	0.73745	0.3626	M	0.89095	3.005	0.80722	D	1	P	0.50943	0.94	P	0.55011	0.766	T	0.75399	-0.3331	9	.	.	.	.	7.8854	0.29646	1.0:0.0:0.0:0.0	.	455	P16662	UD2B7_HUMAN	R	455	ENSP00000304811:K455R	.	K	+	2	0	UGT2B7	70012817	0.979000	0.34478	0.578000	0.28575	0.885000	0.51271	2.035000	0.41155	0.984000	0.38629	0.254000	0.18369	AAG		0.418	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		29	104	0	0	0	0.007291	0	29	104				
UGT2B7	7364	broad.mit.edu	37	4	69978313	69978313	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:69978313C>T	ENST00000305231.7	+	6	1495	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	483					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCACGACCTCACCTGGTTCC	0.478																																							uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1447-1449)CTC>CTT		UDP glucuronosyltransferase 2B7 precursor							175.0	166.0	169.0					4																	69978313		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978313C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1449C>T	4.37:g.69978313C>T						UGT2B7_uc010ihq.2_3'UTR	p.L483L	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1495	+			483					B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	37	c.1449C>T	CCDS3526.1																																																																																				0.478	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		32	110	0	0	0	0.004289	0	32	110				
UGT2B28	54490	broad.mit.edu	37	4	70152507	70152507	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:70152507G>A	ENST00000335568.5	+	3	910	c.908G>A	c.(907-909)gGt>gAt	p.G303D	UGT2B28_ENST00000511240.1_Missense_Mutation_p.G303D	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	303					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTGAAAATGGTGTTGTGGTG	0.413																																							uc003hej.2		NA																	0				skin(1)	1						c.(907-909)GGT>GAT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						145.0	163.0	157.0					4																	70152507		2064	4249	6313	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152507G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.908G>A	4.37:g.70152507G>A	ENSP00000334276:p.Gly303Asp					UGT2B28_uc010ihr.2_Missense_Mutation_p.G303D	p.G303D	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			3	910	+			303					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.908G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.77	1.443214	0.25987	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.69926	-0.44;-0.44	1.85	1.85	0.25348	.	0.000000	0.85682	U	0.000000	D	0.84840	0.5561	H	0.98525	4.255	0.27945	N	0.937376	P;D	0.58620	0.529;0.983	B;P	0.59948	0.331;0.866	T	0.78339	-0.2242	10	0.66056	D	0.02	.	9.3109	0.37903	0.0:0.0:1.0:0.0	.	303;303	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	D	303	ENSP00000334276:G303D;ENSP00000427399:G303D	ENSP00000334276:G303D	G	+	2	0	UGT2B28	70187096	1.000000	0.71417	0.878000	0.34440	0.053000	0.15095	6.610000	0.74178	1.023000	0.39654	0.184000	0.17185	GGT		0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		43	146	0	0	0	0.002852	0	43	146				
AMTN	401138	broad.mit.edu	37	4	71394465	71394465	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:71394465T>G	ENST00000339336.4	+	6	450	c.320T>G	c.(319-321)cTt>cGt	p.L107R	AMTN_ENST00000504451.1_Missense_Mutation_p.L106R	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	107					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GTCACACAACTTGGAGCCCAG	0.328																																							uc003hfk.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(319-321)CTT>CGT		amelotin precursor							86.0	88.0	88.0					4																	71394465		2202	4299	6501	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71394465T>G	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.320T>G	4.37:g.71394465T>G	ENSP00000341013:p.Leu107Arg					AMTN_uc010ihy.1_Missense_Mutation_p.L106R	p.L107R	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		6	409	+			107					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.320T>G	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916716	0.73098	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.47177	0.85;0.85	5.56	5.56	0.83823	.	0.406919	0.21212	N	0.078282	T	0.51873	0.1700	N	0.24115	0.695	0.34299	D	0.684131	D;D	0.61697	0.99;0.99	D;D	0.63192	0.912;0.912	T	0.65586	-0.6132	10	0.87932	D	0	-4.6279	12.3782	0.55291	0.0:0.0:0.0:1.0	.	106;107	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	R	107;106	ENSP00000341013:L107R;ENSP00000422452:L106R	ENSP00000341013:L107R	L	+	2	0	AMTN	71429054	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.799000	0.55529	2.238000	0.73509	0.533000	0.62120	CTT		0.328	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		3	31	0	0	0	0.004672	0	3	31				
DCK	1633	broad.mit.edu	37	4	71889417	71889417	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:71889417T>G	ENST00000286648.5	+	4	940	c.543T>G	c.(541-543)acT>acG	p.T181T	DCK_ENST00000504952.1_Silent_p.T181T|DCK_ENST00000504730.1_Silent_p.T181T	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	181					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TTCAAGCCACTCCAGAGGTAA	0.343																																							uc003hfx.2		NA																	0				ovary(1)	1						c.(541-543)ACT>ACG		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						48.0	54.0	52.0					4																	71889417		2200	4300	6500	SO:0001819	synonymous_variant	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71889417T>G	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.543T>G	4.37:g.71889417T>G						DCK_uc011cbb.1_Silent_p.T109T	p.T181T	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		4	831	+			181					B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	c.543T>G	CCDS3548.1																																																																																				0.343	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			9	24	0	0	0	0.004482	0	9	24				
NPFFR2	10886	broad.mit.edu	37	4	72897682	72897682	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:72897682G>T	ENST00000308744.6	+	1	162	c.64G>T	c.(64-66)Gca>Tca	p.A22S	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A22S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	22					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGTCTCATCTGCACCGGACAA	0.637																																							uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(64-66)GCA>TCA		neuropeptide FF receptor 2 isoform 1							35.0	41.0	39.0					4																	72897682		2200	4299	6499	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897682G>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.64G>T	4.37:g.72897682G>T	ENSP00000307822:p.Ala22Ser					NPFFR2_uc010iig.1_5'UTR	p.A22S	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	162	+			22			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.64G>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	7.295	0.611940	0.14066	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.74947	-0.89	2.42	0.551	0.17225	.	.	.	.	.	T	0.51753	0.1693	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	9	0.34782	T	0.22	.	8.808	0.34950	0.0:0.0:0.6183:0.3817	.	22	Q9Y5X5	NPFF2_HUMAN	S	22	ENSP00000307822:A22S	ENSP00000307822:A22S	A	+	1	0	NPFFR2	73116546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.322000	0.08007	-0.148000	0.11234	-2.386000	0.00229	GCA		0.637	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		18	53	1	0	8.34094e-07	0.008871	9.30594e-07	18	53				
CCDC158	339965	broad.mit.edu	37	4	77276548	77276548	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:77276548T>C	ENST00000388914.3	-	14	2367	c.2215A>G	c.(2215-2217)Aaa>Gaa	p.K739E	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	739										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGACCTCTTTTGGCTGTGATT	0.423																																							uc003hkb.3		NA																	0				skin(3)|ovary(2)|pancreas(1)	6						c.(2215-2217)AAA>GAA		coiled-coil domain containing 158							248.0	227.0	234.0					4																	77276548		1905	4127	6032	SO:0001583	missense	339965							g.chr4:77276548T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2215A>G	4.37:g.77276548T>C	ENSP00000373566:p.Lys739Glu						p.K739E	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			14	2368	-			739			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2215A>G	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246126	0.80024	.	.	ENSG00000163749	ENST00000388914	T	0.76186	-1.0	5.24	5.24	0.73138	.	0.077177	0.49305	D	0.000157	T	0.71821	0.3385	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.66858	-0.5817	10	0.10636	T	0.68	.	12.748	0.57291	0.0:0.0:0.0:1.0	.	739	Q5M9N0	CD158_HUMAN	E	739	ENSP00000373566:K739E	ENSP00000373566:K739E	K	-	1	0	CCDC158	77495572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.204000	0.65180	2.195000	0.70347	0.533000	0.62120	AAA		0.423	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		29	89	0	0	0	0.002096	0	29	89				
SHROOM3	57619	broad.mit.edu	37	4	77677915	77677915	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:77677915A>C	ENST00000296043.6	+	8	5976	c.5023A>C	c.(5023-5025)Att>Ctt	p.I1675L	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1675	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCAAGGAAATTGTCCACCA	0.458																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(5023-5025)ATT>CTT		shroom family member 3 protein							70.0	73.0	72.0					4																	77677915		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77677915A>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5023A>C	4.37:g.77677915A>C	ENSP00000296043:p.Ile1675Leu					SHROOM3_uc003hkg.2_Missense_Mutation_p.I1453L	p.I1675L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		8	5976	+			1675			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5023A>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862868	0.91511	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.28895	1.59	5.27	5.27	0.74061	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000005	T	0.48660	0.1512	L	0.45422	1.42	0.48696	D	0.999699	D	0.76494	0.999	D	0.85130	0.997	T	0.49969	-0.8882	10	0.87932	D	0	-13.3669	15.4868	0.75573	1.0:0.0:0.0:0.0	.	1675	Q8TF72	SHRM3_HUMAN	L	1675;152	ENSP00000296043:I1675L	ENSP00000264907:I152L	I	+	1	0	SHROOM3	77896939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.149000	0.89632	2.119000	0.64992	0.477000	0.44152	ATT		0.458	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		9	76	0	0	0	0.006214	0	9	76				
SEPT11	55752	broad.mit.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438																																							uc003hkj.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(676-678)GCA>ACA		septin 11							127.0	115.0	119.0					4																	77936159		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77936159G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.676G>A	4.37:g.77936159G>A	ENSP00000264893:p.Ala226Thr					SEPT11_uc010ijh.1_Missense_Mutation_p.A218T|SEPT11_uc011cca.1_Missense_Mutation_p.A236T|SEPT11_uc003hkk.1_Missense_Mutation_p.A26T	p.A226T	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			5	838	+			226					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.676G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846765	0.32606	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.36110	0.0955	N	0.17901	0.54	0.47994	D	0.999564	B;B;B	0.27316	0.145;0.015;0.175	B;B;B	0.21708	0.021;0.013;0.036	T	0.09015	-1.0694	10	0.25106	T	0.35	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	236;218;226	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	T	226;226;218;226;236;236	ENSP00000264893:A226T;ENSP00000426344:A226T;ENSP00000420839:A218T;ENSP00000424925:A226T;ENSP00000422896:A236T;ENSP00000443701:A236T	ENSP00000264893:A226T	A	+	1	0	SEPT11	78155183	1.000000	0.71417	0.381000	0.26106	0.006000	0.05464	4.064000	0.57506	2.687000	0.91594	0.655000	0.94253	GCA		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		17	48	0	0	0	0.006122	0	17	48				
RASGEF1B	153020	broad.mit.edu	37	4	82380611	82380611	+	Silent	SNP	G	G	T	rs547905973		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:82380611G>T	ENST00000264400.2	-	2	203	c.52C>A	c.(52-54)Cga>Aga	p.R18R	RASGEF1B_ENST00000514889.1_5'Flank|RASGEF1B_ENST00000436139.2_Silent_p.R18R|RASGEF1B_ENST00000335927.7_Silent_p.R18R|RASGEF1B_ENST00000509081.1_Silent_p.R18R	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	18					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TAGAGGTTTCGATTGTAACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20634	0.0		0.0	False		,,,				2504	0.001						uc003hmi.1		NA																	0					0						c.(52-54)CGA>AGA		RasGEF domain family, member 1B							88.0	85.0	86.0					4																	82380611		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82380611G>T	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.52C>A	4.37:g.82380611G>T						RASGEF1B_uc003hmj.1_Silent_p.R18R|RASGEF1B_uc010ijq.1_Silent_p.R18R|RASGEF1B_uc003hmk.2_Silent_p.R18R	p.R18R	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			2	196	-			18					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.52C>A	CCDS34022.1																																																																																				0.428	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	58	1	0	1.23904e-05	0.000602	1.35089e-05	5	58				
HELQ	113510	broad.mit.edu	37	4	84358134	84358134	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:84358134T>C	ENST00000295488.3	-	9	2087	c.1925A>G	c.(1924-1926)tAt>tGt	p.Y642C	HELQ_ENST00000510985.1_Missense_Mutation_p.Y575C	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	642	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACTGTGGTGATAGGCAACTCC	0.448								Other identified genes with known or suspected DNA repair function																															uc003hom.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1924-1926)TAT>TGT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							131.0	122.0	125.0					4																	84358134		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84358134T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1925A>G	4.37:g.84358134T>C	ENSP00000295488:p.Tyr642Cys					HELQ_uc010ikb.2_Missense_Mutation_p.Y575C|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.Y642C	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			9	2104	-			642			Helicase C-terminal.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1925A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.108094	0.56291	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.57595	0.39;0.39	5.89	5.89	0.94794	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80400	-0.1398	10	0.87932	D	0	-7.1993	16.3071	0.82852	0.0:0.0:0.0:1.0	.	575;642	E3W980;Q8TDG4	.;HELQ_HUMAN	C	642;575	ENSP00000295488:Y642C;ENSP00000424539:Y575C	ENSP00000295488:Y642C	Y	-	2	0	HELQ	84577158	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	7.962000	0.87912	2.250000	0.74265	0.477000	0.44152	TAT		0.448	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		7	17	0	0	0	0.001984	0	7	17				
MMRN1	22915	broad.mit.edu	37	4	90856406	90856406	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:90856406G>T	ENST00000394980.1	+	7	1894	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q525H|MMRN1_ENST00000508372.1_Missense_Mutation_p.Q267H			Q13201	MMRN1_HUMAN	multimerin 1	525					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAACTGAACAGGTATCAGACC	0.363																																							uc003hst.2		NA																	0				ovary(4)	4						c.(1573-1575)CAG>CAT		multimerin 1							90.0	90.0	90.0					4																	90856406		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856406G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1575G>T	4.37:g.90856406G>T	ENSP00000378431:p.Gln525His					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q267H	p.Q525H	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1646	+		Hepatocellular(203;0.114)	525					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1575G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	0.519	-0.863128	0.02610	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66815	0.12;0.12;-0.23	4.04	0.236	0.15471	.	0.628830	0.15381	N	0.265308	T	0.54208	0.1844	M	0.62723	1.935	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.48570	-0.9024	10	0.46703	T	0.11	.	1.102	0.01686	0.2942:0.1799:0.3511:0.1747	.	525	Q13201	MMRN1_HUMAN	H	525;525;267	ENSP00000378431:Q525H;ENSP00000264790:Q525H;ENSP00000426461:Q267H	ENSP00000264790:Q525H	Q	+	3	2	MMRN1	91075429	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.340000	0.19892	0.041000	0.15688	-0.469000	0.05056	CAG		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		30	76	1	0	1.74807e-11	0.002096	2.11949e-11	30	76				
GRID2	2895	broad.mit.edu	37	4	94344008	94344008	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:94344008A>T	ENST00000282020.4	+	10	1692	c.1434A>T	c.(1432-1434)ttA>ttT	p.L478F	GRID2_ENST00000510992.1_Missense_Mutation_p.L383F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	478					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGGATGCCTTATCTAACTACC	0.428																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1432-1434)TTA>TTT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						123.0	123.0	123.0					4																	94344008		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344008A>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1434A>T	4.37:g.94344008A>T	ENSP00000282020:p.Leu478Phe					GRID2_uc011cdu.1_Missense_Mutation_p.L383F	p.L478F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1692	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	478			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1434A>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.766905	0.69878	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.32515	1.45;1.45	5.23	0.17	0.15021	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	T	0.50769	0.1635	M	0.78916	2.43	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.85130	0.992;0.997	T	0.50898	-0.8773	10	0.87932	D	0	.	9.6209	0.39721	0.6167:0.0:0.3833:0.0	.	383;478	E9PH24;O43424	.;GRID2_HUMAN	F	478;383	ENSP00000282020:L478F;ENSP00000421257:L383F	ENSP00000282020:L478F	L	+	3	2	GRID2	94563031	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	1.179000	0.31993	0.031000	0.15407	-0.297000	0.09499	TTA		0.428	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			10	31	0	0	0	0.008291	0	10	31				
BMPR1B	658	broad.mit.edu	37	4	96051154	96051154	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:96051154A>T	ENST00000515059.1	+	9	1010	c.727A>T	c.(727-729)Aga>Tga	p.R243*	BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.R243*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.R273*|BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.R243*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAGCTGGTTCAGAGAGACAGA	0.453																																							uc003htm.3		NA																	0				lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(727-729)AGA>TGA		bone morphogenetic protein receptor, type IB							132.0	133.0	133.0					4																	96051154		2203	4300	6503	SO:0001587	stop_gained	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96051154A>T	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.727A>T	4.37:g.96051154A>T	ENSP00000426617:p.Arg243*					BMPR1B_uc010ilb.2_Nonsense_Mutation_p.R243*|BMPR1B_uc003htn.3_Nonsense_Mutation_p.R243*	p.R243*	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	9	1001	+		Hepatocellular(203;0.114)	243			Cytoplasmic (Potential).|Protein kinase.		B2R953|B4DSV1|P78366	Nonsense_Mutation	SNP	ENST00000515059.1	37	c.727A>T	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	36	5.712377	0.96830	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	.	.	.	5.74	0.833	0.18875	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9331	0.97128	0.2068:0.7932:0.0:0.0	.	.	.	.	X	243;243;243;273;243;243	.	ENSP00000264568:R243X	R	+	1	2	BMPR1B	96270177	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.069000	0.30641	-0.060000	0.13132	0.451000	0.29950	AGA		0.453	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		10	49	0	0	0	0.006214	0	10	49				
STPG2	285555	broad.mit.edu	37	4	98865118	98865118	+	Nonsense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:98865118A>C	ENST00000295268.3	-	8	1063	c.974T>G	c.(973-975)tTa>tGa	p.L325*		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	325																	CAAGTTAGGTAATTCATCAGA	0.338																																							uc003htt.1		NA																	0					0						c.(973-975)TTA>TGA		hypothetical protein LOC285555							128.0	125.0	126.0					4																	98865118		2203	4300	6503	SO:0001587	stop_gained	285555							g.chr4:98865118A>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.974T>G	4.37:g.98865118A>C	ENSP00000295268:p.Leu325*						p.L325*	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	8	1064	-			325						Nonsense_Mutation	SNP	ENST00000295268.3	37	c.974T>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	34	5.344343	0.95807	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	.	.	.	4.0	1.57	0.23409	.	0.924084	0.08994	N	0.864045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-29.8395	5.6849	0.17797	0.7813:0.0:0.2187:0.0	.	.	.	.	X	39;325	.	ENSP00000295268:L325X	L	-	2	0	C4orf37	99084141	0.078000	0.21339	0.281000	0.24762	0.852000	0.48524	1.085000	0.30840	0.364000	0.24374	0.456000	0.33151	TTA		0.338	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		11	75	0	0	0	0.000978	0	11	75				
ETNPPL	64850	broad.mit.edu	37	4	109677636	109677636	+	Missense_Mutation	SNP	G	G	T	rs377536327		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:109677636G>T	ENST00000296486.3	-	4	502	c.348C>A	c.(346-348)aaC>aaA	p.N116K	ETNPPL_ENST00000512646.1_Missense_Mutation_p.N58K|ETNPPL_ENST00000411864.2_Missense_Mutation_p.N110K|ETNPPL_ENST00000510706.1_Missense_Mutation_p.N76K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	116						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGGCTAAGTCGTTGGCTTCGG	0.468																																							uc003hzc.2		NA																	0				ovary(1)	1						c.(346-348)AAC>AAA		alanine-glyoxylate aminotransferase 2-like 1							82.0	79.0	80.0					4																	109677636		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109677636G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.348C>A	4.37:g.109677636G>T	ENSP00000296486:p.Asn116Lys					AGXT2L1_uc010imc.2_Missense_Mutation_p.N110K|AGXT2L1_uc011cfm.1_Missense_Mutation_p.N76K|AGXT2L1_uc011cfn.1_Missense_Mutation_p.N43K|AGXT2L1_uc011cfo.1_Missense_Mutation_p.N58K	p.N116K	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	4	529	-			116					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.348C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519970	0.64634	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706;ENST00000512320;ENST00000510723	T;T;T;T;D;D	0.86769	0.65;0.65;0.65;0.65;-2.17;-2.17	5.61	1.9	0.25705	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	H	0.99712	4.72	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.997	D;D;D	0.77557	0.99;0.971;0.958	D	0.93753	0.7060	9	.	.	.	-24.9546	9.0259	0.36230	0.784:0.0:0.216:0.0	.	58;110;116	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	K	116;110;58;76;43;58	ENSP00000296486:N116K;ENSP00000392269:N110K;ENSP00000427065:N58K;ENSP00000423240:N76K;ENSP00000421217:N43K;ENSP00000426525:N58K	.	N	-	3	2	AGXT2L1	109897085	0.993000	0.37304	1.000000	0.80357	0.888000	0.51559	0.524000	0.22940	0.098000	0.17522	-0.471000	0.05019	AAC		0.468	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		11	37	1	0	1.61879e-10	0.001368	1.94005e-10	11	37				
ANK2	287	broad.mit.edu	37	4	114278693	114278694	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:114278693_114278694GG>TT	ENST00000357077.4	+	38	8972_8973	c.8919_8920GG>TT	c.(8917-8922)gtGGca>gtTTca	p.A2974S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2941S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2974					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGTTGTAGTGGCAAGCTCCTC	0.411																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8917-8922)GTGGCA>GTTTCA		ankyrin 2 isoform 1																																				SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278693_114278694GG>TT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	Exception_encountered	4.37:g.114278693_114278694delinsTT	ENSP00000349588:p.Ala2974Ser					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.A276S|ANK2_uc011cgb.1_Missense_Mutation_p.A2989S	p.A2974S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9019_9020	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2941					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	DNP	ENST00000357077.4	37	c.8919_8920GG>TT	CCDS3702.1																																																																																				0.411	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		59	125	0	0	0	0.004672	0	59	125				
PRSS12	8492	broad.mit.edu	37	4	119234547	119234547	+	Missense_Mutation	SNP	C	C	T	rs537006274		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:119234547C>T	ENST00000296498.3	-	7	1580	c.1298G>A	c.(1297-1299)gGt>gAt	p.G433D		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	433	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGCTTGTTTACCATATCTGTG	0.413																																							uc003ica.1		NA																	0				skin(1)	1						c.(1297-1299)GGT>GAT		neurotrypsin precursor							116.0	107.0	110.0					4																	119234547		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119234547C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1298G>A	4.37:g.119234547C>T	ENSP00000296498:p.Gly433Asp						p.G433D	NM_003619	NP_003610	P56730	NETR_HUMAN			7	1345	-			433			SRCR 3.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1298G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564128	0.65651	.	.	ENSG00000164099	ENST00000296498	T	0.29397	1.57	5.77	5.77	0.91146	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.192988	0.56097	D	0.000035	T	0.61035	0.2315	M	0.83692	2.655	0.48341	D	0.99963	D	0.89917	1.0	D	0.77004	0.989	T	0.64685	-0.6349	10	0.72032	D	0.01	.	18.1688	0.89737	0.0:1.0:0.0:0.0	.	433	P56730	NETR_HUMAN	D	433	ENSP00000296498:G433D	ENSP00000296498:G433D	G	-	2	0	PRSS12	119453995	1.000000	0.71417	0.992000	0.48379	0.623000	0.37688	3.975000	0.56859	2.717000	0.92951	0.650000	0.86243	GGT		0.413	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			15	43	0	0	0	0.004007	0	15	43				
ANKRD50	57182	broad.mit.edu	37	4	125631202	125631202	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:125631202G>A	ENST00000504087.1	-	2	1502	c.465C>T	c.(463-465)ctC>ctT	p.L155L	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	155										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAGGCTGTAAGAGGCTTTGGA	0.443																																							uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(463-465)CTC>CTT		ankyrin repeat domain 50							68.0	71.0	70.0					4																	125631202		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125631202G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.465C>T	4.37:g.125631202G>A						ANKRD50_uc011cgo.1_Intron|ANKRD50_uc010inw.2_Silent_p.L155L	p.L155L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			1	731	-			155					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.465C>T	CCDS34060.1																																																																																				0.443	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		15	47	0	0	0	0.004007	0	15	47				
FAT4	79633	broad.mit.edu	37	4	126241714	126241714	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:126241714A>T	ENST00000394329.3	+	1	4161	c.4148A>T	c.(4147-4149)cAg>cTg	p.Q1383L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1383	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGAAACACAGTCTTTGTAT	0.363																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4147-4149)CAG>CTG		FAT tumor suppressor homolog 4 precursor							108.0	102.0	104.0					4																	126241714		1825	4083	5908	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241714A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4148A>T	4.37:g.126241714A>T	ENSP00000377862:p.Gln1383Leu						p.Q1383L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4148	+			1383			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4148A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.00	2.403959	0.42613	.	.	ENSG00000196159	ENST00000394329	T	0.01767	4.65	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.04815	0.0130	L	0.27053	0.805	0.80722	D	1	P	0.51240	0.943	D	0.69479	0.964	T	0.63967	-0.6517	10	0.27785	T	0.31	.	14.6255	0.68618	1.0:0.0:0.0:0.0	.	1383	Q6V0I7	FAT4_HUMAN	L	1383	ENSP00000377862:Q1383L	ENSP00000377862:Q1383L	Q	+	2	0	FAT4	126461164	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	8.949000	0.93012	2.050000	0.60909	0.533000	0.62120	CAG		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		37	89	0	0	0	0.003271	0	37	89				
NR3C2	4306	broad.mit.edu	37	4	149356882	149356882	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:149356882A>G	ENST00000358102.3	-	2	1493	c.1131T>C	c.(1129-1131)acT>acC	p.T377T	NR3C2_ENST00000344721.4_Silent_p.T377T|NR3C2_ENST00000355292.3_Silent_p.T377T|NR3C2_ENST00000511528.1_Silent_p.T377T|NR3C2_ENST00000512865.1_Silent_p.T377T	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	377	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTACTTCCTCAGTCTTAGGAA	0.498																																					Melanoma(27;428 957 40335 51025 51111)	Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(1129-1131)ACT>ACC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						102.0	99.0	100.0					4																	149356882		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356882A>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1131T>C	4.37:g.149356882A>G						NR3C2_uc003ilk.3_Silent_p.T377T|NR3C2_uc010iph.2_RNA	p.T377T	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1465	-	all_hematologic(180;0.151)		377			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.1131T>C	CCDS3772.1																																																																																				0.498	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			19	72	0	0	0	0.008871	0	19	72				
LRBA	987	broad.mit.edu	37	4	151509207	151509207	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:151509207T>C	ENST00000357115.3	-	41	6599	c.6356A>G	c.(6355-6357)gAc>gGc	p.D2119G	LRBA_ENST00000510413.1_Missense_Mutation_p.D2108G|LRBA_ENST00000507224.1_Missense_Mutation_p.D2108G|LRBA_ENST00000535741.1_Missense_Mutation_p.D2108G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2119						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACCTTGGGGTCGATTTTTTT	0.448																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6355-6357)GAC>GGC		LPS-responsive vesicle trafficking, beach and							154.0	169.0	164.0					4																	151509207		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509207T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6356A>G	4.37:g.151509207T>C	ENSP00000349629:p.Asp2119Gly					LRBA_uc003ilt.3_Missense_Mutation_p.D767G|LRBA_uc003ilu.3_Missense_Mutation_p.D2108G	p.D2119G	NM_006726	NP_006717	P50851	LRBA_HUMAN			41	6830	-	all_hematologic(180;0.151)		2119					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6356A>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.20|19.20	3.781053|3.781053	0.70222|0.70222	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.59638|.	0.67;0.82;0.67;0.25|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PH-BEACH domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74627|0.74627	0.3741|0.3741	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	P;B|.	0.40619|.	0.724;0.018|.	B;B|.	0.33042|.	0.157;0.034|.	T|T	0.74057|0.74057	-0.3787|-0.3787	10|5	0.42905|.	T|.	0.14|.	.|.	16.5655|16.5655	0.84588|0.84588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2119;2108|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	G|A	2108;2108;2119;2108|761	ENSP00000446299:D2108G;ENSP00000421552:D2108G;ENSP00000349629:D2119G;ENSP00000422180:D2108G|.	ENSP00000349629:D2119G|.	D|T	-|-	2|1	0|0	LRBA|LRBA	151728657|151728657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.033000|8.033000	0.88852|0.88852	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	GAC|ACC		0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			31	258	0	0	0	0.002836	0	31	258				
TDO2	6999	broad.mit.edu	37	4	156835562	156835562	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:156835562C>G	ENST00000536354.2	+	8	878	c.814C>G	c.(814-816)Cgt>Ggt	p.R272G		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TGATGAGAAACGTCATGAACA	0.348																																					Colon(57;928 1036 2595 6946 26094)	Colon(57;928 1036 2595 6946 26094)	uc003ipf.1		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(814-816)CGT>GGT		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						110.0	112.0	111.0					4																	156835562		2202	4300	6502	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156835562C>G		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.814C>G	4.37:g.156835562C>G	ENSP00000444788:p.Arg272Gly						p.R272G	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	8	878	+	all_hematologic(180;0.24)	Renal(120;0.0854)	272						Missense_Mutation	SNP	ENST00000536354.2	37	c.814C>G	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845611	0.71603	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.66	5.66	0.87406	.	0.046263	0.85682	D	0.000000	T	0.71467	0.3343	M	0.75447	2.3	0.80722	D	1	P	0.42161	0.772	P	0.47981	0.563	T	0.66276	-0.5964	9	0.22109	T	0.4	-17.9098	20.1041	0.97884	0.0:1.0:0.0:0.0	.	272	P48775	T23O_HUMAN	G	272	.	ENSP00000281525:R272G	R	+	1	0	TDO2	157055012	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.262000	0.58847	2.826000	0.97356	0.655000	0.94253	CGT		0.348	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		8	34	0	0	0	0.008291	0	8	34				
RXFP1	59350	broad.mit.edu	37	4	159520482	159520482	+	Silent	SNP	C	C	A	rs371018779		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:159520482C>A	ENST00000307765.5	+	4	542	c.291C>A	c.(289-291)gtC>gtA	p.V97V	RXFP1_ENST00000460056.2_Silent_p.V16V|RXFP1_ENST00000423548.1_Silent_p.V97V|RXFP1_ENST00000470033.1_Silent_p.V64V|RXFP1_ENST00000343542.5_Silent_p.V97V|RXFP1_ENST00000448688.2_Silent_p.V16V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	97	LRRNT.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTCAGTGGTCGGTTCTGTGC	0.443																																							uc003ipz.2		NA																	0					0						c.(289-291)GTC>GTA		relaxin/insulin-like family peptide receptor 1		C		0,3896		0,0,1948	125.0	115.0	119.0		291	-5.9	0.1	4		119	1,8305		0,1,4152	no	coding-synonymous	RXFP1	NM_021634.2		0,1,6100	AA,AC,CC		0.012,0.0,0.0082		97/758	159520482	1,12201	1948	4153	6101	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159520482C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.291C>A	4.37:g.159520482C>A						RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_Silent_p.V16V|RXFP1_uc010iqo.2_Silent_p.V97V|RXFP1_uc011cjb.1_Silent_p.V43V|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_Silent_p.V16V|RXFP1_uc011cjd.1_Silent_p.V16V|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Silent_p.V124V|RXFP1_uc010iqm.2_Silent_p.V64V|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Silent_p.V43V	p.V97V	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	4	373	+	all_hematologic(180;0.24)	Renal(120;0.0854)	97			Extracellular (Potential).|LRRNT.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.291C>A	CCDS43276.1																																																																																				0.443	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		13	26	1	0	6.31663e-08	0.003163	7.26909e-08	13	26				
TLL1	7092	broad.mit.edu	37	4	166981331	166981331	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:166981331A>T	ENST00000061240.2	+	15	2645	c.1998A>T	c.(1996-1998)gaA>gaT	p.E666D	TLL1_ENST00000507499.1_Missense_Mutation_p.E689D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	666	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGAATTGGAAGGCAATGAAG	0.363																																							uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1996-1998)GAA>GAT		tolloid-like 1 precursor							86.0	90.0	88.0					4																	166981331		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981331A>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1998A>T	4.37:g.166981331A>T	ENSP00000061240:p.Glu666Asp					TLL1_uc011cjn.1_Missense_Mutation_p.E689D|TLL1_uc011cjo.1_Missense_Mutation_p.E490D	p.E666D	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2645	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	666			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1998A>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141412	0.77775	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.37235	1.21;1.21	5.78	-0.317	0.12736	CUB (5);	0.000000	0.85682	U	0.000000	T	0.62171	0.2406	M	0.90145	3.09	0.80722	D	1	D;D	0.76494	0.975;0.999	P;D	0.74348	0.765;0.983	T	0.69075	-0.5241	10	0.59425	D	0.04	.	13.1589	0.59533	0.8339:0.0:0.1661:0.0	.	689;666	E9PD25;O43897	.;TLL1_HUMAN	D	666;689	ENSP00000061240:E666D;ENSP00000426082:E689D	ENSP00000061240:E666D	E	+	3	2	TLL1	167200781	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	1.229000	0.32600	0.013000	0.14918	0.482000	0.46254	GAA		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			12	42	0	0	0	0.001855	0	12	42				
CLCN3	1182	broad.mit.edu	37	4	170641086	170641086	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:170641086G>A	ENST00000513761.1	+	13	2954	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	CLCN3_ENST00000360642.3_Missense_Mutation_p.D772N|CLCN3_ENST00000347613.4_Missense_Mutation_p.R824K|CLCN3_ENST00000504131.2_Missense_Mutation_p.D782N	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	799	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AACAAAAAAAGATATCCTCCG	0.408																																							uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(2395-2397)GAT>AAT		chloride channel 3 isoform b							54.0	58.0	57.0					4																	170641086		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170641086G>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2395G>A	4.37:g.170641086G>A	ENSP00000424603:p.Asp799Asn					CLCN3_uc003ish.2_Missense_Mutation_p.R824K|CLCN3_uc011cjz.1_Missense_Mutation_p.D782N|CLCN3_uc011cka.1_Missense_Mutation_p.D772N|uc003isk.1_5'Flank	p.D799N	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	13	2904	+		Prostate(90;0.00601)|Renal(120;0.0183)	799			CBS 2.|ATP (By similarity).|Cytoplasmic (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2395G>A	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881166|3.881166	0.72294|0.72294	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000513761;ENST00000360642;ENST00000504131|ENST00000347613	D;D;D|D	0.97665|0.88818	-4.48;-4.48;-4.48|-2.43	5.52|5.52	4.68|4.68	0.58851|0.58851	Cystathionine beta-synthase, core (3);|.	.|0.058843	.|0.64402	.|N	.|0.000002	D|D	0.85008|0.85008	0.5599|0.5599	.|.	.|.	.|.	0.34989|0.34989	D|D	0.754796|0.754796	B;B;B|B	0.26041|0.06786	0.14;0.14;0.14|0.001	B;B;B|B	0.42827|0.04013	0.352;0.399;0.352|0.001	D|D	0.84965|0.84965	0.0879|0.0879	8|9	0.56958|0.51188	D|T	0.05|0.08	-9.6764|-9.6764	14.0767|14.0767	0.64893|0.64893	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.	772;782;799|824	B7Z932;B9EGJ9;P51790|P51790-2	.;.;CLCN3_HUMAN|.	N|K	799;772;782|824	ENSP00000424603:D799N;ENSP00000353857:D772N;ENSP00000424540:D782N|ENSP00000261514:R824K	ENSP00000353857:D772N|ENSP00000261514:R824K	D|R	+|+	1|2	0|0	CLCN3|CLCN3	170877661|170877661	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.864000|9.864000	0.99589|0.99589	1.322000|1.322000	0.45245|0.45245	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.408	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			10	45	0	0	0	0.001368	0	10	45				
ADAM29	11086	broad.mit.edu	37	4	175897731	175897731	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:175897731C>A	ENST00000359240.3	+	5	1725	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	ADAM29_ENST00000514159.1_Missense_Mutation_p.P352H|ADAM29_ENST00000404450.4_Missense_Mutation_p.P352H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P352H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTCACAACCTAGATGCATA	0.378																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1054-1056)CCT>CAT		ADAM metallopeptidase domain 29 preproprotein							137.0	133.0	134.0					4																	175897731		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897731C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1055C>A	4.37:g.175897731C>A	ENSP00000352177:p.Pro352His					ADAM29_uc003iud.2_Missense_Mutation_p.P352H|ADAM29_uc010irr.2_Missense_Mutation_p.P352H|ADAM29_uc011cki.1_Missense_Mutation_p.P352H	p.P352H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1725	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	352			Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1055C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	3.578	-0.086114	0.07097	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	3.6	-7.2	0.01495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.132410	0.01718	U	0.028122	T	0.06325	0.0163	N	0.25201	0.72	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.26326	-1.0106	9	.	.	.	.	4.0682	0.09871	0.2692:0.4813:0.1474:0.1021	.	352	Q9UKF5	ADA29_HUMAN	H	352	ENSP00000352177:P352H;ENSP00000414544:P352H;ENSP00000384229:P352H;ENSP00000423517:P352H	.	P	+	2	0	ADAM29	176134306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.864000	0.01650	-2.470000	0.00530	-2.406000	0.00223	CCT		0.378	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				11	123	1	0	0.00136819	0.001368	0.00143632	11	123				
VEGFC	7424	broad.mit.edu	37	4	177650751	177650751	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:177650751G>T	ENST00000280193.2	-	2	712	c.297C>A	c.(295-297)ctC>ctA	p.L99L	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373																																							uc003ius.1		NA																	0				lung(5)	5						c.(295-297)CTC>CTA		vascular endothelial growth factor C							157.0	144.0	148.0					4																	177650751		1910	4124	6034	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650751G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.297C>A	4.37:g.177650751G>T							p.L99L	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	727	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	99					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.297C>A	CCDS43285.1																																																																																				0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		13	25	1	0	4.3838e-07	0.001855	4.96219e-07	13	25				
AGA	175	broad.mit.edu	37	4	178354388	178354388	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:178354388G>A	ENST00000264595.2	-	8	1047	c.920C>T	c.(919-921)gCc>gTc	p.A307V	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	307					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTCACATTGGCACATATAAC	0.343																																							uc003iuu.1		NA																	0					0						c.(919-921)GCC>GTC		aspartylglucosaminidase precursor							166.0	166.0	166.0					4																	178354388		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178354388G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.920C>T	4.37:g.178354388G>A	ENSP00000264595:p.Ala307Val					AGA_uc010irt.1_Intron	p.A307V	NM_000027	NP_000018	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	8	982	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	307					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.920C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586848	0.28268	.	.	ENSG00000038002	ENST00000264595	D	0.86030	-2.06	5.98	5.98	0.97165	.	0.099989	0.64402	D	0.000001	T	0.74068	0.3668	N	0.13235	0.315	0.80722	D	1	B	0.09022	0.002	B	0.17433	0.018	T	0.68903	-0.5286	10	0.02654	T	1	-2.216	20.1161	0.97934	0.0:0.0:1.0:0.0	.	307	P20933	ASPG_HUMAN	V	307	ENSP00000264595:A307V	ENSP00000264595:A307V	A	-	2	0	AGA	178591382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.331000	0.96430	2.861000	0.98227	0.650000	0.86243	GCC		0.343	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		16	107	0	0	0	0.006122	0	16	107				
TRAPPC11	60684	broad.mit.edu	37	4	184626132	184626132	+	Splice_Site	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:184626132G>C	ENST00000334690.6	+	27	3166	c.2964G>C	c.(2962-2964)agG>agC	p.R988S	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Splice_Site_p.R988S|TRAPPC11_ENST00000512476.1_Splice_Site_p.R594S	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	988					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TCTGCCACAGGACCTCAGCAA	0.408																																							uc003ivx.2		NA																	0					0						c.(2962-2964)AGG>AGC		hypothetical protein LOC60684 isoform a							168.0	157.0	161.0					4																	184626132		2203	4300	6503	SO:0001630	splice_region_variant	60684							g.chr4:184626132G>C		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2964-1G>C	4.37:g.184626132G>C						C4orf41_uc003ivw.2_Missense_Mutation_p.R988S|C4orf41_uc010isc.2_Missense_Mutation_p.R332S|C4orf41_uc003ivy.2_Missense_Mutation_p.R594S	p.R988S	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	27	3140	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	988					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.2964G>C	CCDS34112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.31|13.31	2.200420|2.200420	0.38905|0.38905	.|.	.|.	ENSG00000168538|ENSG00000168538	ENST00000360109|ENST00000334690;ENST00000357207;ENST00000512476	.|.	.|.	.|.	4.94|4.94	4.09|4.09	0.47781|0.47781	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70996|0.70996	0.3288|0.3288	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.99	.|D;D;D;P	.|0.91635	.|0.946;0.998;0.999;0.791	T|T	0.70350|0.70350	-0.4896|-0.4896	5|8	.|.	.|.	.|.	.|.	10.5034|10.5034	0.44819|0.44819	0.1724:0.0:0.8276:0.0|0.1724:0.0:0.8276:0.0	.|.	.|719;594;988;988	.|B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.|.;.;TPC11_HUMAN;.	H|S	969|988;988;594	.|.	.|.	D|R	+|+	1|3	0|2	C4orf41|C4orf41	184863126|184863126	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.141000|0.141000	0.21300|0.21300	1.870000|1.870000	0.39529|0.39529	1.063000|1.063000	0.40649|0.40649	0.563000|0.563000	0.77884|0.77884	GAC|AGG		0.408	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	Missense_Mutation	7	111	0	0	0	0.004482	0	7	111				
FRG1	2483	broad.mit.edu	37	4	190876261	190876261	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:190876261A>C	ENST00000226798.4	+	5	609	c.387A>C	c.(385-387)tcA>tcC	p.S129S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	129					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTGGGCGTTCAGATGCAATTG	0.348																																							uc003izs.2		NA																	0					0						c.(385-387)TCA>TCC		FSHD region gene 1							92.0	92.0	92.0					4																	190876261		2203	4300	6503	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876261A>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.387A>C	4.37:g.190876261A>C							p.S129S	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	578	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	129					A8K775	Silent	SNP	ENST00000226798.4	37	c.387A>C	CCDS34121.1																																																																																				0.348	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	169	0	0	0	0.000978	0	8	169				
TPPP	11076	broad.mit.edu	37	5	666182	666182	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:666182A>T	ENST00000360578.5	-	3	489	c.368T>A	c.(367-369)cTc>cAc	p.L123H	CEP72_ENST00000514507.1_3'UTR|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	123					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CTTCTTGGCGAGCTCCTCCAG	0.642																																							uc003jbg.3		NA																	0					0						c.(367-369)CTC>CAC		tubulin polymerization promoting protein							94.0	85.0	88.0					5																	666182		2203	4300	6503	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:666182A>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.368T>A	5.37:g.666182A>T	ENSP00000353785:p.Leu123His					TPPP_uc003jbh.3_Missense_Mutation_p.L123H	p.L123H	NM_007030	NP_008961	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	1086	-		Ovarian(839;0.0563)	123						Missense_Mutation	SNP	ENST00000360578.5	37	c.368T>A	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	a	14.87	2.664152	0.47572	.	.	ENSG00000171368	ENST00000360578	T	0.52295	0.67	4.54	3.35	0.38373	EF-hand-like domain (1);	0.147596	0.47093	D	0.000242	T	0.71643	0.3364	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75684	-0.3232	10	0.87932	D	0	-32.0388	11.2203	0.48851	0.846:0.154:0.0:0.0	.	123	O94811	TPPP_HUMAN	H	123	ENSP00000353785:L123H	ENSP00000353785:L123H	L	-	2	0	TPPP	719182	1.000000	0.71417	0.627000	0.29227	0.006000	0.05464	8.448000	0.90335	0.689000	0.31550	-0.501000	0.04562	CTC		0.642	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		14	67	0	0	0	0.003163	0	14	67				
IRX4	50805	broad.mit.edu	37	5	1879636	1879636	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:1879636T>C	ENST00000505790.1	-	5	1174	c.718A>G	c.(718-720)Aag>Gag	p.K240E	IRX4_ENST00000231357.2_Missense_Mutation_p.K240E|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.K240E	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	240					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTGGAGCTCTTGAGGGGctcc	0.682																																							uc003jcz.2		NA																	0					0						c.(718-720)AAG>GAG		iroquois homeobox 4							30.0	28.0	29.0					5																	1879636		2194	4286	6480	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879636T>C	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.718A>G	5.37:g.1879636T>C	ENSP00000423161:p.Lys240Glu					IRX4_uc011cmf.1_Missense_Mutation_p.K101E	p.K240E	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	837	-			240					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.718A>G	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553661	0.27739	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.65364	-0.15;-0.15;-0.15	4.17	4.17	0.49024	.	0.484337	0.22753	N	0.056043	T	0.56543	0.1992	M	0.65498	2.005	0.53688	D	0.999972	B	0.21520	0.057	B	0.21360	0.034	T	0.52102	-0.8620	10	0.11794	T	0.64	-1.0447	12.3392	0.55085	0.0:0.0:0.0:1.0	.	240	P78413	IRX4_HUMAN	E	240	ENSP00000231357:K240E;ENSP00000423161:K240E;ENSP00000424235:K240E	ENSP00000231357:K240E	K	-	1	0	IRX4	1932636	0.689000	0.27690	0.943000	0.38184	0.017000	0.09413	1.150000	0.31639	1.751000	0.51876	0.379000	0.24179	AAG		0.682	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	37	0	0	0	0.006214	0	9	37				
NSUN2	54888	broad.mit.edu	37	5	6623375	6623375	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:6623375A>T	ENST00000264670.6	-	5	800	c.489T>A	c.(487-489)gcT>gcA	p.A163A	NSUN2_ENST00000506139.1_Silent_p.A128A|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	163					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCATGCTAACAGCTTCTTGAC	0.418																																							uc003jdu.2		NA																	0				ovary(1)	1						c.(487-489)GCT>GCA		NOL1/NOP2/Sun domain family, member 2							126.0	120.0	122.0					5																	6623375		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6623375A>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.489T>A	5.37:g.6623375A>T						NSUN2_uc003jdt.2_5'Flank|NSUN2_uc011cmk.1_Silent_p.A128A|NSUN2_uc003jdv.2_5'UTR	p.A163A	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			5	554	-			163					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.489T>A	CCDS3869.1																																																																																				0.418	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		5	55	0	0	0	0.000602	0	5	55				
ADCY2	108	broad.mit.edu	37	5	7690828	7690828	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:7690828C>T	ENST00000338316.4	+	5	834	c.745C>T	c.(745-747)Ccg>Tcg	p.P249S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P69S|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	249					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTCCCTGCTGCCGGCCCACAT	0.562																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(745-747)CCG>TCG		adenylate cyclase 2							42.0	42.0	42.0					5																	7690828		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7690828C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.745C>T	5.37:g.7690828C>T	ENSP00000342952:p.Pro249Ser					ADCY2_uc011cmo.1_Missense_Mutation_p.P69S	p.P249S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			5	812	+			249			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.745C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	35	5.479801	0.96307	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D	0.91180	-1.69;-2.8	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.88704	2.975	0.58432	D	0.999999	D;P	0.89917	1.0;0.928	D;P	0.97110	1.0;0.696	D	0.96462	0.9342	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	69;249	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	249;100;38;69	ENSP00000342952:P249S;ENSP00000444803:P69S	ENSP00000342952:P249S	P	+	1	0	ADCY2	7743828	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	7.489000	0.81451	2.742000	0.94016	0.650000	0.86243	CCG		0.562	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	24	0	0	0	0.000602	0	5	24				
ROPN1L	83853	broad.mit.edu	37	5	10461362	10461362	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:10461362C>A	ENST00000503804.1	+	5	1005	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.R162S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	162					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGGGCCCGCTCGCATCCCCTT	0.562																																							uc003jex.3		NA																	0				ovary(1)	1						c.(484-486)CGC>AGC		ropporin 1-like							112.0	100.0	104.0					5																	10461362		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461362C>A	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.484C>A	5.37:g.10461362C>A	ENSP00000421405:p.Arg162Ser						p.R162S	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			4	755	+			162					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.484C>A	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597404	0.46318	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.19806	2.12;2.12	4.9	4.9	0.64082	.	0.054165	0.64402	D	0.000001	T	0.43299	0.1241	M	0.66439	2.03	0.48975	D	0.99973	D	0.76494	0.999	D	0.69479	0.964	T	0.28235	-1.0050	10	0.46703	T	0.11	-15.0589	15.0095	0.71539	0.0:1.0:0.0:0.0	.	162	Q96C74	ROP1L_HUMAN	S	162	ENSP00000421405:R162S;ENSP00000274134:R162S	ENSP00000274134:R162S	R	+	1	0	ROPN1L	10514362	0.977000	0.34250	0.327000	0.25402	0.072000	0.16883	2.456000	0.44997	2.261000	0.74972	0.563000	0.77884	CGC		0.562	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		58	69	1	0	5.99346e-17	0.00361	7.5848e-17	58	69				
ANKH	56172	broad.mit.edu	37	5	14749341	14749341	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:14749341A>G	ENST00000284268.6	-	6	1092	c.762T>C	c.(760-762)agT>agC	p.S254S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.S56S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	254					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAATAGGCCGACTGATTCTCT	0.493																																							uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(760-762)AGT>AGC		progressive ankylosis protein							115.0	116.0	115.0					5																	14749341		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14749341A>G	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.762T>C	5.37:g.14749341A>G							p.S254S	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			6	1093	-			254			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.762T>C	CCDS3885.1																																																																																				0.493	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		5	93	0	0	0	0.000602	0	5	93				
PRDM9	56979	broad.mit.edu	37	5	23527517	23527517	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:23527517A>G	ENST00000296682.3	+	11	2502	c.2320A>G	c.(2320-2322)Aag>Gag	p.K774E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	774					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACAGGGGAGAAGCCCTATGT	0.577										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2320-2322)AAG>GAG		PR domain containing 9							66.0	74.0	72.0					5																	23527517		2187	4292	6479	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527517A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2320A>G	5.37:g.23527517A>G	ENSP00000296682:p.Lys774Glu	HNSCC(3;0.000094)					p.K774E	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2502	+			774					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2320A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.962086	0.53400	.	.	ENSG00000164256	ENST00000296682	T	0.27104	1.69	2.95	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46308	0.1386	M	0.72118	2.19	0.39728	D	0.971561	D	0.89917	1.0	D	0.83275	0.996	T	0.50849	-0.8779	9	0.87932	D	0	.	9.5938	0.39563	1.0:0.0:0.0:0.0	.	774	Q9NQV7	PRDM9_HUMAN	E	774	ENSP00000296682:K774E	ENSP00000296682:K774E	K	+	1	0	PRDM9	23563274	0.995000	0.38212	1.000000	0.80357	0.275000	0.26752	1.482000	0.35486	1.593000	0.50029	0.397000	0.26171	AAG		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		9	166	0	0	0	0.008291	0	9	166				
CDH10	1008	broad.mit.edu	37	5	24505254	24505254	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:24505254A>G	ENST00000264463.4	-	8	1867	c.1360T>C	c.(1360-1362)Tgg>Cgg	p.W454R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATTATGCCACTGAGATAGT	0.318										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1360-1362)TGG>CGG		cadherin 10, type 2 preproprotein							93.0	89.0	91.0					5																	24505254		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505254A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1360T>C	5.37:g.24505254A>G	ENSP00000264463:p.Trp454Arg	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.W454R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1692	-			454			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1360T>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197425	0.79015	.	.	ENSG00000040731	ENST00000264463	T	0.49432	0.78	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.55990	1.75	0.53688	D	0.999976	P	0.43607	0.812	P	0.50270	0.636	T	0.59963	-0.7355	10	0.87932	D	0	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	454	Q9Y6N8	CAD10_HUMAN	R	454	ENSP00000264463:W454R	ENSP00000264463:W454R	W	-	1	0	CDH10	24541011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.896000	0.92521	2.102000	0.63906	0.533000	0.62120	TGG		0.318	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	46	0	0	0	0.001168	0	6	46				
ADAMTS12	81792	broad.mit.edu	37	5	33561216	33561216	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:33561216G>C	ENST00000504830.1	-	20	4376	c.4041C>G	c.(4039-4041)gaC>gaG	p.D1347E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1262E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1347	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGCCGCACAGTCAGAATCCA	0.572										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4039-4041)GAC>GAG		ADAM metallopeptidase with thrombospondin type 1							119.0	104.0	109.0					5																	33561216		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561216G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4041C>G	5.37:g.33561216G>C	ENSP00000422554:p.Asp1347Glu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1262E	p.D1347E	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4204	-			1347			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4041C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388106	0.42308	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53206	0.63;0.63	5.4	1.61	0.23674	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.43701	1.375	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69654	0.941;0.965	T	0.53521	-0.8427	10	0.54805	T	0.06	.	9.9546	0.41660	0.2805:0.0:0.7195:0.0	.	1262;1347	P58397-3;P58397	.;ATS12_HUMAN	E	1347;1262	ENSP00000422554:D1347E;ENSP00000344847:D1262E	ENSP00000344847:D1262E	D	-	3	2	ADAMTS12	33596973	1.000000	0.71417	0.950000	0.38849	0.031000	0.12232	2.413000	0.44618	0.657000	0.30906	-0.145000	0.13849	GAC		0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	55	0	0	0	0.008871	0	21	55				
RANBP3L	202151	broad.mit.edu	37	5	36249757	36249757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:36249757C>A	ENST00000296604.3	-	14	1882	c.1397G>T	c.(1396-1398)tGa>tTa	p.*466L	RANBP3L_ENST00000502994.1_Nonstop_Mutation_p.*491L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	0					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGGTAGTATTCATGAACAGGC	0.323																																							uc003jkh.2		NA																	0				ovary(1)	1						c.(1396-1398)TGA>TTA		RAN binding protein 3-like isoform 2							139.0	135.0	136.0					5																	36249757		2203	4300	6503	SO:0001578	stop_lost	202151				intracellular transport			g.chr5:36249757C>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1397G>T	5.37:g.36249757C>A						RANBP3L_uc011cow.1_Nonstop_Mutation_p.*491L	p.*466L	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		14	1890	-	all_lung(31;4.52e-05)		466					B7Z866|E9PGP9|Q96LK2	Nonstop_Mutation	SNP	ENST00000296604.3	37	c.1397G>T	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629624	0.46944	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	.	.	.	5.42	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3668	0.21459	0.0:0.5259:0.0:0.4741	.	.	.	.	L	466;491	.	.	X	-	2	2	RANBP3L	36285514	0.849000	0.29639	0.867000	0.34043	0.968000	0.65278	0.063000	0.14410	0.292000	0.22492	0.650000	0.86243	TGA		0.323	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		18	65	1	0	1.1804e-14	0.003954	1.47431e-14	18	65				
GDNF	2668	broad.mit.edu	37	5	37816117	37816117	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:37816117C>A	ENST00000326524.2	-	3	471	c.272G>T	c.(271-273)cGg>cTg	p.R91L	GDNF_ENST00000515058.1_Missense_Mutation_p.R65L|GDNF_ENST00000381826.4_Missense_Mutation_p.R82L|GDNF_ENST00000427982.1_Missense_Mutation_p.R108L|GDNF_ENST00000344622.4_Missense_Mutation_p.R65L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	91					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CTGCCGATTCCGCTCTCTTCT	0.478																																							uc011cpi.1		NA																	0					0						c.(271-273)CGG>CTG		glial cell derived neurotrophic factor isoform 1							85.0	92.0	90.0					5																	37816117		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816117C>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.272G>T	5.37:g.37816117C>A	ENSP00000317145:p.Arg91Leu					GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.R39L|GDNF_uc011cpe.1_Missense_Mutation_p.R65L|GDNF_uc011cpf.1_Missense_Mutation_p.R65L|GDNF_uc011cpg.1_Missense_Mutation_p.R108L|GDNF_uc011cph.1_Missense_Mutation_p.R82L	p.R91L	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	472	-	all_lung(31;0.00118)		91					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.272G>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980326	0.74474	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.94931	-3.53;-3.46;-3.46;-3.56;-3.48	5.9	5.9	0.94986	Transforming growth factor-beta, C-terminal (1);	0.047406	0.85682	D	0.000000	D	0.97161	0.9072	M	0.74258	2.255	0.53688	D	0.999971	D;D;D;D	0.89917	1.0;0.998;1.0;0.959	D;D;D;P	0.80764	0.931;0.994;0.977;0.668	D	0.96321	0.9236	10	0.45353	T	0.12	-11.5164	20.2822	0.98520	0.0:1.0:0.0:0.0	.	91;82;108;65	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	L	91;65;65;108;82	ENSP00000317145:R91L;ENSP00000339703:R65L;ENSP00000425928:R65L;ENSP00000409007:R108L;ENSP00000371248:R82L	ENSP00000317145:R91L	R	-	2	0	GDNF	37851874	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.668000	0.68074	2.806000	0.96561	0.655000	0.94253	CGG		0.478	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		7	77	1	0	0.00307968	0.00308	0.0032006	7	77				
RICTOR	253260	broad.mit.edu	37	5	38950335	38950335	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:38950335T>C	ENST00000357387.3	-	31	3645	c.3615A>G	c.(3613-3615)gtA>gtG	p.V1205V	RICTOR_ENST00000296782.5_Silent_p.V1205V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGAACTTTCTACTACTAACC	0.393																																							uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3613-3615)GTA>GTG		rapamycin-insensitive companion of mTOR							202.0	201.0	201.0					5																	38950335		2202	4298	6500	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950335T>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3615A>G	5.37:g.38950335T>C						RICTOR_uc003jlo.2_Silent_p.V1205V|RICTOR_uc010ivf.2_Silent_p.V920V	p.V1205V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			31	3639	-	all_lung(31;0.000396)		1205						Silent	SNP	ENST00000357387.3	37	c.3615A>G	CCDS34148.1																																																																																				0.393	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		53	160	0	0	0	0.00361	0	53	160				
C5orf34	375444	broad.mit.edu	37	5	43490815	43490815	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:43490815T>C	ENST00000306862.2	-	11	1972	c.1597A>G	c.(1597-1599)Aca>Gca	p.T533A	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	533										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CACCATGATGTTACTGTTGTC	0.313																																							uc003jnz.1		NA																	0				breast(1)	1						c.(1597-1599)ACA>GCA		hypothetical protein LOC375444							83.0	79.0	80.0					5																	43490815		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43490815T>C	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1597A>G	5.37:g.43490815T>C	ENSP00000303490:p.Thr533Ala						p.T533A	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			12	1914	-	Lung NSC(6;2.07e-05)		533						Missense_Mutation	SNP	ENST00000306862.2	37	c.1597A>G	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278877	0.40294	.	.	ENSG00000172244	ENST00000306862	T	0.42131	0.98	5.35	1.48	0.22813	.	0.599365	0.17911	N	0.157831	T	0.21962	0.0529	N	0.08118	0	0.19775	N	0.999957	B	0.15930	0.015	B	0.19391	0.025	T	0.21280	-1.0250	10	0.59425	D	0.04	-1.4164	8.3557	0.32329	0.0:0.2486:0.0:0.7514	.	533	Q96MH7	CE034_HUMAN	A	533	ENSP00000303490:T533A	ENSP00000303490:T533A	T	-	1	0	C5orf34	43526572	0.989000	0.36119	0.704000	0.30370	0.985000	0.73830	0.450000	0.21762	0.385000	0.24970	0.477000	0.44152	ACA		0.313	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		14	21	0	0	0	0.003163	0	14	21				
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:45267329G>T	ENST00000303230.4	-	7	1702	c.1645C>A	c.(1645-1647)Cgt>Agt	p.R549S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408																																							uc003jok.2		NA																	0				ovary(1)	1						c.(1645-1647)CGT>AGT		hyperpolarization activated cyclic							120.0	110.0	114.0					5																	45267329		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267329G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1645C>A	5.37:g.45267329G>T	ENSP00000307342:p.Arg549Ser						p.R549S	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1670	-			549			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1645C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659867	0.88154	.	.	ENSG00000164588	ENST00000303230	D	0.97850	-4.57	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000004	D	0.99061	0.9678	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99301	1.0901	10	0.87932	D	0	.	15.061	0.71955	0.0:0.0:0.8581:0.1419	.	549	O60741	HCN1_HUMAN	S	549	ENSP00000307342:R549S	ENSP00000307342:R549S	R	-	1	0	HCN1	45303086	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	4.327000	0.59247	2.813000	0.96785	0.655000	0.94253	CGT		0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		20	66	1	0	1.01871e-10	0.008871	1.22324e-10	20	66				
DHX29	54505	broad.mit.edu	37	5	54563598	54563598	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:54563598C>A	ENST00000251636.5	-	22	3495	c.3347G>T	c.(3346-3348)gGt>gTt	p.G1116V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1116						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATCTTTTCGACCAATTGGTGT	0.383																																							uc003jpx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3346-3348)GGT>GTT		DEAH (Asp-Glu-Ala-His) box polypeptide 29							139.0	118.0	125.0					5																	54563598		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54563598C>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3347G>T	5.37:g.54563598C>A	ENSP00000251636:p.Gly1116Val					DHX29_uc010ivw.2_RNA	p.G1116V	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			22	3467	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1116					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3347G>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313225	0.81358	.	.	ENSG00000067248	ENST00000251636	T	0.02812	4.15	5.68	5.68	0.88126	Helicase-associated domain (2);	0.087364	0.85682	D	0.000000	T	0.16300	0.0392	M	0.83223	2.63	0.80722	D	1	D	0.63046	0.992	P	0.59546	0.859	T	0.00073	-1.2127	10	0.87932	D	0	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1116	Q7Z478	DHX29_HUMAN	V	1116	ENSP00000251636:G1116V	ENSP00000251636:G1116V	G	-	2	0	DHX29	54599355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.004000	0.57068	2.695000	0.91970	0.650000	0.86243	GGT		0.383	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		13	36	1	0	2.68362e-12	0.001368	3.28585e-12	13	36				
MAP3K1	4214	broad.mit.edu	37	5	56171006	56171006	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:56171006A>T	ENST00000399503.3	+	10	1834	c.1834A>T	c.(1834-1836)Agc>Tgc	p.S612C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	612					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGCAGTGGAAGCAGCCCGAG	0.587																																							uc003jqw.3		NA																	0				ovary(1)|skin(1)	2						c.(1834-1836)AGC>TGC		mitogen-activated protein kinase kinase kinase							60.0	65.0	63.0					5																	56171006		1974	4157	6131	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56171006A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1834A>T	5.37:g.56171006A>T	ENSP00000382423:p.Ser612Cys						p.S612C	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	2335	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	612						Missense_Mutation	SNP	ENST00000399503.3	37	c.1834A>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640158	0.47153	.	.	ENSG00000095015	ENST00000399503	T	0.67698	-0.28	5.79	4.43	0.53597	.	0.251616	0.41396	D	0.000883	T	0.47322	0.1439	N	0.14661	0.345	0.27804	N	0.942385	P	0.44344	0.833	B	0.39185	0.293	T	0.44847	-0.9301	10	0.59425	D	0.04	.	9.7419	0.40424	0.8961:0.0:0.1038:0.0	.	612	Q13233	M3K1_HUMAN	C	612	ENSP00000382423:S612C	ENSP00000382423:S612C	S	+	1	0	MAP3K1	56206763	1.000000	0.71417	0.740000	0.30986	0.752000	0.42762	3.837000	0.55820	0.817000	0.34445	0.533000	0.62120	AGC		0.587	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		12	47	0	0	0	0.000978	0	12	47				
HTR1A	3350	broad.mit.edu	37	5	63256362	63256362	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:63256362A>G	ENST00000323865.3	-	1	1418	c.1185T>C	c.(1183-1185)ctT>ctC	p.L395L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	395					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGACGGGGTTAAGCAGAGAGT	0.507																																							uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(1183-1185)CTT>CTC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						192.0	200.0	198.0					5																	63256362		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256362A>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1185T>C	5.37:g.63256362A>G							p.L395L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1185	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	395			Helical; Name=7; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1185T>C	CCDS34168.1																																																																																				0.507	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		44	171	0	0	0	0.00361	0	44	171				
ADAMTS6	11174	broad.mit.edu	37	5	64556443	64556443	+	IGR	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:64556443C>T								ADAMTS6 (61851 upstream) : ADAMTS6 (36591 downstream)																							GTTACAGGAGCGATACCGTTT	0.328																																							uc003jtp.2		NA																	0					0						c.(1813-1815)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							81.0	81.0	81.0					5																	64556443		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64556443C>T																													5.37:g.64556443C>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R226H	p.R605H	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	14	2628	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	605			TSP type-1 1.			Missense_Mutation	SNP		37	c.1814G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.202618	0.94997	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.55930	0.49;0.49	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.87547	2.89	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58820	0.749;0.846	T	0.78785	-0.2068	10	0.87932	D	0	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	605;605	D6R9L6;Q9UKP5	.;ATS6_HUMAN	H	605;555;605	ENSP00000370443:R605H;ENSP00000423551:R605H	ENSP00000261306:R555H	R	-	2	0	ADAMTS6	64592199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.333000	0.79214	2.814000	0.96858	0.650000	0.86243	CGC	0	0.328									8	47	0	0	0	0.004482	0	8	47				
MRPS27	23107	broad.mit.edu	37	5	71593460	71593460	+	Splice_Site	SNP	C	C	T	rs527783712		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:71593460C>T	ENST00000261413.5	-	3	260	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	MRPS27_ENST00000515404.1_Splice_Site_p.R18Q|MRPS27_ENST00000457646.4_Splice_Site_p.R18Q|MRPS27_ENST00000513900.1_Splice_Site_p.R74Q|MRPS27_ENST00000522095.1_Splice_Site_p.R74Q	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	74						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTTTCTTACCCGTGATATTGT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		13023	0.0		0.0	False		,,,				2504	0.001						uc003kbz.3		NA																	0					0						c.(220-222)CGG>CAG		mitochondrial ribosomal protein S27							33.0	34.0	34.0					5																	71593460		2200	4284	6484	SO:0001630	splice_region_variant	23107					mitochondrion|ribosome		g.chr5:71593460C>T	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.222+1G>A	5.37:g.71593460C>T						MRPS27_uc003kca.3_Missense_Mutation_p.R18Q|MRPS27_uc011cse.1_Missense_Mutation_p.R74Q|MRPS27_uc010iza.2_Missense_Mutation_p.R18Q	p.R74Q	NM_015084	NP_055899	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	3	257	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	74					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.221G>A	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959625	0.53400	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404;ENST00000522095	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.72894	2.215	0.51482	D	0.999928	D;B;D	0.89917	1.0;0.44;1.0	D;B;D	0.87578	0.998;0.106;0.997	T	0.61549	-0.7040	10	0.25106	T	0.35	-20.3546	15.404	0.74863	0.0:1.0:0.0:0.0	.	74;18;74	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	Q	74;18;74;18;18;74	ENSP00000261413:R74Q;ENSP00000428120:R18Q;ENSP00000426941:R74Q;ENSP00000426176:R18Q;ENSP00000427237:R18Q;ENSP00000430590:R74Q	ENSP00000261413:R74Q	R	-	2	0	MRPS27	71629216	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.572000	0.67411	2.609000	0.88269	0.563000	0.77884	CGG		0.318	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084	Missense_Mutation	5	22	0	0	0	0.001168	0	5	22				
ZNF366	167465	broad.mit.edu	37	5	71756480	71756480	+	Missense_Mutation	SNP	C	C	A	rs370385805		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:71756480C>A	ENST00000318442.5	-	2	1334	c.844G>T	c.(844-846)Gcg>Tcg	p.A282S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	282					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCGTGCACGCGTGCGGCTTG	0.637																																							uc003kce.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(844-846)GCG>TCG		zinc finger protein 366							126.0	116.0	120.0					5																	71756480		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756480C>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.844G>T	5.37:g.71756480C>A	ENSP00000313158:p.Ala282Ser						p.A282S	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1030	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	282			C2H2-type 2.		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.844G>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393456	0.83011	.	.	ENSG00000178175	ENST00000318442	T	0.78003	-1.14	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.75576	0.3868	N	0.03000	-0.44	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.79741	-0.1676	10	0.34782	T	0.22	-36.9953	20.3633	0.98874	0.0:1.0:0.0:0.0	.	282	Q8N895	ZN366_HUMAN	S	282	ENSP00000313158:A282S	ENSP00000313158:A282S	A	-	1	0	ZNF366	71792236	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.929000	0.63455	2.826000	0.97356	0.561000	0.74099	GCG		0.637	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			21	94	1	0	1.85244e-09	0.00333	2.18845e-09	21	94				
AGGF1	55109	broad.mit.edu	37	5	76326698	76326698	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:76326698T>C	ENST00000312916.7	+	1	489	c.107T>C	c.(106-108)cTg>cCg	p.L36P	AGGF1_ENST00000506806.1_Missense_Mutation_p.L36P|AGGF1_ENST00000503538.1_Intron	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	36					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAACGTGAACTGCGGAGCTGC	0.667																																							uc003ket.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(106-108)CTG>CCG		angiogenic factor VG5Q							60.0	57.0	58.0					5																	76326698		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76326698T>C	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.107T>C	5.37:g.76326698T>C	ENSP00000316109:p.Leu36Pro					AGGF1_uc003kes.2_Missense_Mutation_p.L36P|AGGF1_uc003keu.1_Intron	p.L36P	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	1	467	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	36			Potential.		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.107T>C	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238128	0.79800	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;D	0.81579	0.36;-1.51	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000009	D	0.86314	0.5903	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.86928	0.2071	10	0.87932	D	0	-9.3062	9.5722	0.39436	0.0:0.0:0.0:1.0	.	36;36	Q8N302;Q8N302-3	AGGF1_HUMAN;.	P	36	ENSP00000316109:L36P;ENSP00000424733:L36P	ENSP00000316109:L36P	L	+	2	0	AGGF1	76362454	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.815000	0.69215	1.832000	0.53329	0.454000	0.30748	CTG		0.667	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		10	31	0	0	0	0.001855	0	10	31				
ARSB	411	broad.mit.edu	37	5	78181601	78181601	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:78181601T>A	ENST00000264914.4	-	5	1484	c.948A>T	c.(946-948)ggA>ggT	p.G316G	ARSB_ENST00000396151.3_Silent_p.G316G|ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000565165.1_Silent_p.G316G	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	316					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCCATTTTCTTCCTCGAAGGG	0.532																																					Melanoma(169;563 1968 25780 26156 52266)	Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(946-948)GGA>GGT		arylsulfatase B isoform 1 precursor							95.0	100.0	98.0					5																	78181601		2203	4300	6503	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78181601T>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.948A>T	5.37:g.78181601T>A						ARSB_uc003kfr.3_Silent_p.G316G	p.G316G	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	5	2234	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	316					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.948A>T	CCDS4043.1																																																																																				0.532	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		41	96	0	0	0	0.00874	0	41	96				
RASGRF2	5924	broad.mit.edu	37	5	80497209	80497209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:80497209C>T	ENST00000265080.4	+	19	2921	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R952*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTTTTGCGAGACCCAGA	0.403																																							uc003kha.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2854-2856)CGA>TGA		Ras protein-specific guanine							73.0	83.0	80.0					5																	80497209		2203	4300	6503	SO:0001587	stop_gained	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80497209C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2854C>T	5.37:g.80497209C>T	ENSP00000265080:p.Arg952*					RASGRF2_uc011ctn.1_RNA	p.R952*	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	19	2854	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	952					B9EG89|Q9UK56	Nonsense_Mutation	SNP	ENST00000265080.4	37	c.2854C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420475	0.98803	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.89	3.91	0.45181	.	0.275269	0.34932	N	0.003566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9024	0.70689	0.312:0.688:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265080:R952X	R	+	1	2	RASGRF2	80532965	0.502000	0.26107	0.996000	0.52242	0.985000	0.73830	0.688000	0.25422	1.463000	0.47967	0.561000	0.74099	CGA		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		22	80	0	0	0	0.004656	0	22	80				
EDIL3	10085	broad.mit.edu	37	5	83680311	83680311	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:83680311G>A	ENST00000296591.5	-	0	300				EDIL3_ENST00000380138.3_5'Flank|CTD-2269F5.1_ENST00000509406.1_RNA|CTD-2269F5.1_ENST00000502253.1_RNA|CTD-2269F5.1_ENST00000514696.1_RNA|CTD-2269F5.1_ENST00000515688.1_RNA|CTD-2269F5.1_ENST00000507060.1_RNA	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCAAGAAGACGTTCTCTTTCC	0.587																																							uc003kio.1		NA																	0				skin(2)	2						c.(-120--116)AACGT>AATGT		EGF-like repeats and discoidin I-like																																						10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83680311G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047		5.37:g.83680311G>A						EDIL3_uc003kip.1_Translation_Start_Site		NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	1	301	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)						B2R763|O43855|Q5D094|Q8N610	Translation_Start_Site	SNP	ENST00000296591.5	37	c.-118C>T	CCDS4062.1																																																																																				0.587	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		5	9	0	0	0	0.000602	0	5	9				
NR2F1	7025	broad.mit.edu	37	5	92923832	92923832	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:92923832C>T	ENST00000327111.3	+	2	2360	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	225					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R225C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGGCCGCGCGCCTGCTCTT	0.657																																							uc003kkj.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	urinary_tract(1)|ovary(1)|lung(1)	3						c.(673-675)CGC>TGC		nuclear receptor subfamily 2, group F, member 1							75.0	74.0	74.0					5																	92923832		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923832C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.673C>T	5.37:g.92923832C>T	ENSP00000325819:p.Arg225Cys						p.R225C	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2360	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	225						Missense_Mutation	SNP	ENST00000327111.3	37	c.673C>T	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608322	0.87258	.	.	ENSG00000175745	ENST00000327111	D	0.97256	-4.31	4.47	4.47	0.54385	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.87932	D	0	.	17.3064	0.87196	0.0:1.0:0.0:0.0	.	225	P10589	COT1_HUMAN	C	225	ENSP00000325819:R225C	ENSP00000325819:R225C	R	+	1	0	NR2F1	92949588	0.999000	0.42202	1.000000	0.80357	0.578000	0.36192	2.466000	0.45084	2.292000	0.77174	0.407000	0.27541	CGC		0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		22	55	0	0	0	0.001882	0	22	55				
CAMK4	814	broad.mit.edu	37	5	110560255	110560256	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:110560255_110560256CC>AA	ENST00000282356.4	+	1	472_473	c.74_75CC>AA	c.(73-75)aCC>aAA	p.T25K	CAMK4_ENST00000512453.1_Missense_Mutation_p.T25K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	25					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCCCCGGGGACCGCGAGCCTCG	0.673																																							uc011cvj.1		NA																	0				ovary(3)|lung(2)	5						c.(73-75)ACC>AAA		calcium/calmodulin-dependent protein kinase IV																																				SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110560255_110560256CC>AA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	Exception_encountered	5.37:g.110560255_110560256delinsAA	ENSP00000282356:p.Thr25Lys					CAMK4_uc003kpf.2_Missense_Mutation_p.T25K|CAMK4_uc010jbv.2_5'UTR	p.T25K	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	2	173_174	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	25					D3DSZ7	Missense_Mutation	DNP	ENST00000282356.4	37	c.74_75CC>AA	CCDS4103.1																																																																																				0.673	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		5	11	0	0	0	0.004672	0	5	11				
YTHDC2	64848	broad.mit.edu	37	5	112915284	112915285	+	Splice_Site	DNP	GG	GG	TT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:112915284_112915285GG>TT	ENST00000161863.4	+	24	3459_3460	c.3246_3247GG>TT	c.(3244-3249)gtGGat>gtTTat	p.D1083Y		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1083					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTGGACAGTGGATGGCATTCC	0.376																																							uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(3244-3249)GTGGAT>GTTTAT		YTH domain containing 2																																				SO:0001630	splice_region_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112915284_112915285GG>TT	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	Exception_encountered	5.37:g.112915284_112915285delinsTT							p.D1083Y	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	24	3429_3430	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1083					B2RP66	Missense_Mutation	DNP	ENST00000161863.4	37	c.3246_3247GG>TT	CCDS4113.1																																																																																				0.376	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	Missense_Mutation	16	81	0	0	0	0.004672	0	16	81				
PRR16	51334	broad.mit.edu	37	5	120022249	120022249	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:120022249A>T	ENST00000407149.2	+	2	969	c.760A>T	c.(760-762)Aca>Tca	p.T254S	PRR16_ENST00000379551.2_Missense_Mutation_p.T231S|PRR16_ENST00000505123.1_Missense_Mutation_p.T184S|PRR16_ENST00000446965.1_Missense_Mutation_p.T184S			Q569H4	LARGN_HUMAN	proline rich 16	254	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTCCCTCCTACACCCCATCT	0.537																																							uc003ksq.2		NA																	0				pancreas(2)|ovary(1)	3						c.(760-762)ACA>TCA		proline rich 16							81.0	75.0	77.0					5																	120022249		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022249A>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.760A>T	5.37:g.120022249A>T	ENSP00000385118:p.Thr254Ser					PRR16_uc003ksp.2_Missense_Mutation_p.T231S|PRR16_uc003ksr.2_Missense_Mutation_p.T184S	p.T254S	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	923	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	254			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.760A>T		.	.	.	.	.	.	.	.	.	.	A	8.008	0.756965	0.15846	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.26	3.49	0.39957	.	0.076926	0.52532	D	0.000074	T	0.19604	0.0471	N	0.08118	0	0.20074	N	0.999932	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.19160	-1.0314	9	.	.	.	-1.2528	7.7233	0.28744	0.1629:0.7534:0.0:0.0837	.	254;231	Q569H4;Q569H4-3	PRR16_HUMAN;.	S	254;231;184;184	ENSP00000385118:T254S;ENSP00000368869:T231S;ENSP00000423446:T184S;ENSP00000405491:T184S	.	T	+	1	0	PRR16	120050148	0.830000	0.29337	0.276000	0.24689	0.468000	0.32798	2.330000	0.43885	0.619000	0.30197	-0.138000	0.14375	ACA		0.537	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		12	41	0	0	0	0.001368	0	12	41				
FTMT	94033	broad.mit.edu	37	5	121187760	121187760	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:121187760G>T	ENST00000321339.1	+	1	111	c.102G>T	c.(100-102)ccG>ccT	p.P34P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	34					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GTTGGGCCCCGGGGCGCCCCT	0.771																																							uc003kss.2		NA																	0				ovary(1)	1						c.(100-102)CCG>CCT		ferritin mitochondrial precursor							7.0	9.0	8.0					5																	121187760		2133	4179	6312	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187760G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.102G>T	5.37:g.121187760G>T							p.P34P	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	111	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	34						Silent	SNP	ENST00000321339.1	37	c.102G>T	CCDS4128.1																																																																																				0.771	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		6	11	1	0	5.9392e-07	0.001168	6.67422e-07	6	11				
LYRM7	90624	broad.mit.edu	37	5	130535268	130535268	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:130535268T>G	ENST00000379380.4	+	5	500	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	LYRM7_ENST00000507584.1_3'UTR|LYRM7_ENST00000510516.1_Missense_Mutation_p.C46G	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	97						mitochondrion (GO:0005739)				upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGCCATATTGTGATGCACC	0.318																																							uc003kvg.1		NA																	0					0						c.(289-291)TGT>GGT		Lyrm7 homolog							69.0	69.0	69.0					5																	130535268		2203	4300	6503	SO:0001583	missense	90624							g.chr5:130535268T>G	BC047079	CCDS4148.1	5q31.1	2013-05-24	2012-10-23	2006-10-17	ENSG00000186687	ENSG00000186687		"""LYR motif containing"""	28072	protein-coding gene	gene with protein product		615831	"""chromosome 5 open reading frame 31"", ""Lyrm7 homolog (mouse)"""	C5orf31		23168492	Standard	NM_181705		Approved	FLJ20796, MZM1L	uc003kvg.1	Q5U5X0	OTTHUMG00000128994	ENST00000379380.4:c.289T>G	5.37:g.130535268T>G	ENSP00000368688:p.Cys97Gly						p.C97G	NM_181705	NP_859056	Q5U5X0	LYRM7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	362	+		all_cancers(142;0.0377)|Breast(839;0.198)	97					A8MPQ9|Q86Y68	Missense_Mutation	SNP	ENST00000379380.4	37	c.289T>G	CCDS4148.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822033	0.32237	.	.	ENSG00000186687	ENST00000379380;ENST00000510516	.	.	.	4.76	4.76	0.60689	.	0.126644	0.53938	D	0.000054	T	0.42494	0.1205	M	0.61703	1.905	0.80722	D	1	P	0.43094	0.799	B	0.35859	0.212	T	0.36792	-0.9733	9	0.10377	T	0.69	-2.8434	10.862	0.46831	0.0:0.0:0.0:1.0	.	97	Q5U5X0	LYRM7_HUMAN	G	97;46	.	ENSP00000368688:C97G	C	+	1	0	LYRM7	130563167	0.999000	0.42202	1.000000	0.80357	0.937000	0.57800	1.426000	0.34870	2.132000	0.65825	0.533000	0.62120	TGT		0.318	LYRM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250983.1	NM_181705		10	46	0	0	0	0.003163	0	10	46				
RAD50	10111	broad.mit.edu	37	5	131923333	131923333	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:131923333A>C	ENST00000265335.6	+	6	1223	c.836A>C	c.(835-837)aAg>aCg	p.K279T	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Missense_Mutation_p.K140T			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	279					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATAGCCGAAAGAAGCAAATG	0.303								Homologous recombination																															uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(835-837)AAG>ACG	Homologous_recombination	RAD50 homolog isoform 1							67.0	71.0	70.0					5																	131923333		2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131923333A>C	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.836A>C	5.37:g.131923333A>C	ENSP00000265335:p.Lys279Thr					RAD50_uc003kxh.2_Missense_Mutation_p.K140T	p.K279T	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1223	+		all_cancers(142;0.0368)|Breast(839;0.198)	279			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.836A>C	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830619	0.71258	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07021	3.32;3.23;3.23	5.77	5.77	0.91146	.	0.043059	0.85682	D	0.000000	T	0.17874	0.0429	M	0.76170	2.325	0.54753	D	0.999981	P	0.37731	0.607	P	0.48141	0.568	T	0.03240	-1.1057	10	0.23302	T	0.38	-5.9588	9.8835	0.41247	0.9207:0.0:0.0793:0.0	.	279	Q92878	RAD50_HUMAN	T	140;279;279	ENSP00000368100:K140T;ENSP00000265335:K279T;ENSP00000400049:K279T	ENSP00000265335:K279T	K	+	2	0	RAD50	131951232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.267000	0.65530	2.187000	0.69744	0.533000	0.62120	AAG		0.303	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		13	43	0	0	0	0.003163	0	13	43				
SEPT8	23176	broad.mit.edu	37	5	132099497	132099497	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:132099497G>A	ENST00000378719.2	-	4	672	c.435C>T	c.(433-435)taC>taT	p.Y145Y	SEPT8_ENST00000458488.2_Silent_p.Y145Y|SEPT8_ENST00000378699.2_Silent_p.Y85Y|SEPT8_ENST00000448933.1_Silent_p.Y85Y|SEPT8_ENST00000378701.1_Silent_p.Y143Y|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378721.4_Silent_p.Y143Y|SEPT8_ENST00000296873.7_Silent_p.Y145Y|SEPT8_ENST00000378706.1_Silent_p.Y145Y	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	145	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTGTCATGGTAGTCGAAGA	0.502											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003kxr.2		NA																	0				ovary(2)	2						c.(433-435)TAC>TAT		septin 8 isoform a							180.0	184.0	182.0					5																	132099497		2017	4194	6211	SO:0001819	synonymous_variant	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099497G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.435C>T	5.37:g.132099497G>A			OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1592	SEPT8_uc003kxs.1_Silent_p.Y145Y|SEPT8_uc003kxu.2_Silent_p.Y145Y|SEPT8_uc011cxi.1_Silent_p.Y143Y|SEPT8_uc003kxv.2_Silent_p.Y143Y|SEPT8_uc003kxt.2_Silent_p.Y85Y	p.Y145Y	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	673	-		all_cancers(142;0.0751)|Breast(839;0.198)	145					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	c.435C>T	CCDS43358.1																																																																																				0.502	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		42	111	0	0	0	0.00874	0	42	111				
DDX46	9879	broad.mit.edu	37	5	134143555	134143555	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:134143555T>C	ENST00000354283.4	+	16	2207	c.2072T>C	c.(2071-2073)gTa>gCa	p.V691A	DDX46_ENST00000452510.2_Missense_Mutation_p.V691A			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	691	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGATTCTTGTAGTAAATTAT	0.408																																					Colon(13;391 453 4901 21675 24897)	Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	0				ovary(1)	1						c.(2071-2073)GTA>GCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							74.0	77.0	76.0					5																	134143555		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134143555T>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2072T>C	5.37:g.134143555T>C	ENSP00000346236:p.Val691Ala					DDX46_uc003kzv.1_RNA	p.V691A	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		16	2240	+			691			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2072T>C	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.033080	0.93575	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.96427	-4.01;-4.01	5.4	5.4	0.78164	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	-17.0518	15.7064	0.77583	0.0:0.0:0.0:1.0	.	691	Q7L014	DDX46_HUMAN	A	691	ENSP00000416534:V691A;ENSP00000346236:V691A	ENSP00000346236:V691A	V	+	2	0	DDX46	134171454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.984000	0.88150	2.171000	0.68590	0.459000	0.35465	GTA		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		10	34	0	0	0	0.008291	0	10	34				
H2AFY	9555	broad.mit.edu	37	5	134724751	134724751	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:134724751G>T	ENST00000511689.1	-	2	626	c.33C>A	c.(31-33)acC>acA	p.T11T	H2AFY_ENST00000510038.1_Silent_p.T11T|H2AFY_ENST00000304332.4_Silent_p.T11T|H2AFY_ENST00000312469.4_Silent_p.T11T|H2AFY_ENST00000423969.2_Silent_p.T11T	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	11	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGACGTCTTGGTGGACTTCT	0.617																																							uc003lam.1		NA																	0					0						c.(31-33)ACC>ACA		H2A histone family, member Y isoform 3							102.0	83.0	89.0					5																	134724751		2203	4300	6503	SO:0001819	synonymous_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134724751G>T	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.33C>A	5.37:g.134724751G>T						H2AFY_uc003lao.1_Silent_p.T11T|H2AFY_uc003lan.1_Silent_p.T11T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.T11T|H2AFY_uc003las.1_Silent_p.T11T|H2AFY_uc003lat.1_Silent_p.T11T	p.T11T	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	243	-			11			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.33C>A	CCDS4185.1																																																																																				0.617	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		7	39	1	0	5.18039e-06	0.00308	5.7182e-06	7	39				
TRPC7	57113	broad.mit.edu	37	5	135692395	135692395	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:135692395A>G	ENST00000513104.1	-	2	963	c.681T>C	c.(679-681)agT>agC	p.S227S	TRPC7_ENST00000355180.3_Silent_p.S227S|TRPC7_ENST00000426057.2_Silent_p.S227S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	227					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTAGGCAGCACTCGCCAGTC	0.552																																							uc003lbn.1		NA																	0					0						c.(676-678)AGT>AGC		transient receptor potential cation channel,							55.0	61.0	59.0					5																	135692395		2147	4248	6395	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692395A>G	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.681T>C	5.37:g.135692395A>G						TRPC7_uc010jef.1_Silent_p.S218S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.S218S|TRPC7_uc010jei.1_Silent_p.S218S|TRPC7_uc010jej.1_5'UTR	p.S226S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	681	-			227			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.678T>C	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	A	9.166	1.020030	0.19433	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	-8.82	0.00810	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70185	-0.4941	4	.	.	.	-13.6214	16.7187	0.85404	0.4395:0.0:0.5605:0.0	.	.	.	.	R	227	.	.	C	-	1	0	TRPC7	135720294	0.316000	0.24580	0.402000	0.26371	0.875000	0.50365	-0.186000	0.09670	-1.716000	0.01387	-0.911000	0.02809	TGC		0.552	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		3	26	0	0	0	0.004672	0	3	26				
SPOCK1	6695	broad.mit.edu	37	5	136324131	136324131	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:136324131T>C	ENST00000394945.1	-	8	1077	c.908A>G	c.(907-909)tAc>tGc	p.Y303C	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.Y303C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	303					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGAAGCAGTAGCACCACTC	0.522																																							uc003lbo.2		NA																	0				ovary(1)	1						c.(907-909)TAC>TGC		sparc/osteonectin, cwcv and kazal-like domains							132.0	130.0	131.0					5																	136324131		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324131T>C	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.908A>G	5.37:g.136324131T>C	ENSP00000378401:p.Tyr303Cys					SPOCK1_uc003lbp.2_Missense_Mutation_p.Y303C	p.Y303C	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1099	-			303					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.908A>G	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390332	0.82902	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80336	-0.1425	10	0.66056	D	0.02	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	303	Q08629	TICN1_HUMAN	C	303	ENSP00000378401:Y303C;ENSP00000282223:Y303C	ENSP00000282223:Y303C	Y	-	2	0	SPOCK1	136352030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.139000	0.71728	2.371000	0.80710	0.533000	0.62120	TAC		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		32	77	0	0	0	0.003755	0	32	77				
PSD2	84249	broad.mit.edu	37	5	139193933	139193933	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:139193933C>A	ENST00000274710.3	+	4	1205	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	334	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R334W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTGGCCCGGCAGCTGGG	0.632																																							uc003leu.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(1000-1002)CGG>AGG		pleckstrin and Sec7 domain containing 2							29.0	27.0	28.0					5																	139193933		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193933C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1000C>A	5.37:g.139193933C>A							p.R334R	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1205	+			334			SEC7.		D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1000C>A	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		11	22	1	0	0.000673444	0.008291	0.000712385	11	22				
PCDHA6	56142	broad.mit.edu	37	5	140209641	140209641	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140209641T>C	ENST00000529310.1	+	1	2079	c.1965T>C	c.(1963-1965)ggT>ggC	p.G655G	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCACGGTGAGCCGGCGC	0.692																																							uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1963-1965)GGT>GGC		protocadherin alpha 6 isoform 1 precursor							37.0	44.0	42.0					5																	140209641		2203	4299	6502	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209641T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1965T>C	5.37:g.140209641T>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G655G	p.G655G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1992	+			655			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1965T>C	CCDS47281.1																																																																																				0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		8	57	0	0	0	0.006214	0	8	57				
PCDHB6	56130	broad.mit.edu	37	5	140530476	140530476	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140530476C>G	ENST00000231136.1	+	1	638	c.638C>G	c.(637-639)gCg>gGg	p.A213G	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A77G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTGATCGCGCTGGATGGC	0.602																																							uc003lir.2		NA																	0				skin(1)	1						c.(637-639)GCG>GGG		protocadherin beta 6 precursor							53.0	57.0	56.0					5																	140530476		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530476C>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.638C>G	5.37:g.140530476C>G	ENSP00000231136:p.Ala213Gly					PCDHB6_uc011dah.1_Missense_Mutation_p.A77G	p.A213G	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	638	+			213			Cadherin 2.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.638C>G	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644061	0.67244	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.80738	-1.41;1.21	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93439	0.7907	H	0.96777	3.88	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.95704	0.8752	9	0.87932	D	0	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	213	Q9Y5E3	PCDB6_HUMAN	G	77;213	ENSP00000438466:A77G;ENSP00000231136:A213G	ENSP00000231136:A213G	A	+	2	0	PCDHB6	140510660	1.000000	0.71417	0.470000	0.27216	0.370000	0.29829	6.039000	0.70972	2.394000	0.81467	0.561000	0.74099	GCG		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		10	58	0	0	0	0.000978	0	10	58				
PCDHB8	56128	broad.mit.edu	37	5	140559312	140559312	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140559312T>A	ENST00000239444.2	+	1	1942	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTACCCGCTGCAGAATGGC	0.721																																							uc011dai.1		NA																	0				skin(4)	4						c.(1696-1698)CTG>CAG		protocadherin beta 8 precursor							16.0	27.0	23.0					5																	140559312		2192	4276	6468	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559312T>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1697T>A	5.37:g.140559312T>A	ENSP00000239444:p.Leu566Gln					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.L566Q	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1883	+			566			Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1697T>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.539307	0.27475	.	.	ENSG00000120322	ENST00000239444	T	0.61510	0.1	4.22	3.04	0.35103	Cadherin-like (1);	.	.	.	.	T	0.58850	0.2151	L	0.41906	1.305	0.09310	N	1	B	0.31077	0.307	P	0.49192	0.602	T	0.58504	-0.7625	9	0.87932	D	0	.	3.7772	0.08665	0.1596:0.1818:0.0:0.6586	.	566	Q9UN66	PCDB8_HUMAN	Q	566	ENSP00000239444:L566Q	ENSP00000239444:L566Q	L	+	2	0	PCDHB8	140539496	0.000000	0.05858	0.992000	0.48379	0.761000	0.43186	-0.403000	0.07214	0.500000	0.27991	0.248000	0.18094	CTG		0.721	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		20	163	0	0	0	0.002836	0	20	163				
PCDHGC5	56097	broad.mit.edu	37	5	140870009	140870009	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140870009A>T	ENST00000252087.1	+	1	1202	c.1202A>T	c.(1201-1203)gAg>gTg	p.E401V	PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTTCTGAGAACCACTAC	0.532																																							uc003lla.1		NA																	0				ovary(3)	3						c.(1201-1203)GAG>GTG		protocadherin gamma subfamily C, 5 isoform 1							123.0	125.0	125.0					5																	140870009		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870009A>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1202A>T	5.37:g.140870009A>T	ENSP00000252087:p.Glu401Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.E401V	p.E401V	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1202	+			401			Extracellular (Potential).|Cadherin 4.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1202A>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.185792	0.38609	.	.	ENSG00000240764	ENST00000252087	T	0.02763	4.17	5.56	4.4	0.53042	Cadherin (4);Cadherin-like (1);	0.105348	0.42294	D	0.000740	T	0.13970	0.0338	M	0.83953	2.67	0.31884	N	0.618112	P;D	0.63880	0.579;0.993	B;D	0.65987	0.409;0.94	T	0.04900	-1.0919	10	0.59425	D	0.04	.	11.2421	0.48974	0.9282:0.0:0.0718:0.0	.	401;401	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	V	401	ENSP00000252087:E401V	ENSP00000252087:E401V	E	+	2	0	PCDHGC5	140850193	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	3.267000	0.51577	1.126000	0.42016	0.533000	0.62120	GAG		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		32	87	0	0	0	0.009535	0	32	87				
FGF1	2246	broad.mit.edu	37	5	141993670	141993670	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:141993670G>A	ENST00000359370.6	-	2	102	c.23C>T	c.(22-24)aCc>aTc	p.T8I	AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000378046.1_Missense_Mutation_p.T8I|FGF1_ENST00000337706.2_Missense_Mutation_p.T8I|FGF1_ENST00000360966.5_Missense_Mutation_p.T8I|FGF1_ENST00000419524.2_Missense_Mutation_p.T8I|FGF1_ENST00000407758.1_Missense_Mutation_p.T8I	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	8					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	GGCTGTGAAGGTGGTGATTTC	0.507																																							uc003lmm.2		NA																	0					0						c.(22-24)ACC>ATC		fibroblast growth factor 1 (acidic) isoform 1	Pentosan Polysulfate(DB00686)						114.0	109.0	111.0					5																	141993670		2203	4300	6503	SO:0001583	missense	2246				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	g.chr5:141993670G>A	X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.23C>T	5.37:g.141993670G>A	ENSP00000352329:p.Thr8Ile					FGF1_uc011dbi.1_Missense_Mutation_p.T8I|FGF1_uc003lmn.3_Missense_Mutation_p.T8I|FGF1_uc003lmp.3_Missense_Mutation_p.T8I|FGF1_uc003lmq.2_Missense_Mutation_p.T8I|FGF1_uc010jgj.2_Missense_Mutation_p.T8I|FGF1_uc003lmr.2_Missense_Mutation_p.T8I|FGF1_uc003lms.3_Missense_Mutation_p.T8I	p.T8I	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	2	103	-		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	8					B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	c.23C>T	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020016	0.93462	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000360966;ENST00000407758;ENST00000441680;ENST00000419524;ENST00000394496;ENST00000411960	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;P	0.76494	0.998;0.999;0.999;0.564	D;D;D;B	0.80764	0.99;0.988;0.994;0.098	T	0.66536	-0.5899	10	0.62326	D	0.03	.	20.0989	0.97860	0.0:0.0:1.0:0.0	.	8;8;8;8	Q16089;A8K147;P05230-2;P05230	.;.;.;FGF1_HUMAN	I	8	ENSP00000352329:T8I;ENSP00000367285:T8I;ENSP00000338548:T8I;ENSP00000354231:T8I;ENSP00000383969:T8I;ENSP00000404742:T8I;ENSP00000396195:T8I;ENSP00000378005:T8I;ENSP00000399458:T8I	ENSP00000338548:T8I	T	-	2	0	FGF1	141973854	1.000000	0.71417	0.956000	0.39512	0.962000	0.63368	8.246000	0.89828	2.764000	0.94973	0.650000	0.86243	ACC		0.507	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800		13	42	0	0	0	0.001855	0	13	42				
PLAC8L1	153770	broad.mit.edu	37	5	145465023	145465023	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:145465023C>T	ENST00000311450.4	-	3	451		c.e3+1			NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1											autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACACACTTACCTGTATTTTA	0.453																																							uc003lnv.2		NA																	0					0						c.e3+1		PLAC8-like 1							159.0	120.0	133.0					5																	145465023		2203	4300	6503	SO:0001630	splice_region_variant	153770							g.chr5:145465023C>T		CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.393+1G>A	5.37:g.145465023C>T						PLAC8L1_uc011dbp.1_Splice_Site	p.Q131_splice	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	465	-									Splice_Site	SNP	ENST00000311450.4	37	c.393_splice	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359615	0.82353	.	.	ENSG00000173261	ENST00000311450	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLAC8L1	145445216	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.653000	0.67967	2.567000	0.86603	0.655000	0.94253	.		0.453	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761	Intron	9	36	0	0	0	0.006214	0	9	36				
PCYOX1L	78991	broad.mit.edu	37	5	148748059	148748059	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:148748059C>G	ENST00000274569.4	+	6	1389	c.1327C>G	c.(1327-1329)Ctc>Gtc	p.L443V	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.L353V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	443					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACCAGCTCTTCTACCT	0.612																																					Ovarian(62;1136 1477 27277 27495)	Ovarian(62;1136 1477 27277 27495)	uc003lqk.2		NA																	0				skin(1)	1						c.(1327-1329)CTC>GTC		prenylcysteine oxidase 1 like precursor							65.0	67.0	66.0					5																	148748059		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148748059C>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1327C>G	5.37:g.148748059C>G	ENSP00000274569:p.Leu443Val					PCYOX1L_uc003lql.2_Missense_Mutation_p.L426V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.L367V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.L325V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.L353V	p.L443V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1389	+			443					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.1327C>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341402	0.81911	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.23754	1.89;1.89	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.068530	0.64402	D	0.000010	T	0.48909	0.1526	M	0.67625	2.065	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.984	P;D;P	0.63488	0.883;0.915;0.866	T	0.30736	-0.9968	10	0.34782	T	0.22	-38.7589	19.427	0.94746	0.0:1.0:0.0:0.0	.	325;353;443	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	V	443;353	ENSP00000274569:L443V;ENSP00000428512:L353V	ENSP00000274569:L443V	L	+	1	0	PCYOX1L	148728252	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.577000	0.86979	0.561000	0.74099	CTC		0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		21	58	0	0	0	0.010504	0	21	58				
PDE6A	5145	broad.mit.edu	37	5	149247691	149247691	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:149247691T>C	ENST00000255266.5	-	18	2285	c.2166A>G	c.(2164-2166)tcA>tcG	p.S722S		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	722					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGGTGATGGCTGAGAGATCAC	0.552																																							uc003lrg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(2164-2166)TCA>TCG		phosphodiesterase 6A							145.0	125.0	132.0					5																	149247691		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149247691T>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2166A>G	5.37:g.149247691T>C							p.S722S	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		18	2286	-			722					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2166A>G	CCDS4299.1																																																																																				0.552	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			5	81	0	0	0	0.001984	0	5	81				
SLC26A2	1836	broad.mit.edu	37	5	149361207	149361207	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:149361207C>T	ENST00000286298.4	+	3	2319	c.2051C>T	c.(2050-2052)gCt>gTt	p.A684V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	684	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTTCTGCTGGCTCAGTGCAAT	0.433																																							uc003lrh.2		NA																	0					0						c.(2050-2052)GCT>GTT		solute carrier family 26 member 2							62.0	64.0	63.0					5																	149361207		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149361207C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.2051C>T	5.37:g.149361207C>T	ENSP00000286298:p.Ala684Val						p.A684V	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	2319	+			684			Cytoplasmic (Potential).|STAS.		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.2051C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458937	0.84317	.	.	ENSG00000155850	ENST00000286298	D	0.86694	-2.16	5.97	5.97	0.96955	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.047457	0.85682	D	0.000000	D	0.92629	0.7658	M	0.76574	2.34	0.58432	D	0.999998	P	0.50710	0.938	P	0.59012	0.85	D	0.90950	0.4804	10	0.40728	T	0.16	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	684	P50443	S26A2_HUMAN	V	684	ENSP00000286298:A684V	ENSP00000286298:A684V	A	+	2	0	SLC26A2	149341400	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.000000	0.70678	2.837000	0.97791	0.655000	0.94253	GCT		0.433	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		11	32	0	0	0	0.001855	0	11	32				
LSM11	134353	broad.mit.edu	37	5	157170864	157170864	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:157170864G>A	ENST00000286307.5	+	1	162	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	36					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCGCTGCTGGCCCTGTACGC	0.731																																							uc003lxe.1		NA																	0					0						c.(106-108)GCC>ACC		LSM11, U7 small nuclear RNA associated							11.0	11.0	11.0					5																	157170864		2170	4256	6426	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157170864G>A	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.106G>A	5.37:g.157170864G>A	ENSP00000286307:p.Ala36Thr						p.A36T	NM_173491	NP_775762	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	110	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	36					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.106G>A	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973586	0.74246	.	.	ENSG00000155858	ENST00000286307	.	.	.	2.93	2.93	0.34026	.	0.000000	0.85682	U	0.000000	T	0.74176	0.3682	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78513	-0.2175	9	0.87932	D	0	-9.4123	14.3036	0.66371	0.0:0.0:1.0:0.0	.	36	P83369	LSM11_HUMAN	T	36	.	ENSP00000286307:A36T	A	+	1	0	LSM11	157103442	1.000000	0.71417	0.993000	0.49108	0.072000	0.16883	7.210000	0.77924	1.635000	0.50512	0.442000	0.29010	GCC		0.731	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		3	14	0	0	0	0.004672	0	3	14				
ADRA1B	147	broad.mit.edu	37	5	159344042	159344042	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:159344042A>G	ENST00000306675.3	+	1	253	c.130A>G	c.(130-132)Agg>Ggg	p.R44G		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	44					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	GGACATCACCAGGGCCATCTC	0.597																																							uc003lxt.1		NA																	0				lung(1)	1						c.(130-132)AGG>GGG		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						84.0	84.0	84.0					5																	159344042		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344042A>G	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.130A>G	5.37:g.159344042A>G	ENSP00000306662:p.Arg44Gly						p.R44G	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	303	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	44			Extracellular (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.130A>G	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034970	0.35893	.	.	ENSG00000170214	ENST00000306675	T	0.36878	1.23	4.94	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	N	0.24115	0.695	0.39947	D	0.974489	P	0.41710	0.76	B	0.39660	0.306	T	0.05869	-1.0859	10	0.54805	T	0.06	.	9.5736	0.39442	0.8231:0.1769:0.0:0.0	.	44	P35368	ADA1B_HUMAN	G	44	ENSP00000306662:R44G	ENSP00000306662:R44G	R	+	1	2	ADRA1B	159276620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.435000	0.52849	0.790000	0.33803	0.379000	0.24179	AGG		0.597	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			23	52	0	0	0	0.001882	0	23	52				
GABRA6	2559	broad.mit.edu	37	5	161128731	161128731	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:161128731A>T	ENST00000274545.5	+	9	1747	c.1314A>T	c.(1312-1314)gtA>gtT	p.V438V	GABRA6_ENST00000523217.1_Silent_p.V428V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	438					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTACTGGGTAGTTTATCTTT	0.428										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1312-1314)GTA>GTT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						108.0	98.0	102.0					5																	161128731		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128731A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1314A>T	5.37:g.161128731A>T		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.V209V	p.V438V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1652	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	438			Helical; (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1314A>T	CCDS4356.1																																																																																				0.428	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			20	52	0	0	0	0.002299	0	20	52				
TENM2	57451	broad.mit.edu	37	5	167379732	167379732	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:167379732C>G	ENST00000518659.1	+	4	891	c.852C>G	c.(850-852)gcC>gcG	p.A284A	TENM2_ENST00000403607.2_Silent_p.A117A|TENM2_ENST00000519204.1_Silent_p.A163A|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Silent_p.A284A|TENM2_ENST00000520394.1_Silent_p.A93A|CTC-353G13.1_ENST00000523050.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	284	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGATCCACGCCCCGGCCCCAG	0.622																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(850-852)GCC>GCG		odz, odd Oz/ten-m homolog 2							63.0	74.0	70.0					5																	167379732		2197	4282	6479	SO:0001819	synonymous_variant	57451							g.chr5:167379732C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.852C>G	5.37:g.167379732C>G						ODZ2_uc003lzq.2_Silent_p.A163A|ODZ2_uc003lzr.3_Silent_p.A93A	p.A284A	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	4	852	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.852C>G																																																																																					0.622	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	9	0	0	0	0.000602	0	5	9				
DOCK2	1794	broad.mit.edu	37	5	169145738	169145738	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169145738T>C	ENST00000256935.8	+	22	2290	c.2210T>C	c.(2209-2211)cTg>cCg	p.L737P	DOCK2_ENST00000520908.1_Missense_Mutation_p.L229P|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	737					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTAAGAACGCTGAAGGCTTTG	0.398																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2209-2211)CTG>CCG		dedicator of cytokinesis 2							141.0	117.0	125.0					5																	169145738		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169145738T>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2210T>C	5.37:g.169145738T>C	ENSP00000256935:p.Leu737Pro					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L229P	p.L737P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2290	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	737					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2210T>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910307	0.72983	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.77877	-1.13;-1.13	5.58	5.58	0.84498	.	0.065163	0.64402	D	0.000006	D	0.87720	0.6248	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.87;0.998	D	0.89046	0.3452	10	0.72032	D	0.01	.	15.8096	0.78547	0.0:0.0:0.0:1.0	.	229;737	E7ERW7;Q92608	.;DOCK2_HUMAN	P	737;229	ENSP00000256935:L737P;ENSP00000429283:L229P	ENSP00000256935:L737P	L	+	2	0	DOCK2	169078316	1.000000	0.71417	0.977000	0.42913	0.684000	0.39900	8.013000	0.88655	2.150000	0.67090	0.524000	0.50904	CTG		0.398	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	53	0	0	0	0.001855	0	13	53				
DOCK2	1794	broad.mit.edu	37	5	169472840	169472840	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169472840T>C	ENST00000256935.8	+	39	3977	c.3897T>C	c.(3895-3897)agT>agC	p.S1299S	DOCK2_ENST00000520908.1_Silent_p.S791S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S360S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1299	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCATAAGTCTGTGCAAGG	0.567																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3895-3897)AGT>AGC		dedicator of cytokinesis 2							177.0	158.0	165.0					5																	169472840		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169472840T>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3897T>C	5.37:g.169472840T>C						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S791S	p.S1299S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		39	3977	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1299			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3897T>C	CCDS4371.1																																																																																				0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	70	0	0	0	0.00245	0	13	70				
KCNMB1	3779	broad.mit.edu	37	5	169805721	169805721	+	Missense_Mutation	SNP	G	G	C	rs200312354		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169805721G>C	ENST00000274629.4	-	4	1005	c.563C>G	c.(562-564)gCg>gGg	p.A188G	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	188					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CTTCTGGGCCGCCAGGATGGA	0.617																																							uc003maq.1		NA																	0				ovary(2)	2						c.(562-564)GCG>GGG		potassium large conductance calcium-activated							93.0	95.0	94.0					5																	169805721		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805721G>C	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.563C>G	5.37:g.169805721G>C	ENSP00000274629:p.Ala188Gly					KCNIP1_uc003map.2_Intron	p.A188G	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	963	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	188			Cytoplasmic (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.563C>G	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991401	0.74703	.	.	ENSG00000145936	ENST00000274629	T	0.12255	2.7	5.31	4.44	0.53790	.	0.263939	0.37577	N	0.002035	T	0.20007	0.0481	L	0.44542	1.39	0.80722	D	1	D	0.56287	0.975	P	0.56042	0.79	T	0.00338	-1.1806	9	.	.	.	.	8.9092	0.35543	0.0996:0.0:0.9004:0.0	.	188	Q16558	KCMB1_HUMAN	G	188	ENSP00000274629:A188G	.	A	-	2	0	KCNMB1	169738299	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	4.403000	0.59729	2.461000	0.83175	0.591000	0.81541	GCG		0.617	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			22	67	0	0	0	0.00333	0	22	67				
SH3PXD2B	285590	broad.mit.edu	37	5	171765970	171765970	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:171765970C>A	ENST00000311601.5	-	13	2309	c.2139G>T	c.(2137-2139)acG>acT	p.T713T	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	713					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGTTTGCCCGTCCTGTCCT	0.637																																							uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(2137-2139)ACG>ACT		SH3 and PX domains 2B							36.0	39.0	38.0					5																	171765970		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765970C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2139G>T	5.37:g.171765970C>A							p.T713T	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2310	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	713					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.2139G>T	CCDS34291.1																																																																																				0.637	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		10	30	1	0	0.000673444	0.008291	0.000712385	10	30				
DRD1	1812	broad.mit.edu	37	5	174869318	174869318	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:174869318A>T	ENST00000393752.2	-	2	1777	c.785T>A	c.(784-786)aTg>aAg	p.M262K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	262					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTTGAAGGACATCTTAAAAGA	0.473																																							uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(784-786)ATG>AAG		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						79.0	83.0	82.0					5																	174869318		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869318A>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.785T>A	5.37:g.174869318A>T	ENSP00000377353:p.Met262Lys						p.M262K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1730	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	262			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.785T>A	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008579	0.35415	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.33438	1.41	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.040179	0.85682	D	0.000000	T	0.20414	0.0491	N	0.16098	0.37	0.50171	D	0.999854	B	0.22541	0.071	B	0.32090	0.14	T	0.09975	-1.0650	10	0.33940	T	0.23	.	9.4627	0.38794	0.9208:0.0:0.0792:0.0	.	262	P21728	DRD1_HUMAN	K	262	ENSP00000377353:M262K	ENSP00000327652:M262K	M	-	2	0	DRD1	174801924	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.392000	0.59659	2.178000	0.69098	0.528000	0.53228	ATG		0.473	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		14	37	0	0	0	0.004007	0	14	37				
SIMC1	375484	broad.mit.edu	37	5	175717418	175717418	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:175717418A>G	ENST00000443967.1	+	4	1241	c.834A>G	c.(832-834)ttA>ttG	p.L278L	SIMC1_ENST00000429602.2_Silent_p.L297L|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	278	Pro-rich.						SUMO polymer binding (GO:0032184)										AAAGCATATTACATCCACAAG	0.542																																							uc003mds.3		NA																	0					0						c.(832-834)TTA>TTG		RecName: Full=Uncharacterized protein C5orf25;							91.0	81.0	84.0					5																	175717418		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175717418A>G	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.834A>G	5.37:g.175717418A>G						C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Silent_p.L297L|uc003mdu.1_Silent_p.L189L	p.L278L			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1241	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	278			Pro-rich.		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.834A>G																																																																																					0.542	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		11	30	0	0	0	0.001368	0	11	30				
EXOC2	55770	broad.mit.edu	37	6	576801	576801	+	Missense_Mutation	SNP	G	G	A	rs563095350		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:576801G>A	ENST00000230449.4	-	12	1409	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	EXOC2_ENST00000448181.3_Missense_Mutation_p.A20V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	425					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTCAGGGACGCTGTCTGACT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		14449	0.0		0.0	False		,,,				2504	0.001						uc003mtd.2		NA																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(1273-1275)GCG>GTG		Sec5 protein							123.0	98.0	106.0					6																	576801		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:576801G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1274C>T	6.37:g.576801G>A	ENSP00000230449:p.Ala425Val					EXOC2_uc003mte.2_Missense_Mutation_p.A425V|EXOC2_uc011dho.1_Missense_Mutation_p.A20V	p.A425V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	12	1408	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	425					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1274C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708596	0.48517	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.42900	0.96	5.7	5.7	0.88788	.	0.217749	0.47455	D	0.000224	T	0.20659	0.0497	L	0.41236	1.265	0.52099	D	0.999942	P	0.44659	0.84	B	0.31390	0.129	T	0.04017	-1.0984	10	0.29301	T	0.29	-14.3028	19.8309	0.96634	0.0:0.0:1.0:0.0	.	425	Q96KP1	EXOC2_HUMAN	V	425;20	ENSP00000230449:A425V	ENSP00000230449:A425V	A	-	2	0	EXOC2	521801	1.000000	0.71417	0.574000	0.28523	0.297000	0.27493	8.897000	0.92532	2.684000	0.91462	0.650000	0.86243	GCG		0.507	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		9	58	0	0	0	0.004482	0	9	58				
BPHL	670	broad.mit.edu	37	6	3129350	3129350	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:3129350A>T	ENST00000380379.5	+	4	499	c.450A>T	c.(448-450)gcA>gcT	p.A150A	BPHL_ENST00000380368.2_Silent_p.A133A|BPHL_ENST00000380375.3_Silent_p.A133A|BPHL_ENST00000434640.1_Silent_p.A133A	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	150					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGCTGCTGCAAAATATCCAT	0.507																																							uc003mva.2		NA																	0					0						c.(448-450)GCA>GCT		biphenyl hydrolase-like precursor							170.0	140.0	150.0					6																	3129350		2203	4300	6503	SO:0001819	synonymous_variant	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3129350A>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.450A>T	6.37:g.3129350A>T						BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.A133A	p.A150A	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			4	499	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	150					Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	c.450A>T	CCDS4483.2																																																																																				0.507	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			53	39	0	0	0	0.00361	0	53	39				
PHACTR1	221692	broad.mit.edu	37	6	13283761	13283761	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:13283761T>C	ENST00000379335.3	+	3	414	c.309T>C	c.(307-309)gaT>gaC	p.D103D	PHACTR1_ENST00000457702.2_Silent_p.D394D|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379329.1_Silent_p.D103D|PHACTR1_ENST00000332995.7_Silent_p.D539D|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	539					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCAGGGCAGATAAGCCGTGGA	0.612																																							uc010jpc.2		NA																	0					0						c.(1615-1617)GAT>GAC		phosphatase and actin regulator 1							77.0	88.0	84.0					6																	13283761		2074	4195	6269	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13283761T>C	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.309T>C	6.37:g.13283761T>C						PHACTR1_uc003nah.1_Silent_p.D539D|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	p.D539D	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		13	1949	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	539					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379335.3	37	c.1617T>C		.	.	.	.	.	.	.	.	.	.	T	10.81	1.454792	0.26161	.	.	ENSG00000112137	ENST00000415087	.	.	.	5.9	2.11	0.27256	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41070	-0.9529	4	.	.	.	-20.4555	9.8656	0.41140	0.0:0.7176:0.0:0.2824	.	.	.	.	T	374	.	.	I	+	2	0	PHACTR1	13391740	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.325000	0.19628	0.819000	0.34492	-0.242000	0.12053	ATA		0.612	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		21	47	0	0	0	0.004656	0	21	47				
ATXN1	6310	broad.mit.edu	37	6	16326806	16326806	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:16326806A>G	ENST00000244769.4	-	8	2672	c.1736T>C	c.(1735-1737)aTc>aCc	p.I579T	ATXN1_ENST00000436367.1_Missense_Mutation_p.I579T	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	579	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.|Self-association.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAACTGGATGATGGAGCCTTT	0.572																																							uc003nbt.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1735-1737)ATC>ACC		ataxin 1							62.0	65.0	64.0					6																	16326806		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16326806A>G	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1736T>C	6.37:g.16326806A>G	ENSP00000244769:p.Ile579Thr					ATXN1_uc010jpi.2_Missense_Mutation_p.I579T|ATXN1_uc010jpj.1_Intron	p.I579T	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	2707	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	579			Self-association.|Interaction with USP7.|RNA-binding.|AXH.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1736T>C	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826430	0.71143	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80393	-1.37;-1.37	4.83	4.83	0.62350	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.051108	0.85682	D	0.000000	T	0.80793	0.4691	L	0.55834	1.745	0.80722	D	1	D	0.54772	0.968	P	0.56648	0.803	D	0.84031	0.0359	10	0.87932	D	0	-22.8498	14.3956	0.67007	1.0:0.0:0.0:0.0	.	579	P54253	ATX1_HUMAN	T	579	ENSP00000244769:I579T;ENSP00000416360:I579T	ENSP00000244769:I579T	I	-	2	0	ATXN1	16434785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.832000	0.92079	1.809000	0.52856	0.459000	0.35465	ATC		0.572	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		15	83	0	0	0	0.003163	0	15	83				
GPX6	257202	broad.mit.edu	37	6	28473527	28473527	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:28473527C>A	ENST00000361902.1	-	4	461	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	138					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCACATCCCCTTTCTCAAAG	0.443																																							uc011dlj.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(412-414)GGG>TGG		glutathione peroxidase 6 precursor	Glutathione(DB00143)						91.0	96.0	94.0					6																	28473527		2129	4267	6396	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473527C>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.412G>T	6.37:g.28473527C>A	ENSP00000354581:p.Gly138Trp					GPX6_uc010jrg.1_Intron	p.G138W	NM_182701	NP_874360	P59796	GPX6_HUMAN			5	462	-			138					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.412G>T	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835362	0.71373	.	.	ENSG00000198704	ENST00000361902	T	0.08282	3.11	4.44	4.44	0.53790	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02885	-1.1098	10	0.72032	D	0.01	.	15.3761	0.74607	0.0:1.0:0.0:0.0	.	138	P59796	GPX6_HUMAN	W	138	ENSP00000354581:G138W	ENSP00000354581:G138W	G	-	1	0	GPX6	28581506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.687000	0.54692	2.729000	0.93468	0.655000	0.94253	GGG		0.443	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			8	109	1	0	2.74318e-10	0.006214	3.27811e-10	8	109				
OR2W1	26692	broad.mit.edu	37	6	29012595	29012595	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:29012595A>G	ENST00000377175.1	-	1	422	c.358T>C	c.(358-360)Tat>Cat	p.Y120H		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AAACGATCATAGGACATAACA	0.403																																							uc003nlw.2		NA																	0				ovary(2)|skin(1)	3						c.(358-360)TAT>CAT		olfactory receptor, family 2, subfamily W,							101.0	81.0	88.0					6																	29012595		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012595A>G	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.358T>C	6.37:g.29012595A>G	ENSP00000366380:p.Tyr120His						p.Y120H	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	358	-			120			Helical; Name=3; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.358T>C	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.728684	0.48833	.	.	ENSG00000204704	ENST00000377175	T	0.00487	7.05	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000308	T	0.00998	0.0033	M	0.93197	3.39	0.31498	N	0.665119	D	0.71674	0.998	D	0.66602	0.945	T	0.04796	-1.0926	10	0.87932	D	0	.	13.1476	0.59472	1.0:0.0:0.0:0.0	.	120	Q9Y3N9	OR2W1_HUMAN	H	120	ENSP00000366380:Y120H	ENSP00000366380:Y120H	Y	-	1	0	OR2W1	29120574	0.864000	0.29904	0.998000	0.56505	0.656000	0.38851	3.634000	0.54302	1.766000	0.52107	0.482000	0.46254	TAT		0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			7	88	0	0	0	0.001984	0	7	88				
ABCF1	23	broad.mit.edu	37	6	30553956	30553956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:30553956C>T	ENST00000326195.8	+	18	1871	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R549*|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	587					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCAGAAATGCCGACGGAAAAA	0.542																																							uc003nql.2		NA																	0				ovary(2)	2						c.(1759-1761)CGA>TGA		ATP-binding cassette, sub-family F, member 1							58.0	63.0	62.0					6																	30553956		2203	4300	6503	SO:0001587	stop_gained	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553956C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1759C>T	6.37:g.30553956C>T	ENSP00000313603:p.Arg587*					ABCF1_uc003nqm.2_Nonsense_Mutation_p.R549*|ABCF1_uc010jsb.2_Intron	p.R587*	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			18	1854	+			587					A2BF75|O14897|Q69YP6	Nonsense_Mutation	SNP	ENST00000326195.8	37	c.1759C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	39	7.722384	0.98453	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	.	.	.	4.8	2.92	0.33932	.	0.271360	0.35096	N	0.003458	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-12.5788	12.3282	0.55024	0.3074:0.6926:0.0:0.0	.	.	.	.	X	587;549	.	ENSP00000313603:R587X	R	+	1	2	ABCF1	30661935	0.997000	0.39634	0.960000	0.40013	0.982000	0.71751	1.779000	0.38624	0.560000	0.29169	0.555000	0.69702	CGA		0.542	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			15	73	0	0	0	0.004007	0	15	73				
MICB	4277	broad.mit.edu	37	6	31474022	31474022	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:31474022A>G	ENST00000252229.6	+	3	507	c.428A>G	c.(427-429)cAa>cGa	p.Q143R	MICB_ENST00000538442.1_Missense_Mutation_p.Q111R|MICB_ENST00000399150.3_Intron	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCCTCTCCCAAAACCTGGAG	0.527																																							uc003ntn.3		NA																	0					0						c.(427-429)CAA>CGA		MHC class I polypeptide-related sequence B							65.0	66.0	66.0					6																	31474022		1907	4116	6023	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474022A>G		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.428A>G	6.37:g.31474022A>G	ENSP00000252229:p.Gln143Arg					MICB_uc011dnm.1_Missense_Mutation_p.Q111R|MICB_uc003nto.3_Intron	p.Q143R	NM_005931	NP_005922	Q29980	MICB_HUMAN			3	544	+			143			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000252229.6	37	c.428A>G	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	4.948	0.176191	0.09443	.	.	ENSG00000204516	ENST00000538442;ENST00000252229	T;T	0.01629	4.72;4.72	2.17	-4.34	0.03666	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.779070	0.03736	U	0.254288	T	0.01870	0.0059	M	0.63428	1.95	0.09310	N	1	D;D	0.60160	0.987;0.979	D;D	0.79108	0.992;0.93	T	0.51395	-0.8711	10	0.72032	D	0.01	.	3.5342	0.07788	0.1409:0.1238:0.1173:0.618	.	111;143	F5H7Q8;Q29980	.;MICB_HUMAN	R	111;143	ENSP00000442345:Q111R;ENSP00000252229:Q143R	ENSP00000252229:Q143R	Q	+	2	0	MICB	31582001	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.860000	0.04272	-4.474000	0.00047	-3.542000	0.00031	CAA		0.527	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		8	74	0	0	0	0.006214	0	8	74				
HSPA1L	3305	broad.mit.edu	37	6	31777849	31777849	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:31777849C>T	ENST00000375654.4	-	2	2090	c.1901G>A	c.(1900-1902)gGc>gAc	p.G634D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G634D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	634					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AATTGTGGGGCCTGTGGCAGG	0.453																																							uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1900-1902)GGC>GAC		heat shock 70kDa protein 1-like							67.0	72.0	71.0					6																	31777849		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31777849C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1901G>A	6.37:g.31777849C>T	ENSP00000364805:p.Gly634Asp					HSPA1L_uc010jte.2_Missense_Mutation_p.G634D	p.G634D	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	2084	-			634					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1901G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	9.676	1.148129	0.21288	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01240	5.12;5.12	5.94	5.08	0.68730	.	0.000000	0.35436	N	0.003210	T	0.01287	0.0042	M	0.79123	2.44	0.80722	D	1	B	0.30542	0.284	B	0.24701	0.055	T	0.40251	-0.9573	10	0.87932	D	0	-14.4354	12.9046	0.58145	0.0:0.9218:0.0:0.0782	.	634	P34931	HS71L_HUMAN	D	634;634;579	ENSP00000364805:G634D;ENSP00000387691:G634D	ENSP00000364804:G579D	G	-	2	0	HSPA1L	31885828	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	6.091000	0.71406	1.520000	0.48965	-0.229000	0.12294	GGC		0.453	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			9	75	0	0	0	0.006214	0	9	75				
STK19	8859	broad.mit.edu	37	6	31939953	31939953	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:31939953C>A	ENST00000375333.2	+	1	233	c.180C>A	c.(178-180)atC>atA	p.I60I	STK19_ENST00000375331.2_Silent_p.I60I|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	60					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GGGAGCCAATCCGCGGCCGGC	0.706																																							uc003nyv.2		NA																	0				skin(4)	4						c.(178-180)ATC>ATA		serine/threonine kinase 19 isoform 2							20.0	26.0	24.0					6																	31939953		2183	4268	6451	SO:0001819	synonymous_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939953C>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.180C>A	6.37:g.31939953C>A						DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Silent_p.I60I|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Silent_p.I60I|STK19_uc010jtn.1_5'Flank	p.I60I	NM_032454	NP_115830	P49842	STK19_HUMAN			1	308	+			60					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP	ENST00000375333.2	37	c.180C>A	CCDS4733.1																																																																																				0.706	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			12	52	1	0	5.50884e-06	0.001368	6.04854e-06	12	52				
LRFN2	57497	broad.mit.edu	37	6	40400486	40400486	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:40400486G>T	ENST00000338305.6	-	2	909	c.367C>A	c.(367-369)Ctg>Atg	p.L123M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	123						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGTTGACCAGGCCCCGGAGG	0.587																																							uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(367-369)CTG>ATG		leucine rich repeat and fibronectin type III							52.0	46.0	48.0					6																	40400486		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400486G>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.367C>A	6.37:g.40400486G>T	ENSP00000345985:p.Leu123Met						p.L123M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	832	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		123			Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.367C>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862437	0.51482	.	.	ENSG00000156564	ENST00000338305	T	0.04275	3.66	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.73430	2.235	0.58432	D	0.999991	D	0.56287	0.975	D	0.67382	0.951	T	0.01853	-1.1260	10	0.49607	T	0.09	.	7.9033	0.29746	0.2388:0.0:0.7612:0.0	.	123	Q9ULH4	LRFN2_HUMAN	M	123	ENSP00000345985:L123M	ENSP00000345985:L123M	L	-	1	2	LRFN2	40508464	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.336000	0.43938	1.445000	0.47624	0.655000	0.94253	CTG		0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		26	16	1	0	4.72057e-08	0.003954	5.4374e-08	26	16				
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTGTCGGTGCGCTACGCAGG	0.637																																							uc003out.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(1192-1194)CGC>TGC		solute carrier family 22 member 7 isoform b							85.0	70.0	75.0					6																	43270068		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270068C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1192C>T	6.37:g.43270068C>T	ENSP00000361666:p.Arg398Cys					SLC22A7_uc010jyl.1_Missense_Mutation_p.R399C|SLC22A7_uc003ous.2_Missense_Mutation_p.R396C	p.R398C	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1291	+			398					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1192C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262101	0.59431	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.65916	-0.18;-0.18;-0.18;0.23	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343274	0.31859	N	0.006947	T	0.74749	0.3757	M	0.86178	2.8	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.975;0.975	T	0.78219	-0.2289	10	0.56958	D	0.05	.	11.5165	0.50524	0.1789:0.8211:0.0:0.0	.	398;396;396	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	C	396;398;396;91	ENSP00000361670:R396C;ENSP00000361666:R398C;ENSP00000361655:R396C;ENSP00000393836:R91C	ENSP00000361655:R396C	R	+	1	0	SLC22A7	43378046	1.000000	0.71417	0.839000	0.33178	0.639000	0.38242	2.351000	0.44071	2.468000	0.83385	0.462000	0.41574	CGC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			4	33	0	0	0	0.009096	0	4	33				
XPO5	57510	broad.mit.edu	37	6	43496605	43496605	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:43496605T>C	ENST00000265351.7	-	24	2946	c.2736A>G	c.(2734-2736)gtA>gtG	p.V912V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	912					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATGGGGGATACCAGGGCTT	0.468																																							uc003ovp.2		NA																	0				skin(2)|breast(1)|kidney(1)	4						c.(2734-2736)GTA>GTG		exportin 5							56.0	58.0	57.0					6																	43496605		1883	4103	5986	SO:0001819	synonymous_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43496605T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2736A>G	6.37:g.43496605T>C						POLR1C_uc003ovo.1_Intron	p.V912V	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		24	2947	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		912					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	c.2736A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515697	0.27123	.	.	ENSG00000124571	ENST00000455285	.	.	.	5.85	-1.87	0.07737	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-13.0017	8.2115	0.31486	0.0:0.3881:0.1292:0.4827	.	.	.	.	C	16	.	.	Y	-	2	0	XPO5	43604583	0.959000	0.32827	0.985000	0.45067	0.957000	0.61999	-0.015000	0.12634	-0.252000	0.09528	-0.250000	0.11733	TAT		0.468	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		3	22	0	0	0	0.004672	0	3	22				
GPR116	221395	broad.mit.edu	37	6	46836805	46836805	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:46836805G>A	ENST00000283296.7	-	12	1724	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	GPR116_ENST00000362015.4_Missense_Mutation_p.P479L|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000456426.2_Missense_Mutation_p.P337L|GPR116_ENST00000265417.7_Missense_Mutation_p.P479L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	479	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACAGAAATTGGGTCCGGGGT	0.353																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1435-1437)CCA>CTA		G-protein coupled receptor 116 precursor							59.0	59.0	59.0					6																	46836805		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836805G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1436C>T	6.37:g.46836805G>A	ENSP00000283296:p.Pro479Leu					GPR116_uc011dwj.1_Missense_Mutation_p.P34L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.P337L|GPR116_uc003oyq.3_Missense_Mutation_p.P479L|GPR116_uc010jzi.1_Missense_Mutation_p.P151L	p.P479L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1725	-			479			Ig-like 3.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1436C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453821	0.26161	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.63	-0.132	0.13489	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.716538	0.13044	N	0.418294	T	0.03263	0.0095	N	0.12746	0.255	0.80722	D	1	B;B;B;B	0.12013	0.002;0.001;0.005;0.001	B;B;B;B	0.13407	0.001;0.004;0.009;0.004	T	0.33497	-0.9866	10	0.37606	T	0.19	-0.5764	4.1089	0.10050	0.2214:0.1117:0.553:0.1139	.	34;479;337;479	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	L	479;479;479;337;479	ENSP00000283296:P479L;ENSP00000354563:P479L;ENSP00000412866:P337L;ENSP00000265417:P479L	ENSP00000265417:P479L	P	-	2	0	GPR116	46944764	0.997000	0.39634	0.995000	0.50966	0.858000	0.48976	0.448000	0.21726	0.025000	0.15241	0.591000	0.81541	CCA		0.353	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		17	17	0	0	0	0.006122	0	17	17				
GPR115	221393	broad.mit.edu	37	6	47681570	47681570	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:47681570G>A	ENST00000283303.2	+	6	847	c.589G>A	c.(589-591)Gca>Aca	p.A197T	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.A197T|GPR115_ENST00000371220.1_Missense_Mutation_p.A254T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	197					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTCGACACAGCAGCCATTTC	0.413																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(589-591)GCA>ACA		G-protein coupled receptor 115 precursor							76.0	74.0	75.0					6																	47681570		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681570G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.589G>A	6.37:g.47681570G>A	ENSP00000283303:p.Ala197Thr					GPR115_uc003oyz.1_Missense_Mutation_p.A254T|GPR115_uc003ozb.1_Missense_Mutation_p.A195T	p.A197T	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	847	+			197			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.589G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192746	0.01607	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.33865	1.62;1.39;1.39	5.42	2.1	0.27182	.	0.484707	0.21172	N	0.078970	T	0.07324	0.0185	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33471	-0.9867	10	0.11485	T	0.65	-2.4874	3.7756	0.08659	0.2888:0.0:0.4693:0.242	.	197	Q8IZF3	GP115_HUMAN	T	254;197;197	ENSP00000360264:A254T;ENSP00000328319:A197T;ENSP00000283303:A197T	ENSP00000283303:A197T	A	+	1	0	GPR115	47789529	0.025000	0.19082	0.029000	0.17559	0.038000	0.13279	0.651000	0.24873	0.729000	0.32403	0.655000	0.94253	GCA		0.413	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		71	57	0	0	0	0.00361	0	71	57				
PGK2	5232	broad.mit.edu	37	6	49753867	49753867	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:49753867C>A	ENST00000304801.3	-	1	1186	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	345					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAAGGCATCCCATTCAAATAC	0.478																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(1033-1035)TGG>TTG		phosphoglycerate kinase 2							136.0	137.0	137.0					6																	49753867		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753867C>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1034G>T	6.37:g.49753867C>A	ENSP00000305995:p.Trp345Leu						p.W345L	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1141	-	Lung NSC(77;0.0402)		345					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.1034G>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952736	0.53293	.	.	ENSG00000170950	ENST00000304801	D	0.91124	-2.79	4.28	4.28	0.50868	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	N	0.17723	0.515	0.58432	D	0.999997	B	0.27117	0.168	B	0.33750	0.169	T	0.80256	-0.1458	10	0.51188	T	0.08	-6.2905	15.0113	0.71552	0.0:1.0:0.0:0.0	.	345	P07205	PGK2_HUMAN	L	345	ENSP00000305995:W345L	ENSP00000305995:W345L	W	-	2	0	PGK2	49861826	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.194000	0.58393	2.666000	0.90696	0.650000	0.86243	TGG		0.478	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			113	109	1	0	2.20344e-50	0.00361	2.88839e-50	113	109				
PGK2	5232	broad.mit.edu	37	6	49754423	49754423	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:49754423C>A	ENST00000304801.3	-	1	630	c.478G>T	c.(478-480)Gtc>Ttc	p.V160F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	160					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTGACATAGACGTCCCCTAGC	0.488																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(478-480)GTC>TTC		phosphoglycerate kinase 2							108.0	104.0	105.0					6																	49754423		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754423C>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.478G>T	6.37:g.49754423C>A	ENSP00000305995:p.Val160Phe						p.V160F	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	585	-	Lung NSC(77;0.0402)		160					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.478G>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	9.942	1.217805	0.22373	.	.	ENSG00000170950	ENST00000304801	D	0.92805	-3.11	4.09	0.336	0.15958	Phosphoglycerate kinase, N-terminal (1);	0.232106	0.43579	D	0.000552	D	0.93874	0.8040	M	0.86864	2.845	0.43857	D	0.996457	D	0.76494	0.999	D	0.72982	0.979	D	0.92518	0.6022	10	0.87932	D	0	-8.7991	8.0602	0.30629	0.0:0.6303:0.0:0.3697	.	160	P07205	PGK2_HUMAN	F	160	ENSP00000305995:V160F	ENSP00000305995:V160F	V	-	1	0	PGK2	49862382	0.992000	0.36948	0.004000	0.12327	0.059000	0.15707	0.596000	0.24044	0.032000	0.15435	-0.966000	0.02617	GTC		0.488	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			15	113	1	0	2.32078e-09	0.003163	2.73137e-09	15	113				
HCRTR2	3062	broad.mit.edu	37	6	55113517	55113517	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:55113517C>A	ENST00000370862.3	+	2	640	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	102					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCTGATGTGCTCGTGACCAT	0.458																																							uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(304-306)CTC>ATC		orexin receptor 2							238.0	213.0	221.0					6																	55113517		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113517C>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.304C>A	6.37:g.55113517C>A	ENSP00000359899:p.Leu102Ile					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L37I	p.L102I	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	619	+	Lung NSC(77;0.107)|Renal(3;0.122)		102			Helical; Name=2; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.304C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897744	0.72639	.	.	ENSG00000137252	ENST00000370862	T	0.19938	2.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.78637	2.42	0.80722	D	1	D;D	0.62365	0.991;0.977	D;D	0.70016	0.967;0.951	T	0.28332	-1.0047	10	0.45353	T	0.12	.	18.2553	0.90017	0.0:1.0:0.0:0.0	.	102;102	Q548Y0;O43614	.;OX2R_HUMAN	I	102	ENSP00000359899:L102I	ENSP00000359899:L102I	L	+	1	0	HCRTR2	55221476	1.000000	0.71417	0.987000	0.45799	0.755000	0.42902	3.735000	0.55044	2.373000	0.80994	0.650000	0.86243	CTC		0.458	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			46	104	1	0	6.48837e-15	0.002522	8.12025e-15	46	104				
DST	667	broad.mit.edu	37	6	56371299	56371299	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:56371299C>A	ENST00000361203.3	-	72	18453	c.18446G>T	c.(18445-18447)cGg>cTg	p.R6149L	DST_ENST00000421834.2_Missense_Mutation_p.R4172L|DST_ENST00000446842.2_Missense_Mutation_p.R5934L|DST_ENST00000370754.5_Missense_Mutation_p.R6438L|DST_ENST00000370769.4_Missense_Mutation_p.R6260L|DST_ENST00000244364.6_Missense_Mutation_p.R3846L|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R4063L			Q03001	DYST_HUMAN	dystonin	6149					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTGTCAATCCGGTCTTTCCA	0.413																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(13048-13050)CGG>CTG		dystonin isoform 2							68.0	65.0	66.0					6																	56371299		1922	4119	6041	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56371299C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18446G>T	6.37:g.56371299C>A	ENSP00000354508:p.Arg6149Leu					DST_uc003pcz.3_Missense_Mutation_p.R4172L|DST_uc011dxj.1_Missense_Mutation_p.R4201L|DST_uc011dxk.1_Missense_Mutation_p.R4212L|DST_uc003pcy.3_Missense_Mutation_p.R3846L	p.R4350L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		71	13077	-	Lung NSC(77;0.103)		6258			Spectrin 13.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.13049G>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.393651	0.83011	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.57	5.57	0.84162	.	0.000000	0.45867	D	0.000333	T	0.74306	0.3699	M	0.77313	2.365	0.35744	D	0.818887	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.991	T	0.76198	-0.3047	9	0.62326	D	0.03	.	19.5247	0.95199	0.0:1.0:0.0:0.0	.	4172;6260;6438;6258;3846	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	3846;6438;6260;4172;5934;4063;6149	ENSP00000244364:R3846L;ENSP00000359790:R6438L;ENSP00000359805:R6260L;ENSP00000400883:R4172L;ENSP00000393645:R5934L;ENSP00000359824:R4063L;ENSP00000354508:R6149L	ENSP00000244364:R3846L	R	-	2	0	DST	56479258	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	7.788000	0.85771	2.610000	0.88304	0.585000	0.79938	CGG		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	17	1	0	5.9392e-07	0.001168	6.67422e-07	4	17				
DST	667	broad.mit.edu	37	6	56400064	56400064	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:56400064C>A	ENST00000361203.3	-	59	16171	c.16164G>T	c.(16162-16164)caG>caT	p.Q5388H	DST_ENST00000421834.2_Missense_Mutation_p.Q3302H|DST_ENST00000446842.2_Missense_Mutation_p.Q5064H|DST_ENST00000370754.5_Missense_Mutation_p.Q5568H|DST_ENST00000370769.4_Missense_Mutation_p.Q5390H|DST_ENST00000244364.6_Missense_Mutation_p.Q2976H|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3302H			Q03001	DYST_HUMAN	dystonin	5388					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAAGGCCTCCTGCAGCTGGG	0.517																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10438-10440)CAG>CAT		dystonin isoform 2							46.0	50.0	49.0					6																	56400064		1961	4150	6111	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56400064C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16164G>T	6.37:g.56400064C>A	ENSP00000354508:p.Gln5388His					DST_uc003pcz.3_Missense_Mutation_p.Q3302H|DST_uc011dxj.1_Missense_Mutation_p.Q3331H|DST_uc011dxk.1_Missense_Mutation_p.Q3342H|DST_uc003pcy.3_Missense_Mutation_p.Q2976H	p.Q3480H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		57	10468	-	Lung NSC(77;0.103)		5388			Spectrin 7.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10440G>T		.	.	.	.	.	.	.	.	.	.	C	12.42	1.931180	0.34096	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.91	2.1	0.27182	.	0.000000	0.51477	D	0.000086	T	0.35970	0.0950	L	0.48877	1.53	0.26899	N	0.967152	D;P;P;B;B	0.76494	0.999;0.756;0.589;0.071;0.032	D;B;B;B;B	0.87578	0.998;0.401;0.201;0.038;0.234	T	0.28364	-1.0046	9	0.59425	D	0.04	.	9.3654	0.38221	0.0:0.6079:0.0:0.3921	.	3302;5390;5568;5388;2976	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	2976;5568;5390;3302;5064;3302;5388	ENSP00000244364:Q2976H;ENSP00000359790:Q5568H;ENSP00000359805:Q5390H;ENSP00000400883:Q3302H;ENSP00000393645:Q5064H;ENSP00000359824:Q3302H;ENSP00000354508:Q5388H	ENSP00000244364:Q2976H	Q	-	3	2	DST	56508023	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.353000	0.20130	0.820000	0.34516	0.650000	0.86243	CAG		0.517	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		22	33	1	0	8.10497e-08	0.010504	9.31847e-08	22	33				
BCKDHB	594	broad.mit.edu	37	6	80910666	80910666	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:80910666T>A	ENST00000320393.6	+	7	805	c.758T>A	c.(757-759)aTa>aAa	p.I253K	BCKDHB_ENST00000356489.5_Missense_Mutation_p.I253K|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	253					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GAAGTCCCTATAGAACCATAC	0.428																																							uc003pjd.2		NA																	0					0						c.(757-759)ATA>AAA		branched chain keto acid dehydrogenase E1 beta							107.0	99.0	102.0					6																	80910666		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80910666T>A	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.758T>A	6.37:g.80910666T>A	ENSP00000318351:p.Ile253Lys					BCKDHB_uc003pje.2_Missense_Mutation_p.I253K	p.I253K	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	7	825	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	253					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.758T>A	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	T	1.230	-0.624398	0.03636	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.96265	-3.96;-3.96	6.17	6.17	0.99709	.	0.345009	0.34435	N	0.003970	D	0.86896	0.6043	N	0.25031	0.7	0.58432	D	0.99999	B	0.06786	0.001	B	0.12156	0.007	T	0.83131	-0.0113	10	0.08381	T	0.77	-11.257	14.7743	0.69713	0.0:0.0:0.0:1.0	.	253	P21953	ODBB_HUMAN	K	253;253;183	ENSP00000318351:I253K;ENSP00000348880:I253K	ENSP00000318351:I253K	I	+	2	0	BCKDHB	80967385	0.993000	0.37304	0.027000	0.17364	0.004000	0.04260	4.156000	0.58138	2.371000	0.80710	0.533000	0.62120	ATA		0.428	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		13	49	0	0	0	0.003163	0	13	49				
IBTK	25998	broad.mit.edu	37	6	82927845	82927845	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:82927845A>T	ENST00000306270.7	-	10	1807	c.1258T>A	c.(1258-1260)Tgg>Agg	p.W420R	IBTK_ENST00000503631.1_Missense_Mutation_p.W420R|IBTK_ENST00000510291.1_Missense_Mutation_p.W420R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	420					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACTGATCTCCAGCAAAACACC	0.348																																							uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1258-1260)TGG>AGG		inhibitor of Bruton's tyrosine kinase							52.0	50.0	51.0					6																	82927845		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82927845A>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1258T>A	6.37:g.82927845A>T	ENSP00000305721:p.Trp420Arg					IBTK_uc011dyv.1_Missense_Mutation_p.W420R|IBTK_uc011dyw.1_Missense_Mutation_p.W420R|IBTK_uc010kbi.1_Missense_Mutation_p.W114R|IBTK_uc003pjm.2_Missense_Mutation_p.W420R	p.W420R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	10	1785	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	420					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1258T>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316025	0.81469	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.38240	1.15;1.41;1.17	5.64	5.64	0.86602	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.999	T	0.61637	-0.7022	10	0.72032	D	0.01	-6.4263	15.8671	0.79074	1.0:0.0:0.0:0.0	.	420;420;420;420	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	R	420	ENSP00000305721:W420R;ENSP00000422762:W420R;ENSP00000426405:W420R	ENSP00000305721:W420R	W	-	1	0	IBTK	82984564	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.654000	0.91092	2.148000	0.66965	0.460000	0.39030	TGG		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		14	21	0	0	0	0.003163	0	14	21				
FUT9	10690	broad.mit.edu	37	6	96651162	96651162	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:96651162C>T	ENST00000302103.5	+	3	457	c.131C>T	c.(130-132)gCc>gTc	p.A44V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATGGAATCAGCCAGCTCTGTG	0.403																																					Melanoma(98;1369 1476 6592 22940 26587)	Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(130-132)GCC>GTC		fucosyltransferase 9 (alpha (1,3)							92.0	88.0	90.0					6																	96651162		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651162C>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.131C>T	6.37:g.96651162C>T	ENSP00000302599:p.Ala44Val						p.A44V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	472	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	44			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.131C>T	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803166	0.31869	.	.	ENSG00000172461	ENST00000302103	T	0.23754	1.89	5.36	4.44	0.53790	.	0.393509	0.28376	N	0.015567	T	0.07098	0.0180	N	0.16656	0.425	0.40266	D	0.978232	B	0.10296	0.003	B	0.15052	0.012	T	0.10800	-1.0614	10	0.10902	T	0.67	-5.412	15.7812	0.78260	0.0:0.8641:0.1359:0.0	.	44	Q9Y231	FUT9_HUMAN	V	44	ENSP00000302599:A44V	ENSP00000302599:A44V	A	+	2	0	FUT9	96757883	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.550000	0.53691	2.663000	0.90544	0.655000	0.94253	GCC		0.403	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		6	62	0	0	0	0.001168	0	6	62				
ASCC3	10973	broad.mit.edu	37	6	101049771	101049771	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:101049771C>T	ENST00000369162.2	-	34	5562	c.5218G>A	c.(5218-5220)Gct>Act	p.A1740T		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1740					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTACCACCAGCAATCTCTGCA	0.383																																							uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5218-5220)GCT>ACT		activating signal cointegrator 1 complex subunit							146.0	142.0	143.0					6																	101049771		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101049771C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5218G>A	6.37:g.101049771C>T	ENSP00000358159:p.Ala1740Thr						p.A1740T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	34	5547	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1740					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5218G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852099	0.71719	.	.	ENSG00000112249	ENST00000369162	T	0.58652	0.32	5.74	5.74	0.90152	.	0.059016	0.64402	D	0.000003	T	0.43077	0.1231	L	0.58925	1.835	0.80722	D	1	P	0.37548	0.599	B	0.32465	0.146	T	0.42085	-0.9472	10	0.29301	T	0.29	.	19.9241	0.97098	0.0:1.0:0.0:0.0	.	1740	Q8N3C0	HELC1_HUMAN	T	1740	ENSP00000358159:A1740T	ENSP00000358159:A1740T	A	-	1	0	ASCC3	101156492	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.873000	0.63057	2.723000	0.93209	0.563000	0.77884	GCT		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		26	79	0	0	0	0.00632	0	26	79				
CDC40	51362	broad.mit.edu	37	6	110528759	110528759	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:110528759A>T	ENST00000368932.1	+	5	558	c.457A>T	c.(457-459)Att>Ttt	p.I153F	CDC40_ENST00000368930.1_Missense_Mutation_p.I153F|CDC40_ENST00000307731.1_Missense_Mutation_p.I153F			O60508	PRP17_HUMAN	cell division cycle 40	153					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TGCTAAATATATTGGTTCTGT	0.289																																							uc003pua.2		NA																	0					0						c.(457-459)ATT>TTT		cell division cycle 40 homolog							91.0	103.0	99.0					6																	110528759		2200	4290	6490	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110528759A>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.457A>T	6.37:g.110528759A>T	ENSP00000357928:p.Ile153Phe						p.I153F	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	4	481	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	153					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.457A>T	CCDS5081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.167201|5.167201	0.94768|0.94768	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.63096|.	0.13;-0.02;-0.02;0.13|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70570|0.70570	0.3239|0.3239	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.55172|.	0.97|.	P|.	0.55577|.	0.779|.	T|T	0.72404|0.72404	-0.4304|-0.4304	10|5	0.49607|.	T|.	0.09|.	-1.3052|-1.3052	16.2405|16.2405	0.82405|0.82405	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	153|.	O60508|.	PRP17_HUMAN|.	F|F	153;153;153;153;153;50|45	ENSP00000357928:I153F;ENSP00000357929:I153F;ENSP00000357926:I153F;ENSP00000304370:I153F|.	ENSP00000304370:I153F|.	I|Y	+|+	1|2	0|0	CDC40|CDC40	110635452|110635452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.910000|8.910000	0.92685|0.92685	2.238000|2.238000	0.73509|0.73509	0.477000|0.477000	0.44152|0.44152	ATT|TAT		0.289	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		7	83	0	0	0	0.00308	0	7	83				
CDC40	51362	broad.mit.edu	37	6	110533348	110533348	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:110533348A>G	ENST00000368932.1	+	8	841	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	CDC40_ENST00000368930.1_Missense_Mutation_p.Y247C|CDC40_ENST00000307731.1_Missense_Mutation_p.Y247C			O60508	PRP17_HUMAN	cell division cycle 40	247					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AAAGAAATGTATGACTATCAA	0.338																																							uc003pua.2		NA																	0					0						c.(739-741)TAT>TGT		cell division cycle 40 homolog							131.0	125.0	127.0					6																	110533348		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110533348A>G	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.740A>G	6.37:g.110533348A>G	ENSP00000357928:p.Tyr247Cys						p.Y247C	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	7	764	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	247					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.740A>G	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290102	0.80914	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.62232	0.19;0.04;0.04;0.19	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.72894	2.215	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	T	0.71862	-0.4464	10	0.49607	T	0.09	-4.4871	16.2055	0.82126	1.0:0.0:0.0:0.0	.	247	O60508	PRP17_HUMAN	C	247	ENSP00000357928:Y247C;ENSP00000357929:Y247C;ENSP00000357926:Y247C;ENSP00000304370:Y247C	ENSP00000304370:Y247C	Y	+	2	0	CDC40	110640041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.226000	0.72624	0.482000	0.46254	TAT		0.338	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		21	43	0	0	0	0.010504	0	21	43				
HDAC2	3066	broad.mit.edu	37	6	114279863	114279863	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:114279863C>A	ENST00000519065.1	-	3	609	c.233G>T	c.(232-234)cGg>cTg	p.R78L	HDAC2_ENST00000398283.2_Missense_Mutation_p.R172L|HDAC2_ENST00000519108.1_Missense_Mutation_p.R48L|HDAC2_ENST00000368632.2_Missense_Mutation_p.R48L			Q92769	HDAC2_HUMAN	histone deacetylase 2	78	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R172L(1)|p.R78L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TCTTATTGACCGTAGAAATTT	0.348																																							uc003pwd.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(514-516)CGG>CTG		histone deacetylase 2	Vorinostat(DB02546)						137.0	131.0	133.0					6																	114279863		1878	4131	6009	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114279863C>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.233G>T	6.37:g.114279863C>A	ENSP00000430432:p.Arg78Leu					HDAC2_uc003pwc.1_Missense_Mutation_p.R48L|HDAC2_uc003pwe.1_Missense_Mutation_p.R48L	p.R172L	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	3	515	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	78			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.515G>T	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288633	0.80914	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632;ENST00000425835;ENST00000523628;ENST00000521610;ENST00000522371;ENST00000521163;ENST00000518690;ENST00000523240;ENST00000520895;ENST00000524334	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.72	5.87	5.0	0.66597	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000008	T	0.67850	0.2937	M	0.70595	2.14	0.80722	D	1	P;P	0.42296	0.601;0.775	P;P	0.46362	0.492;0.514	T	0.73839	-0.3856	10	0.66056	D	0.02	-15.3153	15.1033	0.72299	0.0:0.9321:0.0:0.0679	.	48;78	B3KRS5;Q92769	.;HDAC2_HUMAN	L	78;172;48;48;68;48;48;48;85;48;48;48;48	ENSP00000430432:R78L;ENSP00000381331:R172L;ENSP00000430008:R48L;ENSP00000357621:R48L;ENSP00000417026:R68L;ENSP00000427861:R48L;ENSP00000429901:R48L;ENSP00000428599:R48L;ENSP00000428024:R85L;ENSP00000428653:R48L;ENSP00000429236:R48L;ENSP00000428861:R48L;ENSP00000428989:R48L	ENSP00000357621:R48L	R	-	2	0	HDAC2	114386556	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.996000	0.57009	1.487000	0.48415	0.650000	0.86243	CGG		0.348	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			28	98	1	0	8.16721e-17	0.002096	1.03252e-16	28	98				
SOGA3	387104	broad.mit.edu	37	6	127836062	127836062	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:127836062T>C	ENST00000525778.1	-	3	1977	c.1232A>G	c.(1231-1233)tAc>tGc	p.Y411C	SOGA3_ENST00000368268.2_Missense_Mutation_p.Y411C|SOGA3_ENST00000556132.1_Missense_Mutation_p.Y411C|SOGA3_ENST00000465909.2_Missense_Mutation_p.Y411C|SOGA3_ENST00000481848.2_Missense_Mutation_p.Y411C			Q5TF21	SOGA3_HUMAN	SOGA family member 3	411					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGGAGGCGGTACTGCAGGAT	0.602																																							uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1231-1233)TAC>TGC		hypothetical protein LOC387104 precursor							120.0	123.0	122.0					6																	127836062		2049	4222	6271	SO:0001583	missense	387104					integral to membrane		g.chr6:127836062T>C	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1232A>G	6.37:g.127836062T>C	ENSP00000434570:p.Tyr411Cys						p.Y411C	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	3	2097	-			411			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.1232A>G	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501110	0.85176	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74722	-0.3569	10	0.87932	D	0	-12.1244	16.2458	0.82445	0.0:0.0:0.0:1.0	.	411	Q5TF21	CF174_HUMAN	C	411	ENSP00000451768:Y411C;ENSP00000357251:Y411C;ENSP00000434570:Y411C;ENSP00000435559:Y411C	ENSP00000435559:Y411C	Y	-	2	0	C6orf174	127877755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	TAC		0.602	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		12	114	0	0	0	0.000978	0	12	114				
LAMA2	3908	broad.mit.edu	37	6	129835636	129835636	+	Missense_Mutation	SNP	G	G	A	rs371040858		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:129835636G>A	ENST00000421865.2	+	64	9156	c.9107G>A	c.(9106-9108)cGc>cAc	p.R3036H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3036	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCAAACACCGCATTGAGCTC	0.507																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(9106-9108)CGC>CAC		laminin alpha 2 subunit isoform a precursor							190.0	152.0	165.0					6																	129835636		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129835636G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9107G>A	6.37:g.129835636G>A	ENSP00000400365:p.Arg3036His					LAMA2_uc003qbo.2_Missense_Mutation_p.R3032H|uc003qbq.2_Intron	p.R3036H	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	63	9212	+			3036			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9107G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	8.053	0.766373	0.15983	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.78364	-1.17	5.59	0.682	0.17992	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.248970	0.45361	N	0.000370	T	0.59742	0.2216	M	0.80982	2.52	0.40274	D	0.978322	B;B	0.33171	0.4;0.4	B;B	0.26310	0.068;0.068	T	0.55515	-0.8129	9	.	.	.	.	9.9336	0.41537	0.3432:0.0:0.6568:0.0	.	3037;3036	A6NF00;P24043	.;LAMA2_HUMAN	H	3036;3035;3036;1054	ENSP00000400365:R3036H	.	R	+	2	0	LAMA2	129877329	0.783000	0.28701	0.040000	0.18447	0.062000	0.15995	0.924000	0.28777	-0.162000	0.10964	-0.767000	0.03436	CGC		0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			6	61	0	0	0	0.001984	0	6	61				
SAMD3	154075	broad.mit.edu	37	6	130530745	130530745	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:130530745T>C	ENST00000368134.2	-	7	886	c.278A>G	c.(277-279)gAt>gGt	p.D93G	SAMD3_ENST00000457563.2_Missense_Mutation_p.D117G|SAMD3_ENST00000439090.2_Missense_Mutation_p.D93G|SAMD3_ENST00000532763.1_Missense_Mutation_p.D91G|SAMD3_ENST00000324172.6_Missense_Mutation_p.D93G|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.D93G	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	93										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGACTCTTCATCCCTGTAACT	0.463																																							uc003qbv.2		NA																	0				ovary(1)	1						c.(277-279)GAT>GGT		sterile alpha motif domain containing 3 isoform							98.0	90.0	93.0					6																	130530745		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130530745T>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.278A>G	6.37:g.130530745T>C	ENSP00000357116:p.Asp93Gly					SAMD3_uc003qbx.2_Missense_Mutation_p.D93G|SAMD3_uc003qbw.2_Missense_Mutation_p.D93G|SAMD3_uc010kfg.1_Missense_Mutation_p.D93G|SAMD3_uc003qby.2_Missense_Mutation_p.D93G|SAMD3_uc003qbz.1_Missense_Mutation_p.D52G	p.D93G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	604	-			93					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.278A>G	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307721	0.10733	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.47528	0.85;0.84;0.85;0.85;0.93;0.86;0.86;0.86;0.86	5.63	3.15	0.36227	.	0.711166	0.13307	N	0.397793	T	0.21347	0.0514	L	0.54323	1.7	0.09310	N	1	B;P;B;B	0.49090	0.22;0.919;0.16;0.099	B;B;B;B	0.37550	0.058;0.253;0.088;0.04	T	0.03957	-1.0989	10	0.59425	D	0.04	.	8.4942	0.33119	0.3104:0.0:0.0:0.6896	.	117;93;93;93	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	G	93;117;93;93;91;93;93;93;91	ENSP00000357116:D93G;ENSP00000402092:D117G;ENSP00000403565:D93G;ENSP00000391163:D93G;ENSP00000436088:D91G;ENSP00000324874:D93G;ENSP00000436115:D93G;ENSP00000435875:D93G;ENSP00000434139:D91G	ENSP00000324874:D93G	D	-	2	0	SAMD3	130572438	0.000000	0.05858	0.010000	0.14722	0.095000	0.18619	0.677000	0.25262	0.462000	0.27095	0.533000	0.62120	GAT		0.463	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		17	20	0	0	0	0.00499	0	17	20				
VTA1	51534	broad.mit.edu	37	6	142539636	142539636	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:142539636G>A	ENST00000367630.4	+	8	838	c.780G>A	c.(778-780)ggG>ggA	p.G260G	VTA1_ENST00000367621.1_Splice_Site_p.G202G|VTA1_ENST00000452973.2_Splice_Site_p.G175G	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	260	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTCTTCTAGGGGATGTTCGTC	0.368																																							uc003qiw.2		NA																	0					0						c.(778-780)GGG>GGA		Vps20-associated 1 homolog							61.0	60.0	61.0					6																	142539636		2203	4300	6503	SO:0001630	splice_region_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142539636G>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.779-1G>A	6.37:g.142539636G>A						VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Silent_p.G175G	p.G260G	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	8	795	+	Breast(32;0.155)		260			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	ENST00000367630.4	37	c.780G>A	CCDS5197.1																																																																																				0.368	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485	Silent	9	28	0	0	0	0.008291	0	9	28				
RAB32	10981	broad.mit.edu	37	6	146870795	146870795	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:146870795A>G	ENST00000367495.3	+	2	625	c.446A>G	c.(445-447)aAg>aGg	p.K149R		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	149					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GACCAGAACAAGGACAGTAGC	0.463																																							uc003qln.1		NA																	0					0						c.(445-447)AAG>AGG		RAB32, member RAS oncogene family							88.0	83.0	84.0					6																	146870795		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146870795A>G	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.446A>G	6.37:g.146870795A>G	ENSP00000356465:p.Lys149Arg						p.K149R	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	2	626	+		Ovarian(120;0.142)	149						Missense_Mutation	SNP	ENST00000367495.3	37	c.446A>G	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.599597	0.28534	.	.	ENSG00000118508	ENST00000367495	T	0.79653	-1.29	5.7	-2.46	0.06461	Small GTP-binding protein domain (1);	0.237089	0.48767	N	0.000170	T	0.42854	0.1221	N	0.16037	0.36	0.49213	D	0.999766	B	0.10296	0.003	B	0.21151	0.033	T	0.08126	-1.0737	10	0.35671	T	0.21	-7.9112	8.2573	0.31765	0.7414:0.0:0.1493:0.1093	.	149	Q13637	RAB32_HUMAN	R	149	ENSP00000356465:K149R	ENSP00000356465:K149R	K	+	2	0	RAB32	146912488	0.999000	0.42202	0.005000	0.12908	0.588000	0.36517	2.007000	0.40883	-0.617000	0.05664	-0.285000	0.09966	AAG		0.463	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		18	58	0	0	0	0.006122	0	18	58				
STXBP5	134957	broad.mit.edu	37	6	147635025	147635025	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:147635025C>A	ENST00000321680.6	+	12	1151	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	STXBP5_ENST00000179882.6_Missense_Mutation_p.P55H|STXBP5_ENST00000367481.3_Missense_Mutation_p.P384H|STXBP5_ENST00000367480.3_Missense_Mutation_p.P384H	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	384					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAAAGATATCCTATATTTGAA	0.279																																							uc003qlz.2		NA																	0					0						c.(1150-1152)CCT>CAT		syntaxin binding protein 5 (tomosyn) isoform b							61.0	62.0	62.0					6																	147635025		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147635025C>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1151C>A	6.37:g.147635025C>A	ENSP00000321826:p.Pro384His					STXBP5_uc010khz.1_Missense_Mutation_p.P384H|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.P55H	p.P384H	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	12	1312	+		Ovarian(120;0.0164)	384					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1151C>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826985	0.90955	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.18657	2.75;2.75;2.2;2.58	5.88	5.88	0.94601	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.55724	-0.8096	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	384;384;55	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	H	384;384;384;55	ENSP00000356451:P384H;ENSP00000321826:P384H;ENSP00000356450:P384H;ENSP00000179882:P55H	ENSP00000179882:P55H	P	+	2	0	STXBP5	147676718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.780000	0.95670	0.655000	0.94253	CCT		0.279	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			5	30	1	0	1.23904e-05	0.000602	1.35089e-05	5	30				
SASH1	23328	broad.mit.edu	37	6	148869642	148869642	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:148869642T>G	ENST00000367467.3	+	20	4167	c.3692T>G	c.(3691-3693)cTc>cGc	p.L1231R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1231	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATAAGAAAGCTCCTATCTGCA	0.587																																							uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(3691-3693)CTC>CGC		SAM and SH3 domain containing 1							64.0	70.0	68.0					6																	148869642		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148869642T>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3692T>G	6.37:g.148869642T>G	ENSP00000356437:p.Leu1231Arg					SASH1_uc003qmf.1_Missense_Mutation_p.L641R	p.L1231R	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	20	4167	+		Ovarian(120;0.0169)	1231			SAM 2.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3692T>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404106	0.83230	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	D	0.88201	-2.35	5.36	5.36	0.76844	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93885	0.7174	10	0.87932	D	0	-21.1733	15.3682	0.74541	0.0:0.0:0.0:1.0	.	1231	O94885	SASH1_HUMAN	R	1231;641	ENSP00000356437:L1231R	ENSP00000356437:L1231R	L	+	2	0	SASH1	148911335	1.000000	0.71417	0.924000	0.36721	0.996000	0.88848	7.081000	0.76844	2.040000	0.60383	0.533000	0.62120	CTC		0.587	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		15	55	0	0	0	0.003163	0	15	55				
TIAM2	26230	broad.mit.edu	37	6	155465914	155465914	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:155465914T>C	ENST00000461783.3	+	8	3076		c.e8+2		TIAM2_ENST00000367174.2_Splice_Site|TIAM2_ENST00000529824.2_Splice_Site|TIAM2_ENST00000456144.1_Splice_Site|TIAM2_ENST00000360366.4_Splice_Site|TIAM2_ENST00000318981.5_Splice_Site			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTTCCAGGTACTGCTGGTA	0.393																																							uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.e8+2		T-cell lymphoma invasion and metastasis 2							140.0	136.0	137.0					6																	155465914		2203	4300	6503	SO:0001630	splice_region_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155465914T>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1803+2T>C	6.37:g.155465914T>C						TIAM2_uc003qqe.2_Splice_Site_p.Q601_splice|TIAM2_uc010kjj.2_Splice_Site_p.Q134_splice	p.Q601_splice	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	8	3076	+		Ovarian(120;0.196)						B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Splice_Site	SNP	ENST00000461783.3	37	c.1803_splice	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798058	0.50208	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7961	0.78412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIAM2	155507606	1.000000	0.71417	0.939000	0.37840	0.358000	0.29455	7.642000	0.83385	2.131000	0.65755	0.533000	0.62120	.		0.393	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	Intron	17	82	0	0	0	0.008871	0	17	82				
FNDC1	84624	broad.mit.edu	37	6	159653935	159653935	+	Silent	SNP	C	C	T	rs201525669	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:159653935C>T	ENST00000297267.9	+	11	2591	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	FNDC1_ENST00000340366.6_Silent_p.G734G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	797					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAAGACGGCGGAAGGCAGG	0.637													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		15412	0.0		0.001	False		,,,				2504	0.0						uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2389-2391)GGC>GGT		fibronectin type III domain containing 1		C		1,4039		0,1,2019	24.0	26.0	25.0		2391	-2.1	0.0	6		25	8,8326		0,8,4159	no	coding-synonymous	FNDC1	NM_032532.2		0,9,6178	TT,TC,CC		0.096,0.0248,0.0727		797/1895	159653935	9,12365	2020	4167	6187	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653935C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2391C>T	6.37:g.159653935C>T						FNDC1_uc010kjw.1_Silent_p.G682G	p.G797G	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2591	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	797					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2391C>T	CCDS47512.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	5.679	0.309878	0.10733	2.48E-4	9.6E-4	ENSG00000164694	ENST00000329629	.	.	.	5.1	-2.06	0.07298	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35574	-0.9783	4	.	.	.	1.9488	0.6989	0.00904	0.4366:0.1752:0.1883:0.1999	.	.	.	.	W	693	.	.	R	+	1	2	FNDC1	159573925	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.378000	0.07446	-0.431000	0.07307	-0.181000	0.13052	CGG		0.637	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	16	0	0	0	0.004672	0	3	16				
PNLDC1	154197	broad.mit.edu	37	6	160238159	160238159	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:160238159A>G	ENST00000610273.1	+	15	1271	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R	PNLDC1_ENST00000392167.3_Missense_Mutation_p.H378R	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	367						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAAGTGGCACACTTGCTTCTA	0.393																																							uc003qsx.1		NA																	0					0						c.(1099-1101)CAC>CGC		poly(A)-specific ribonuclease (PARN)-like domain							220.0	200.0	207.0					6																	160238159		2203	4298	6501	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160238159A>G	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1100A>G	6.37:g.160238159A>G	ENSP00000476448:p.His367Arg					PNLDC1_uc003qsy.1_Missense_Mutation_p.H378R	p.H367R	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	15	1271	+		Breast(66;0.00519)|Ovarian(120;0.123)	367			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1100A>G	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795697	0.50208	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000003	T	0.52645	0.1747	L	0.29908	0.895	0.45528	D	0.998481	D;D	0.89917	0.999;1.0	D;D	0.85130	0.975;0.997	T	0.51490	-0.8699	9	0.23891	T	0.37	.	13.3537	0.60615	1.0:0.0:0.0:0.0	.	378;367	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	R	367;378	.	ENSP00000275275:H367R	H	+	2	0	PNLDC1	160158149	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	5.018000	0.64054	2.038000	0.60285	0.533000	0.62120	CAC		0.393	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		8	53	0	0	0	0.006214	0	8	53				
LPA	4018	broad.mit.edu	37	6	160999570	160999570	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:160999570C>A	ENST00000316300.5	-	27	4500	c.4456G>T	c.(4456-4458)Gct>Tct	p.A1486S	LPA_ENST00000447678.1_Missense_Mutation_p.A1486S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3994	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCAGAAGGAGCCTCTGTGCTT	0.483																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4456-4458)GCT>TCT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						145.0	152.0	150.0					6																	160999570		2029	4215	6244	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999570C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4456G>T	6.37:g.160999570C>A	ENSP00000321334:p.Ala1486Ser						p.A1486S	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4576	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3994			Kringle 35.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4456G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	11.11	1.543680	0.27563	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.86865	-2.18;-2.18	2.37	-2.25	0.06888	Kringle (1);	.	.	.	.	T	0.76126	0.3944	L	0.43152	1.355	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.68150	-0.5485	9	0.36615	T	0.2	.	4.4383	0.11561	0.0:0.2808:0.1824:0.5368	.	3994	P08519	APOA_HUMAN	S	1486	ENSP00000321334:A1486S;ENSP00000395608:A1486S	ENSP00000321334:A1486S	A	-	1	0	LPA	160919560	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-1.381000	0.02549	-0.485000	0.06754	0.174000	0.16983	GCT		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		30	81	1	0	1.06801e-11	0.009535	1.29874e-11	30	81				
MAP3K4	4216	broad.mit.edu	37	6	161519335	161519335	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:161519335C>T	ENST00000392142.4	+	17	3698	c.3550C>T	c.(3550-3552)Cgg>Tgg	p.R1184W	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1180W|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1184					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCCGACGCGCGGAGCCATGG	0.547																																							uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3550-3552)CGG>TGG		mitogen-activated protein kinase kinase kinase 4							124.0	132.0	129.0					6																	161519335		2203	4299	6502	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519335C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3550C>T	6.37:g.161519335C>T	ENSP00000375986:p.Arg1184Trp					MAP3K4_uc010kkc.1_Missense_Mutation_p.R1180W|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.R637W|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank	p.R1184W	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3692	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1184					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3550C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899709	0.72754	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.72282	-0.63;-0.64	5.61	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.67011	0.2848	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67231	0.95;0.893	T	0.73861	-0.3849	10	0.87932	D	0	-18.8621	12.763	0.57376	0.0:0.9245:0.0:0.0755	.	1180;1184	F5H538;Q9Y6R4	.;M3K4_HUMAN	W	1184;1180	ENSP00000375986:R1184W;ENSP00000355887:R1180W	ENSP00000355887:R1180W	R	+	1	2	MAP3K4	161439325	1.000000	0.71417	0.994000	0.49952	0.654000	0.38779	5.732000	0.68563	1.361000	0.45981	0.650000	0.86243	CGG		0.547	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			37	188	0	0	0	0.00623	0	37	188				
PARK2	5071	broad.mit.edu	37	6	162206910	162206910	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:162206910G>A	ENST00000366898.1	-	7	867	c.765C>T	c.(763-765)tcC>tcT	p.S255S	PARK2_ENST00000338468.3_Silent_p.S64S|PARK2_ENST00000366896.1_Silent_p.S106S|PARK2_ENST00000366894.1_Silent_p.S64S|PARK2_ENST00000366892.1_Silent_p.S255S|PARK2_ENST00000366897.1_Silent_p.S227S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	255					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCACGTGGCGGGAGTTGCACT	0.502																																							uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(763-765)TCC>TCT		parkin isoform 1							77.0	67.0	71.0					6																	162206910		2203	4300	6503	SO:0001819	synonymous_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162206910G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.765C>T	6.37:g.162206910G>A						PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Silent_p.S64S|PARK2_uc003qtw.3_Silent_p.S64S|PARK2_uc003qty.3_Silent_p.S227S|PARK2_uc003qtz.3_Silent_p.S106S|PARK2_uc010kke.1_Silent_p.S255S|PARK2_uc011egf.1_5'UTR	p.S255S	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	7	899	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	255			RING-type 1; atypical.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.765C>T	CCDS5281.1																																																																																				0.502	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			5	22	0	0	0	0.001168	0	5	22				
HEATR2	54919	broad.mit.edu	37	7	769461	769461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:769461C>T	ENST00000297440.6	+	2	777	c.757C>T	c.(757-759)Cga>Tga	p.R253*	PRKAR1B_ENST00000403562.1_5'Flank|PRKAR1B_ENST00000537384.1_5'Flank|PRKAR1B_ENST00000488474.1_5'Flank|HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Nonsense_Mutation_p.R253*	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	253						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTTTGCTCAGCGACTGTTTGA	0.547																																							uc010krz.1		NA																	0				skin(1)	1						c.(757-759)CGA>TGA		HEAT repeat containing 2							134.0	113.0	120.0					7																	769461		2203	4300	6503	SO:0001587	stop_gained	54919						protein binding	g.chr7:769461C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.757C>T	7.37:g.769461C>T	ENSP00000297440:p.Arg253*					PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Nonsense_Mutation_p.R121*	p.R253*	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	2	777	+		Ovarian(82;0.0112)	253			HEAT 3.		Q69YL1|Q96FI9|Q9NX75	Nonsense_Mutation	SNP	ENST00000297440.6	37	c.757C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.397252|5.397252	0.96009|0.96009	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147	.|.	.|.	.|.	5.19|5.19	1.81|1.81	0.25067|0.25067	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|.	0.35307|.	0.0927|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35624|.	-0.9781|.	3|.	.|0.02654	.|T	.|1	-40.5208|-40.5208	16.0048|16.0048	0.80354|0.80354	0.5233:0.4767:0.0:0.0|0.5233:0.4767:0.0:0.0	.|.	.|.	.|.	.|.	V|X	54|253	.|.	.|ENSP00000297440:R253X	A|R	+|+	2|1	0|2	HEATR2|HEATR2	735987|735987	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.772000|0.772000	0.43724|0.43724	1.258000|1.258000	0.32944|0.32944	0.497000|0.497000	0.27926|0.27926	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.547	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		10	49	0	0	0	0.001368	0	10	49				
SNX8	29886	broad.mit.edu	37	7	2311559	2311559	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:2311559C>T	ENST00000222990.3	-	4	508	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	156	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		ACCAGGTTGACGAAGCGCTTC	0.642																																							uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(466-468)GTC>ATC		sorting nexin 8							92.0	69.0	77.0					7																	2311559		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2311559C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.466G>A	7.37:g.2311559C>T	ENSP00000222990:p.Val156Ile						p.V156I	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	4	509	-		Ovarian(82;0.11)	156			PX.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.466G>A	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766267	0.15983	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336	T;T;T;T	0.33654	1.4;1.4;1.6;1.4	5.01	3.87	0.44632	Phox homologous domain (5);	0.169565	0.50627	N	0.000112	T	0.15219	0.0367	N	0.03281	-0.365	0.22096	N	0.999368	B	0.12630	0.006	B	0.12837	0.008	T	0.16778	-1.0391	10	0.30854	T	0.27	.	7.1432	0.25568	0.0:0.182:0.0:0.818	.	156	Q9Y5X2	SNX8_HUMAN	I	156;142;103;103	ENSP00000222990:V156I;ENSP00000392437:V142I;ENSP00000406954:V103I;ENSP00000406212:V103I	ENSP00000222990:V156I	V	-	1	0	SNX8	2278085	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	1.366000	0.34193	0.760000	0.33108	-0.302000	0.09304	GTC		0.642	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			11	39	0	0	0	0.008291	0	11	39				
LFNG	3955	broad.mit.edu	37	7	2565886	2565886	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:2565886A>G	ENST00000222725.5	+	6	850	c.830A>G	c.(829-831)cAc>cGc	p.H277R	LFNG_ENST00000338732.3_Missense_Mutation_p.H148R|LFNG_ENST00000402506.1_Missense_Mutation_p.H206R|LFNG_ENST00000359574.3_Missense_Mutation_p.H277R|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.H148R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	277					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCGGGGGTCACTTCATGAAT	0.677																																							uc003smf.2		NA																	0					0						c.(829-831)CAC>CGC		lunatic fringe isoform a							60.0	66.0	64.0					7																	2565886		2202	4299	6501	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565886A>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.830A>G	7.37:g.2565886A>G	ENSP00000222725:p.His277Arg					LFNG_uc003smg.2_Missense_Mutation_p.H277R	p.H277R	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	6	847	+		Ovarian(82;0.0112)	277			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.830A>G	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	A	6.298	0.423045	0.11928	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.7	3.54	0.40534	.	0.048501	0.85682	D	0.000000	T	0.43678	0.1258	L	0.31371	0.925	0.54753	D	0.999984	P;B	0.49783	0.928;0.009	P;B	0.45794	0.493;0.03	T	0.27226	-1.0080	10	0.08599	T	0.76	-1.3429	10.0466	0.42190	0.9198:0.0:0.0802:0.0	.	277;277	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	R	206;148;148;277;277	ENSP00000385764:H206R;ENSP00000384786:H148R;ENSP00000343095:H148R;ENSP00000222725:H277R;ENSP00000352579:H277R	ENSP00000222725:H277R	H	+	2	0	LFNG	2532412	1.000000	0.71417	0.997000	0.53966	0.286000	0.27126	8.700000	0.91322	0.651000	0.30788	0.459000	0.35465	CAC		0.677	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		32	41	0	0	0	0.002836	0	32	41				
WIPI2	26100	broad.mit.edu	37	7	5265457	5265457	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5265457C>T	ENST00000288828.4	+	9	976	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WIPI2_ENST00000382384.2_Silent_p.C230C|WIPI2_ENST00000401525.3_Silent_p.C230C|WIPI2_ENST00000484262.1_Silent_p.C189C|WIPI2_ENST00000404704.3_Silent_p.C248C	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	248					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCCCCAGGTGCGTGAGCATCT	0.617																																							uc003snv.2		NA																	0				ovary(2)	2						c.(742-744)TGC>TGT		WD repeat domain, phosphoinositide interacting 2							53.0	44.0	47.0					7																	5265457		2203	4300	6503	SO:0001819	synonymous_variant	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5265457C>T		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.744C>T	7.37:g.5265457C>T						WIPI2_uc003snw.2_Silent_p.C248C|WIPI2_uc003snx.2_Silent_p.C230C|WIPI2_uc003sny.2_Silent_p.C230C|WIPI2_uc010ksv.2_Silent_p.C104C|WIPI2_uc003soa.2_Silent_p.C189C|WIPI2_uc003sob.2_5'UTR	p.C248C	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	9	960	+		Ovarian(82;0.0175)	248			WD 2.		B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	c.744C>T	CCDS5339.1																																																																																				0.617	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		6	14	0	0	0	0.001168	0	6	14				
FBXL18	80028	broad.mit.edu	37	7	5541135	5541135	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5541135G>A	ENST00000382368.3	-	3	888	c.765C>T	c.(763-765)agC>agT	p.S255S	FBXL18_ENST00000453700.3_Silent_p.S255S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	255									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGTGCGGTCGCTAAGCACAG	0.652																																							uc003soo.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(763-765)AGC>AGT		F-box and leucine-rich repeat protein 18							38.0	46.0	43.0					7																	5541135		2116	4217	6333	SO:0001819	synonymous_variant	80028							g.chr7:5541135G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.765C>T	7.37:g.5541135G>A						FBXL18_uc003son.3_Silent_p.S255S	p.S255S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	859	-		Ovarian(82;0.0607)	255					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.765C>T	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	G	2.373	-0.343924	0.05208	.	.	ENSG00000155034	ENST00000458142	.	.	.	5.44	-4.21	0.03812	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	.	11.221	0.48855	0.5341:0.0:0.3839:0.082	.	.	.	.	V	139	.	.	A	-	2	0	FBXL18	5507661	0.311000	0.24536	0.828000	0.32881	0.582000	0.36321	-0.353000	0.07691	-1.163000	0.02793	-0.797000	0.03246	GCG		0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		4	27	0	0	0	0.009096	0	4	27				
ACTB	60	broad.mit.edu	37	7	5568949	5568949	+	Missense_Mutation	SNP	T	T	C	rs11546912		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5568949T>C	ENST00000331789.5	-	3	397	c.206A>G	c.(205-207)tAc>tGc	p.Y69C	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	69					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCGATGGGGTACTTCAGGGT	0.587																																							uc003sos.3		NA																	0					0						c.(205-207)TAC>TGC		beta actin							75.0	75.0	75.0					7																	5568949		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568949T>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.206A>G	7.37:g.5568949T>C	ENSP00000349960:p.Tyr69Cys					ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.Y69C|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	p.Y69C	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	2	242	-		Ovarian(82;0.0606)	69					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.206A>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565463	0.45694	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.97529	-4.42;-4.42;-3.5;-3.5;-3.5	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000034	D	0.98658	0.9550	M	0.93062	3.375	0.49483	D	0.999793	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	10	0.87932	D	0	.	12.6926	0.56982	0.0:0.0:0.0:1.0	rs11546912	69	P60709	ACTB_HUMAN	C	69;69;69;69;72;69	ENSP00000349960:Y69C;ENSP00000407473:Y69C;ENSP00000393951:Y69C;ENSP00000399487:Y72C;ENSP00000401032:Y69C	ENSP00000349960:Y69C	Y	-	2	0	ACTB	5535475	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.816000	0.86201	1.875000	0.54330	0.460000	0.39030	TAC		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		14	104	0	0	0	0.004007	0	14	104				
RNF216	54476	broad.mit.edu	37	7	5769176	5769176	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5769176G>A	ENST00000425013.2	-	7	1329	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	RNF216_ENST00000389902.3_Missense_Mutation_p.R426C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	369					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATGAAGCAGCGCTGGTCAAGA	0.478																																							uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(1105-1107)CGC>TGC		ring finger protein 216 isoform b							93.0	86.0	88.0					7																	5769176		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5769176G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1105C>T	7.37:g.5769176G>A	ENSP00000404602:p.Arg369Cys					RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_5'UTR|RNF216_uc011jwj.1_5'UTR|RNF216_uc003sox.1_Missense_Mutation_p.R426C	p.R369C	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	7	1295	-		Ovarian(82;0.07)	369					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1105C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572888	0.86542	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51817	0.72;0.69	5.56	5.56	0.83823	.	0.075055	0.56097	D	0.000027	T	0.52789	0.1756	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.76494	0.99;0.999	P;P	0.59424	0.609;0.857	T	0.57573	-0.7788	10	0.87932	D	0	-10.7949	18.9132	0.92494	0.0:0.0:1.0:0.0	.	369;426	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	C	369;426;181	ENSP00000404602:R369C;ENSP00000374552:R426C	ENSP00000374552:R426C	R	-	1	0	RNF216	5735702	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.432000	0.52824	2.783000	0.95769	0.655000	0.94253	CGC		0.478	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		15	81	0	0	0	0.006122	0	15	81				
BZW2	28969	broad.mit.edu	37	7	16744220	16744220	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:16744220A>G	ENST00000433922.2	+	11	1335	c.1157A>G	c.(1156-1158)cAt>cGt	p.H386R	BZW2_ENST00000405202.1_Missense_Mutation_p.H310R|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.H386R|BZW2_ENST00000407633.1_Missense_Mutation_p.H192R	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	386	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAGGAAGCACATGTTGCTAAA	0.328																																							uc003stl.2		NA																	0				ovary(2)	2						c.(1156-1158)CAT>CGT		basic leucine zipper and W2 domains 2							106.0	107.0	107.0					7																	16744220		2203	4299	6502	SO:0001583	missense	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16744220A>G	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1157A>G	7.37:g.16744220A>G	ENSP00000397249:p.His386Arg					BZW2_uc003stm.2_Missense_Mutation_p.H192R|BZW2_uc003stj.2_Missense_Mutation_p.H386R|BZW2_uc003stk.2_Missense_Mutation_p.H310R|BZW2_uc003stp.2_Missense_Mutation_p.H234R|BZW2_uc010kua.2_Intron	p.H386R	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	11	1335	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		386			W2.		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.1157A>G	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460936	0.84317	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.92	5.92	0.95590	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	M	0.83603	2.65	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.89154	0.3525	10	0.33940	T	0.23	0.1344	16.3678	0.83341	1.0:0.0:0.0:0.0	.	386	Q9Y6E2	BZW2_HUMAN	R	386;386;386;310;192	ENSP00000403481:H386R;ENSP00000258761:H386R;ENSP00000397249:H386R;ENSP00000385577:H310R;ENSP00000384617:H192R	ENSP00000258761:H386R	H	+	2	0	BZW2	16710745	1.000000	0.71417	0.757000	0.31301	0.902000	0.53008	9.339000	0.96797	2.254000	0.74563	0.528000	0.53228	CAT		0.328	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		7	43	0	0	0	0.001984	0	7	43				
PRPS1L1	221823	broad.mit.edu	37	7	18066925	18066925	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:18066925C>G	ENST00000506618.2	-	1	561	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	161					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTCTTCCACTCAGGGATATTC	0.443																																							uc003stz.2		NA																	0				ovary(1)	1						c.(481-483)GAG>CAG		phosphoribosyl pyrophosphate synthetase 1-like							100.0	97.0	98.0					7																	18066925		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066925C>G	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.481G>C	7.37:g.18066925C>G	ENSP00000424595:p.Glu161Gln						p.E161Q	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	562	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		161					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.481G>C	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680547	0.29872	.	.	ENSG00000229937	ENST00000506618	D	0.91464	-2.85	4.62	1.69	0.24217	Phosphoribosyltransferase (1);	.	.	.	.	D	0.82614	0.5075	N	0.26130	0.795	.	.	.	B	0.09022	0.002	B	0.15484	0.013	T	0.76454	-0.2953	8	0.40728	T	0.16	.	8.1643	0.31217	0.0:0.6143:0.2997:0.086	.	161	P21108	PRPS3_HUMAN	Q	161	ENSP00000424595:E161Q	ENSP00000424595:E161Q	E	-	1	0	PRPS1L1	18033450	0.998000	0.40836	0.071000	0.20095	0.960000	0.62799	4.287000	0.59001	0.242000	0.21303	0.650000	0.86243	GAG		0.443	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		18	65	0	0	0	0.006122	0	18	65				
FERD3L	222894	broad.mit.edu	37	7	19184928	19184928	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:19184928G>T	ENST00000275461.3	-	1	116	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	20					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCCAGGGACAGGTCTGCGACG	0.672																																							uc003suo.1		NA																	0				large_intestine(1)	1						c.(58-60)CTG>ATG		nephew of atonal 3							36.0	35.0	35.0					7																	19184928		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184928G>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.58C>A	7.37:g.19184928G>T	ENSP00000275461:p.Leu20Met					uc003sun.1_RNA	p.L20M	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	117	-			20					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.58C>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796928	0.50208	.	.	ENSG00000146618	ENST00000275461	D	0.97430	-4.38	5.66	3.62	0.41486	.	0.482456	0.17520	N	0.171273	D	0.92371	0.7579	L	0.27053	0.805	0.30118	N	0.805941	P	0.43431	0.807	B	0.39217	0.294	D	0.88936	0.3376	10	0.62326	D	0.03	-4.2079	6.4103	0.21688	0.1821:0.0:0.6786:0.1392	.	20	Q96RJ6	FER3L_HUMAN	M	20	ENSP00000275461:L20M	ENSP00000275461:L20M	L	-	1	2	FERD3L	19151453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.325000	0.33724	0.571000	0.29365	0.650000	0.86243	CTG		0.672	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			12	36	1	0	2.80697e-09	0.000978	3.29422e-09	12	36				
ITGB8	3696	broad.mit.edu	37	7	20420306	20420306	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:20420306G>C	ENST00000222573.4	+	5	1337	c.653G>C	c.(652-654)tGc>tCc	p.C218S	ITGB8_ENST00000537992.1_Missense_Mutation_p.C83S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	218	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTTAGACTGCATGCCTCCC	0.378																																							uc003suu.2		NA																	0				skin(3)	3						c.(652-654)TGC>TCC		integrin, beta 8 precursor							104.0	100.0	101.0					7																	20420306		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420306G>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.653G>C	7.37:g.20420306G>C	ENSP00000222573:p.Cys218Ser					ITGB8_uc011jyh.1_Missense_Mutation_p.C83S|ITGB8_uc003sut.2_Missense_Mutation_p.C218S	p.C218S	NM_002214	NP_002205	P26012	ITB8_HUMAN			5	1358	+			218			VWFA.|Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.653G>C	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400302	0.83120	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.94457	-3.43;-3.43	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96924	0.9676	10	0.87932	D	0	-13.0897	20.6593	0.99626	0.0:0.0:1.0:0.0	.	218;218	P26012;Q9BUG9	ITB8_HUMAN;.	S	83;218	ENSP00000441561:C83S;ENSP00000222573:C218S	ENSP00000222573:C218S	C	+	2	0	ITGB8	20386831	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.761000	0.85260	2.885000	0.99019	0.655000	0.94253	TGC		0.378	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		8	82	0	0	0	0.006214	0	8	82				
DNAH11	8701	broad.mit.edu	37	7	21609753	21609753	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:21609753C>G	ENST00000409508.3	+	7	1292	c.1261C>G	c.(1261-1263)Cag>Gag	p.Q421E	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q421E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	421	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAAAGGTGCAGGTGGCTGT	0.393									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1261-1263)CAG>GAG		dynein, axonemal, heavy chain 11							73.0	71.0	71.0					7																	21609753		1823	4080	5903	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21609753C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1261C>G	7.37:g.21609753C>G	ENSP00000475939:p.Gln421Glu						p.Q421E	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			7	1292	+			421			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1261C>G		.	.	.	.	.	.	.	.	.	.	C	10.11	1.259349	0.23051	.	.	ENSG00000105877	ENST00000328843	T	0.55234	0.53	5.89	5.89	0.94794	Dynein heavy chain, domain-1 (1);	0.134911	0.50627	D	0.000101	T	0.51329	0.1668	L	0.56340	1.77	0.48341	D	0.999636	P	0.48407	0.91	P	0.45071	0.468	T	0.48636	-0.9018	10	0.06236	T	0.91	.	19.0242	0.92926	0.0:1.0:0.0:0.0	.	421	Q96DT5	DYH11_HUMAN	E	421	ENSP00000330671:Q421E	ENSP00000330671:Q421E	Q	+	1	0	DNAH11	21576278	0.994000	0.37717	1.000000	0.80357	0.436000	0.31835	1.209000	0.32357	2.788000	0.95919	0.557000	0.71058	CAG		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	21	0	0	0	0.001168	0	6	21				
STK31	56164	broad.mit.edu	37	7	23809301	23809301	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:23809301G>A	ENST00000355870.3	+	13	1758	c.1639G>A	c.(1639-1641)Gca>Aca	p.A547T	STK31_ENST00000433467.2_Missense_Mutation_p.A547T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.A524T|STK31_ENST00000354639.3_Missense_Mutation_p.A524T	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	547						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCAGAAGACGCAATGGATAA	0.353																																							uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1639-1641)GCA>ACA		serine/threonine kinase 31 isoform a							184.0	179.0	181.0					7																	23809301		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23809301G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1639G>A	7.37:g.23809301G>A	ENSP00000348132:p.Ala547Thr					STK31_uc003swt.3_Missense_Mutation_p.A524T|STK31_uc011jze.1_Missense_Mutation_p.A547T|STK31_uc010kuq.2_Missense_Mutation_p.A524T	p.A547T	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			13	1706	+			547					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1639G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	1.745	-0.490678	0.04322	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.69040	-0.37;1.35;-0.37;-0.37	5.27	-0.699	0.11277	.	0.464107	0.22221	N	0.062948	T	0.25082	0.0609	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38067	-0.9678	10	0.22109	T	0.4	-0.1934	7.047	0.25050	0.7066:0.1272:0.1663:0.0	.	547;547	B4DZ06;Q9BXU1	.;STK31_HUMAN	T	547;547;524;524	ENSP00000348132:A547T;ENSP00000411852:A547T;ENSP00000346660:A524T;ENSP00000406146:A524T	ENSP00000346660:A524T	A	+	1	0	STK31	23775826	0.822000	0.29219	0.276000	0.24689	0.011000	0.07611	0.517000	0.22832	0.256000	0.21614	-0.436000	0.05848	GCA		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		51	93	0	0	0	0.00361	0	51	93				
MPP6	51678	broad.mit.edu	37	7	24727207	24727207	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:24727207T>C	ENST00000222644.5	+	12	1847	c.1597T>C	c.(1597-1599)Tgg>Cgg	p.W533R	MPP6_ENST00000409761.1_Missense_Mutation_p.W421R|MPP6_ENST00000396475.2_Missense_Mutation_p.W533R			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGAACCACAGTGGGTCCCAAT	0.343																																							uc003swx.2		NA																	0					0						c.(1597-1599)TGG>CGG		membrane protein, palmitoylated 6							119.0	128.0	125.0					7																	24727207		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24727207T>C	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1597T>C	7.37:g.24727207T>C	ENSP00000222644:p.Trp533Arg					MPP6_uc003swy.2_Missense_Mutation_p.W533R|MPP6_uc010kur.2_Missense_Mutation_p.W201R	p.W533R	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			13	1896	+			533					B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.1597T>C	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250692	0.80135	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.24908	1.83;1.83;1.83	5.97	5.97	0.96955	.	0.000000	0.53938	D	0.000050	T	0.60222	0.2252	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68941	-0.5276	10	0.87932	D	0	.	16.4452	0.83925	0.0:0.0:0.0:1.0	.	533	Q9NZW5	MPP6_HUMAN	R	533;421;533	ENSP00000222644:W533R;ENSP00000386262:W421R;ENSP00000379737:W533R	ENSP00000222644:W533R	W	+	1	0	MPP6	24693732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.281000	0.76405	0.528000	0.53228	TGG		0.343	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			36	125	0	0	0	0.00623	0	36	125				
HOXA1	3198	broad.mit.edu	37	7	27134073	27134073	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:27134073T>C	ENST00000343060.4	-	2	1055	c.994A>G	c.(994-996)Act>Gct	p.T332A	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	332					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGGAGGTAGTCAGAGTGTCT	0.577																																							uc003sye.2		NA																	0				ovary(3)	3						c.(994-996)ACT>GCT		homeobox A1 isoform a							42.0	45.0	44.0					7																	27134073		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134073T>C		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.994A>G	7.37:g.27134073T>C	ENSP00000343246:p.Thr332Ala					HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	p.T332A	NM_005522	NP_005513	P49639	HXA1_HUMAN			2	1088	-			332					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.994A>G	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608779	0.14066	.	.	ENSG00000105991	ENST00000343060	D	0.90069	-2.61	5.31	-0.174	0.13319	.	0.641649	0.15831	N	0.242519	T	0.77046	0.4073	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60865	-0.7178	10	0.07325	T	0.83	.	11.0212	0.47720	0.0:0.0928:0.6184:0.2888	.	332	P49639	HXA1_HUMAN	A	332	ENSP00000343246:T332A	ENSP00000343246:T332A	T	-	1	0	HOXA1	27100598	0.319000	0.24607	0.987000	0.45799	0.997000	0.91878	0.307000	0.19296	-0.258000	0.09446	0.533000	0.62120	ACT		0.577	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			4	58	0	0	0	0.000602	0	4	58				
GLI3	2737	broad.mit.edu	37	7	42005962	42005962	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:42005962C>A	ENST00000395925.3	-	15	2793	c.2709G>T	c.(2707-2709)tcG>tcT	p.S903S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	903					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGAGCGGCGCGAGGCGTCGG	0.721									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2707-2709)TCG>TCT		GLI-Kruppel family member GLI3							21.0	25.0	24.0					7																	42005962		2198	4291	6489	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005962C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2709G>T	7.37:g.42005962C>A						GLI3_uc011kbg.1_Silent_p.S844S	p.S903S	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	2800	-			903	S->A: Loss of proteolytic processing.				A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2709G>T	CCDS5465.1																																																																																				0.721	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	29	1	0	8.12818e-05	0.001984	8.69429e-05	7	29				
POLR2J4	84820	broad.mit.edu	37	7	44005532	44005532	+	RNA	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:44005532A>G	ENST00000427076.1	-	0	1360				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		CTGCTGCGCCACCCGCAGTCT	0.607																																							uc003tjd.2		NA																	0					0						c.(157-159)GTG>GCG		Homo sapiens cDNA FLJ58900 complete cds, weakly similar to Uroplakin-3B precursor.																																						84820							g.chr7:44005532A>G			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44005532A>G						POLR2J4_uc003tjc.2_RNA	p.V53A							7	603	-									Missense_Mutation	SNP	ENST00000427076.1	37	c.158T>C																																																																																					0.607	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		13	31	0	0	0	0.003163	0	13	31				
NPC1L1	29881	broad.mit.edu	37	7	44579292	44579292	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:44579292G>T	ENST00000289547.4	-	2	759	c.704C>A	c.(703-705)cCt>cAt	p.P235H	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P235H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P235H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P235H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	235					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTCATTCAGAGGCTGAATCCC	0.612																																							uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(703-705)CCT>CAT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						75.0	70.0	72.0					7																	44579292		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579292G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.704C>A	7.37:g.44579292G>T	ENSP00000289547:p.Pro235His					NPC1L1_uc003tlc.2_Missense_Mutation_p.P235H|NPC1L1_uc011kbw.1_Missense_Mutation_p.P235H|NPC1L1_uc003tld.2_Missense_Mutation_p.P235H	p.P235H	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	760	-			235			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.704C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.100821	0.37048	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	4.89	1.17	0.20885	.	0.521020	0.15899	N	0.239145	D	0.96018	0.8703	M	0.88105	2.93	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.67548	0.924;0.949;0.924;0.952	D	0.89325	0.3643	10	0.49607	T	0.09	-0.7032	7.9236	0.29861	0.3672:0.0:0.6328:0.0	.	235;235;235;235	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	235	ENSP00000289547:P235H;ENSP00000370552:P235H;ENSP00000438033:P235H;ENSP00000404670:P235H	ENSP00000289547:P235H	P	-	2	0	NPC1L1	44545817	1.000000	0.71417	0.003000	0.11579	0.606000	0.37113	4.024000	0.57218	0.001000	0.14605	0.455000	0.32223	CCT		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		13	78	1	0	9.31168e-06	0.001855	1.0188e-05	13	78				
MYO1G	64005	broad.mit.edu	37	7	45011817	45011817	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:45011817C>A	ENST00000258787.7	-	6	762	c.626G>T	c.(625-627)aGa>aTa	p.R209I		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	209	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTCACTGCCTCTCAGCAACTA	0.512																																							uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(625-627)AGA>ATA		myosin IG							185.0	162.0	170.0					7																	45011817		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45011817C>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.626G>T	7.37:g.45011817C>A	ENSP00000258787:p.Arg209Ile					MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.R94I|MYO1G_uc003tmi.1_Missense_Mutation_p.R121I|MYO1G_uc003tmj.2_5'UTR	p.R209I	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			6	770	-			209			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.626G>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461220	0.43736	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	4.61	3.73	0.42828	Myosin head, motor domain (2);	0.000000	0.40302	N	0.001121	D	0.84097	0.5397	L	0.59967	1.855	0.33644	D	0.607675	B;P	0.37276	0.38;0.589	B;B	0.38842	0.283;0.222	D	0.87110	0.2184	10	0.42905	T	0.14	.	10.7473	0.46187	0.0:0.9064:0.0:0.0936	.	209;209	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	I	209	ENSP00000258787:R209I	ENSP00000258787:R209I	R	-	2	0	MYO1G	44978342	0.001000	0.12720	0.257000	0.24404	0.829000	0.46940	0.594000	0.24014	1.295000	0.44724	-0.136000	0.14681	AGA		0.512	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			11	87	1	0	6.40141e-05	0.000978	6.87682e-05	11	87				
C7orf57	136288	broad.mit.edu	37	7	48080957	48080957	+	Missense_Mutation	SNP	C	C	T	rs367644498		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:48080957C>T	ENST00000348904.3	+	3	294	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	C7orf57_ENST00000539619.1_Missense_Mutation_p.R28C|C7orf57_ENST00000430738.1_Missense_Mutation_p.R73C|C7orf57_ENST00000420324.1_Missense_Mutation_p.R73C|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	28										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCAGTGAAGCGCTCTGAGAA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16763	0.0		0.0	False		,,,				2504	0.0						uc003toh.3		NA																	0				ovary(1)	1						c.(82-84)CGC>TGC		hypothetical protein LOC136288		C	CYS/ARG	1,3901		0,1,1950	51.0	55.0	54.0		82	2.5	0.8	7		54	0,8288		0,0,4144	no	missense	C7orf57	NM_001100159.1	180	0,1,6094	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	28/296	48080957	1,12189	1951	4144	6095	SO:0001583	missense	136288							g.chr7:48080957C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.82C>T	7.37:g.48080957C>T	ENSP00000335500:p.Arg28Cys					C7orf57_uc003toi.3_5'UTR	p.R28C	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	294	+			28					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.82C>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239403	0.39598	2.56E-4	0.0	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.69	2.51	0.30379	.	0.146210	0.45361	D	0.000369	T	0.63367	0.2505	M	0.72118	2.19	0.35378	D	0.789641	D	0.89917	1.0	P	0.62014	0.897	T	0.75964	-0.3132	10	0.87932	D	0	-23.8121	14.1669	0.65483	0.3892:0.6108:0.0:0.0	.	28	Q8NEG2	CG057_HUMAN	C	73;73;28;28	ENSP00000394648:R73C;ENSP00000410944:R73C;ENSP00000335500:R28C;ENSP00000442474:R28C	ENSP00000335500:R28C	R	+	1	0	C7orf57	48047482	0.975000	0.34042	0.846000	0.33378	0.055000	0.15305	2.284000	0.43478	0.719000	0.32188	-0.311000	0.09066	CGC		0.582	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		6	54	0	0	0	0.00308	0	6	54				
ABCA13	154664	broad.mit.edu	37	7	48349667	48349667	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:48349667C>A	ENST00000435803.1	+	24	9469	c.9445C>A	c.(9445-9447)Cca>Aca	p.P3149T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3149					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P3149A(1)|p.P3094A(1)|p.P3149E(1)|p.P3094E(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTAGCCTGCCAGGGTCAAA	0.488																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9445-9447)CCA>ACA		ATP binding cassette, sub-family A (ABC1),							223.0	220.0	221.0					7																	48349667		1964	4166	6130	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349667C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9445C>A	7.37:g.48349667C>A	ENSP00000411096:p.Pro3149Thr					ABCA13_uc010kys.1_Missense_Mutation_p.P223T|ABCA13_uc003tos.1_5'Flank	p.P3149T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			24	9470	+			3149					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9445C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321150	0.41096	.	.	ENSG00000179869	ENST00000435803	D	0.86956	-2.19	5.71	4.83	0.62350	.	0.000000	0.48286	D	0.000193	D	0.89192	0.6645	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.956	D	0.89655	0.3872	10	0.66056	D	0.02	.	11.8433	0.52368	0.0:0.9199:0.0:0.0801	.	851;3149	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3149	ENSP00000411096:P3149T	ENSP00000411096:P3149T	P	+	1	0	ABCA13	48320213	0.994000	0.37717	0.846000	0.33378	0.032000	0.12392	1.077000	0.30741	1.406000	0.46857	0.655000	0.94253	CCA		0.488	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		103	140	1	0	1.04275e-50	0.00361	1.36833e-50	103	140				
ZNF716	441234	broad.mit.edu	37	7	57529293	57529294	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:57529293_57529294GG>CT	ENST00000420713.1	+	4	1238_1239	c.1126_1127GG>CT	c.(1126-1128)GGa>CTa	p.G376L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCATACTGGAGAGAAACCC	0.411																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(1126-1128)GGA>CTA		zinc finger protein 716																																				SO:0001583	missense	441234							g.chr7:57529293_57529294GG>CT	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	Exception_encountered	7.37:g.57529293_57529294delinsCT	ENSP00000394248:p.Gly376Leu						p.G376L	NM_001159279	NP_001152751					4	1238_1239	+									Missense_Mutation	DNP	ENST00000420713.1	37	c.1126_1127GG>CT	CCDS55112.1																																																																																				0.411	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		6	23	0	0	0	0.004672	0	6	23				
ZNF117	51351	broad.mit.edu	37	7	64439817	64439817	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:64439817A>G	ENST00000282869.6	-	4	1416	c.132T>C	c.(130-132)taT>taC	p.Y44Y		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	44				GY -> RH (in Ref. 4; AAA58666). {ECO:0000305}.	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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTAAATTCTCATATCCACATT	0.353																																							uc003ttr.2		NA																	0				skin(1)	1						c.(130-132)TAT>TAC		zinc finger protein 117							53.0	55.0	54.0					7																	64439817		2094	4242	6336	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439817A>G	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.132T>C	7.37:g.64439817A>G							p.Y44Y	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	1417	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	44	GY -> RH (in Ref. 4; AAA58666).				Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.132T>C	CCDS43593.1																																																																																				0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		5	46	0	0	0	0.001168	0	5	46				
NSUN5	55695	broad.mit.edu	37	7	72717935	72717935	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:72717935C>T	ENST00000252594.6	-	8	1048	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A345T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A345T|NSUN5_ENST00000428206.1_Missense_Mutation_p.A307T			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	345					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AAAGTGAGCGCGTGGCACAGG	0.657																																							uc003txw.2		NA																	0					0						c.(1033-1035)GCG>ACG		NOL1/NOP2/Sun domain family, member 5 isoform 2							36.0	39.0	38.0					7																	72717935		2203	4299	6502	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72717935C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1033G>A	7.37:g.72717935C>T	ENSP00000252594:p.Ala345Thr					FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.A345T|NSUN5_uc003txx.2_Missense_Mutation_p.A307T|NSUN5_uc011kev.1_Missense_Mutation_p.A345T	p.A345T	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			8	1069	-		Lung NSC(55;0.163)	345					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.1033G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.783419	0.70222	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	3.52	0.40303	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.099426	0.64402	D	0.000002	T	0.49592	0.1566	M	0.93328	3.405	0.46901	D	0.999246	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.989;0.995;0.999	T	0.60271	-0.7296	10	0.62326	D	0.03	.	11.4915	0.50383	0.0:0.9124:0.0:0.0876	.	345;307;345;345	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	T	307;345;345;345	ENSP00000393081:A307T;ENSP00000252594:A345T;ENSP00000388464:A345T;ENSP00000309126:A345T	ENSP00000252594:A345T	A	-	1	0	NSUN5	72355871	1.000000	0.71417	0.055000	0.19348	0.365000	0.29674	5.899000	0.69846	1.082000	0.41137	0.485000	0.47835	GCG		0.657	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		15	45	0	0	0	0.004007	0	15	45				
PCLO	27445	broad.mit.edu	37	7	82585510	82585510	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:82585510T>A	ENST00000333891.9	-	5	5096	c.4759A>T	c.(4759-4761)Agc>Tgc	p.S1587C	PCLO_ENST00000423517.2_Missense_Mutation_p.S1587C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGTACTGCTACTAATCTCT	0.408																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(4759-4761)AGC>TGC		piccolo isoform 1							187.0	178.0	181.0					7																	82585510		1939	4139	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585510T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4759A>T	7.37:g.82585510T>A	ENSP00000334319:p.Ser1587Cys					PCLO_uc003uhv.2_Missense_Mutation_p.S1587C	p.S1587C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5048	-			1518						Missense_Mutation	SNP	ENST00000333891.9	37	c.4759A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	2.821	-0.244778	0.05906	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.26	0.431	0.16523	.	.	.	.	.	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	P;P	0.48230	0.846;0.907	B;B	0.44163	0.443;0.443	T	0.23547	-1.0185	9	0.87932	D	0	.	9.4594	0.38776	0.0:0.3761:0.0:0.6239	.	1587;1587	Q9Y6V0-5;Q9Y6V0-6	.;.	C	1518;1587;1587	ENSP00000334319:S1587C;ENSP00000388393:S1587C	ENSP00000334319:S1587C	S	-	1	0	PCLO	82423446	0.000000	0.05858	0.001000	0.08648	0.723000	0.41478	0.339000	0.19875	0.339000	0.23719	0.533000	0.62120	AGC		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		34	117	0	0	0	0.003271	0	34	117				
DMTF1	9988	broad.mit.edu	37	7	86811589	86811589	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:86811589G>A	ENST00000394703.5	+	12	1319	c.756G>A	c.(754-756)gcG>gcA	p.A252A	DMTF1_ENST00000331242.7_Silent_p.A252A|DMTF1_ENST00000432937.2_Silent_p.A164A|DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000413276.2_Silent_p.A252A|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	252	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 1. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A252A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGGGGCGGCGCTAGGAAGAA	0.458																																							uc003uih.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(754-756)GCG>GCA		cyclin D binding myb-like transcription factor 1							144.0	131.0	135.0					7																	86811589		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86811589G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.756G>A	7.37:g.86811589G>A						DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.A164A|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.A252A|DMTF1_uc003uin.2_5'UTR	p.A252A	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			10	1082	+	Esophageal squamous(14;0.0058)		252			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.756G>A	CCDS5601.1																																																																																				0.458	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		5	74	0	0	0	0.000602	0	5	74				
ABCB1	5243	broad.mit.edu	37	7	87195421	87195421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:87195421G>T	ENST00000265724.3	-	8	1084	c.667C>A	c.(667-669)Cct>Act	p.P223T	ABCB1_ENST00000543898.1_Missense_Mutation_p.P159T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	223	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCAAGAACAGGACTGATGGCC	0.463																																							uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(667-669)CCT>ACT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						128.0	114.0	119.0					7																	87195421		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195421G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.667C>A	7.37:g.87195421G>T	ENSP00000265724:p.Pro223Thr					ABCB1_uc011khc.1_Missense_Mutation_p.P159T	p.P223T	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	1085	-	Esophageal squamous(14;0.00164)		223			ABC transmembrane type-1 1.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.667C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881068	0.91740	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.92647	-3.08;-3.08	5.86	5.86	0.93980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.918	D	0.98050	1.0387	10	0.87932	D	0	-14.9836	20.2019	0.98263	0.0:0.0:1.0:0.0	.	159;223	B5AK60;P08183	.;MDR1_HUMAN	T	223;159	ENSP00000265724:P223T;ENSP00000444095:P159T	ENSP00000265724:P223T	P	-	1	0	ABCB1	87033357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.776000	0.95493	0.655000	0.94253	CCT		0.463	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		19	53	1	0	2.39187e-15	0.008871	3.00555e-15	19	53				
ANKIB1	54467	broad.mit.edu	37	7	92020624	92020624	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:92020624G>C	ENST00000265742.3	+	16	2573	c.2197G>C	c.(2197-2199)Gct>Cct	p.A733P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	733							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGGGGAGTAGCTCCTGCAGA	0.512																																							uc003ulw.2		NA																	0				lung(1)	1						c.(2197-2199)GCT>CCT		ankyrin repeat and IBR domain containing 1							44.0	45.0	44.0					7																	92020624		1938	4143	6081	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92020624G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2197G>C	7.37:g.92020624G>C	ENSP00000265742:p.Ala733Pro					ANKIB1_uc010lew.1_Missense_Mutation_p.S19T	p.A733P	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	2573	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		733					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2197G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336321	0.95758	.	.	ENSG00000001629	ENST00000265742	T	0.13307	2.6	5.34	5.34	0.76211	.	0.052612	0.85682	D	0.000000	T	0.31104	0.0786	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.00817	-1.1554	10	0.62326	D	0.03	.	19.4102	0.94670	0.0:0.0:1.0:0.0	.	733	Q9P2G1	AKIB1_HUMAN	P	733	ENSP00000265742:A733P	ENSP00000265742:A733P	A	+	1	0	ANKIB1	91858560	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.654000	0.90174	0.563000	0.77884	GCT		0.512	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			10	40	0	0	0	0.008291	0	10	40				
SAMD9L	219285	broad.mit.edu	37	7	92762906	92762906	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:92762906C>T	ENST00000318238.4	-	5	3595	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SAMD9L_ENST00000437805.1_Silent_p.Q793Q|SAMD9L_ENST00000411955.1_Silent_p.Q793Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	793					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATGTAATCCTGATGGCTCT	0.378																																							uc003umh.1		NA																	0				ovary(4)	4						c.(2377-2379)CAG>CAA		sterile alpha motif domain containing 9-like							111.0	107.0	108.0					7																	92762906		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92762906C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2379G>A	7.37:g.92762906C>T						SAMD9L_uc003umj.1_Silent_p.Q793Q|SAMD9L_uc003umi.1_Silent_p.Q793Q|SAMD9L_uc010lfb.1_Silent_p.Q793Q|SAMD9L_uc003umk.1_Silent_p.Q793Q|SAMD9L_uc010lfc.1_Silent_p.Q793Q|SAMD9L_uc010lfd.1_Silent_p.Q793Q|SAMD9L_uc011khx.1_Intron	p.Q793Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3595	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		793					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2379G>A	CCDS34681.1																																																																																				0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		30	108	0	0	0	0.009535	0	30	108				
CALCR	799	broad.mit.edu	37	7	93098038	93098038	+	Missense_Mutation	SNP	G	G	T	rs200267145		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93098038G>T	ENST00000394441.1	-	6	825	c.510C>A	c.(508-510)ttC>ttA	p.F170L	CALCR_ENST00000426151.1_Missense_Mutation_p.F170L|CALCR_ENST00000421592.1_Missense_Mutation_p.F170L|CALCR_ENST00000360249.4_Missense_Mutation_p.F170L|CALCR_ENST00000359558.2_Missense_Mutation_p.F188L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	188					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TGAAAAACACGAAAATCCCCA	0.398																																							uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(562-564)TTC>TTA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						109.0	103.0	105.0					7																	93098038		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93098038G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.510C>A	7.37:g.93098038G>T	ENSP00000377959:p.Phe170Leu					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.F170L|CALCR_uc003umw.2_Missense_Mutation_p.F170L	p.F188L	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		7	825	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		170			Helical; Name=1; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.564C>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053921	0.55218	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.46063	0.88;0.89;0.89;0.98;0.98	4.84	-0.135	0.13477	.	.	.	.	.	T	0.42494	0.1205	L	0.48174	1.505	0.80722	D	1	D;P	0.59357	0.985;0.599	P;P	0.60068	0.868;0.541	T	0.46735	-0.9170	9	0.08837	T	0.75	.	7.1227	0.25454	0.249:0.1258:0.6252:0.0	.	188;170	F5H605;A4D1G6	.;.	L	188;170;170;170;170	ENSP00000352561:F188L;ENSP00000353385:F170L;ENSP00000399552:F170L;ENSP00000377959:F170L;ENSP00000389295:F170L	ENSP00000352561:F188L	F	-	3	2	CALCR	92935974	0.998000	0.40836	0.187000	0.23214	0.034000	0.12701	1.908000	0.39907	0.124000	0.18369	-0.258000	0.10820	TTC		0.398	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		35	24	1	0	2.52449e-32	0.006999	3.29534e-32	35	24				
CALCR	799	broad.mit.edu	37	7	93108766	93108766	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93108766C>T	ENST00000394441.1	-	3	420	c.105G>A	c.(103-105)gaG>gaA	p.E35E	CALCR_ENST00000426151.1_Silent_p.E35E|CALCR_ENST00000421592.1_Silent_p.E35E|CALCR_ENST00000360249.4_Silent_p.E35E|CALCR_ENST00000359558.2_Silent_p.E53E	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATGGCTTGGGCTCTATTGTTG	0.423																																							uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(157-159)GAG>GAA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						174.0	163.0	167.0					7																	93108766		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108766C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.105G>A	7.37:g.93108766C>T						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.E35E|CALCR_uc003umw.2_Silent_p.E35E	p.E53E	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	420	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		35			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.159G>A	CCDS5631.1																																																																																				0.423	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		33	137	0	0	0	0.002836	0	33	137				
CALCR	799	broad.mit.edu	37	7	93108804	93108804	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93108804G>T	ENST00000394441.1	-	3	382	c.67C>A	c.(67-69)Ctt>Att	p.L23I	CALCR_ENST00000426151.1_Missense_Mutation_p.L23I|CALCR_ENST00000421592.1_Missense_Mutation_p.L23I|CALCR_ENST00000360249.4_Missense_Mutation_p.L23I|CALCR_ENST00000359558.2_Missense_Mutation_p.L41I	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	41					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AAGGCAGGAAGAATTGGGGTT	0.378																																							uc003umv.1		NA																	0		p.Y41*(1)		ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(121-123)CTT>ATT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						124.0	120.0	122.0					7																	93108804		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108804G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.67C>A	7.37:g.93108804G>T	ENSP00000377959:p.Leu23Ile					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.L23I|CALCR_uc003umw.2_Missense_Mutation_p.L23I	p.L41I	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	382	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		23					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.121C>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237888	0.22711	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.65;0.65;0.74;0.74	5.17	1.23	0.21249	.	.	.	.	.	T	0.42291	0.1196	L	0.55481	1.735	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.16289	0.015;0.003	T	0.31138	-0.9954	9	0.31617	T	0.26	.	4.8891	0.13717	0.2427:0.0:0.5985:0.1588	.	41;23	F5H605;A4D1G6	.;.	I	41;23;23;23;23;23	ENSP00000352561:L41I;ENSP00000353385:L23I;ENSP00000399552:L23I;ENSP00000377959:L23I;ENSP00000389295:L23I	ENSP00000352561:L41I	L	-	1	0	CALCR	92946740	0.027000	0.19231	0.014000	0.15608	0.004000	0.04260	0.402000	0.20965	0.107000	0.17824	-0.143000	0.13931	CTT		0.378	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	118	1	0	9.57634e-11	0.00333	1.15212e-10	24	118				
TECPR1	25851	broad.mit.edu	37	7	97862899	97862899	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:97862899C>T	ENST00000447648.2	-	11	1805	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	TECPR1_ENST00000379795.3_Silent_p.S502S|TECPR1_ENST00000542604.1_Silent_p.S432S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	502					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCAGCGGCCGAGTGGCTGG	0.687																																							uc003upg.2		NA																	0				pancreas(1)	1						c.(1504-1506)TCG>TCA		tectonin beta-propeller repeat containing 1							15.0	21.0	19.0					7																	97862899		1871	4100	5971	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97862899C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1506G>A	7.37:g.97862899C>T						TECPR1_uc003uph.1_Silent_p.S432S	p.S502S	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			11	1711	-			502					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.1506G>A	CCDS47648.1																																																																																				0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		8	12	0	0	0	0.004482	0	8	12				
TRRAP	8295	broad.mit.edu	37	7	98543387	98543387	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:98543387C>T	ENST00000359863.4	+	32	4700	c.4491C>T	c.(4489-4491)tgC>tgT	p.C1497C	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1497					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCCGAGTGCGGGAGATGTC	0.383																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4489-4491)TGC>TGT		transformation/transcription domain-associated							132.0	119.0	123.0					7																	98543387		876	1991	2867	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98543387C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4491C>T	7.37:g.98543387C>T						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Silent_p.C1189C	p.C1497C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		32	4700	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1497					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4491C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675266	0.14841	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.02	5.14	0.70334	.	.	.	.	.	T	0.62744	0.2453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61466	-0.7057	4	.	.	.	.	10.8856	0.46965	0.0:0.8513:0.0:0.1487	.	.	.	.	V	1212	.	.	A	+	2	0	TRRAP	98381323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.556000	0.49512	0.591000	0.81541	GCG		0.383	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	54	0	0	0	0.000978	0	11	54				
ZAN	7455	broad.mit.edu	37	7	100345264	100345264	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:100345264G>A	ENST00000348028.3	+	0	1188				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACGGATACAGGTACAGAGAA	0.532																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1021-1023)CAG>CAA		zonadhesin isoform 3							83.0	77.0	79.0					7																	100345264		1941	4131	6072			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345264G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345264G>A						ZAN_uc003uwk.2_Silent_p.Q341Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.Q341Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		9	1188	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		341			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.1023G>A																																																																																					0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	50	0	0	0	0.001855	0	13	50				
CUX1	1523	broad.mit.edu	37	7	101747700	101747700	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:101747700A>T	ENST00000292535.7	+	6	529	c.491A>T	c.(490-492)aAg>aTg	p.K164M	CUX1_ENST00000549414.2_Missense_Mutation_p.K164M|CUX1_ENST00000556210.1_Missense_Mutation_p.K164M|CUX1_ENST00000546411.2_Missense_Mutation_p.K164M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.K159M|CUX1_ENST00000550008.2_Missense_Mutation_p.K164M|CUX1_ENST00000425244.2_Missense_Mutation_p.K129M|CUX1_ENST00000437600.4_Missense_Mutation_p.K175M|CUX1_ENST00000292538.4_Missense_Mutation_p.K175M|CUX1_ENST00000393824.3_Missense_Mutation_p.K138M|CUX1_ENST00000360264.3_Missense_Mutation_p.K175M	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	164					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTCTTGAGAAGGAACAGAAG	0.418																																							uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(490-492)AAG>ATG		cut-like homeobox 1 isoform a							212.0	185.0	194.0					7																	101747700		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747700A>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.491A>T	7.37:g.101747700A>T	ENSP00000292535:p.Lys164Met					CUX1_uc003uys.3_Missense_Mutation_p.K175M|CUX1_uc003uyt.2_Missense_Mutation_p.K175M|CUX1_uc011kkn.1_Missense_Mutation_p.K138M|CUX1_uc003uyw.2_Missense_Mutation_p.K129M|CUX1_uc003uyv.2_Missense_Mutation_p.K159M|CUX1_uc003uyu.2_Missense_Mutation_p.K175M	p.K164M	NM_181552	NP_853530	P39880	CUX1_HUMAN			6	529	+			164			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.491A>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663607	0.88251	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;D;T;T;T	0.82433	0.86;0.86;0.86;1.22;0.86;0.86;-1.61;0.86;0.86;0.86	5.8	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.69523	2.12	0.50467	D	0.999874	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.997;1.0;1.0;0.999;0.999	D;P;P;D;D;P;D	0.74348	0.921;0.87;0.819;0.983;0.98;0.894;0.939	D	0.88589	0.3142	10	0.51188	T	0.08	-26.8667	11.6109	0.51059	0.9309:0.0:0.0691:0.0	.	138;164;129;159;175;175;175	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	M	175;159;175;129;175;164;164;164;164;164	ENSP00000292538:K175M;ENSP00000449371:K159M;ENSP00000353401:K175M;ENSP00000409745:K129M;ENSP00000414091:K175M;ENSP00000292535:K164M;ENSP00000446630:K164M;ENSP00000447373:K164M;ENSP00000450125:K164M;ENSP00000451558:K164M	ENSP00000292535:K164M	K	+	2	0	CUX1	101534420	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	7.248000	0.78268	1.041000	0.40125	0.459000	0.35465	AAG		0.418	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	109	0	0	0	0.001984	0	7	109				
CUX1	1523	broad.mit.edu	37	7	101755043	101755043	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:101755043G>A	ENST00000292535.7	+	7	634	c.596G>A	c.(595-597)aGc>aAc	p.S199N	CUX1_ENST00000549414.2_Missense_Mutation_p.S199N|CUX1_ENST00000556210.1_Missense_Mutation_p.S199N|CUX1_ENST00000546411.2_Missense_Mutation_p.S199N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.S194N|CUX1_ENST00000550008.2_Missense_Mutation_p.S199N|CUX1_ENST00000425244.2_Missense_Mutation_p.S164N|CUX1_ENST00000437600.4_Missense_Mutation_p.S210N|CUX1_ENST00000292538.4_Missense_Mutation_p.S210N|CUX1_ENST00000393824.3_Missense_Mutation_p.S173N|CUX1_ENST00000360264.3_Missense_Mutation_p.S210N	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	199					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGGTTCAGAGCCTACAAACA	0.562																																							uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(595-597)AGC>AAC		cut-like homeobox 1 isoform a							107.0	94.0	98.0					7																	101755043		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101755043G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.596G>A	7.37:g.101755043G>A	ENSP00000292535:p.Ser199Asn					CUX1_uc003uys.3_Missense_Mutation_p.S210N|CUX1_uc003uyt.2_Missense_Mutation_p.S210N|CUX1_uc011kkn.1_Missense_Mutation_p.S173N|CUX1_uc003uyw.2_Missense_Mutation_p.S164N|CUX1_uc003uyv.2_Missense_Mutation_p.S194N|CUX1_uc003uyu.2_Missense_Mutation_p.S210N	p.S199N	NM_181552	NP_853530	P39880	CUX1_HUMAN			7	634	+			199			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.596G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185477	0.21870	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;1.55;0.95;0.95;0.95;0.95;0.95;0.95	5.66	2.79	0.32731	.	0.310145	0.35096	N	0.003459	T	0.23965	0.0580	N	0.14661	0.345	0.27790	N	0.942851	B;B;B;B;B;B;B	0.26258	0.026;0.09;0.026;0.001;0.045;0.008;0.145	B;B;B;B;B;B;B	0.27380	0.009;0.022;0.011;0.007;0.011;0.009;0.079	T	0.17776	-1.0358	10	0.18276	T	0.48	-6.0131	10.7898	0.46426	0.0:0.5382:0.3946:0.0671	.	173;199;164;194;210;210;210	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	N	210;194;210;164;210;199;199;199;199;199	ENSP00000292538:S210N;ENSP00000449371:S194N;ENSP00000353401:S210N;ENSP00000409745:S164N;ENSP00000414091:S210N;ENSP00000292535:S199N;ENSP00000446630:S199N;ENSP00000447373:S199N;ENSP00000450125:S199N;ENSP00000451558:S199N	ENSP00000292535:S199N	S	+	2	0	CUX1	101541763	1.000000	0.71417	0.878000	0.34440	0.717000	0.41224	2.203000	0.42752	0.377000	0.24735	-0.165000	0.13383	AGC		0.562	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		8	33	0	0	0	0.00308	0	8	33				
RELN	5649	broad.mit.edu	37	7	103276722	103276722	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:103276722G>A	ENST00000428762.1	-	18	2422	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	RELN_ENST00000424685.2_Missense_Mutation_p.R755C|RELN_ENST00000343529.5_Missense_Mutation_p.R755C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	755					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTAGCTGACGCCGCCCATCT	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2263-2265)CGT>TGT		reelin isoform a							73.0	64.0	67.0					7																	103276722		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103276722G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2263C>T	7.37:g.103276722G>A	ENSP00000392423:p.Arg755Cys					RELN_uc010liz.2_Missense_Mutation_p.R755C	p.R755C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	18	2423	-			755					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2263C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817609	0.70912	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.35236	1.32;1.32;1.32	5.76	4.89	0.63831	.	0.052911	0.85682	N	0.000000	T	0.61527	0.2354	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.67284	-0.5709	10	0.87932	D	0	.	14.7533	0.69543	0.0693:0.0:0.9307:0.0	.	755;755	P78509-2;P78509	.;RELN_HUMAN	C	755	ENSP00000392423:R755C;ENSP00000345694:R755C;ENSP00000388446:R755C	ENSP00000345694:R755C	R	-	1	0	RELN	103063958	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.723000	0.61965	1.445000	0.47624	0.591000	0.81541	CGT		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	37	0	0	0	0.006214	0	7	37				
PUS7	54517	broad.mit.edu	37	7	105142882	105142882	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:105142882T>C	ENST00000356362.2	-	5	929	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	PUS7_ENST00000469408.1_Missense_Mutation_p.K239E	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	239					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AAAGCCTTTTTCCCAGCTGCG	0.532																																					Colon(138;2387 3051 17860)	Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(715-717)AAA>GAA		pseudouridylate synthase 7 homolog							210.0	177.0	189.0					7																	105142882		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105142882T>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.715A>G	7.37:g.105142882T>C	ENSP00000348722:p.Lys239Glu					PUS7_uc010lji.2_Missense_Mutation_p.K239E|PUS7_uc003vcy.2_Missense_Mutation_p.K239E|PUS7_uc003vcz.1_Missense_Mutation_p.K239E	p.K239E	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			5	934	-			239					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.715A>G	CCDS34725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.28|16.28	3.078278|3.078278	0.55753|0.55753	.|.	.|.	ENSG00000091127|ENSG00000091127	ENST00000482157|ENST00000356362;ENST00000544995;ENST00000469408	.|T;T	.|0.50001	.|0.76;0.76	5.84|5.84	4.62|4.62	0.57501|0.57501	.|Pseudouridine synthase, catalytic domain (1);	.|0.207177	.|0.49305	.|D	.|0.000153	T|T	0.36936|0.36936	0.0985|0.0985	L|L	0.44542|0.44542	1.39|1.39	0.48762|0.48762	D|D	0.999708|0.999708	.|B	.|0.14805	.|0.011	.|B	.|0.08055	.|0.003	T|T	0.15206|0.15206	-1.0445|-1.0445	5|10	.|0.14656	.|T	.|0.56	-8.1389|-8.1389	12.0223|12.0223	0.53350|0.53350	0.0:0.0:0.1441:0.8559|0.0:0.0:0.1441:0.8559	.|.	.|239	.|Q96PZ0	.|PUS7_HUMAN	G|E	79|239	.|ENSP00000348722:K239E;ENSP00000417402:K239E	.|ENSP00000348722:K239E	E|K	-|-	2|1	0|0	PUS7|PUS7	104930118|104930118	1.000000|1.000000	0.71417|0.71417	0.030000|0.030000	0.17652|0.17652	0.962000|0.962000	0.63368|0.63368	5.919000|5.919000	0.70005|0.70005	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.532	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		21	91	0	0	0	0.004656	0	21	91				
LAMB4	22798	broad.mit.edu	37	7	107743616	107743616	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:107743616G>A	ENST00000388781.3	-	10	1136	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	LAMB4_ENST00000414450.2_Silent_p.S351S|LAMB4_ENST00000205386.4_Silent_p.S351S|LAMB4_ENST00000418464.1_Silent_p.S351S|LAMB4_ENST00000388780.3_Silent_p.S351S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	351	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAGGCCACCGCTTGCCAGGT	0.587																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1051-1053)AGC>AGT		laminin, beta 4 precursor							39.0	31.0	34.0					7																	107743616		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743616G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1053C>T	7.37:g.107743616G>A						LAMB4_uc003vey.2_Silent_p.S351S	p.S351S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			10	1137	-			351			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1053C>T	CCDS34732.1																																																																																				0.587	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		4	12	0	0	0	0.009096	0	4	12				
C7orf60	154743	broad.mit.edu	37	7	112555439	112555439	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:112555439G>A	ENST00000297145.4	-	2	389	c.224C>T	c.(223-225)gCc>gTc	p.A75V	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	75							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CATTGCAACGGCATATTCACA	0.358																																							uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(223-225)GCC>GTC		hypothetical protein LOC154743							147.0	137.0	140.0					7																	112555439		1862	4109	5971	SO:0001583	missense	154743							g.chr7:112555439G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.224C>T	7.37:g.112555439G>A	ENSP00000297145:p.Ala75Val					C7orf60_uc011kms.1_Missense_Mutation_p.A101V	p.A75V	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			2	351	-			75					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.224C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461048	0.96240	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75020	0.985;0.952	D	0.85682	0.1301	9	0.87932	D	0	-11.2044	19.6493	0.95794	0.0:0.0:1.0:0.0	.	22;75	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	75;57;22	.	ENSP00000297145:A75V	A	-	2	0	C7orf60	112342675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.711000	0.92665	0.591000	0.81541	GCC		0.358	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		5	67	0	0	0	0.000602	0	5	67				
FOXP2	93986	broad.mit.edu	37	7	114269985	114269985	+	Silent	SNP	A	A	G	rs368614280		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000393500.3_Silent_p.Q99Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502																																							uc003vhb.2		NA																	1	Substitution - coding silent(1)	p.Q174*(1)	endometrium(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(520-522)CAA>CAG		forkhead box P2 isoform I		G	,,,,,	0,4398		0,0,2199	39.0	36.0	37.0		522,597,522,597,522,573	-1.2	1.0	7		37	1,8583		0,1,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,1,6490	GG,GA,AA		0.0116,0.0,0.0077	,,,,,	174/715,199/458,174/716,199/741,174/433,191/733	114269985	1,12981	2199	4292	6491	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269985A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.522A>G	7.37:g.114269985A>G						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q199Q|FOXP2_uc003vha.2_Silent_p.Q82Q|FOXP2_uc011kmu.1_Silent_p.Q191Q|FOXP2_uc011kmv.1_Silent_p.Q174Q|FOXP2_uc010ljz.1_Silent_p.Q82Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q174Q|FOXP2_uc003vgx.2_Silent_p.Q174Q|FOXP2_uc003vhd.2_Silent_p.Q174Q|FOXP2_uc003vhc.2_Silent_p.Q199Q	p.Q174Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN			5	896	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.522A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		10	37	0	0	0	0.000978	0	10	37				
PTPRZ1	5803	broad.mit.edu	37	7	121650420	121650420	+	Silent	SNP	C	C	T	rs181971807	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:121650420C>T	ENST00000393386.2	+	12	1731	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	PTPRZ1_ENST00000449182.1_Silent_p.G440G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	440					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAAGAAGGCGCTATTGTGA	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20086	0.002		0.0	False		,,,				2504	0.0						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1318-1320)GGC>GGT		protein tyrosine phosphatase, receptor-type,							125.0	123.0	124.0					7																	121650420		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650420C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1320C>T	7.37:g.121650420C>T						PTPRZ1_uc003vjz.2_Silent_p.G440G|PTPRZ1_uc011knt.1_5'UTR	p.G440G	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	1715	+			440			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.1320C>T	CCDS34740.1																																																																																				0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		14	89	0	0	0	0.004007	0	14	89				
RNF133	168433	broad.mit.edu	37	7	122338851	122338851	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:122338851T>A	ENST00000340112.2	-	1	359	c.122A>T	c.(121-123)tAt>tTt	p.Y41F	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	41					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TATGTTCATATAAGCCATCCA	0.433																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	0				skin(1)	1						c.(121-123)TAT>TTT		ring finger protein 133							110.0	105.0	107.0					7																	122338851		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338851T>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.122A>T	7.37:g.122338851T>A	ENSP00000344489:p.Tyr41Phe					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.Y41F	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	358	-			41					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.122A>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	6.294	0.422310	0.11928	.	.	ENSG00000188050	ENST00000340112	T	0.14766	2.48	5.86	3.42	0.39159	.	0.743246	0.11822	N	0.526134	T	0.16599	0.0399	M	0.63843	1.955	0.48762	D	0.999705	B	0.20887	0.049	B	0.23852	0.049	T	0.02190	-1.1198	10	0.23891	T	0.37	.	10.9803	0.47490	0.2495:0.0:0.0:0.7505	.	41	Q8WVZ7	RN133_HUMAN	F	41	ENSP00000344489:Y41F	ENSP00000344489:Y41F	Y	-	2	0	RNF133	122126087	0.612000	0.27000	0.960000	0.40013	0.567000	0.35839	1.458000	0.35223	0.440000	0.26502	-0.336000	0.08194	TAT		0.433	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		11	116	0	0	0	0.001368	0	11	116				
FLNC	2318	broad.mit.edu	37	7	128486101	128486101	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:128486101C>T	ENST00000325888.8	+	22	4109	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I	FLNC_ENST00000346177.6_Missense_Mutation_p.T1283I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1283					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTAACAGCCACAGGCGGCAAC	0.632																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3847-3849)ACA>ATA		gamma filamin isoform a							43.0	48.0	46.0					7																	128486101		2062	4195	6257	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486101C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3848C>T	7.37:g.128486101C>T	ENSP00000327145:p.Thr1283Ile					FLNC_uc003voa.3_Missense_Mutation_p.T1283I	p.T1283I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			22	4057	+			1283			Filamin 11.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3848C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146326	0.37923	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91237	-2.81;-2.81	5.07	2.14	0.27477	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.331359	0.32488	N	0.006024	D	0.85779	0.5776	L	0.54323	1.7	0.23838	N	0.996704	B;B	0.12013	0.005;0.004	B;B	0.14578	0.01;0.011	T	0.75932	-0.3143	10	0.56958	D	0.05	.	6.7811	0.23646	0.1418:0.7002:0.0:0.1579	.	1283;1283	Q14315-2;Q14315	.;FLNC_HUMAN	I	1283	ENSP00000327145:T1283I;ENSP00000344002:T1283I	ENSP00000327145:T1283I	T	+	2	0	FLNC	128273337	0.002000	0.14202	0.103000	0.21229	0.823000	0.46562	0.866000	0.27954	0.143000	0.18926	0.555000	0.69702	ACA		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			11	33	0	0	0	0.001855	0	11	33				
NRF1	4899	broad.mit.edu	37	7	129394889	129394889	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:129394889G>C	ENST00000393232.1	+	11	1497	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	NRF1_ENST00000393231.3_Missense_Mutation_p.Q479H|NRF1_ENST00000223190.4_Missense_Mutation_p.Q460H|NRF1_ENST00000393230.2_Missense_Mutation_p.Q460H|NRF1_ENST00000311967.2_Missense_Mutation_p.Q479H|NRF1_ENST00000539636.1_Missense_Mutation_p.Q299H|NRF1_ENST00000353868.4_Missense_Mutation_p.Q394H|RNA5SP244_ENST00000390936.1_RNA	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	460	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCATGTACCAGACTGTGGTGA	0.627																																							uc003voz.2		NA																	0				ovary(1)	1						c.(1378-1380)CAG>CAC		nuclear respiratory factor 1							95.0	82.0	87.0					7																	129394889		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129394889G>C	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1380G>C	7.37:g.129394889G>C	ENSP00000376924:p.Gln460His					NRF1_uc003vpa.2_Missense_Mutation_p.Q479H|NRF1_uc011kpa.1_Missense_Mutation_p.Q299H|NRF1_uc003vpb.2_Missense_Mutation_p.Q460H	p.Q460H	NM_005011	NP_005002	Q16656	NRF1_HUMAN			11	1497	+			460			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1380G>C	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716661	0.68844	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	4.38	0.52667	Nuclear respiratory factor-1, activation binding domain (1);	0.061432	0.64402	D	0.000002	T	0.42063	0.1186	N	0.08118	0	0.53688	D	0.999972	B;B	0.32543	0.375;0.051	B;B	0.37480	0.251;0.064	T	0.43637	-0.9379	9	0.45353	T	0.12	-8.0797	14.9671	0.71201	0.0:0.1434:0.8566:0.0	.	479;460	Q96AN2;Q16656	.;NRF1_HUMAN	H	460;394;299;460;479;460;479	.	ENSP00000223190:Q460H	Q	+	3	2	NRF1	129182125	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.214000	0.72200	1.201000	0.43203	-0.305000	0.09177	CAG		0.627	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		11	74	0	0	0	0.001368	0	11	74				
KLF14	136259	broad.mit.edu	37	7	130417921	130417921	+	Missense_Mutation	SNP	C	C	T	rs145868754		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:130417921C>T	ENST00000310992.4	-	1	967	c.940G>A	c.(940-942)Ggc>Agc	p.G314S		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGCGCCGGGCCGGGACCGGAG	0.627																																							uc003vqk.1		NA																	0					0						c.(940-942)GGC>AGC		Kruppel-like factor 14							25.0	29.0	28.0					7																	130417921		2203	4300	6503	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130417921C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.940G>A	7.37:g.130417921C>T	ENSP00000310878:p.Gly314Ser						p.G314S	NM_138693	NP_619638	Q8TD94	KLF14_HUMAN			1	940	-	Melanoma(18;0.0435)		314					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.940G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756571	0.15846	.	.	ENSG00000174595	ENST00000310992	T	0.08546	3.08	4.73	1.73	0.24493	.	.	.	.	.	T	0.04770	0.0129	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.46105	-0.9215	9	0.02654	T	1	.	2.8375	0.05519	0.2:0.489:0.0:0.311	.	314	Q8TD94	KLF14_HUMAN	S	314	ENSP00000310878:G314S	ENSP00000310878:G314S	G	-	1	0	KLF14	130068461	0.009000	0.17119	0.002000	0.10522	0.100000	0.18952	0.130000	0.15850	0.585000	0.29608	-0.367000	0.07326	GGC		0.627	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		3	20	0	0	0	0.000602	0	3	20				
NUP205	23165	broad.mit.edu	37	7	135286203	135286203	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:135286203C>G	ENST00000285968.6	+	17	2486	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	820					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCTTGCTCTCAGTTTACTGG	0.408																																							uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2458-2460)CTC>CTG		nucleoporin 205kDa							213.0	202.0	205.0					7																	135286203		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135286203C>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2460C>G	7.37:g.135286203C>G							p.L820L	NM_015135	NP_055950	Q92621	NU205_HUMAN			17	2491	+			820					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2460C>G	CCDS34759.1																																																																																				0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			26	126	0	0	0	0.005443	0	26	126				
SLC13A4	26266	broad.mit.edu	37	7	135376328	135376328	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:135376328G>A	ENST00000354042.4	-	12	1975	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	429					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGGCTTCTTCGCTGGAATGAG	0.473																																							uc003vta.2		NA																	0					0						c.(1285-1287)GCG>GTG		solute carrier family 13 (sodium/sulfate							79.0	75.0	76.0					7																	135376328		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376328G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1286C>T	7.37:g.135376328G>A	ENSP00000297282:p.Ala429Val					SLC13A4_uc003vtb.2_Missense_Mutation_p.A430V|PL-5283_uc003vsz.3_RNA	p.A429V	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			12	1975	-			429			Helical; (Potential).		A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1286C>T	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527925	0.85706	.	.	ENSG00000164707	ENST00000354042	T	0.69685	-0.42	5.69	4.8	0.61643	.	0.049568	0.85682	D	0.000000	T	0.74764	0.3759	L	0.42632	1.34	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.77397	-0.2603	10	0.87932	D	0	-25.3582	13.7697	0.63018	0.0:0.0:0.8451:0.1549	.	298;429	Q59HF0;Q9UKG4	.;S13A4_HUMAN	V	429	ENSP00000297282:A429V	ENSP00000297282:A429V	A	-	2	0	SLC13A4	135026868	1.000000	0.71417	0.736000	0.30914	0.664000	0.39144	6.377000	0.73145	1.381000	0.46364	-0.181000	0.13052	GCG		0.473	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		4	59	0	0	0	0.001168	0	4	59				
PRSS3P2	154754	broad.mit.edu	37	7	142480049	142480049	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142480049G>A	ENST00000603901.1	+	0	181					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTGGTGTCAGCAGGTCACTG	0.577																																							uc011ksq.1		NA																	0					0						c.(181-183)GCA>ACA		SubName: Full=Protease, serine, 3; Flags: Fragment;							49.0	40.0	43.0					7																	142480049		692	1591	2283			154754							g.chr7:142480049G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480049G>A						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA	p.A61T	NR_001296						2	264	+									Missense_Mutation	SNP	ENST00000603901.1	37	c.181G>A																																																																																					0.577	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	61	0	0	0	0.007413	0	14	61				
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527																																							uc003wbx.1		NA																	0				ovary(2)	2						c.(2152-2154)GGG>AGG		transient receptor potential cation channel,							78.0	77.0	77.0					7																	142569486		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569486C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2152G>A	7.37:g.142569486C>T	ENSP00000352358:p.Gly718Arg					TRPV6_uc003wbw.1_Missense_Mutation_p.G504R|TRPV6_uc010lou.1_Missense_Mutation_p.G589R	p.G718R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			15	2368	-	Melanoma(164;0.059)		718			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2152G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917637	0.17982	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.56941	0.43	5.02	2.04	0.26737	.	0.953396	0.08758	N	0.898093	T	0.52191	0.1719	M	0.66939	2.045	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.46541	-0.9184	10	0.51188	T	0.08	-3.9733	11.4605	0.50208	0.4745:0.5255:0.0:0.0	.	718	Q9H1D0	TRPV6_HUMAN	R	718;550	ENSP00000352358:G718R	ENSP00000310825:G550R	G	-	1	0	TRPV6	142279608	0.001000	0.12720	0.025000	0.17156	0.302000	0.27658	1.177000	0.31969	0.090000	0.17273	-0.310000	0.09108	GGG		0.527	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		7	104	0	0	0	0.00308	0	7	104				
OR9A2	135924	broad.mit.edu	37	7	142724022	142724022	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142724022A>T	ENST00000350513.2	-	1	260	c.198T>A	c.(196-198)tcT>tcA	p.S66S		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TCTCCAGGGTAGAGAGGTGGC	0.458																																							uc003wcc.1		NA																	0				skin(1)	1						c.(196-198)TCT>TCA		olfactory receptor, family 9, subfamily A,							112.0	116.0	114.0					7																	142724022		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724022A>T		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.198T>A	7.37:g.142724022A>T							p.S66S	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	198	-	Melanoma(164;0.059)		66			Helical; Name=2; (Potential).		B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.198T>A	CCDS34767.1																																																																																				0.458	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			29	95	0	0	0	0.007291	0	29	95				
CLCN1	1180	broad.mit.edu	37	7	143018908	143018908	+	Silent	SNP	G	G	A	rs147317366	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143018908G>A	ENST00000343257.2	+	5	750	c.663G>A	c.(661-663)gcG>gcA	p.A221A	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	221					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGACTGCGGGCCTGGGCA	0.587													G|||	18	0.00359425	0.0	0.0029	5008	,	,		19161	0.0		0.0109	False		,,,				2504	0.0051						uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(661-663)GCG>GCA		chloride channel 1, skeletal muscle		G		4,4402		0,4,2199	55.0	47.0	50.0		663	-10.0	0.1	7	dbSNP_134	50	54,8546		0,54,4246	no	coding-synonymous	CLCN1	NM_000083.2		0,58,6445	AA,AG,GG		0.6279,0.0908,0.4459		221/989	143018908	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018908G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.663G>A	7.37:g.143018908G>A						CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Silent_p.A69A	p.A221A	NM_000083	NP_000074	P35523	CLCN1_HUMAN			5	750	+	Melanoma(164;0.205)		221			Helical; (By similarity).		A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.663G>A	CCDS5881.1																																																																																				0.587	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	60	0	0	0	0.009096	0	4	60				
CLCN1	1180	broad.mit.edu	37	7	143028329	143028329	+	Silent	SNP	C	C	A	rs375215812		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143028329C>A	ENST00000343257.2	+	9	1071	c.984C>A	c.(982-984)acC>acA	p.T328T		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	328					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTACAGTCACCATCACTGCTC	0.493																																							uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(982-984)ACC>ACA		chloride channel 1, skeletal muscle							156.0	144.0	148.0					7																	143028329		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028329C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.984C>A	7.37:g.143028329C>A						CLCN1_uc011ktc.1_5'UTR	p.T328T	NM_000083	NP_000074	P35523	CLCN1_HUMAN			9	1071	+	Melanoma(164;0.205)		328					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.984C>A	CCDS5881.1																																																																																				0.493	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		36	63	1	0	5.71845e-15	0.005524	7.17112e-15	36	63				
ZYX	7791	broad.mit.edu	37	7	143079711	143079711	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143079711A>T	ENST00000322764.5	+	4	779	c.434A>T	c.(433-435)gAt>gTt	p.D145V	ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Intron|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	145					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGCAGTATTGATTTGGAGATC	0.557																																							uc003wcw.2		NA																	0					0						c.(433-435)GAT>GTT		zyxin							204.0	199.0	201.0					7																	143079711		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079711A>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.434A>T	7.37:g.143079711A>T	ENSP00000324422:p.Asp145Val					ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Missense_Mutation_p.D145V|ZYX_uc011kte.1_Intron|ZYX_uc011ktf.1_5'UTR	p.D145V	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			4	589	+	Melanoma(164;0.205)		145					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.434A>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934912	0.52866	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235	T;T	0.62232	0.04;0.18	4.09	1.43	0.22495	.	0.297959	0.23635	N	0.046100	T	0.71290	0.3322	M	0.79258	2.445	0.80722	D	1	D	0.64830	0.994	P	0.61940	0.896	T	0.69647	-0.5089	10	0.87932	D	0	.	5.3045	0.15795	0.7281:0.1767:0.0952:0.0	.	145	Q15942	ZYX_HUMAN	V	145;114;145	ENSP00000324422:D145V;ENSP00000413467:D114V	ENSP00000324422:D145V	D	+	2	0	ZYX	142789833	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.486000	0.60286	0.434000	0.26340	0.459000	0.35465	GAT		0.557	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		14	217	0	0	0	0.003163	0	14	217				
OR2A12	346525	broad.mit.edu	37	7	143792215	143792215	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143792215G>T	ENST00000408949.2	+	1	75	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGCAATCAGACCTGGATCA	0.398																																							uc011kty.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(13-15)CAG>CAT		olfactory receptor, family 2, subfamily A,							105.0	100.0	101.0					7																	143792215		1863	4104	5967	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792215G>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.15G>T	7.37:g.143792215G>T	ENSP00000386174:p.Gln5His						p.Q5H	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	15	+	Melanoma(164;0.0783)		5			Extracellular (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.15G>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	1.665	-0.510443	0.04231	.	.	ENSG00000221858	ENST00000408949	T	0.00572	6.49	4.42	2.55	0.30701	.	.	.	.	.	T	0.00496	0.0016	N	0.17764	0.52	0.09310	N	1	B	0.31227	0.314	B	0.30316	0.114	T	0.49899	-0.8890	9	0.54805	T	0.06	-2.9556	6.3255	0.21240	0.3141:0.0:0.6859:0.0	.	5	Q8NGT7	O2A12_HUMAN	H	5	ENSP00000386174:Q5H	ENSP00000386174:Q5H	Q	+	3	2	OR2A12	143423148	0.000000	0.05858	0.489000	0.27452	0.004000	0.04260	-0.038000	0.12144	1.064000	0.40671	0.505000	0.49811	CAG		0.398	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			8	34	1	0	0.00307968	0.00308	0.0032006	8	34				
CNTNAP2	26047	broad.mit.edu	37	7	147183130	147183130	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:147183130A>G	ENST00000361727.3	+	11	2290	c.1774A>G	c.(1774-1776)Aac>Gac	p.N592D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	592	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCTGCCACAACTGTGAGTG	0.453										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1774-1776)AAC>GAC		cell recognition molecule Caspr2 precursor							96.0	90.0	92.0					7																	147183130		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183130A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1774A>G	7.37:g.147183130A>G	ENSP00000354778:p.Asn592Asp	HNSCC(39;0.1)					p.N592D	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2290	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	592			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1774A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858315	0.51376	.	.	ENSG00000174469	ENST00000361727	T	0.10477	2.87	5.89	5.89	0.94794	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.077295	0.51477	D	0.000093	T	0.10723	0.0262	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.12578	-1.0542	10	0.09843	T	0.71	.	15.1476	0.72671	1.0:0.0:0.0:0.0	.	592	Q9UHC6	CNTP2_HUMAN	D	592	ENSP00000354778:N592D	ENSP00000354778:N592D	N	+	1	0	CNTNAP2	146814063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.246000	0.74042	0.533000	0.62120	AAC		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			19	40	0	0	0	0.00278	0	19	40				
C7orf33	202865	broad.mit.edu	37	7	148311279	148311279	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:148311279G>C	ENST00000307003.2	+	2	711	c.350G>C	c.(349-351)aGg>aCg	p.R117T		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	117										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGGCACCAGGATGGGCTTG	0.537																																							uc003wew.2		NA																	0				central_nervous_system(1)	1						c.(349-351)AGG>ACG		hypothetical protein LOC202865							129.0	102.0	111.0					7																	148311279		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148311279G>C	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.350G>C	7.37:g.148311279G>C	ENSP00000304071:p.Arg117Thr						p.R117T	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	711	+	Melanoma(164;0.15)		117						Missense_Mutation	SNP	ENST00000307003.2	37	c.350G>C	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	8.694	0.908112	0.17833	.	.	ENSG00000170279	ENST00000307003	.	.	.	0.963	0.963	0.19649	.	.	.	.	.	T	0.14399	0.0348	N	0.19112	0.55	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.16041	-1.0416	8	0.87932	D	0	.	5.236	0.15446	0.0:0.0:1.0:0.0	.	117	Q8WU49	CG033_HUMAN	T	117	.	ENSP00000304071:R117T	R	+	2	0	C7orf33	147942212	0.003000	0.15002	0.002000	0.10522	0.415000	0.31203	0.705000	0.25675	0.794000	0.33899	0.462000	0.41574	AGG		0.537	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		13	71	0	0	0	0.00245	0	13	71				
ZNF777	27153	broad.mit.edu	37	7	149129388	149129388	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:149129388T>C	ENST00000247930.4	-	6	2298	c.1975A>G	c.(1975-1977)Acg>Gcg	p.T659A		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCACCCGTGTGCGTGATC	0.632																																							uc003wfv.2		NA																	0				skin(1)	1						c.(1975-1977)ACG>GCG		zinc finger protein 777							95.0	108.0	104.0					7																	149129388		2187	4286	6473	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129388T>C	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1975A>G	7.37:g.149129388T>C	ENSP00000247930:p.Thr659Ala						p.T659A	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2138	-	Melanoma(164;0.165)		659					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1975A>G	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906572	0.52333	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.26518	1.73	5.02	5.02	0.67125	.	0.000000	0.51477	D	0.000087	T	0.24812	0.0602	L	0.50919	1.6	0.35819	D	0.824455	B	0.32338	0.365	B	0.34824	0.19	T	0.35251	-0.9796	10	0.87932	D	0	-19.5812	8.2462	0.31691	0.1773:0.0:0.0:0.8227	.	659	Q9ULD5-2	.	A	659;402	ENSP00000247930:T659A	ENSP00000247930:T659A	T	-	1	0	ZNF777	148760321	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.185000	0.42584	1.888000	0.54679	0.377000	0.23210	ACG		0.632	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		30	194	0	0	0	0.002096	0	30	194				
KRBA1	84626	broad.mit.edu	37	7	149426440	149426440	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:149426440T>C	ENST00000255992.10	+	14	2186	c.1787T>C	c.(1786-1788)gTg>gCg	p.V596A	KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	597										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGCCAGGAGTGTGGAGGTGG	0.617																																							uc003wfz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1789-1791)GTG>GCG		KRAB A domain containing 1							13.0	17.0	16.0					7																	149426440		1990	4141	6131	SO:0001583	missense	84626							g.chr7:149426440T>C	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000255992.10:c.1787T>C	7.37:g.149426440T>C	ENSP00000255992:p.Val596Ala					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	p.V597A	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		14	2189	+	Melanoma(164;0.165)|Ovarian(565;0.177)		597					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000255992.10	37	c.1790T>C		.	.	.	.	.	.	.	.	.	.	T	0.389	-0.924605	0.02377	.	.	ENSG00000133619	ENST00000255992	T	0.29397	1.57	3.77	0.865	0.19074	.	1.342390	0.05063	N	0.480246	T	0.14141	0.0342	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23940	-1.0174	9	0.10902	T	0.67	-0.0026	3.263	0.06855	0.2013:0.5772:0.0:0.2215	.	597	A5PL33	KRBA1_HUMAN	A	596	ENSP00000255992:V596A	ENSP00000255992:V596A	V	+	2	0	KRBA1	149057373	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.963000	0.03837	0.180000	0.19960	-0.899000	0.02877	GTG		0.617	KRBA1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032534		6	11	0	0	0	0.001168	0	6	11				
SSPO	23145	broad.mit.edu	37	7	149474866	149474866	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:149474866C>T	ENST00000378016.2	+	0	665							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TACCTGCTGGCGGGTGCTGCG	0.687																																							uc010lpk.2		NA																	0					0						c.(664-666)GCG>GTG		SCO-spondin precursor							15.0	18.0	17.0					7																	149474866		2036	4166	6202			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474866C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474866C>T						SSPO_uc010lpl.1_Intron	p.A222V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	665	+	Melanoma(164;0.165)|Ovarian(565;0.177)		222			VWFD 1.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.665C>T																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	11	0	0	0	0.009096	0	3	11				
GIMAP6	474344	broad.mit.edu	37	7	150325462	150325462	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:150325462A>G	ENST00000328902.5	-	3	440	c.224T>C	c.(223-225)gTg>gCg	p.V75A	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	75	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCTTGGTCACGGGTCTGGT	0.577																																							uc003whn.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(223-225)GTG>GCG		GTPase, IMAP family member 6							164.0	168.0	167.0					7																	150325462		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325462A>G	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.224T>C	7.37:g.150325462A>G	ENSP00000330374:p.Val75Ala					GIMAP6_uc003whm.2_Intron	p.V75A	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	648	-			75					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.224T>C	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171664	0.78452	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.11495	2.77	4.29	4.29	0.51040	AIG1 (1);	0.300651	0.31859	N	0.006960	T	0.33933	0.0880	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.14755	-1.0461	10	0.87932	D	0	.	9.7378	0.40399	1.0:0.0:0.0:0.0	.	75	Q6P9H5	GIMA6_HUMAN	A	75;136	ENSP00000330374:V75A	ENSP00000330374:V75A	V	-	2	0	GIMAP6	149956395	0.052000	0.20516	0.972000	0.41901	0.011000	0.07611	1.839000	0.39220	1.820000	0.53075	0.459000	0.35465	GTG		0.577	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		46	202	0	0	0	0.002522	0	46	202				
GIMAP2	26157	broad.mit.edu	37	7	150389519	150389519	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:150389519G>C	ENST00000223293.5	+	3	239	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	49	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAGCATTTGAATCGAAGCT	0.478																																							uc003who.2		NA																	0				skin(1)	1						c.(145-147)GAA>CAA		GTPase, IMAP family member 2							75.0	71.0	72.0					7																	150389519		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389519G>C	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.145G>C	7.37:g.150389519G>C	ENSP00000223293:p.Glu49Gln					GIMAP1_uc003whp.2_Intron	p.E49Q	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	233	+			49					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.145G>C	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902499	0.17760	.	.	ENSG00000106560	ENST00000223293	T	0.61627	0.09	3.8	1.69	0.24217	AIG1 (1);	0.303339	0.30639	N	0.009195	T	0.48447	0.1500	L	0.55213	1.73	0.40221	D	0.97773	B	0.22003	0.063	B	0.26310	0.068	T	0.41645	-0.9497	10	0.26408	T	0.33	.	9.2623	0.37619	0.0:0.4367:0.5633:0.0	.	49	Q9UG22	GIMA2_HUMAN	Q	49	ENSP00000223293:E49Q	ENSP00000223293:E49Q	E	+	1	0	GIMAP2	150020452	0.000000	0.05858	0.225000	0.23894	0.204000	0.24138	-0.415000	0.07106	0.908000	0.36671	0.609000	0.83330	GAA		0.478	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		7	57	0	0	0	0.001984	0	7	57				
ABCF2	10061	broad.mit.edu	37	7	150921105	150921105	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:150921105C>A	ENST00000287844.2	-	4	572	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.D155Y	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	155	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGTCTTGTCACTAGGGGGC	0.557																																							uc003wjp.2		NA																	0				central_nervous_system(1)	1						c.(463-465)GAC>TAC		ATP-binding cassette, sub-family F, member 2							120.0	102.0	108.0					7																	150921105		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921105C>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.463G>T	7.37:g.150921105C>A	ENSP00000287844:p.Asp155Tyr					ABCF2_uc003wjo.1_Missense_Mutation_p.D155Y	p.D155Y	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	574	-			155			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.463G>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488324	0.96323	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.92911	-3.08;-3.13;3.79;3.79	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.220386	0.53938	D	0.000048	D	0.97040	0.9033	M	0.93854	3.465	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.62885	0.835;0.908	D	0.97561	1.0098	10	0.87932	D	0	-3.7129	19.0707	0.93134	0.0:1.0:0.0:0.0	.	155;155	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	Y	155	ENSP00000222388:D155Y;ENSP00000287844:D155Y;ENSP00000419720:D155Y;ENSP00000395785:D155Y	ENSP00000222388:D155Y	D	-	1	0	ABCF2	150552038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.549000	0.82163	2.746000	0.94184	0.655000	0.94253	GAC		0.557	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		16	69	1	0	1.15088e-07	0.004007	1.31589e-07	16	69				
KMT2C	58508	broad.mit.edu	37	7	151921652	151921652	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:151921652A>G	ENST00000262189.6	-	19	3244	c.3026T>C	c.(3025-3027)gTg>gCg	p.V1009A	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1009A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1009					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCCTCACACACAGTGCACTC	0.448																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3025-3027)GTG>GCG		myeloid/lymphoid or mixed-lineage leukemia 3							17.0	16.0	16.0					7																	151921652		2182	4271	6453	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151921652A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3026T>C	7.37:g.151921652A>G	ENSP00000262189:p.Val1009Ala					MLL3_uc003wkz.2_Missense_Mutation_p.V70A	p.V1009A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	19	3245	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1009			PHD-type 5.|PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3026T>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607955	0.66558	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.88	4.84	4.84	0.62591	Zinc finger, PHD-finger (3);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41712	D	0.000828	D	0.91257	0.7244	M	0.72353	2.195	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.99	D	0.92344	0.5884	10	0.87932	D	0	.	14.4111	0.67115	1.0:0.0:0.0:0.0	.	1009;70	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	1009	ENSP00000262189:V1009A;ENSP00000347325:V1009A	ENSP00000262189:V1009A	V	-	2	0	MLL3	151552585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.277000	0.95755	1.813000	0.52934	0.528000	0.53228	GTG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	31	0	0	0	0.000602	0	5	31				
ESYT2	57488	broad.mit.edu	37	7	158552753	158552753	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:158552753T>A	ENST00000251527.5	-	12	1528	c.1463A>T	c.(1462-1464)gAc>gTc	p.D488V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	516					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CAGCACCTTGTCGAGGTTTGA	0.448																																							uc003wob.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(1462-1464)GAC>GTC		family with sequence similarity 62 (C2 domain							157.0	126.0	137.0					7																	158552753		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158552753T>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1463A>T	7.37:g.158552753T>A	ENSP00000251527:p.Asp488Val					ESYT2_uc003woc.1_Missense_Mutation_p.D312V|ESYT2_uc003wod.1_Missense_Mutation_p.D488V|ESYT2_uc003woa.1_Missense_Mutation_p.D44V	p.D488V	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			12	1529	-			516					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1463A>T	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878431	0.33162	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.24151	1.87;1.94	4.9	4.9	0.64082	.	0.152719	0.64402	D	0.000016	T	0.34250	0.0891	L	0.55481	1.735	0.80722	D	1	P;P	0.51791	0.716;0.948	B;P	0.48982	0.394;0.597	T	0.15578	-1.0432	10	0.72032	D	0.01	-9.2129	14.0048	0.64456	0.0:0.0:0.0:1.0	.	516;488	A0FGR8-6;A0FGR8-2	.;.	V	488;516;458;312	ENSP00000251527:D488V;ENSP00000275418:D458V	ENSP00000251527:D488V	D	-	2	0	ESYT2	158245514	1.000000	0.71417	0.063000	0.19743	0.011000	0.07611	5.229000	0.65316	1.960000	0.56953	0.477000	0.44152	GAC		0.448	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		10	49	0	0	0	0.000978	0	10	49				
ARHGEF10	9639	broad.mit.edu	37	8	1824883	1824883	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:1824883A>C	ENST00000398564.1	+	8	901	c.901A>C	c.(901-903)Agc>Cgc	p.S301R	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S277R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S276R|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S301R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S301R|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S301R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	301					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTTCCTGCGCAGCAACCACAA	0.502																																							uc003wpr.2		NA																	0				large_intestine(1)	1						c.(826-828)AGC>CGC		Rho guanine nucleotide exchange factor 10							156.0	129.0	138.0					8																	1824883		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1824883A>C	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.901A>C	8.37:g.1824883A>C	ENSP00000381571:p.Ser301Arg					ARHGEF10_uc003wpq.1_Missense_Mutation_p.S301R|ARHGEF10_uc003wps.2_Missense_Mutation_p.S277R|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S191R|ARHGEF10_uc003wpv.2_Missense_Mutation_p.S48R	p.S276R	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	8	1004	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	301					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.826A>C		.	.	.	.	.	.	.	.	.	.	A	7.309	0.614649	0.14129	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.65732	0.31;0.26;0.31;-0.17;0.31;0.3	5.04	-3.64	0.04515	.	0.236055	0.43416	D	0.000579	T	0.42810	0.1219	N	0.19112	0.55	0.35894	D	0.829898	B;B;B;B	0.14012	0.003;0.001;0.006;0.009	B;B;B;B	0.17979	0.002;0.004;0.004;0.02	T	0.15521	-1.0434	10	0.40728	T	0.16	-7.1126	14.5766	0.68252	0.211:0.0:0.789:0.0	.	301;301;277;276	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	R	276;277;301;301;301;301	ENSP00000340297:S276R;ENSP00000427909:S277R;ENSP00000431012:S301R;ENSP00000381568:S301R;ENSP00000381571:S301R;ENSP00000262112:S301R	ENSP00000262112:S301R	S	+	1	0	ARHGEF10	1812290	0.983000	0.35010	0.302000	0.25058	0.487000	0.33371	1.026000	0.30103	-0.592000	0.05851	-0.451000	0.05528	AGC		0.502	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				9	104	0	0	0	0.008291	0	9	104				
MYOM2	9172	broad.mit.edu	37	8	2041800	2041800	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2041800C>T	ENST00000262113.4	+	17	2148	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	MYOM2_ENST00000523438.1_Silent_p.F94F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	669	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTCTCAGGTTCGTGGTGCACG	0.498																																							uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2005-2007)TTC>TTT		myomesin 2							133.0	110.0	118.0					8																	2041800		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041800C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2007C>T	8.37:g.2041800C>T						MYOM2_uc011kwi.1_Silent_p.F94F	p.F669F	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2145	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	669			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2007C>T	CCDS5957.1																																																																																				0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	86	0	0	0	0.000978	0	11	86				
CSMD1	64478	broad.mit.edu	37	8	2857501	2857501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2857501C>A	ENST00000520002.1	-	54	8740	c.8185G>T	c.(8185-8187)Gga>Tga	p.G2729*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2671*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2671*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2670*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G2729*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2728*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2729	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GGCGTTTGTCCAGACCACTTG	0.473																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8185-8187)GGA>TGA		CUB and Sushi multiple domains 1 precursor							174.0	171.0	172.0					8																	2857501		1979	4159	6138	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2857501C>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.8185G>T	8.37:g.2857501C>A	ENSP00000430733:p.Gly2729*					CSMD1_uc011kwj.1_Nonsense_Mutation_p.G2058*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.G739*	p.G2729*	NM_033225	NP_150094	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)	53	8575	-		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)	2729			Extracellular (Potential).|Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.8185G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.332771|15.332771	0.99830|0.99830	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77370	.|0.4120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73820	.|-0.3862	.|4	0.56958|.	D|.	0.05|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2671;2729;2590;2728;2670|2145	.|.	ENSP00000320445:G2590X|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	2844908|2844908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.297000|0.297000	0.27493|0.27493	7.612000|7.612000	0.82975|0.82975	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		36	127	1	0	8.69298e-16	0.006999	1.09343e-15	36	127				
SGK223	157285	broad.mit.edu	37	8	8234784	8234784	+	Missense_Mutation	SNP	C	C	T	rs372386421		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:8234784C>T	ENST00000520004.1	-	3	1399	c.1135G>A	c.(1135-1137)Ggc>Agc	p.G379S	SGK223_ENST00000330777.4_Missense_Mutation_p.G379S			Q86YV5	SG223_HUMAN		381							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCTGGGCAGCCAGGGTCCTGC	0.682																																					GBM(34;731 755 10259 33573 33867)	GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(1135-1137)GGC>AGC		pragmin							14.0	18.0	17.0					8																	8234784		1878	4061	5939	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234784C>T																												ENST00000520004.1:c.1135G>A	8.37:g.8234784C>T	ENSP00000428054:p.Gly379Ser						p.G379S	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	1135	-			379					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1135G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	9.761	1.170060	0.21621	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57436	0.4;0.4	5.29	3.42	0.39159	.	0.717257	0.12966	N	0.424593	T	0.33731	0.0873	N	0.19112	0.55	0.09310	N	0.999999	B	0.27498	0.18	B	0.20767	0.031	T	0.15122	-1.0448	10	0.27082	T	0.32	.	8.4534	0.32884	0.1515:0.769:0.0:0.0794	.	379	Q86YV5	SG223_HUMAN	S	379	ENSP00000330930:G379S;ENSP00000428054:G379S	ENSP00000330930:G379S	G	-	1	0	AC068353.1	8272194	0.000000	0.05858	0.334000	0.25495	0.293000	0.27360	0.185000	0.16958	0.669000	0.31146	0.655000	0.94253	GGC		0.682	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			12	32	0	0	0	0.001368	0	12	32				
RP1L1	94137	broad.mit.edu	37	8	10470481	10470481	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10470481A>G	ENST00000382483.3	-	4	1350	c.1127T>C	c.(1126-1128)tTc>tCc	p.F376S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	376					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCTGAGAAGCCCCAAGG	0.677																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1126-1128)TTC>TCC		retinitis pigmentosa 1-like 1							44.0	50.0	48.0					8																	10470481		1880	4095	5975	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470481A>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1127T>C	8.37:g.10470481A>G	ENSP00000371923:p.Phe376Ser						p.F376S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1356	-			376					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1127T>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934500	0.18206	.	.	ENSG00000183638	ENST00000382483	T	0.03663	3.85	5.2	-5.63	0.02474	.	1.278800	0.06031	N	0.653139	T	0.02083	0.0065	N	0.11427	0.14	0.09310	N	1	B	0.18013	0.025	B	0.15484	0.013	T	0.49234	-0.8961	10	0.20046	T	0.44	0.5308	9.6824	0.40078	0.1981:0.4268:0.3752:0.0	.	376	A6NKC6	.	S	376	ENSP00000371923:F376S	ENSP00000371923:F376S	F	-	2	0	RP1L1	10507891	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.353000	0.20130	-1.007000	0.03408	-0.396000	0.06452	TTC		0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			22	125	0	0	0	0.00278	0	22	125				
SOX7	83595	broad.mit.edu	37	8	10583693	10583693	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10583693G>A	ENST00000304501.1	-	2	800	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SOX7_ENST00000554914.1_Missense_Mutation_p.P293L|SOX7_ENST00000553390.1_Missense_Mutation_p.P293L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	241					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGGTGAGTACGGGTGCCCTGG	0.687																																							uc003wtf.2		NA																	0				breast(1)	1						c.(721-723)CCG>CTG		SRY-box 7																																				SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583693G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.722C>T	8.37:g.10583693G>A	ENSP00000301921:p.Pro241Leu					SOX7_uc011kwz.1_Missense_Mutation_p.P293L	p.P241L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	801	-			241					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.722C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521611	0.13005	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76839	-1.05;-1.05;-1.05	4.89	1.86	0.25419	.	0.350668	0.30547	N	0.009381	T	0.73016	0.3533	M	0.71036	2.16	0.32799	N	0.5001	B;B	0.25743	0.133;0.024	B;B	0.25140	0.058;0.021	T	0.72364	-0.4316	10	0.35671	T	0.21	.	10.2278	0.43236	0.0:0.2767:0.5801:0.1432	.	293;241	B4DKV0;Q9BT81	.;SOX7_HUMAN	L	241;293;293	ENSP00000301921:P241L;ENSP00000452017:P293L;ENSP00000451145:P293L	ENSP00000346908:P293L	P	-	2	0	SOX7;CTD-2135J3.4	10621103	0.998000	0.40836	0.425000	0.26659	0.019000	0.09904	2.780000	0.47742	0.458000	0.26988	-0.360000	0.07572	CCG		0.687	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			12	31	0	0	0	0.004007	0	12	31				
XKR6	286046	broad.mit.edu	37	8	10756150	10756150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10756150C>T	ENST00000416569.2	-	3	1264	c.1238G>A	c.(1237-1239)tGg>tAg	p.W413*	XKR6_ENST00000304437.2_Nonsense_Mutation_p.W134*	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	413						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATCTCCTCCCACTTGGACAT	0.488																																							uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(1237-1239)TGG>TAG		XK, Kell blood group complex subunit-related							97.0	89.0	92.0					8																	10756150		2203	4300	6503	SO:0001587	stop_gained	286046					integral to membrane		g.chr8:10756150C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1238G>A	8.37:g.10756150C>T	ENSP00000416707:p.Trp413*						p.W413*	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1265	-			413			Helical; (Potential).		Q8TBA0	Nonsense_Mutation	SNP	ENST00000416569.2	37	c.1238G>A	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.786345|4.786345	0.90367|0.90367	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45994|.	0.1370|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36311|.	-0.9753|.	4|.	.|0.02654	.|T	.|1	-0.0466|-0.0466	17.8783|17.8783	0.88831|0.88831	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	190|134;413	.|.	.|ENSP00000307120:W134X	G|W	-|-	1|2	0|0	XKR6|XKR6	10793560|10793560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.457000|2.457000	0.83068|0.83068	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.488	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		9	30	0	0	0	0.004482	0	9	30				
PCM1	5108	broad.mit.edu	37	8	17823602	17823602	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:17823602C>A	ENST00000519253.1	+	19	3201	c.2950C>A	c.(2950-2952)Ctt>Att	p.L984I	PCM1_ENST00000524226.1_Missense_Mutation_p.L985I|PCM1_ENST00000325083.8_Missense_Mutation_p.L984I			Q15154	PCM1_HUMAN	pericentriolar material 1	984					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCAAGAAAACCTTCGTTGGGT	0.403			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(2950-2952)CTT>ATT		pericentriolar material 1							103.0	100.0	101.0					8																	17823602		1908	4125	6033	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17823602C>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2950C>A	8.37:g.17823602C>A	ENSP00000431099:p.Leu984Ile					PCM1_uc011kyh.1_Missense_Mutation_p.L984I|PCM1_uc003wyj.3_Missense_Mutation_p.L985I	p.L984I	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	19	3372	+			984					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2950C>A		.	.	.	.	.	.	.	.	.	.	C	19.53	3.845829	0.71603	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.20200	2.09;2.09;2.09	5.61	4.67	0.58626	.	0.313877	0.35436	N	0.003213	T	0.09291	0.0229	N	0.19112	0.55	0.80722	D	1	P;P;P	0.38078	0.617;0.617;0.617	B;B;B	0.26969	0.075;0.075;0.075	T	0.13072	-1.0523	10	0.23302	T	0.38	-14.7685	6.8577	0.24050	0.0:0.6929:0.1593:0.1478	.	984;985;984	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	I	984;984;985	ENSP00000327077:L984I;ENSP00000431099:L984I;ENSP00000430521:L985I	ENSP00000327077:L984I	L	+	1	0	PCM1	17867882	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.589000	0.36644	2.826000	0.97356	0.655000	0.94253	CTT		0.403	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	30	1	0	0.000602214	0.000602	0.000638666	5	30				
PCM1	5108	broad.mit.edu	37	8	17823622	17823622	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:17823622C>G	ENST00000519253.1	+	19	3221	c.2970C>G	c.(2968-2970)ctC>ctG	p.L990L	PCM1_ENST00000524226.1_Silent_p.L991L|PCM1_ENST00000325083.8_Silent_p.L990L			Q15154	PCM1_HUMAN	pericentriolar material 1	990					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTCAGAGCTCTCTTACGTAG	0.413			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(2968-2970)CTC>CTG		pericentriolar material 1							105.0	102.0	103.0					8																	17823622		1891	4123	6014	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17823622C>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2970C>G	8.37:g.17823622C>G						PCM1_uc011kyh.1_Silent_p.L990L|PCM1_uc003wyj.3_Silent_p.L991L	p.L990L	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	19	3392	+			990					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37	c.2970C>G																																																																																					0.413	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	21	0	0	0	0.004672	0	3	21				
NEFM	4741	broad.mit.edu	37	8	24776003	24776003	+	Missense_Mutation	SNP	G	G	A	rs140995374		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:24776003G>A	ENST00000221166.5	+	3	3417	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I	NEFM_ENST00000518131.1_Missense_Mutation_p.V661I|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.V503I|NEFM_ENST00000437366.2_Missense_Mutation_p.V840I			P07197	NFM_HUMAN	neurofilament, medium polypeptide	879	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTGTAACCGTCACTCAAAA	0.413																																							uc003xed.3		NA																	0				breast(1)	1						c.(2635-2637)GTC>ATC		neurofilament, medium polypeptide 150kDa isoform		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	91.0	91.0		1507,2635	4.1	1.0	8	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	NEFM	NM_001105541.1,NM_005382.2	29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	503/541,879/917	24776003	3,13003	2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24776003G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2635G>A	8.37:g.24776003G>A	ENSP00000221166:p.Val879Ile					NEFM_uc011lac.1_Missense_Mutation_p.V661I|NEFM_uc010lue.2_Missense_Mutation_p.V503I	p.V879I	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2668	+		Prostate(55;0.157)	879			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2635G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410402	0.42715	2.27E-4	2.33E-4	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.97642	-3.16;-2.84;-3.0;-4.47	5.0	4.13	0.48395	.	0.000000	0.40640	N	0.001058	D	0.94311	0.8172	M	0.68952	2.095	0.58432	D	0.999993	B;P	0.48230	0.119;0.907	B;B	0.30316	0.021;0.114	D	0.93279	0.6658	10	0.87932	D	0	.	13.3374	0.60524	0.077:0.0:0.923:0.0	.	661;879	E7EMV2;P07197	.;NFM_HUMAN	I	879;661;840;503	ENSP00000221166:V879I;ENSP00000427872:V661I;ENSP00000410137:V840I;ENSP00000412295:V503I	ENSP00000221166:V879I	V	+	1	0	NEFM	24831908	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.448000	0.80631	1.112000	0.41740	-0.373000	0.07131	GTC		0.413	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		10	64	0	0	0	0.008291	0	10	64				
GOT1L1	137362	broad.mit.edu	37	8	37794833	37794833	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:37794833G>C	ENST00000307599.4	-	4	580	c.481C>G	c.(481-483)Cta>Gta	p.L161V	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	161					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCATGCATAGCTTCTTGGGG	0.542																																							uc011lbj.1		NA																	0				ovary(1)	1						c.(481-483)CTA>GTA		glutamic-oxaloacetic transaminase 1-like 1							51.0	50.0	50.0					8																	37794833		1889	4110	5999	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794833G>C	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.481C>G	8.37:g.37794833G>C	ENSP00000303077:p.Leu161Val						p.L161V	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	581	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	161					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.481C>G	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574372	0.45902	.	.	ENSG00000169154	ENST00000307599	D	0.90444	-2.67	5.04	1.9	0.25705	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.511841	0.17570	N	0.169510	D	0.85575	0.5728	L	0.37630	1.12	0.09310	N	0.999999	P	0.34864	0.473	B	0.38106	0.265	T	0.75886	-0.3159	10	0.42905	T	0.14	-1.9603	10.2916	0.43599	0.0:0.0:0.4419:0.5581	.	161	Q8NHS2	AATC2_HUMAN	V	161	ENSP00000303077:L161V	ENSP00000303077:L161V	L	-	1	2	GOT1L1	37913990	0.662000	0.27439	0.025000	0.17156	0.609000	0.37215	1.403000	0.34612	0.471000	0.27319	0.549000	0.68633	CTA		0.542	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		4	9	0	0	0	0.000602	0	4	9				
SNTG1	54212	broad.mit.edu	37	8	51617225	51617225	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:51617225G>A	ENST00000522124.1	+	16	1765	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	SNTG1_ENST00000517473.1_Silent_p.L368L|SNTG1_ENST00000518864.1_Silent_p.L368L|SNTG1_ENST00000276467.5_Silent_p.L368L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	368	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGGAGGACCTGTACTTCTCAG	0.547																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1102-1104)CTG>CTA		syntrophin, gamma 1							144.0	117.0	126.0					8																	51617225		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617225G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1104G>A	8.37:g.51617225G>A						SNTG1_uc003xqs.1_Silent_p.L368L|SNTG1_uc010lxz.1_Silent_p.L368L|SNTG1_uc011ldl.1_RNA	p.L368L	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			17	1475	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	368			PH.		Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1104G>A	CCDS6147.1																																																																																				0.547	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			38	31	0	0	0	0.006999	0	38	31				
PXDNL	137902	broad.mit.edu	37	8	52359577	52359577	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:52359577A>G	ENST00000356297.4	-	12	1612	c.1512T>C	c.(1510-1512)acT>acC	p.T504T	PXDNL_ENST00000543296.1_Silent_p.T504T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	504	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGTTTTACAGTCAGCTGCA	0.438																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1510-1512)ACT>ACC		peroxidasin homolog-like precursor							152.0	150.0	151.0					8																	52359577		1994	4164	6158	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359577A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1512T>C	8.37:g.52359577A>G							p.T504T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			12	1613	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	504			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1512T>C	CCDS47855.1																																																																																				0.438	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		35	102	0	0	0	0.005524	0	35	102				
SOX17	64321	broad.mit.edu	37	8	55370831	55370831	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:55370831A>G	ENST00000297316.4	+	1	337	c.133A>G	c.(133-135)Aag>Gag	p.K45E		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	45					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CATGAAGGTGAAGGGCGAGGC	0.736																																							uc003xsb.3		NA																	0				lung(1)	1						c.(133-135)AAG>GAG		SRY-box 17							7.0	10.0	9.0					8																	55370831		2143	4192	6335	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55370831A>G	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.133A>G	8.37:g.55370831A>G	ENSP00000297316:p.Lys45Glu						p.K45E	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		1	337	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	45						Missense_Mutation	SNP	ENST00000297316.4	37	c.133A>G	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	A	34	5.299660	0.95574	.	.	ENSG00000164736	ENST00000297316	D	0.97232	-4.3	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.74881	2.28	0.51233	D	0.999917	D	0.89917	1.0	D	0.68765	0.96	D	0.97981	1.0349	10	0.51188	T	0.08	.	13.1373	0.59417	1.0:0.0:0.0:0.0	.	45	Q9H6I2	SOX17_HUMAN	E	45	ENSP00000297316:K45E	ENSP00000297316:K45E	K	+	1	0	SOX17	55533384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.658000	0.68003	1.995000	0.58328	0.459000	0.35465	AAG		0.736	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			4	12	0	0	0	0.009096	0	4	12				
TGS1	96764	broad.mit.edu	37	8	56715024	56715024	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:56715024A>G	ENST00000260129.5	+	9	2335	c.1858A>G	c.(1858-1860)Aaa>Gaa	p.K620E		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	620	Lys-rich.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGCTGAAGTgaaaaagaagaa	0.358																																					Esophageal Squamous(34;275 823 4842 34837 48447)	Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1858-1860)AAA>GAA		trimethylguanosine synthase homolog							51.0	51.0	51.0					8																	56715024		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56715024A>G	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1858A>G	8.37:g.56715024A>G	ENSP00000260129:p.Lys620Glu					TGS1_uc010lyh.2_Missense_Mutation_p.K524E	p.K620E	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		9	2245	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	620			Lys-rich.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1858A>G	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038745	0.35989	.	.	ENSG00000137574	ENST00000260129	T	0.12147	2.71	5.84	5.84	0.93424	.	0.357757	0.27654	N	0.018410	T	0.16896	0.0406	L	0.50333	1.59	0.50813	D	0.999892	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.01456	-1.1350	10	0.46703	T	0.11	-4.8019	16.2224	0.82265	1.0:0.0:0.0:0.0	.	620;620	B2RBJ7;Q96RS0	.;TGS1_HUMAN	E	620	ENSP00000260129:K620E	ENSP00000260129:K620E	K	+	1	0	TGS1	56877578	0.996000	0.38824	0.223000	0.23860	0.282000	0.26991	3.548000	0.53670	2.236000	0.73375	0.528000	0.53228	AAA		0.358	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		11	43	0	0	0	0.000978	0	11	43				
NKAIN3	286183	broad.mit.edu	37	8	63492148	63492148	+	Silent	SNP	G	G	T	rs372067746		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:63492148G>T	ENST00000523211.1	+	2	237	c.105G>T	c.(103-105)gcG>gcT	p.A35A	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.A35A	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCCAGTGGGCGCCTATTCTTG	0.378																																							uc010lyq.1		NA																	0					0						c.(103-105)GCG>GCT		Na+/K+ transporting ATPase interacting 3							173.0	168.0	170.0					8																	63492148		1833	4087	5920	SO:0001819	synonymous_variant	286183					integral to membrane|plasma membrane		g.chr8:63492148G>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.105G>T	8.37:g.63492148G>T							p.A35A	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			2	237	+	Breast(64;0.127)	Lung NSC(129;0.187)	35			Helical; (Potential).			Silent	SNP	ENST00000523211.1	37	c.105G>T	CCDS55239.1																																																																																				0.378	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		49	71	1	0	6.31075e-24	0.00361	8.20332e-24	49	71				
CSPP1	79848	broad.mit.edu	37	8	68062151	68062151	+	Missense_Mutation	SNP	T	T	G	rs563258922		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:68062151T>G	ENST00000262210.5	+	16	2125	c.2094T>G	c.(2092-2094)gaT>gaG	p.D698E	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	733					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCTAGAAGATGCTGCAAATA	0.323																																							uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(2197-2199)GAT>GAG		centrosome spindle pole associated protein 1							157.0	149.0	152.0					8																	68062151		1829	4077	5906	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68062151T>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2094T>G	8.37:g.68062151T>G	ENSP00000262210:p.Asp698Glu					CSPP1_uc003xxg.1_Missense_Mutation_p.D725E|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D698E|CSPP1_uc003xxk.2_Intron	p.D733E	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		18	2230	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	733					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2199T>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430979	0.43122	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.31247	1.5	5.96	4.82	0.62117	.	0.700734	0.10749	U	0.638619	T	0.36358	0.0964	L	0.36672	1.1	0.80722	D	1	P;D;D	0.76494	0.94;0.999;0.997	P;D;D	0.68621	0.647;0.959;0.941	T	0.36432	-0.9748	10	0.08599	T	0.76	-18.204	4.3862	0.11318	0.1455:0.1535:0.0:0.701	.	698;733;733	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	E	698;733	ENSP00000262210:D698E	ENSP00000262210:D698E	D	+	3	2	CSPP1	68224705	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.410000	0.34691	1.089000	0.41292	0.528000	0.53228	GAT		0.323	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		41	114	0	0	0	0.00623	0	41	114				
KCNB2	9312	broad.mit.edu	37	8	73480526	73480526	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:73480526C>A	ENST00000523207.1	+	2	1145	c.557C>A	c.(556-558)cCt>cAt	p.P186H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	186					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGGAGAAACCTAACTCATCA	0.448																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(556-558)CCT>CAT		potassium voltage-gated channel, Shab-related							73.0	78.0	76.0					8																	73480526		2200	4298	6498	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480526C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.557C>A	8.37:g.73480526C>A	ENSP00000430846:p.Pro186His						p.P186H	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1145	+	Breast(64;0.137)		186			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.557C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639573	0.67244	.	.	ENSG00000182674	ENST00000523207	D	0.98550	-4.99	5.77	3.99	0.46301	.	0.605722	0.13747	U	0.365549	D	0.99137	0.9702	H	0.94183	3.505	0.53688	D	0.999977	D	0.76494	0.999	D	0.67900	0.954	D	0.98385	1.0560	10	0.87932	D	0	.	12.4049	0.55434	0.0:0.8624:0.0:0.1376	.	186	Q92953	KCNB2_HUMAN	H	186	ENSP00000430846:P186H	ENSP00000430846:P186H	P	+	2	0	KCNB2	73643080	1.000000	0.71417	0.215000	0.23724	0.920000	0.55202	7.776000	0.85560	0.911000	0.36747	0.655000	0.94253	CCT		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		12	103	1	0	0.00010058	0.001368	0.000107493	12	103				
HNF4G	3174	broad.mit.edu	37	8	76470886	76470886	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:76470886A>T	ENST00000354370.1	+	8	996	c.726A>T	c.(724-726)gcA>gcT	p.A242A	HNF4G_ENST00000396423.2_Silent_p.A279A			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	242					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTTAAAGGCAATTGTATTTT	0.318																																							uc003yaq.2		NA																	0				ovary(1)	1						c.(724-726)GCA>GCT		hepatocyte nuclear factor 4, gamma							185.0	190.0	189.0					8																	76470886		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76470886A>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.726A>T	8.37:g.76470886A>T						HNF4G_uc003yar.2_Silent_p.A279A	p.A242A	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		8	996	+	Breast(64;0.0448)		242					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.726A>T																																																																																					0.318	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		22	233	0	0	0	0.00278	0	22	233				
ZFHX4	79776	broad.mit.edu	37	8	77617020	77617020	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77617020C>G	ENST00000521891.2	+	2	1145	c.697C>G	c.(697-699)Cga>Gga	p.R233G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R233G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R233G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R233G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	233					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)			CTATGATCTCCGACACAAGAG	0.468										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(697-699)CGA>GGA		zinc finger homeodomain 4							115.0	107.0	110.0					8																	77617020		2044	4206	6250	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617020C>G		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.697C>G	8.37:g.77617020C>G	ENSP00000430497:p.Arg233Gly	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.R233G|ZFHX4_uc003yau.1_Missense_Mutation_p.R233G|ZFHX4_uc003yaw.1_Missense_Mutation_p.R233G	p.R233G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1084	+			233					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.697C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.84	1.760110	0.31137	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60672	0.17;0.21;0.18;0.17	5.42	5.42	0.78866	.	0.000000	0.35805	U	0.002966	T	0.76709	0.4025	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.998;0.998	T	0.77840	-0.2438	10	0.72032	D	0.01	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	233;233;233;233	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	233	ENSP00000430497:R233G;ENSP00000399605:R233G;ENSP00000050961:R233G;ENSP00000430848:R233G	ENSP00000050961:R233G	R	+	1	2	ZFHX4	77779575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.821000	0.97095	0.650000	0.86243	CGA		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	37	0	0	0	0.008291	0	10	37				
ZFHX4	79776	broad.mit.edu	37	8	77765790	77765790	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77765790G>C	ENST00000521891.2	+	10	7081	c.6633G>C	c.(6631-6633)caG>caC	p.Q2211H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2166H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2185H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2166H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2166					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)			TTGATCCACAGCCCACCTCTT	0.373										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6496-6498)CAG>CAC		zinc finger homeodomain 4							108.0	105.0	106.0					8																	77765790		1873	4107	5980	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765790G>C		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.6633G>C	8.37:g.77765790G>C	ENSP00000430497:p.Gln2211His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q2211H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2166H	p.Q2166H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6885	+			2166					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6498G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733021	0.30684	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.71	4.05	2.2	0.27929	.	0.000000	0.42294	U	0.000727	T	0.54447	0.1859	L	0.43152	1.355	0.47009	D	0.999289	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.81914	0.99;0.995;0.995	T	0.50056	-0.8872	10	0.49607	T	0.09	.	7.5837	0.27980	0.3653:0.0:0.6347:0.0	.	2166;2166;2211	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2211;2195;2166;2166;2185	ENSP00000430497:Q2211H;ENSP00000399605:Q2166H;ENSP00000050961:Q2166H;ENSP00000430848:Q2185H	ENSP00000050961:Q2166H	Q	+	3	2	ZFHX4	77928345	0.990000	0.36364	0.921000	0.36526	0.980000	0.70556	0.376000	0.20535	0.467000	0.27218	0.555000	0.69702	CAG		0.373	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	129	0	0	0	0.001882	0	23	129				
ZFHX4	79776	broad.mit.edu	37	8	77766839	77766839	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77766839C>A	ENST00000521891.2	+	10	8130	c.7682C>A	c.(7681-7683)cCt>cAt	p.P2561H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2516H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2535H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2516H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2516					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)			CAAATGCCCCCTCAGGCCAGT	0.488										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7546-7548)CCT>CAT		zinc finger homeodomain 4							75.0	74.0	74.0					8																	77766839		1938	4120	6058	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766839C>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.7682C>A	8.37:g.77766839C>A	ENSP00000430497:p.Pro2561His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2561H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2516H	p.P2516H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7934	+			2516					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7547C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367756	0.24771	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.73;0.73	5.38	5.38	0.77491	.	0.000000	0.44285	U	0.000479	T	0.65196	0.2668	L	0.56769	1.78	0.48087	D	0.999582	D;D;D	0.69078	0.99;0.994;0.997	P;D;D	0.63597	0.827;0.916;0.916	T	0.65286	-0.6205	10	0.59425	D	0.04	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2516;2516;2561	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2561;2545;2516;2516;2535	ENSP00000430497:P2561H;ENSP00000399605:P2516H;ENSP00000050961:P2516H;ENSP00000430848:P2535H	ENSP00000050961:P2516H	P	+	2	0	ZFHX4	77929394	0.977000	0.34250	0.241000	0.24154	0.003000	0.03518	5.931000	0.70113	2.791000	0.96007	0.650000	0.86243	CCT		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	91	1	0	7.93312e-07	0.00245	8.86685e-07	13	91				
ZFHX4	79776	broad.mit.edu	37	8	77768303	77768303	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77768303A>G	ENST00000521891.2	+	10	9594	c.9146A>G	c.(9145-9147)tAc>tGc	p.Y3049C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y3004C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y3023C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y3004C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3004					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)			GAGAAAGATTACTTGGCTCCG	0.517										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9010-9012)TAC>TGC		zinc finger homeodomain 4							95.0	95.0	95.0					8																	77768303		2003	4164	6167	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768303A>G		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.9146A>G	8.37:g.77768303A>G	ENSP00000430497:p.Tyr3049Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Y3049C|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y3004C	p.Y3004C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9398	+			3004					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9011A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622721	0.28889	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57273	0.48;0.53;0.51;0.41	5.33	5.33	0.75918	.	0.000000	0.40469	U	0.001084	T	0.66317	0.2777	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.66464	-0.5917	10	0.48119	T	0.1	.	15.4656	0.75397	1.0:0.0:0.0:0.0	.	3004;3004;3049	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	3049;3033;3004;3004;3023	ENSP00000430497:Y3049C;ENSP00000399605:Y3004C;ENSP00000050961:Y3004C;ENSP00000430848:Y3023C	ENSP00000050961:Y3004C	Y	+	2	0	ZFHX4	77930858	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	9.139000	0.94554	2.241000	0.73720	0.533000	0.62120	TAC		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	109	0	0	0	0.00245	0	14	109				
ZFHX4	79776	broad.mit.edu	37	8	77775752	77775752	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77775752C>A	ENST00000521891.2	+	11	10250	c.9802C>A	c.(9802-9804)Cct>Act	p.P3268T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3219T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3242T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3223T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3219					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)			ATACTTTATCCCTGGGTTTGC	0.493										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9667-9669)CCT>ACT		zinc finger homeodomain 4							150.0	141.0	144.0					8																	77775752		1898	4129	6027	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775752C>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.9802C>A	8.37:g.77775752C>A	ENSP00000430497:p.Pro3268Thr	HNSCC(33;0.089)					p.P3223T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10054	+			3219					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9667C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990244	0.35131	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.68181	-0.31;-0.23;-0.22;-0.26	4.69	4.69	0.59074	.	0.000000	0.42172	U	0.000743	T	0.79381	0.4436	M	0.76574	2.34	0.80722	D	1	D	0.59767	0.986	P	0.58660	0.843	T	0.82637	-0.0359	10	0.87932	D	0	.	18.171	0.89745	0.0:1.0:0.0:0.0	.	3223	Q86UP3-4	.	T	3268;3252;3223;3219;3242	ENSP00000430497:P3268T;ENSP00000399605:P3223T;ENSP00000050961:P3219T;ENSP00000430848:P3242T	ENSP00000050961:P3219T	P	+	1	0	ZFHX4	77938307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.594000	0.87642	0.655000	0.94253	CCT		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		22	165	1	0	4.26978e-12	0.00333	5.21256e-12	22	165				
REXO1L1P	254958	broad.mit.edu	37	8	86567320	86567320	+	IGR	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:86567320C>T	ENST00000379010.2	-	0	7032					NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						ATGTCGGCGTCCACCACGGTG	0.587																																							uc003ydl.1		NA																	0					NA						c.(499-501)GAC>AAC		exonuclease GOR																																				SO:0001628	intergenic_variant	0							g.chr8:86567320C>T																													8.37:g.86567320C>T							p.D167N	NM_172239	NP_758439					1	586	-									Missense_Mutation	SNP	ENST00000379010.2	37	c.499G>A																																																																																					0.587	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			7	126	0	0	0	0.001984	0	7	126				
PSKH2	85481	broad.mit.edu	37	8	87076615	87076615	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:87076615T>C	ENST00000276616.2	-	2	505	c.431A>G	c.(430-432)gAg>gGg	p.E144G	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATCAAAGAGCTCCCCTCCGGT	0.522																																							uc011lfy.1		NA																	0				stomach(2)|lung(2)|ovary(1)	5						c.(430-432)GAG>GGG		protein serine kinase H2							71.0	72.0	72.0					8																	87076615		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076615T>C	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.431A>G	8.37:g.87076615T>C	ENSP00000276616:p.Glu144Gly						p.E144G	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	431	-			144			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.431A>G	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390592	0.82902	.	.	ENSG00000147613	ENST00000276616	T	0.41400	1.0	5.69	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.65260	0.2674	M	0.86097	2.795	0.38205	D	0.940297	D	0.89917	1.0	D	0.81914	0.995	T	0.71699	-0.4514	9	0.87932	D	0	.	9.9087	0.41392	0.0:0.0807:0.0:0.9192	.	144	Q96QS6	KPSH2_HUMAN	G	144	ENSP00000276616:E144G	ENSP00000276616:E144G	E	-	2	0	PSKH2	87145731	1.000000	0.71417	0.916000	0.36221	0.992000	0.81027	4.832000	0.62759	0.967000	0.38186	0.533000	0.62120	GAG		0.522	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		11	50	0	0	0	0.001368	0	11	50				
NBN	4683	broad.mit.edu	37	8	90965679	90965679	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:90965679T>A	ENST00000265433.3	-	11	1792	c.1638A>T	c.(1636-1638)agA>agT	p.R546S	NBN_ENST00000409330.1_Missense_Mutation_p.R464S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	546					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTTATTTGATCTTAGCTTTT	0.333								Homologous recombination																															uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1636-1638)AGA>AGT	Direct_reversal_of_damage|Homologous_recombination	nibrin							213.0	206.0	208.0					8																	90965679		2203	4299	6502	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965679T>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1638A>T	8.37:g.90965679T>A	ENSP00000265433:p.Arg546Ser					NBN_uc003yei.1_Missense_Mutation_p.R464S|NBN_uc011lgb.1_Missense_Mutation_p.R546S	p.R546S	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1748	-			546					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1638A>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	5.200	0.222362	0.09863	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58940	2.02;0.3	4.96	2.4	0.29515	.	1.240440	0.05205	N	0.505590	T	0.41096	0.1144	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.21999	-1.0229	10	0.11182	T	0.66	-3.8121	6.5398	0.22375	0.0:0.2232:0.0:0.7768	.	546;546	A6H8Y5;O60934	.;NBN_HUMAN	S	546;464	ENSP00000265433:R546S;ENSP00000386924:R464S	ENSP00000265433:R546S	R	-	3	2	NBN	91034855	0.001000	0.12720	0.001000	0.08648	0.572000	0.35998	0.407000	0.21049	0.270000	0.21984	0.528000	0.53228	AGA		0.333	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		49	42	0	0	0	0.00361	0	49	42				
NBN	4683	broad.mit.edu	37	8	90976659	90976659	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:90976659G>A	ENST00000265433.3	-	8	1127	c.973C>T	c.(973-975)Cct>Tct	p.P325S	NBN_ENST00000409330.1_Missense_Mutation_p.P243S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	325	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGCCCTGAGGATCACAGTAA	0.333								Homologous recombination																															uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(973-975)CCT>TCT	Direct_reversal_of_damage|Homologous_recombination	nibrin							112.0	111.0	111.0					8																	90976659		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90976659G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.973C>T	8.37:g.90976659G>A	ENSP00000265433:p.Pro325Ser					NBN_uc003yei.1_Missense_Mutation_p.P243S|NBN_uc011lgb.1_Missense_Mutation_p.P325S	p.P325S	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		8	1083	-			325					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.973C>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855107	0.71719	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.74209	-0.7;-0.82	5.55	4.68	0.58851	.	0.048657	0.85682	D	0.000000	D	0.83982	0.5372	M	0.71036	2.16	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	D	0.85571	0.1234	10	0.87932	D	0	-18.4762	11.935	0.52868	0.0821:0.0:0.9179:0.0	.	325	O60934	NBN_HUMAN	S	325;243;325	ENSP00000265433:P325S;ENSP00000386924:P243S	ENSP00000265433:P325S	P	-	1	0	NBN	91045835	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.758000	0.68776	1.484000	0.48361	0.643000	0.83706	CCT		0.333	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		22	56	0	0	0	0.00278	0	22	56				
TMEM67	91147	broad.mit.edu	37	8	94793932	94793932	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:94793932A>T	ENST00000453321.3	+	10	1083	c.1025A>T	c.(1024-1026)aAt>aTt	p.N342I	TMEM67_ENST00000409623.3_Missense_Mutation_p.N261I|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	342					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATAAGAGGAAATTTTCTCAAG	0.323																																							uc011lgk.1		NA																	0				ovary(2)	2						c.(1024-1026)AAT>ATT		meckelin isoform 1							70.0	70.0	70.0					8																	94793932		2203	4297	6500	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94793932A>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1025A>T	8.37:g.94793932A>T	ENSP00000389998:p.Asn342Ile					TMEM67_uc010mat.1_Missense_Mutation_p.N257I|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.N261I	p.N342I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		10	1096	+	Breast(36;4.14e-07)		342					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1025A>T	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227003	0.79576	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97328	-4.34;-4.34;-4.34	5.73	4.57	0.56435	.	0.251086	0.45606	D	0.000353	D	0.96442	0.8839	L	0.60455	1.87	0.45621	D	0.998558	P;P	0.52170	0.813;0.951	P;P	0.51055	0.657;0.632	D	0.95511	0.8586	10	0.72032	D	0.01	-6.8054	10.2806	0.43537	0.9253:0.0:0.0747:0.0	.	342;261	Q5HYA8;G5E9H2	MKS3_HUMAN;.	I	239;342;261	ENSP00000388671:N239I;ENSP00000389998:N342I;ENSP00000386966:N261I	ENSP00000314488:N332I	N	+	2	0	TMEM67	94863108	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.534000	0.73833	0.993000	0.38866	0.528000	0.53228	AAT		0.323	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		9	31	0	0	0	0.006214	0	9	31				
VPS13B	157680	broad.mit.edu	37	8	100712139	100712139	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100712139A>G	ENST00000358544.2	+	36	6619	c.6508A>G	c.(6508-6510)Aag>Gag	p.K2170E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K2145E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2170					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTAGTGTCAAGGCAACACA	0.423																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6508-6510)AAG>GAG		vacuolar protein sorting 13B isoform 5							49.0	42.0	45.0					8																	100712139		2203	4298	6501	SO:0001583	missense	157680				protein transport			g.chr8:100712139A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6508A>G	8.37:g.100712139A>G	ENSP00000351346:p.Lys2170Glu					VPS13B_uc003yiw.2_Missense_Mutation_p.K2145E	p.K2170E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		36	6619	+	Breast(36;3.73e-07)		2170					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6508A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514806	0.64634	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.41;-0.4	5.85	5.85	0.93711	.	0.108992	0.64402	D	0.000015	T	0.61937	0.2387	L	0.52573	1.65	0.80722	D	1	P;P	0.45531	0.86;0.78	B;B	0.41271	0.352;0.192	T	0.67341	-0.5695	10	0.72032	D	0.01	.	12.1356	0.53968	0.8572:0.1428:0.0:0.0	.	2145;2170	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	2145;2170	ENSP00000349685:K2145E;ENSP00000351346:K2170E	ENSP00000349685:K2145E	K	+	1	0	VPS13B	100781315	1.000000	0.71417	0.812000	0.32479	0.521000	0.34408	4.137000	0.58010	2.229000	0.72834	0.533000	0.62120	AAG		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	40	0	0	0	0.000978	0	11	40				
VPS13B	157680	broad.mit.edu	37	8	100844718	100844718	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100844718A>G	ENST00000358544.2	+	52	9638	c.9527A>G	c.(9526-9528)gAt>gGt	p.D3176G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3151G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3176					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGTACTGGATGCATCCCTG	0.532																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9526-9528)GAT>GGT		vacuolar protein sorting 13B isoform 5							87.0	63.0	71.0					8																	100844718		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100844718A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9527A>G	8.37:g.100844718A>G	ENSP00000351346:p.Asp3176Gly					VPS13B_uc003yiw.2_Missense_Mutation_p.D3151G	p.D3176G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9638	+	Breast(36;3.73e-07)		3176					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9527A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436434	0.25813	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.55;-0.55	5.55	4.39	0.52855	.	0.413326	0.25631	N	0.029360	T	0.57858	0.2082	L	0.36672	1.1	0.45005	D	0.998027	B;B	0.12630	0.006;0.001	B;B	0.13407	0.009;0.001	T	0.50276	-0.8847	10	0.28530	T	0.3	.	9.2011	0.37258	0.8418:0.0:0.1582:0.0	.	3151;3176	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	3151;3176	ENSP00000349685:D3151G;ENSP00000351346:D3176G	ENSP00000349685:D3151G	D	+	2	0	VPS13B	100913894	0.969000	0.33509	0.027000	0.17364	0.601000	0.36947	2.379000	0.44318	0.933000	0.37291	0.528000	0.53228	GAT		0.532	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	17	0	0	0	0.001168	0	6	17				
VPS13B	157680	broad.mit.edu	37	8	100844812	100844812	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100844812A>G	ENST00000358544.2	+	52	9732	c.9621A>G	c.(9619-9621)agA>agG	p.R3207R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3182R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3207					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTATAGTTAGACCAGAGTTTC	0.483																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9619-9621)AGA>AGG		vacuolar protein sorting 13B isoform 5							67.0	65.0	65.0					8																	100844812		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100844812A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9621A>G	8.37:g.100844812A>G						VPS13B_uc003yiw.2_Silent_p.R3182R	p.R3207R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9732	+	Breast(36;3.73e-07)		3207					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.9621A>G	CCDS6280.1																																																																																				0.483	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	58	0	0	0	0.000978	0	10	58				
UBR5	51366	broad.mit.edu	37	8	103273473	103273473	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:103273473A>G	ENST00000520539.1	-	56	8463	c.7857T>C	c.(7855-7857)ccT>ccC	p.P2619P	UBR5_ENST00000521922.1_Silent_p.P2612P|UBR5_ENST00000518205.1_Silent_p.P347P|UBR5_ENST00000220959.4_Silent_p.P2618P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2619	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTACACCATTAGGAATGAGTT	0.348																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(7855-7857)CCT>CCC		ubiquitin protein ligase E3 component n-recognin							152.0	130.0	138.0					8																	103273473		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103273473A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7857T>C	8.37:g.103273473A>G						UBR5_uc003yks.1_Silent_p.P2618P|UBR5_uc003ykq.2_Silent_p.P130P	p.P2619P	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		56	7890	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2619			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.7857T>C	CCDS34933.1																																																																																				0.348	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		17	101	0	0	0	0.006122	0	17	101				
ZFPM2	23414	broad.mit.edu	37	8	106456593	106456593	+	Missense_Mutation	SNP	C	C	A	rs371910925		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:106456593C>A	ENST00000407775.2	+	3	535	c.285C>A	c.(283-285)gaC>gaA	p.D95E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	95					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTGAGACAGACGACTGGGATG	0.433																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(283-285)GAC>GAA		zinc finger protein, multitype 2							71.0	75.0	73.0					8																	106456593		1902	4128	6030	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456593C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.285C>A	8.37:g.106456593C>A	ENSP00000384179:p.Asp95Glu						p.D95E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	308	+			95					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.285C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	c	2.654	-0.281304	0.05642	.	.	ENSG00000169946	ENST00000407775	T	0.17054	2.3	5.87	-7.62	0.01294	.	0.806032	0.10838	N	0.628620	T	0.02610	0.0079	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43637	-0.9379	10	0.02654	T	1	.	0.2591	0.00216	0.3597:0.2104:0.1653:0.2646	.	95	Q8WW38	FOG2_HUMAN	E	95	ENSP00000384179:D95E	ENSP00000384179:D95E	D	+	3	2	ZFPM2	106525769	0.002000	0.14202	0.571000	0.28486	0.835000	0.47333	-1.501000	0.02281	-1.569000	0.01668	-1.137000	0.01932	GAC		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	10	1	0	0.00198382	0.001984	0.00207558	7	10				
ZFPM2	23414	broad.mit.edu	37	8	106813864	106813864	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:106813864T>A	ENST00000407775.2	+	8	1804	c.1554T>A	c.(1552-1554)gcT>gcA	p.A518A	ZFPM2_ENST00000378472.4_Silent_p.A249A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.A386A|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.A386A	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	518					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGATCTTAGCTAAGATGTCTG	0.502																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1552-1554)GCT>GCA		zinc finger protein, multitype 2							106.0	108.0	108.0					8																	106813864		1936	4127	6063	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813864T>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1554T>A	8.37:g.106813864T>A						ZFPM2_uc011lhs.1_Silent_p.A249A	p.A518A	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1577	+			518					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1554T>A	CCDS47908.1																																																																																				0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			33	125	0	0	0	0.009535	0	33	125				
EIF3E	3646	broad.mit.edu	37	8	109241348	109241348	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:109241348T>C	ENST00000220849.5	-	6	610	c.548A>G	c.(547-549)gAt>gGt	p.D183G	RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Missense_Mutation_p.D90G|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CATGGCTGCATCCCAATTCTG	0.368																																					GBM(15;360 410 8460 34179 52246)	GBM(15;360 410 8460 34179 52246)	uc003ymu.2		NA																	0				ovary(2)|kidney(1)	3						c.(547-549)GAT>GGT		eukaryotic translation initiation factor 3,							120.0	116.0	117.0					8																	109241348		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241348T>C	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.548A>G	8.37:g.109241348T>C	ENSP00000220849:p.Asp183Gly					EIF3E_uc003ymt.2_Missense_Mutation_p.D134G|EIF3E_uc003ymv.2_Missense_Mutation_p.D90G|EIF3E_uc010mci.1_Missense_Mutation_p.D183G	p.D183G	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	576	-			183			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.548A>G	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530840	0.64860	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.50277	0.75;0.75;0.75	5.33	5.33	0.75918	.	0.045272	0.85682	D	0.000000	T	0.49864	0.1582	M	0.70842	2.15	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49551	-0.8928	10	0.52906	T	0.07	-18.0342	15.5821	0.76452	0.0:0.0:0.0:1.0	.	183;183	B2R806;P60228	.;EIF3E_HUMAN	G	183;90;56	ENSP00000220849:D183G;ENSP00000428796:D90G;ENSP00000430839:D56G	ENSP00000220849:D183G	D	-	2	0	EIF3E	109310524	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.920000	0.87521	2.139000	0.66308	0.477000	0.44152	GAT		0.368	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		13	83	0	0	0	0.00245	0	13	83				
KCNV1	27012	broad.mit.edu	37	8	110980804	110980804	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:110980804A>G	ENST00000524391.1	-	4	2048	c.1016T>C	c.(1015-1017)aTc>aCc	p.I339T	KCNV1_ENST00000297404.1_Missense_Mutation_p.I339T			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	339					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACACTGGGTGATTGTCATCCC	0.483																																							uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(1015-1017)ATC>ACC		potassium channel, subfamily V, member 1							72.0	59.0	63.0					8																	110980804		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980804A>G	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1016T>C	8.37:g.110980804A>G	ENSP00000435954:p.Ile339Thr					KCNV1_uc010mcw.2_Missense_Mutation_p.I339T	p.I339T	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1358	-	all_neural(195;0.219)		339			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1016T>C	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531191	0.64972	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98381	-4.9;-4.9	5.62	5.62	0.85841	Ion transport (1);	0.052761	0.64402	D	0.000001	D	0.97813	0.9282	M	0.81179	2.53	0.58432	D	0.999994	B	0.26708	0.157	B	0.33521	0.165	D	0.97395	0.9992	10	0.87932	D	0	.	14.9895	0.71374	1.0:0.0:0.0:0.0	.	339	Q6PIU1	KCNV1_HUMAN	T	339;339;215	ENSP00000435954:I339T;ENSP00000297404:I339T	ENSP00000297404:I339T	I	-	2	0	KCNV1	111049980	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.335000	0.96500	2.123000	0.65237	0.533000	0.62120	ATC		0.483	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		5	72	0	0	0	0.001168	0	5	72				
CSMD3	114788	broad.mit.edu	37	8	113299373	113299373	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113299373G>T	ENST00000297405.5	-	58	9495	c.9251C>A	c.(9250-9252)aCt>aAt	p.T3084N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2915N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3044N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3014N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3084	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGTAACCAGTATCACAAGC	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9250-9252)ACT>AAT		CUB and Sushi multiple domains 3 isoform 1							190.0	161.0	171.0					8																	113299373		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299373G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9251C>A	8.37:g.113299373G>T	ENSP00000297405:p.Thr3084Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2286N|CSMD3_uc003ynt.2_Missense_Mutation_p.T3044N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2915N	p.T3084N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9410	-			3084			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9251C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286349	0.40494	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.36	-2.38	0.06622	Complement control module (2);Sushi/SCR/CCP (3);	0.786648	0.11744	N	0.533700	T	0.55832	0.1945	L	0.46614	1.455	0.23473	N	0.997602	B;B;B	0.29432	0.068;0.154;0.244	B;B;B	0.35859	0.093;0.197;0.212	T	0.49925	-0.8887	10	0.35671	T	0.21	.	13.3982	0.60868	0.6708:0.0:0.3292:0.0	.	2915;3084;3044	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	3044;3084;2354;2915;3014	ENSP00000345799:T3044N;ENSP00000297405:T3084N;ENSP00000341558:T2354N;ENSP00000412263:T2915N;ENSP00000343124:T3014N	ENSP00000297405:T3084N	T	-	2	0	CSMD3	113368549	0.000000	0.05858	0.826000	0.32828	0.982000	0.71751	-0.576000	0.05854	-0.783000	0.04534	0.650000	0.86243	ACT		0.458	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		53	34	1	0	5.39261e-20	0.00361	6.93734e-20	53	34				
CSMD3	114788	broad.mit.edu	37	8	113301759	113301759	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113301759A>T	ENST00000297405.5	-	57	9227	c.8983T>A	c.(8983-8985)Tgt>Agt	p.C2995S	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2826S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2955S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2925S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2995	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTGTCCACAGTCAATCACT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8983-8985)TGT>AGT		CUB and Sushi multiple domains 3 isoform 1							44.0	38.0	40.0					8																	113301759		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301759A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8983T>A	8.37:g.113301759A>T	ENSP00000297405:p.Cys2995Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C2197S|CSMD3_uc003ynt.2_Missense_Mutation_p.C2955S|CSMD3_uc011lhx.1_Missense_Mutation_p.C2826S	p.C2995S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9142	-			2995			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8983T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798861	0.90538	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73	6.01	6.01	0.97437	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.99705	4.715	0.58432	D	0.999999	P;D;P	0.89917	0.857;1.0;0.917	P;D;P	0.91635	0.618;0.999;0.62	D	0.95994	0.8988	10	0.87932	D	0	.	16.5205	0.84312	1.0:0.0:0.0:0.0	.	2826;2995;2955	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2955;2995;2265;2826;2925	ENSP00000345799:C2955S;ENSP00000297405:C2995S;ENSP00000341558:C2265S;ENSP00000412263:C2826S;ENSP00000343124:C2925S	ENSP00000297405:C2995S	C	-	1	0	CSMD3	113370935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.299000	0.77371	0.533000	0.62120	TGT		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	24	0	0	0	0.001168	0	6	24				
CSMD3	114788	broad.mit.edu	37	8	113304920	113304920	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113304920A>T	ENST00000297405.5	-	55	8878	c.8634T>A	c.(8632-8634)ccT>ccA	p.P2878P	CSMD3_ENST00000455883.2_Silent_p.P2709P|CSMD3_ENST00000343508.3_Silent_p.P2838P|CSMD3_ENST00000352409.3_Silent_p.P2808P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2878	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2878P(1)|p.P2838P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGACTACCAGGGTGACCAC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8632-8634)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							98.0	85.0	89.0					8																	113304920		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113304920A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8634T>A	8.37:g.113304920A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2080P|CSMD3_uc003ynt.2_Silent_p.P2838P|CSMD3_uc011lhx.1_Silent_p.P2709P	p.P2878P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			55	8793	-			2878			Extracellular (Potential).|Sushi 19.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8634T>A	CCDS6315.1																																																																																				0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	48	0	0	0	0.006214	0	10	48				
CSMD3	114788	broad.mit.edu	37	8	113418912	113418912	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113418912G>C	ENST00000297405.5	-	35	5894	c.5650C>G	c.(5650-5652)Cca>Gca	p.P1884A	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1780A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1844A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1814A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1884	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGAATCTTGGTTCAGGCACA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5650-5652)CCA>GCA		CUB and Sushi multiple domains 3 isoform 1							102.0	97.0	99.0					8																	113418912		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418912G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5650C>G	8.37:g.113418912G>C	ENSP00000297405:p.Pro1884Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1086A|CSMD3_uc003ynt.2_Missense_Mutation_p.P1844A|CSMD3_uc011lhx.1_Missense_Mutation_p.P1780A	p.P1884A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5809	-			1884			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5650C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573154	0.86542	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.84275	0.5436	M	0.93898	3.47	0.54753	D	0.999988	P;B;D	0.89917	0.516;0.389;1.0	B;B;D	0.91635	0.373;0.156;0.999	D	0.87174	0.2223	10	0.46703	T	0.11	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	1780;1884;1844	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1844;1884;1154;1780;1814	ENSP00000345799:P1844A;ENSP00000297405:P1884A;ENSP00000341558:P1154A;ENSP00000412263:P1780A;ENSP00000343124:P1814A	ENSP00000297405:P1884A	P	-	1	0	CSMD3	113488088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.574000	0.86865	0.655000	0.94253	CCA		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		51	31	0	0	0	0.00361	0	51	31				
CSMD3	114788	broad.mit.edu	37	8	113657345	113657345	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113657345A>T	ENST00000297405.5	-	20	3547	c.3303T>A	c.(3301-3303)caT>caA	p.H1101Q	MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Missense_Mutation_p.H997Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1061Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1101Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1101	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTTTCCATGGGTTACAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3301-3303)CAT>CAA		CUB and Sushi multiple domains 3 isoform 1							89.0	88.0	89.0					8																	113657345		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113657345A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3303T>A	8.37:g.113657345A>T	ENSP00000297405:p.His1101Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H373Q|CSMD3_uc003ynt.2_Missense_Mutation_p.H1061Q|CSMD3_uc011lhx.1_Missense_Mutation_p.H997Q	p.H1101Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3462	-			1101			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3303T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709652	0.48517	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.78	3.43	0.39272	CUB (5);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.33245	0.995	0.30179	N	0.800576	B;B;D	0.55385	0.065;0.08;0.971	B;B;P	0.58721	0.06;0.1;0.844	T	0.04522	-1.0945	10	0.30854	T	0.27	.	10.1927	0.43037	0.866:0.0:0.134:0.0	.	997;1101;1061	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	1061;1101;441;997;1101	ENSP00000345799:H1061Q;ENSP00000297405:H1101Q;ENSP00000341558:H441Q;ENSP00000412263:H997Q;ENSP00000343124:H1101Q	ENSP00000297405:H1101Q	H	-	3	2	CSMD3	113726521	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.849000	0.48286	0.556000	0.29098	0.482000	0.46254	CAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	43	0	0	0	0.006214	0	9	43				
CSMD3	114788	broad.mit.edu	37	8	113678554	113678554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113678554C>T	ENST00000297405.5	-	17	3012	c.2768G>A	c.(2767-2769)tGg>tAg	p.W923*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W819*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W883*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W923*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	923	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAATCACCCACTCACAATT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2767-2769)TGG>TAG		CUB and Sushi multiple domains 3 isoform 1							65.0	63.0	64.0					8																	113678554		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113678554C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2768G>A	8.37:g.113678554C>T	ENSP00000297405:p.Trp923*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.W195*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W883*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W819*	p.W923*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			17	2927	-			923			Extracellular (Potential).|CUB 5.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2768G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	44	11.010842	0.99503	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4301	0.99081	0.0:1.0:0.0:0.0	.	.	.	.	X	883;923;263;819;923	.	ENSP00000297405:W923X	W	-	2	0	CSMD3	113747730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.834000	0.97654	0.557000	0.71058	TGG		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	29	0	0	0	0.000602	0	5	29				
TRPS1	7227	broad.mit.edu	37	8	116631829	116631829	+	Missense_Mutation	SNP	C	C	A	rs552374047		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:116631829C>A	ENST00000220888.5	-	2	616	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	TRPS1_ENST00000395715.3_Missense_Mutation_p.D166Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D107Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.D157Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.D153Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	153					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTTCTGATCTTCCTTTGTC	0.522									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(457-459)GAT>TAT		zinc finger transcription factor TRPS1							95.0	94.0	94.0					8																	116631829		1961	4159	6120	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631829C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.457G>T	8.37:g.116631829C>A	ENSP00000220888:p.Asp153Tyr					TRPS1_uc011lhy.1_Missense_Mutation_p.D157Y|TRPS1_uc003yny.2_Missense_Mutation_p.D166Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D153Y	p.D153Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	916	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		153					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.457G>T		.	.	.	.	.	.	.	.	.	.	C	18.68	3.675579	0.67928	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98747	-5.11;-5.08;-5.08;-5.08;0.72	5.73	5.73	0.89815	.	0.331493	0.28317	N	0.015794	D	0.96259	0.8780	N	0.08118	0	0.51233	D	0.999917	P;B;P	0.41848	0.471;0.34;0.763	B;B;B	0.43478	0.421;0.241;0.421	D	0.96952	0.9695	10	0.87932	D	0	-13.7868	19.8893	0.96923	0.0:1.0:0.0:0.0	.	157;153;166	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	166;153;107;157;153	ENSP00000379065:D166Y;ENSP00000220888:D153Y;ENSP00000428910:D107Y;ENSP00000428680:D157Y;ENSP00000429174:D153Y	ENSP00000220888:D153Y	D	-	1	0	TRPS1	116701004	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.301000	0.51842	2.704000	0.92352	0.585000	0.79938	GAT		0.522	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		15	91	1	0	0.00316338	0.003163	0.00328484	15	91				
ZHX1	11244	broad.mit.edu	37	8	124266208	124266208	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:124266208C>A	ENST00000522655.1	-	3	2519	c.1979G>T	c.(1978-1980)aGt>aTt	p.S660I	ZHX1_ENST00000395571.3_Missense_Mutation_p.S660I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.S660I			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	660					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGCCTGTACTCCCTGACTT	0.438																																							uc003yqe.2		NA																	0				ovary(1)	1						c.(1978-1980)AGT>ATT		zinc fingers and homeoboxes 1							109.0	108.0	109.0					8																	124266208		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266208C>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1979G>T	8.37:g.124266208C>A	ENSP00000428821:p.Ser660Ile					C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.S660I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.S660I	p.S660I	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2409	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		660			Homeobox 4.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1979G>T	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.068|8.068	0.769624|0.769624	0.15983|0.15983	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.24538|.	1.85;1.85;1.85|.	5.5|5.5	2.65|2.65	0.31530|0.31530	Homeobox (1);Homeodomain-like (1);|.	0.907911|.	0.09790|.	N|.	0.755574|.	T|T	0.35278|0.35278	0.0926|0.0926	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.20550|.	0.046|.	B|.	0.21151|.	0.033|.	T|T	0.21042|0.21042	-1.0257|-1.0257	9|4	0.45353|.	T|.	0.12|.	-6.3561|-6.3561	8.2768|8.2768	0.31877|0.31877	0.0:0.6488:0.1974:0.1538|0.0:0.6488:0.1974:0.1538	.|.	660|.	Q9UKY1|.	ZHX1_HUMAN|.	I|L	660|345	ENSP00000297857:S660I;ENSP00000378938:S660I;ENSP00000428821:S660I|.	ENSP00000297857:S660I|.	S|V	-|-	2|1	0|0	ZHX1|ZHX1	124335389|124335389	0.002000|0.002000	0.14202|0.14202	0.389000|0.389000	0.26208|0.26208	0.944000|0.944000	0.59088|0.59088	-0.090000|-0.090000	0.11163|0.11163	0.898000|0.898000	0.36418|0.36418	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.438	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			20	132	1	0	3.51602e-12	0.008871	4.30081e-12	20	132				
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:124382167A>T	ENST00000287394.5	-	7	932	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.378													A|||	11	0.00219649	0.0008	0.0043	5008	,	,		17887	0.002		0.002	False		,,,				2504	0.0031						uc003yqh.3		NA																	0				ovary(2)	2						c.(823-825)GAT>GAA		ATPase family, AAA domain containing 2		A	GLU/ASP	10,4396	11.4+/-27.6	0,10,2193	257.0	196.0	216.0		825	-2.7	0.1	8	dbSNP_134	216	4,8596	3.7+/-12.6	0,4,4296	no	missense	ATAD2	NM_014109.3	45	0,14,6489	TT,TA,AA		0.0465,0.227,0.1076	benign	275/1391	124382167	14,12992	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382167A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.825T>A	8.37:g.124382167A>T	ENSP00000287394:p.Asp275Glu					ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	933	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		275			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.825T>A	CCDS6343.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	0	0.0	A	0	-2.611228	0.00120	0.00227	4.65E-4	ENSG00000156802	ENST00000287394	T	0.25912	1.77	1.38	-2.69	0.06022	.	1.170220	0.05820	N	0.615542	T	0.08492	0.0211	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.50398	-0.8833	10	0.02654	T	1	.	1.3801	0.02228	0.3901:0.0:0.2745:0.3354	.	105;275	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	275	ENSP00000287394:D275E	ENSP00000287394:D275E	D	-	3	2	ATAD2	124451348	0.985000	0.35326	0.093000	0.20910	0.064000	0.16182	-0.967000	0.03821	-0.205000	0.10219	0.402000	0.26972	GAT		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		8	25	0	0	0	0.00308	0	8	25				
KCNQ3	3786	broad.mit.edu	37	8	133192474	133192474	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:133192474C>T	ENST00000388996.4	-	4	1127	c.707G>A	c.(706-708)cGc>cAc	p.R236H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R236H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R116H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	236					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R236H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGCAGCATGCGCAGGATCTG	0.582																																							uc003ytj.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(706-708)CGC>CAC		potassium voltage-gated channel KQT-like protein							99.0	89.0	93.0					8																	133192474		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133192474C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.707G>A	8.37:g.133192474C>T	ENSP00000373648:p.Arg236His					KCNQ3_uc010mdt.2_Missense_Mutation_p.R236H	p.R236H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	932	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		236			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.707G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216193	0.95104	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99591	-6.24;-6.24;-6.24	5.52	5.52	0.82312	Ion transport (1);	0.052040	0.85682	D	0.000000	D	0.99739	0.9897	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97453	1.0029	10	0.87932	D	0	-14.368	18.4101	0.90549	0.0:1.0:0.0:0.0	.	236;236	E7ET42;O43525	.;KCNQ3_HUMAN	H	236;116;236;225;115	ENSP00000373648:R236H;ENSP00000429799:R116H;ENSP00000428790:R236H	ENSP00000373648:R236H	R	-	2	0	KCNQ3	133261656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.610000	0.88304	0.561000	0.74099	CGC		0.582	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		19	106	0	0	0	0.007413	0	19	106				
COL22A1	169044	broad.mit.edu	37	8	139620214	139620214	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:139620214C>T	ENST00000303045.6	-	57	4443	c.3997G>A	c.(3997-3999)Gga>Aga	p.G1333R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1313R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1333	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGAGATCCCGGTGATCCA	0.532										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3997-3999)GGA>AGA		collagen, type XXII, alpha 1							97.0	96.0	96.0					8																	139620214		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620214C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3997G>A	8.37:g.139620214C>T	ENSP00000303153:p.Gly1333Arg	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G613R	p.G1333R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4444	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1333			Pro-rich.|Gly-rich.|Collagen-like 13.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3997G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498124	0.64186	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.29	5.05	5.05	0.67936	.	0.137328	0.32503	N	0.006018	D	0.99799	0.9914	H	0.97564	4.03	0.80722	D	1	B;D	0.89917	0.192;1.0	B;D	0.97110	0.075;1.0	D	0.96912	0.9668	10	0.87932	D	0	.	17.5742	0.87943	0.0:1.0:0.0:0.0	.	1313;1333	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1333;1313;1026	ENSP00000303153:G1333R;ENSP00000387655:G1313R	ENSP00000303153:G1333R	G	-	1	0	COL22A1	139689396	1.000000	0.71417	0.606000	0.28943	0.679000	0.39708	6.312000	0.72840	2.620000	0.88729	0.563000	0.77884	GGA		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	44	0	0	0	0.006214	0	9	44				
DMRT1	1761	broad.mit.edu	37	9	968124	968124	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:968124C>A	ENST00000382276.3	+	5	1256	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	DMRT1_ENST00000569227.1_Silent_p.I211I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	369					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CTCCCGTCATCGAGGAGGACG	0.522																																							uc003zgv.2		NA																	0				ovary(1)	1						c.(1105-1107)ATC>ATA		doublesex and mab-3 related transcription factor							47.0	39.0	41.0					9																	968124		2203	4300	6503	SO:0001819	synonymous_variant	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:968124C>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1107C>A	9.37:g.968124C>A							p.I369I	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	5	1256	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	369					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP	ENST00000382276.3	37	c.1107C>A	CCDS6442.1																																																																																				0.522	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		10	35	1	0	7.48243e-07	0.006214	8.39327e-07	10	35				
DMRT3	58524	broad.mit.edu	37	9	990347	990347	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:990347T>A	ENST00000190165.2	+	2	799	c.761T>A	c.(760-762)gTg>gAg	p.V254E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	254					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V254E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCGCTTGAAGTGTTAAAAAAG	0.572																																							uc003zgw.1		NA																	1	Substitution - Missense(1)	p.V254E(1)	ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(760-762)GTG>GAG		doublesex and mab-3 related transcription factor							63.0	69.0	67.0					9																	990347		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990347T>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.761T>A	9.37:g.990347T>A	ENSP00000190165:p.Val254Glu						p.V254E	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	799	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	254					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.761T>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384715	0.42308	.	.	ENSG00000064218	ENST00000190165	T	0.56444	0.46	4.62	4.62	0.57501	DMRTA motif (1);UBA-like (1);	0.064498	0.64402	D	0.000009	T	0.65770	0.2723	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69363	-0.5165	10	0.87932	D	0	-28.1735	14.0403	0.64672	0.0:0.0:0.0:1.0	.	254	Q9NQL9	DMRT3_HUMAN	E	254	ENSP00000190165:V254E	ENSP00000190165:V254E	V	+	2	0	DMRT3	980347	1.000000	0.71417	0.668000	0.29813	0.128000	0.20619	7.287000	0.78681	1.728000	0.51552	0.374000	0.22700	GTG		0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		53	41	0	0	0	0.00361	0	53	41				
RCL1	10171	broad.mit.edu	37	9	4849480	4849480	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:4849480G>A	ENST00000381750.4	+	8	1124	c.901G>A	c.(901-903)Gcg>Acg	p.A301T	RP11-125K10.5_ENST00000443970.1_RNA|RCL1_ENST00000381730.1_Missense_Mutation_p.A115T|RCL1_ENST00000381728.1_Missense_Mutation_p.A115T|MIR101-2_ENST00000362195.2_RNA|RCL1_ENST00000448872.2_Missense_Mutation_p.A115T	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	301					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)		CCAAAGCCTGGCGCTACTACT	0.438																																							uc003zis.2		NA																	0					0						c.(901-903)GCG>ACG		RNA terminal phosphate cyclase-like 1							143.0	119.0	127.0					9																	4849480		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4849480G>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.901G>A	9.37:g.4849480G>A	ENSP00000371169:p.Ala301Thr					RCL1_uc003zit.2_Missense_Mutation_p.A143T|RCL1_uc010mhk.1_Missense_Mutation_p.A143T|RCL1_uc010mhl.1_Missense_Mutation_p.A115T	p.A301T	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	8	1159	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	301					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.901G>A	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325094	0.60634	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (4);-terminal phosphate cyclase (1);	0.219435	0.47093	D	0.000250	T	0.70710	0.3255	M	0.65975	2.015	0.58432	D	0.999999	B;B	0.19445	0.036;0.007	B;B	0.34093	0.175;0.084	T	0.65216	-0.6222	9	0.33940	T	0.23	-12.0243	18.2327	0.89939	0.0:0.0:1.0:0.0	.	115;301	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	T	301;143;115;115;115;115	.	ENSP00000371147:A115T	A	+	1	0	RCL1	4839480	1.000000	0.71417	0.973000	0.42090	0.432000	0.31715	9.496000	0.97967	2.737000	0.93849	0.563000	0.77884	GCG		0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		6	33	0	0	0	0.001984	0	6	33				
PTPRD	5789	broad.mit.edu	37	9	8517921	8517921	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:8517921G>A	ENST00000381196.4	-	18	2013	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	PTPRD_ENST00000397611.3_Silent_p.V487V|PTPRD_ENST00000397617.3_Silent_p.V480V|PTPRD_ENST00000540109.1_Silent_p.V490V|PTPRD_ENST00000356435.5_Silent_p.V490V|PTPRD_ENST00000358503.5_Silent_p.V477V|PTPRD_ENST00000360074.4_Silent_p.V477V|PTPRD_ENST00000355233.5_Silent_p.V490V|PTPRD_ENST00000397606.3_Silent_p.V480V|PTPRD_ENST00000537002.1_Silent_p.V487V|PTPRD_ENST00000486161.1_Silent_p.V490V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	490	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGGACTTTGACAGAATATG	0.438										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1468-1470)GTC>GTT		protein tyrosine phosphatase, receptor type, D							192.0	168.0	176.0					9																	8517921		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8517921G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1470C>T	9.37:g.8517921G>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.V490V|PTPRD_uc003zkq.2_Silent_p.V490V|PTPRD_uc003zkr.2_Silent_p.V484V|PTPRD_uc003zks.2_Silent_p.V480V|PTPRD_uc003zkl.2_Silent_p.V490V|PTPRD_uc003zkm.2_Silent_p.V477V|PTPRD_uc003zkn.2_Silent_p.V490V|PTPRD_uc003zko.2_Silent_p.V487V	p.V490V	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2181	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	490			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.1470C>T	CCDS43786.1																																																																																				0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			26	83	0	0	0	0.003954	0	26	83				
FOCAD	54914	broad.mit.edu	37	9	20912903	20912903	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:20912903A>G	ENST00000380249.1	+	25	3121	c.2757A>G	c.(2755-2757)ggA>ggG	p.G919G	FOCAD_ENST00000338382.6_Silent_p.G919G|FOCAD_ENST00000605086.1_Silent_p.G355G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	919						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TAAAACATGGAAAAGAAGAAC	0.428																																							uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(2755-2757)GGA>GGG		hypothetical protein LOC54914							122.0	115.0	118.0					9																	20912903		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20912903A>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2757A>G	9.37:g.20912903A>G						KIAA1797_uc003zoh.1_Silent_p.G355G	p.G919G	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	25	3120	+			919					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.2757A>G	CCDS34993.1																																																																																				0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		20	25	0	0	0	0.002299	0	20	25				
TOPORS	10210	broad.mit.edu	37	9	32542019	32542019	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:32542019T>C	ENST00000360538.2	-	3	2620	c.2504A>G	c.(2503-2505)aAc>aGc	p.N835S	TOPORS_ENST00000379858.1_Missense_Mutation_p.N770S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	835	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N835S(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTTTTGTAGTTTCCATCCAA	0.413																																							uc003zrb.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2503-2505)AAC>AGC		topoisomerase I binding, arginine/serine-rich							172.0	168.0	169.0					9																	32542019		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542019T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2504A>G	9.37:g.32542019T>C	ENSP00000353735:p.Asn835Ser					TOPORS_uc003zrc.2_Missense_Mutation_p.N768S	p.N835S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2671	-			835			Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2504A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	0.103	-1.148782	0.01714	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.12984	2.63;2.63	5.61	-0.685	0.11328	.	0.648907	0.14504	N	0.315543	T	0.04137	0.0115	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43988	-0.9357	10	0.05525	T	0.97	-5.5548	7.9781	0.30166	0.0:0.4907:0.1345:0.3748	.	835	Q9NS56	TOPRS_HUMAN	S	835;770	ENSP00000353735:N835S;ENSP00000369187:N770S	ENSP00000353735:N835S	N	-	2	0	TOPORS	32532019	0.000000	0.05858	0.578000	0.28575	0.995000	0.86356	-0.880000	0.04183	-0.049000	0.13379	0.528000	0.53228	AAC		0.413	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	173	0	0	0	0.004482	0	8	173				
C9orf131	138724	broad.mit.edu	37	9	35044946	35044946	+	Missense_Mutation	SNP	A	A	G	rs374873778		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:35044946A>G	ENST00000312292.5	+	2	2367	c.2320A>G	c.(2320-2322)Acc>Gcc	p.T774A	C9orf131_ENST00000421362.2_Missense_Mutation_p.T726A|C9orf131_ENST00000354479.5_Missense_Mutation_p.T701A|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	774										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGAGTTGCTCACCCATCCTGG	0.592																																							uc003zvw.2		NA																	0					0						c.(2320-2322)ACC>GCC		hypothetical protein LOC138724 isoform A							89.0	93.0	91.0					9																	35044946		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044946A>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2320A>G	9.37:g.35044946A>G	ENSP00000308279:p.Thr774Ala					C9orf131_uc003zvu.2_Missense_Mutation_p.T726A|C9orf131_uc003zvv.2_Missense_Mutation_p.T701A|C9orf131_uc003zvx.2_Missense_Mutation_p.T739A	p.T774A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2349	+	all_epithelial(49;0.22)		774					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2320A>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	7.697	0.692273	0.15039	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14766	2.48;2.48;2.48	4.35	-6.86	0.01676	.	1.514430	0.03987	N	0.294348	T	0.08980	0.0222	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.14012	0.003;0.003;0.009;0.009	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.35968	-0.9767	10	0.14656	T	0.56	3.6567	0.4727	0.00535	0.2198:0.2603:0.2688:0.2512	.	249;774;701;726	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	A	726;701;774;249	ENSP00000393683:T726A;ENSP00000346472:T701A;ENSP00000308279:T774A	ENSP00000308279:T774A	T	+	1	0	C9orf131	35034946	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.208000	0.09371	-1.042000	0.03262	-0.460000	0.05396	ACC		0.592	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		26	111	0	0	0	0.004656	0	26	111				
CA9	768	broad.mit.edu	37	9	35682149	35682149	+	IGR	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:35682149T>C	ENST00000378357.4	+	0	1618				TPM2_ENST00000329305.2_Missense_Mutation_p.S262G|TPM2_ENST00000378300.5_3'UTR|TPM2_ENST00000378292.3_Missense_Mutation_p.S262G	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TCCTTGGCACTGGCCAAGGTC	0.607																																							uc003zxq.2		NA																	0				ovary(1)	1						c.(784-786)AGT>GGT		tropomyosin 2 (beta) isoform 2							72.0	62.0	65.0					9																	35682149		2203	4300	6503	SO:0001628	intergenic_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35682149T>C	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029		9.37:g.35682149T>C						TPM2_uc003zxr.2_3'UTR	p.S262G	NM_213674	NP_998839	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1023	-	all_epithelial(49;0.121)		262			By similarity.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.784A>G	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587701	0.46110	.	.	ENSG00000198467	ENST00000378292;ENST00000329305	D;D	0.97480	-4.4;-4.4	5.12	5.12	0.69794	.	.	.	.	.	D	0.95156	0.8430	M	0.63428	1.95	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	D	0.92630	0.6115	9	0.29301	T	0.29	.	12.4193	0.55512	0.0:0.0:0.0:1.0	.	262	P07951-2	.	G	262	ENSP00000367542:S262G;ENSP00000367541:S262G	ENSP00000367541:S262G	S	-	1	0	TPM2	35672149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.194000	0.42668	2.155000	0.67459	0.482000	0.46254	AGT		0.607	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		20	30	0	0	0	0.010504	0	20	30				
SPATA31A6	389730	broad.mit.edu	37	9	43626696	43626696	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:43626696C>T	ENST00000332857.6	-	4	2019	c.1991G>A	c.(1990-1992)tGc>tAc	p.C664Y	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	664					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGATGTGGGCACAGGTCCCT	0.567																																							uc011lrb.1		NA																	0					0						c.(1990-1992)TGC>TAC		hypothetical protein LOC389730							2.0	3.0	3.0					9																	43626696		502	1372	1874	SO:0001583	missense	389730					integral to membrane		g.chr9:43626696C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1991G>A	9.37:g.43626696C>T	ENSP00000329825:p.Cys664Tyr						p.C664Y	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	2020	-			664						Missense_Mutation	SNP	ENST00000332857.6	37	c.1991G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	8.721	0.914350	0.17907	.	.	ENSG00000185775	ENST00000332857	T	0.06608	3.28	2.41	-0.73	0.11154	.	1.386620	0.04639	N	0.404983	T	0.11537	0.0281	L	0.40543	1.245	0.09310	N	1	D	0.61080	0.989	P	0.58820	0.846	T	0.21484	-1.0244	10	0.36615	T	0.2	-0.0234	3.2661	0.06865	0.0:0.5056:0.2281:0.2663	.	664	Q5VVP1	F75A6_HUMAN	Y	664	ENSP00000329825:C664Y	ENSP00000329825:C664Y	C	-	2	0	FAM75A6	43566692	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.333000	0.07894	-0.158000	0.11040	0.383000	0.25322	TGC		0.567	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		67	162	0	0	0	0.00361	0	67	162				
TRPM6	140803	broad.mit.edu	37	9	77397757	77397757	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:77397757A>G	ENST00000360774.1	-	22	3169	c.2932T>C	c.(2932-2934)Ttc>Ctc	p.F978L	TRPM6_ENST00000361255.3_Missense_Mutation_p.F973L|TRPM6_ENST00000376864.4_Missense_Mutation_p.F978L|TRPM6_ENST00000451710.3_Missense_Mutation_p.F978L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.F973L|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	978					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACAATATAGAACATGTTTGCT	0.443																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2932-2934)TTC>CTC		transient receptor potential cation channel,							91.0	82.0	85.0					9																	77397757		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77397757A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2932T>C	9.37:g.77397757A>G	ENSP00000354006:p.Phe978Leu					TRPM6_uc004ajk.1_Missense_Mutation_p.F973L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.F264L	p.F978L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			22	3170	-			978			Helical; (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2932T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718289	0.89205	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	L	0.58101	1.795	0.80722	D	1	P;D;P	0.89917	0.598;1.0;0.708	B;D;B	0.83275	0.399;0.996;0.279	D	0.84225	0.0463	10	0.33940	T	0.23	.	15.9896	0.80193	1.0:0.0:0.0:0.0	.	641;978;973	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	L	978;978;973;973;978;641;641	ENSP00000354006:F978L;ENSP00000407341:F978L;ENSP00000396672:F973L;ENSP00000354962:F973L;ENSP00000366060:F978L	ENSP00000309693:F641L	F	-	1	0	TRPM6	76587577	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.105000	0.64591	2.184000	0.69523	0.459000	0.35465	TTC		0.443	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	42	0	0	0	0.001368	0	12	42				
PCSK5	5125	broad.mit.edu	37	9	78771962	78771962	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:78771962G>T	ENST00000545128.1	+	11	1852	c.1314G>T	c.(1312-1314)gtG>gtT	p.V438V	PCSK5_ENST00000376767.3_Splice_Site_p.V438V|PCSK5_ENST00000376752.4_Splice_Site_p.V438V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	438	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCCACAGTGAGCCATCTTT	0.522																																							uc004ajz.2		NA																	0				ovary(2)|skin(1)	3						c.(1312-1314)GTG>GTT		proprotein convertase subtilisin/kexin type 5							151.0	134.0	140.0					9																	78771962		2203	4300	6503	SO:0001630	splice_region_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78771962G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1313-1G>T	9.37:g.78771962G>T						PCSK5_uc004ajy.2_Silent_p.V438V|PCSK5_uc004aka.2_RNA	p.V438V	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			11	1852	+			438			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1314G>T	CCDS55320.1																																																																																				0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Silent	31	77	1	0	6.04164e-23	0.002096	7.84531e-23	31	77				
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	C	T	rs372019796		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:79898509C>T	ENST00000360280.3	+	31	3542	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	VPS13A_ENST00000376634.4_Silent_p.N1094N|VPS13A_ENST00000357409.5_Silent_p.N1094N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.N1055N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1094					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGAAATAAACGCAAAGCTAA	0.284																																							uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3280-3282)AAC>AAT		vacuolar protein sorting 13A isoform A		T	,,,	0,4404		0,0,2202	50.0	52.0	52.0		3165,3282,3282,3282	3.3	1.0	9		52	1,8587	808.3+/-407.2	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,,	1055/3136,1094/3070,1094/3096,1094/3175	79898509	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898509C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3282C>T	9.37:g.79898509C>T						VPS13A_uc004akp.3_Silent_p.N1094N|VPS13A_uc004akq.3_Silent_p.N1094N|VPS13A_uc004aks.2_Silent_p.N1055N	p.N1094N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			31	3542	+			1094					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3282C>T	CCDS6655.1																																																																																				0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		10	22	0	0	0	0.000978	0	10	22				
VPS13A	23230	broad.mit.edu	37	9	79930204	79930204	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:79930204A>C	ENST00000360280.3	+	38	4708	c.4448A>C	c.(4447-4449)gAc>gCc	p.D1483A	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1483A|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1483A|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1444A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1483					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAAAAAAGACATGATGGAT	0.348																																							uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(4447-4449)GAC>GCC		vacuolar protein sorting 13A isoform A							152.0	150.0	151.0					9																	79930204		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79930204A>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4448A>C	9.37:g.79930204A>C	ENSP00000353422:p.Asp1483Ala					VPS13A_uc004akp.3_Missense_Mutation_p.D1483A|VPS13A_uc004akq.3_Missense_Mutation_p.D1483A|VPS13A_uc004aks.2_Missense_Mutation_p.D1444A|VPS13A_uc004akt.2_5'Flank|VPS13A_uc010mpo.1_Missense_Mutation_p.D79A	p.D1483A	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			38	4708	+			1483					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.4448A>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	7.243	0.601728	0.13939	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	1.03;0.85;0.94;1.03	5.31	5.31	0.75309	.	0.242070	0.34853	N	0.003631	T	0.34250	0.0891	L	0.51422	1.61	0.80722	D	1	B;P;P;P	0.44044	0.13;0.555;0.825;0.825	B;B;B;B	0.37650	0.039;0.096;0.255;0.255	T	0.25916	-1.0118	10	0.06625	T	0.88	.	9.0422	0.36325	0.7173:0.0:0.0:0.2827	.	1444;1483;1483;1483	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	1483;1444;1483;1483	ENSP00000365821:D1483A;ENSP00000365823:D1444A;ENSP00000353422:D1483A;ENSP00000349985:D1483A	ENSP00000349985:D1483A	D	+	2	0	VPS13A	79120024	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.911000	0.39937	2.020000	0.59435	0.383000	0.25322	GAC		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		19	52	0	0	0	0.010504	0	19	52				
KIF27	55582	broad.mit.edu	37	9	86474140	86474140	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:86474140C>A	ENST00000297814.2	-	14	3224	c.3081G>T	c.(3079-3081)aaG>aaT	p.K1027N	RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K961N|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K930N|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1027					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGAGCTGATCCTTTTCTTTCT	0.413																																							uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(3079-3081)AAG>AAT		kinesin family member 27							232.0	201.0	211.0					9																	86474140		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474140C>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3081G>T	9.37:g.86474140C>A	ENSP00000297814:p.Lys1027Asn					KIF27_uc010mpw.2_Missense_Mutation_p.K961N|KIF27_uc010mpx.2_Missense_Mutation_p.K930N	p.K1027N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			14	3225	-			1027			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3081G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550591	0.45383	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.50548	0.74;0.74;0.74	4.5	1.13	0.20643	.	0.233665	0.27577	N	0.018748	T	0.44456	0.1294	M	0.67397	2.05	0.09310	N	1	P;P;P	0.46512	0.879;0.554;0.546	B;B;B	0.42030	0.372;0.373;0.205	T	0.42085	-0.9472	10	0.59425	D	0.04	.	10.3884	0.44154	0.0:0.6468:0.0:0.3532	.	930;961;1027	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1027;961;930	ENSP00000297814:K1027N;ENSP00000401688:K961N;ENSP00000333928:K930N	ENSP00000297814:K1027N	K	-	3	2	KIF27	85663960	0.998000	0.40836	0.999000	0.59377	0.691000	0.40173	0.587000	0.23909	0.416000	0.25844	0.491000	0.48974	AAG		0.413	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		20	103	1	0	1.55795e-14	0.001882	1.94197e-14	20	103				
SLC28A3	64078	broad.mit.edu	37	9	86920183	86920184	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:86920183_86920184CC>AA	ENST00000376238.4	-	4	368_369	c.319_320GG>TT	c.(319-321)GGc>TTc	p.G107F	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G38F|SLC28A3_ENST00000495823.1_5'Flank	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	107					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TAATAAAATGCCCCAGATGATG	0.366																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(319-321)GGC>TTC		concentrative Na+-nucleoside cotransporter																																				SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86920183_86920184CC>AA	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.319_320delinsAA	9.37:g.86920183_86920184delinsAA	ENSP00000365413:p.Gly107Phe					SLC28A3_uc011lsy.1_Missense_Mutation_p.G38F|SLC28A3_uc004anu.1_Missense_Mutation_p.G107F|SLC28A3_uc010mqb.2_Missense_Mutation_p.G38F	p.G107F	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			4	444_445	-			107			Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	DNP	ENST00000376238.4	37	c.319_320GG>TT	CCDS6670.1																																																																																				0.366	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		10	57	0	0	0	0.004672	0	10	57				
RP13-60M5.2	0	broad.mit.edu	37	9	91262457	91262457	+	lincRNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:91262457C>A	ENST00000418343.2	-	0	294																											AATGAGTTATCATCTCTCCTG	0.438																																							uc010mql.1		NA																	0					0						c.(184-186)ATG>ATT		hypothetical protein LOC286238							174.0	168.0	170.0					9																	91262457		1942	4135	6077			286238							g.chr9:91262457C>A																													9.37:g.91262457C>A							p.M62I	NM_001100111	NP_001093581					2	319	-									Missense_Mutation	SNP	ENST00000418343.2	37	c.186G>T																																																																																					0.438	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			18	58	1	0	5.03518e-11	0.007413	6.08724e-11	18	58				
ERCC6L2	375748	broad.mit.edu	37	9	98684621	98684621	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:98684621A>G	ENST00000288985.7	+	8	1672	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.Y267C	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	456					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AAAACCTTGTATCTCAGTTAC	0.388																																							uc004avt.3		NA																	0					0						c.(1366-1368)TAT>TGT		RAD26L hypothetical protein							101.0	89.0	93.0					9																	98684621		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98684621A>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1367A>G	9.37:g.98684621A>G	ENSP00000288985:p.Tyr456Cys					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y158C|C9orf102_uc010mry.1_Missense_Mutation_p.Y158C|C9orf102_uc010mrz.2_Missense_Mutation_p.Y267C|C9orf102_uc004avu.2_5'UTR	p.Y456C	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			8	1755	+		Acute lymphoblastic leukemia(62;0.0559)	456					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.1367A>G	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637317	0.29157	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	T;T	0.75050	-0.9;-0.9	5.29	1.7	0.24286	SNF2-related (1);	0.266300	0.25935	N	0.027349	T	0.56307	0.1976	N	0.19112	0.55	0.80722	D	1	B;B;B	0.16166	0.001;0.016;0.004	B;B;B	0.16289	0.003;0.011;0.015	T	0.41106	-0.9527	10	0.38643	T	0.18	-2.8662	9.3808	0.38313	0.7468:0.0:0.2532:0.0	.	267;138;456	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	C	138;456;267	ENSP00000288985:Y456C;ENSP00000416286:Y267C	ENSP00000288985:Y456C	Y	+	2	0	C9orf102	97724442	1.000000	0.71417	0.963000	0.40424	0.947000	0.59692	2.686000	0.46968	0.044000	0.15775	0.477000	0.44152	TAT		0.388	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		7	27	0	0	0	0.00308	0	7	27				
CCDC180	100499483	broad.mit.edu	37	9	100079414	100079414	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:100079414C>T	ENST00000357054.1	+	23	2347	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	CCDC180_ENST00000395220.1_Missense_Mutation_p.S471F|CCDC180_ENST00000411667.2_Missense_Mutation_p.S329F|CCDC180_ENST00000375202.2_Missense_Mutation_p.S332F|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S332F|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	471						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGATGGAGTCCACCCTGCAG	0.607																																							uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1411-1413)TCC>TTC		hypothetical protein LOC57653							70.0	66.0	67.0					9																	100079414		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100079414C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1412C>T	9.37:g.100079414C>T	ENSP00000349562:p.Ser471Phe					KIAA1529_uc004axe.1_Missense_Mutation_p.S471F|KIAA1529_uc004axg.1_Missense_Mutation_p.S332F|KIAA1529_uc011lus.1_Missense_Mutation_p.S289F|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S332F|KIAA1529_uc011luv.1_Missense_Mutation_p.S329F	p.S471F	NM_020893	NP_065944					21	2185	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1412C>T		.	.	.	.	.	.	.	.	.	.	C	16.05	3.014025	0.54468	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.28	4.39	0.52855	.	0.266564	0.35936	N	0.002894	T	0.38026	0.1025	L	0.46157	1.445	0.30042	N	0.812507	D;P;P;P	0.65815	0.995;0.799;0.799;0.799	P;B;B;B	0.61201	0.885;0.366;0.366;0.366	T	0.31392	-0.9945	10	0.62326	D	0.03	-4.0094	10.3074	0.43689	0.0:0.908:0.0:0.092	.	329;471;332;471	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	F	471;471;332;329;355;332	ENSP00000349562:S471F;ENSP00000378646:S471F;ENSP00000364348:S332F;ENSP00000414000:S329F;ENSP00000434727:S332F	ENSP00000349562:S471F	S	+	2	0	C9orf174	99119235	0.949000	0.32298	0.991000	0.47740	0.983000	0.72400	2.697000	0.47060	1.379000	0.46325	0.563000	0.77884	TCC		0.607	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	105	0	0	0	0.006214	0	8	105				
RNF20	56254	broad.mit.edu	37	9	104314667	104314667	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:104314667A>G	ENST00000389120.3	+	13	1623	c.1533A>G	c.(1531-1533)acA>acG	p.T511T	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	511					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTCCCAGACACGCCTGCGTA	0.458																																							uc004bbn.2		NA																	0				ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1531-1533)ACA>ACG		ring finger protein 20							172.0	188.0	183.0					9																	104314667		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314667A>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1533A>G	9.37:g.104314667A>G							p.T511T	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	13	1623	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	511			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1533A>G	CCDS35084.1																																																																																				0.458	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		46	157	0	0	0	0.00361	0	46	157				
AKNA	80709	broad.mit.edu	37	9	117122002	117122002	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:117122002C>T	ENST00000307564.4	-	11	2525	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	AKNA_ENST00000312033.3_Silent_p.E788E|AKNA_ENST00000223791.3_Silent_p.E248E|AKNA_ENST00000374075.5_Silent_p.E707E|AKNA_ENST00000374088.3_Silent_p.E788E	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	788	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ccccctcttcctcctcctcct	0.597																																							uc004biq.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(2362-2364)GAG>GAA		AT-hook transcription factor							56.0	50.0	52.0					9																	117122002		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117122002C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2364G>A	9.37:g.117122002C>T						AKNA_uc004bin.3_Silent_p.E35E|AKNA_uc004bio.3_Silent_p.E248E|AKNA_uc004bip.3_Silent_p.E707E|AKNA_uc004bir.3_Silent_p.E788E|AKNA_uc004bis.3_Silent_p.E788E|AKNA_uc010mve.2_Silent_p.E669E|AKNA_uc004biu.1_Silent_p.E529E|AKNA_uc004biv.1_Silent_p.E788E	p.E788E	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			10	2499	-			788			PEST.		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.2364G>A	CCDS6805.1																																																																																				0.597	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		9	31	0	0	0	0.004482	0	9	31				
RC3H2	54542	broad.mit.edu	37	9	125617600	125617600	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:125617600A>C	ENST00000373670.1	-	14	3278	c.2678T>G	c.(2677-2679)aTa>aGa	p.I893R	RC3H2_ENST00000357244.2_Missense_Mutation_p.I893R|RC3H2_ENST00000423239.2_Missense_Mutation_p.I893R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	893					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AAAGGGAATTATTGGATCTTC	0.423																																							uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(2677-2679)ATA>AGA		ring finger and CCCH-type zinc finger domains 2							150.0	142.0	145.0					9																	125617600		1894	4117	6011	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125617600A>C	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2678T>G	9.37:g.125617600A>C	ENSP00000362774:p.Ile893Arg					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.I893R|RC3H2_uc004bne.3_Missense_Mutation_p.I893R	p.I893R	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			15	2919	-			893					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2678T>G	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767742	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.54479	0.57;0.57;0.59	5.12	5.12	0.69794	.	0.047146	0.85682	D	0.000000	T	0.52853	0.1760	L	0.42245	1.32	0.80722	D	1	P;P	0.47677	0.838;0.899	B;P	0.48227	0.367;0.571	T	0.58070	-0.7701	10	0.87932	D	0	-9.3829	12.9637	0.58472	1.0:0.0:0.0:0.0	.	893;893	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	R	893;893;764;893;28	ENSP00000362774:I893R;ENSP00000349783:I893R;ENSP00000411767:I893R	ENSP00000349783:I893R	I	-	2	0	RC3H2	124657421	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.469000	0.90395	2.052000	0.61016	0.533000	0.62120	ATA		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		9	53	0	0	0	0.004482	0	9	53				
NTMT1	28989	broad.mit.edu	37	9	132396449	132396449	+	Silent	SNP	G	G	A	rs368483094		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:132396449G>A	ENST00000372486.1	+	3	628	c.279G>A	c.(277-279)acG>acA	p.T93T	NTMT1_ENST00000372483.4_Silent_p.T93T|NTMT1_ENST00000372480.1_Silent_p.T93T|NTMT1_ENST00000372481.3_Silent_p.T93T|NTMT1_ENST00000482347.1_Silent_p.T5T|NTMT1_ENST00000486391.2_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	93	S-adenosyl-L-methionine binding.				chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										TCGACATAACGGAGGACTTCC	0.602																																							uc004byd.1		NA																	0					0						c.(277-279)ACG>ACA		methyltransferase like 11A		G		1,4405	2.1+/-5.4	0,1,2202	120.0	113.0	116.0		279	-7.6	0.8	9		116	0,8600		0,0,4300	no	coding-synonymous	METTL11A	NM_014064.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		93/224	132396449	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28989				chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity	g.chr9:132396449G>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.279G>A	9.37:g.132396449G>A						METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Silent_p.T93T	p.T93T	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN			3	473	+			93			S-adenosyl-L-methionine binding.		A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	c.279G>A	CCDS35160.1																																																																																				0.602	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		23	110	0	0	0	0.002299	0	23	110				
PRDM12	59335	broad.mit.edu	37	9	133542019	133542019	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:133542019T>A	ENST00000253008.2	+	2	308	c.248T>A	c.(247-249)gTg>gAg	p.V83E		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	83					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TCCAGCCTGGTGCTGCCTGCG	0.687																																							uc004bzt.1		NA																	0					0						c.(247-249)GTG>GAG		PR domain containing 12							61.0	61.0	61.0					9																	133542019		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133542019T>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.248T>A	9.37:g.133542019T>A	ENSP00000253008:p.Val83Glu						p.V83E	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	308	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	83					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.248T>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195169	0.78902	.	.	ENSG00000130711	ENST00000253008	T	0.43294	0.95	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.56769	1.78	0.58432	D	0.999997	D	0.55605	0.972	P	0.53809	0.735	T	0.48210	-0.9055	10	0.02654	T	1	-36.2185	14.1628	0.65457	0.0:0.0:0.0:1.0	.	83	Q9H4Q4	PRD12_HUMAN	E	83	ENSP00000253008:V83E	ENSP00000253008:V83E	V	+	2	0	PRDM12	132531840	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.467000	0.80930	1.953000	0.56701	0.402000	0.26972	GTG		0.687	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		7	94	0	0	0	0.00308	0	7	94				
ABL1	25	broad.mit.edu	37	9	133760409	133760409	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:133760409G>T	ENST00000318560.5	+	11	3113	c.2732G>T	c.(2731-2733)gGa>gTa	p.G911V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	911	DNA-binding. {ECO:0000250}.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGGAAGGCTGGAGGAAAGCCC	0.642			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																		uc004bzw.2		NA		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2731-2733)GGA>GTA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						9.0	13.0	12.0					9																	133760409		2178	4272	6450	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760409G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2732G>T	9.37:g.133760409G>T	ENSP00000323315:p.Gly911Val					ABL1_uc004bzv.2_Missense_Mutation_p.G930V	p.G911V	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2735	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	911			DNA-binding (By similarity).|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2732G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.882186	0.00532	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.72725	-0.68;-0.68	0.235	0.235	0.15431	.	0.322267	0.33631	N	0.004714	T	0.60327	0.2260	N	0.08118	0	0.09310	N	0.999999	D;B	0.64830	0.994;0.049	D;B	0.67725	0.953;0.003	T	0.55108	-0.8192	9	0.22109	T	0.4	.	.	.	.	.	911;948	P00519;Q59FK4	ABL1_HUMAN;.	V	726;930;911	ENSP00000361423:G930V;ENSP00000323315:G911V	ENSP00000323315:G911V	G	+	2	0	ABL1	132750230	0.606000	0.26949	0.133000	0.22050	0.967000	0.64934	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	GGA		0.642	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		16	25	1	0	4.14922e-12	0.004007	5.07036e-12	16	25				
POMT1	10585	broad.mit.edu	37	9	134398399	134398399	+	Missense_Mutation	SNP	G	G	A	rs373402995		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:134398399G>A	ENST00000372228.3	+	20	2329	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	POMT1_ENST00000541219.1_Missense_Mutation_p.R435H|UCK1_ENST00000459858.1_5'Flank|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.R695H|POMT1_ENST00000354713.4_Missense_Mutation_p.R665H|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000404875.2_Missense_Mutation_p.R578H|POMT1_ENST00000341012.7_Missense_Mutation_p.R641H|POMT1_ENST00000419118.2_Missense_Mutation_p.R543H|POMT1_ENST00000423007.1_Missense_Mutation_p.R695H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	717					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AACACGCTGCGCCCACTCACC	0.597																																							uc004cav.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2149-2151)CGC>CAC		protein-O-mannosyltransferase 1 isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	55.0	61.0		2084,1922,2084,1733,2150	4.7	1.0	9		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	695/726,641/672,695/726,578/609,717/748	134398399	1,13005	2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134398399G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.2150G>A	9.37:g.134398399G>A	ENSP00000361302:p.Arg717His					POMT1_uc004cax.2_Missense_Mutation_p.R695H|POMT1_uc011mcj.1_Missense_Mutation_p.R435H|POMT1_uc004cau.2_Missense_Mutation_p.R695H|POMT1_uc004caw.2_Missense_Mutation_p.R641H|POMT1_uc011mck.1_Missense_Mutation_p.R578H|POMT1_uc011mcl.1_Missense_Mutation_p.R543H|POMT1_uc011mcm.1_Missense_Mutation_p.R665H	p.R717H	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	20	2352	+		Myeloproliferative disorder(178;0.204)	717					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.2150G>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478737	0.63849	0.0	1.16E-4	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	4.7	4.7	0.59300	.	0.187957	0.56097	D	0.000032	D	0.91543	0.7329	L	0.43923	1.385	0.42359	D	0.992406	D;D;D;D	0.63046	0.981;0.959;0.992;0.989	P;P;P;P	0.52710	0.608;0.54;0.67;0.707	D	0.89714	0.3914	10	0.20519	T	0.43	-28.2161	16.605	0.84826	0.0:0.0:1.0:0.0	.	665;435;717;695	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	695;578;641;717;695;543;435;665;316	ENSP00000404119:R695H;ENSP00000384531:R578H;ENSP00000343034:R641H;ENSP00000361302:R717H;ENSP00000385797:R695H;ENSP00000403032:R543H;ENSP00000440895:R435H;ENSP00000346748:R665H;ENSP00000361294:R316H	ENSP00000343034:R641H	R	+	2	0	POMT1	133388220	1.000000	0.71417	0.997000	0.53966	0.080000	0.17528	7.490000	0.81461	2.156000	0.67533	0.561000	0.74099	CGC		0.597	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		4	25	0	0	0	0.009096	0	4	25				
RAPGEF1	2889	broad.mit.edu	37	9	134504533	134504533	+	Silent	SNP	C	C	T	rs369097854	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:134504533C>T	ENST00000372189.3	-	7	921	c.798G>A	c.(796-798)gcG>gcA	p.A266A	RAPGEF1_ENST00000372195.1_Silent_p.A283A|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Silent_p.A284A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	266					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTTGGGGGGCGCGACCTCTT	0.542													c|||	7	0.00139776	0.0053	0.0	5008	,	,		17165	0.0		0.0	False		,,,				2504	0.0						uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(796-798)GCG>GCA		guanine nucleotide-releasing factor 2 isoform a		T	,	19,3861		0,19,1921	74.0	80.0	79.0		798,852	-11.1	0.0	9		79	0,8250		0,0,4125	no	coding-synonymous,coding-synonymous	RAPGEF1	NM_005312.2,NM_198679.1	,	0,19,6046	TT,TC,CC		0.0,0.4897,0.1566	,	266/1078,284/1096	134504533	19,12111	1940	4125	6065	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504533C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.798G>A	9.37:g.134504533C>T						RAPGEF1_uc004cbb.2_Silent_p.A284A|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Silent_p.A271A|RAPGEF1_uc004cbd.2_Silent_p.A271A	p.A266A	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	7	928	-		Myeloproliferative disorder(178;0.204)	266					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.798G>A	CCDS48047.1																																																																																				0.542	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		17	71	0	0	0	0.00499	0	17	71				
SETX	23064	broad.mit.edu	37	9	135187144	135187144	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:135187144C>T	ENST00000224140.5	-	11	5556	c.5374G>A	c.(5374-5376)Gtt>Att	p.V1792I	SETX_ENST00000393220.1_Splice_Site_p.V1792I|SETX_ENST00000372169.2_Splice_Site_p.V1792I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1792					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAACTTACCTGCAAACTCC	0.338																																							uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(5374-5376)GTT>ATT		senataxin							39.0	42.0	41.0					9																	135187144		2203	4299	6502	SO:0001630	splice_region_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135187144C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5374+1G>A	9.37:g.135187144C>T						SETX_uc004cbj.2_Missense_Mutation_p.V1411I|SETX_uc010mzt.2_Missense_Mutation_p.V1411I	p.V1792I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	11	5557	-		Myeloproliferative disorder(178;0.204)	1792					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5374G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	2.352	-0.348549	0.05208	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90676	-2.17;-2.71;-2.25;-1.87	5.12	2.27	0.28462	.	1.121610	0.06660	N	0.764291	D	0.84325	0.5447	L	0.34521	1.04	0.19775	N	0.999954	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.09377	0.001;0.002;0.004	T	0.67933	-0.5542	9	.	.	.	.	6.7418	0.23441	0.0:0.7059:0.0:0.2941	.	1792;1792;1792	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	1792;34;1792;1792	ENSP00000224140:V1792I;ENSP00000409143:V34I;ENSP00000361242:V1792I;ENSP00000376913:V1792I	.	V	-	1	0	SETX	134176965	0.949000	0.32298	0.963000	0.40424	0.119000	0.20118	1.138000	0.31491	0.417000	0.25871	-0.147000	0.13772	GTT		0.338	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	Missense_Mutation	7	32	0	0	0	0.001984	0	7	32				
GFI1B	8328	broad.mit.edu	37	9	135864570	135864570	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:135864570G>A	ENST00000339463.3	+	9	1452	c.633G>A	c.(631-633)acG>acA	p.T211T	GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372122.1_Silent_p.T211T|GFI1B_ENST00000450530.1_Silent_p.T211T|GFI1B_ENST00000372124.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	211	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGCAGCACACGCACGTCCACT	0.672																																							uc004ccg.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(631-633)ACG>ACA		growth factor independent 1B transcription							54.0	45.0	48.0					9																	135864570		2202	4300	6502	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135864570G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.633G>A	9.37:g.135864570G>A						GFI1B_uc010mzy.2_Intron	p.T211T	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	5	784	+			211			C2H2-type 2.|Mediates interaction with GATA1.|Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.633G>A	CCDS6957.1																																																																																				0.672	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		14	54	0	0	0	0.004007	0	14	54				
ADAMTSL2	9719	broad.mit.edu	37	9	136412196	136412196	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:136412196G>A	ENST00000354484.4	+	9	1357	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G267D|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.G376D	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	267					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TTCTTCAACGGCAACTACAAG	0.562																																							uc011mdl.1		NA																	0				ovary(1)	1						c.(799-801)GGC>GAC		ADAMTS-like 2 precursor							193.0	189.0	191.0					9																	136412196		2203	4300	6503	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136412196G>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.800G>A	9.37:g.136412196G>A	ENSP00000346478:p.Gly267Asp					ADAMTSL2_uc004cei.2_Missense_Mutation_p.G267D	p.G267D	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	9	1357	+			267					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.800G>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129406	0.94473	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.61392	0.11;0.11;0.11	5.16	5.16	0.70880	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000004	D	0.82843	0.5125	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87771	0.2605	10	0.87932	D	0	.	18.6451	0.91408	0.0:0.0:1.0:0.0	.	267	Q86TH1	ATL2_HUMAN	D	267;376;267	ENSP00000346478:G267D;ENSP00000376781:G376D;ENSP00000376780:G267D	ENSP00000346478:G267D	G	+	2	0	ADAMTSL2	135402017	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.714000	0.98744	2.385000	0.81259	0.561000	0.74099	GGC		0.562	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		44	280	0	0	0	0.00361	0	44	280				
KCNT1	57582	broad.mit.edu	37	9	138657025	138657025	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:138657025C>T	ENST00000263604.3	+	12	1127	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNT1_ENST00000487664.1_Missense_Mutation_p.A350V|KCNT1_ENST00000298480.5_Missense_Mutation_p.A395V|KCNT1_ENST00000488444.2_Missense_Mutation_p.A376V|KCNT1_ENST00000371757.2_Missense_Mutation_p.A395V|KCNT1_ENST00000486577.2_Missense_Mutation_p.A356V|KCNT1_ENST00000490355.2_Missense_Mutation_p.A376V|KCNT1_ENST00000491806.2_Missense_Mutation_p.A362V			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	376					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAGTTCTACGCCCACCCCCGG	0.632																																							uc011mdq.1		NA																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(1183-1185)GCC>GTC		potassium channel, subfamily T, member 1							160.0	150.0	154.0					9																	138657025		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657025C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1127C>T	9.37:g.138657025C>T	ENSP00000263604:p.Ala376Val					KCNT1_uc011mdr.1_Missense_Mutation_p.A222V|KCNT1_uc010nbf.2_Missense_Mutation_p.A350V|KCNT1_uc004cgo.1_Missense_Mutation_p.A144V	p.A395V	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1258	+		Myeloproliferative disorder(178;0.0821)	395					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1184C>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.569046	0.86439	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.21	4.21	0.49690	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.46737	0.1408	M	0.78916	2.43	0.80722	D	1	D;P;P;B	0.57899	0.981;0.63;0.863;0.249	D;P;P;B	0.68039	0.955;0.636;0.8;0.172	T	0.53429	-0.8440	10	0.72032	D	0.01	-46.5416	15.713	0.77646	0.0:1.0:0.0:0.0	.	362;395;350;376	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	V	350;395;395;356;362;376;376;376	ENSP00000417851:A350V;ENSP00000298480:A395V;ENSP00000360822:A395V;ENSP00000263604:A376V	ENSP00000263604:A376V	A	+	2	0	KCNT1	137796846	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.366000	0.79548	2.181000	0.69327	0.462000	0.41574	GCC		0.632	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		19	98	0	0	0	0.002299	0	19	98				
SDCCAG3	10807	broad.mit.edu	37	9	139301953	139301953	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:139301953A>T	ENST00000357365.3	-	5	592	c.463T>A	c.(463-465)Tat>Aat	p.Y155N	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.Y82N|SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.Y132N	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	155						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCAGGCCATACCCGCCGGTT	0.537																																							uc004chi.2		NA																	0					0						c.(463-465)TAT>AAT		serologically defined colon cancer antigen 3							21.0	27.0	25.0					9																	139301953		1895	4108	6003	SO:0001583	missense	10807					cytoplasm		g.chr9:139301953A>T	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.463T>A	9.37:g.139301953A>T	ENSP00000349929:p.Tyr155Asn					SDCCAG3_uc004chj.2_Missense_Mutation_p.Y132N|SDCCAG3_uc004chk.2_Missense_Mutation_p.Y82N	p.Y155N	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	5	668	-		Myeloproliferative disorder(178;0.0511)	155					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.463T>A	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600203	0.28534	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.31769	2.47;2.52;2.51;1.48	5.27	4.14	0.48551	.	0.844831	0.10654	N	0.649579	T	0.31358	0.0794	L	0.56769	1.78	0.09310	N	1	P;P;P	0.42296	0.775;0.682;0.682	B;B;B	0.41299	0.318;0.353;0.353	T	0.14615	-1.0466	10	0.39692	T	0.17	-16.1465	8.1266	0.31003	0.9077:0.0:0.0923:0.0	.	82;132;155	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	N	155;132;82;105	ENSP00000349929:Y155N;ENSP00000298537:Y132N;ENSP00000360790:Y82N;ENSP00000360788:Y105N	ENSP00000298537:Y132N	Y	-	1	0	SDCCAG3	138421774	0.036000	0.19791	0.133000	0.22050	0.149000	0.21700	2.526000	0.45607	1.986000	0.57962	0.528000	0.53228	TAT		0.537	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		4	24	0	0	0	0.009096	0	4	24				
NOTCH1	4851	broad.mit.edu	37	9	139395128	139395128	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:139395128C>T	ENST00000277541.6	-	31	5885	c.5810G>A	c.(5809-5811)cGc>cAc	p.R1937H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1937					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGAGTAGCGGGCGGCCAG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5809-5811)CGC>CAC		notch1 preproprotein							86.0	105.0	99.0					9																	139395128		2193	4294	6487	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395128C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5810G>A	9.37:g.139395128C>T	ENSP00000277541:p.Arg1937His	HNSCC(8;0.001)					p.R1937H	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5810	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1937			Cytoplasmic (Potential).|ANK 1.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5810G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252358	0.95336	.	.	ENSG00000148400	ENST00000277541	T	0.66460	-0.21	4.68	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.78272	-0.2268	10	0.87932	D	0	.	16.9985	0.86375	0.0:1.0:0.0:0.0	.	1937	P46531	NOTC1_HUMAN	H	1937	ENSP00000277541:R1937H	ENSP00000277541:R1937H	R	-	2	0	NOTCH1	138514949	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.581000	0.82535	2.322000	0.78497	0.555000	0.69702	CGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		41	194	0	0	0	0.00361	0	41	194				
DPH7	92715	broad.mit.edu	37	9	140458994	140458994	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140458994C>A	ENST00000277540.2	-	8	998	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	281					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CCACCCTGCACAGGCGTATCT	0.527																																							uc004cnk.1		NA																	0					0						c.(841-843)GTG>TTG		WD repeat domain 85							191.0	143.0	159.0					9																	140458994		2203	4300	6503	SO:0001583	missense	92715				peptidyl-diphthamide biosynthetic process from peptidyl-histidine			g.chr9:140458994C>A	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.841G>T	9.37:g.140458994C>A	ENSP00000277540:p.Val281Leu					WDR85_uc004cnj.1_Missense_Mutation_p.V10L|WDR85_uc004cnl.1_Missense_Mutation_p.V105L|WDR85_uc004cnm.1_Missense_Mutation_p.V42L|WDR85_uc004cnn.1_Missense_Mutation_p.V10L|WDR85_uc010ncl.1_Missense_Mutation_p.V42L	p.V281L	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	8	999	-	all_cancers(76;0.106)		281					Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.841G>T	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874755	0.33069	.	.	ENSG00000148399	ENST00000277540	T	0.01258	5.09	5.46	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.298467	0.31438	N	0.007653	T	0.00784	0.0026	N	0.10945	0.07	0.26091	N	0.980953	P	0.38395	0.629	B	0.29077	0.098	T	0.52909	-0.8512	10	0.13853	T	0.58	.	10.1455	0.42760	0.0:0.7827:0.0:0.2173	.	281	Q9BTV6	WDR85_HUMAN	L	281	ENSP00000277540:V281L	ENSP00000277540:V281L	V	-	1	0	WDR85	139578815	0.001000	0.12720	0.135000	0.22099	0.326000	0.28443	0.512000	0.22755	0.283000	0.22279	0.491000	0.48974	GTG		0.527	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		20	122	1	0	5.26018e-13	0.001882	6.47246e-13	20	122				
EHMT1	79813	broad.mit.edu	37	9	140693355	140693355	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140693355G>A	ENST00000460843.1	+	17	2623	c.2596G>A	c.(2596-2598)Gtc>Atc	p.V866I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	866					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACAGATGGACGTCAACTGTCA	0.557																																							uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(2596-2598)GTC>ATC		euchromatic histone-lysine N-methyltransferase 1							166.0	126.0	140.0					9																	140693355		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140693355G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2596G>A	9.37:g.140693355G>A	ENSP00000417980:p.Val866Ile						p.V866I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	17	2633	+	all_cancers(76;0.164)		866			ANK 4.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2596G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170439	0.38315	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.71461	-0.57	5.61	5.61	0.85477	Ankyrin repeat-containing domain (4);	0.164904	0.53938	D	0.000041	T	0.65059	0.2655	N	0.17345	0.48	0.80722	D	1	P	0.49862	0.929	P	0.48270	0.572	T	0.65063	-0.6259	10	0.34782	T	0.22	.	19.6207	0.95654	0.0:0.0:1.0:0.0	.	866	Q9H9B1	EHMT1_HUMAN	I	835;866	ENSP00000417980:V866I	ENSP00000360453:V835I	V	+	1	0	EHMT1	139813176	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.548000	0.53670	2.646000	0.89796	0.561000	0.74099	GTC		0.557	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		12	71	0	0	0	0.001368	0	12	71				
GYG2	8908	broad.mit.edu	37	X	2773172	2773172	+	Missense_Mutation	SNP	G	G	A	rs377090556		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:2773172G>A	ENST00000381163.3	+	6	838	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	GYG2_ENST00000338623.5_Missense_Mutation_p.A186T|GYG2_ENST00000542787.1_Missense_Mutation_p.A186T|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.A155T	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	186					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTACAGCACGCCATGGAACA	0.572																																							uc004cqs.1		NA																	0				ovary(1)|kidney(1)	2						c.(556-558)GCC>ACC		glycogenin 2 isoform b		G	THR/ALA,THR/ALA,THR/ALA,,THR/ALA	0,3835		0,0,1632,571	99.0	79.0	85.0		463,463,556,,556	3.5	0.0	X		85	1,6726		0,1,2427,1871	no	missense,missense,missense,utr-5,missense	GYG2	NM_001079855.1,NM_001184702.1,NM_001184703.1,NM_001184704.1,NM_003918.2	58,58,58,,58	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	155/471,155/470,186/431,,186/502	2773172	1,10561	2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2773172G>A	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.556G>A	X.37:g.2773172G>A	ENSP00000370555:p.Ala186Thr					GYG2_uc004cqt.1_Missense_Mutation_p.A155T|GYG2_uc004cqu.1_Missense_Mutation_p.A155T|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.A146T|GYG2_uc004cqx.1_Missense_Mutation_p.A155T|GYG2_uc010ndc.1_5'UTR	p.A186T	NM_003918	NP_003909	O15488	GLYG2_HUMAN			6	838	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	186					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.556G>A	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556166|2.556166	0.45487|0.45487	0.0|0.0	1.49E-4|1.49E-4	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.63913|.	-0.07;-0.07;-0.07;-0.07|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.76414|0.76414	0.3984|0.3984	M|M	0.83953|0.83953	2.67|2.67	0.39047|0.39047	D|D	0.960247|0.960247	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.986;0.996;0.988;0.991;0.994|.	T|T	0.81422|0.81422	-0.0940|-0.0940	10|5	0.87932|.	D|.	0|.	.|.	14.664|14.664	0.68893|0.68893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	186;146;155;155;186|.	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;GLYG2_HUMAN|.	T|H	155;186;186;186|4	ENSP00000381786:A155T;ENSP00000370555:A186T;ENSP00000341273:A186T;ENSP00000446092:A186T|.	ENSP00000341273:A186T|.	A|R	+|+	1|2	0|0	GYG2|GYG2	2783172|2783172	0.996000|0.996000	0.38824|0.38824	0.008000|0.008000	0.14137|0.14137	0.006000|0.006000	0.05464|0.05464	1.449000|1.449000	0.35123|0.35123	1.519000|1.519000	0.48950|0.48950	0.600000|0.600000	0.82982|0.82982	GCC|CGC		0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		22	22	0	0	0	0.00278	0	22	22				
GRPR	2925	broad.mit.edu	37	X	16168617	16168617	+	Silent	SNP	C	C	T	rs536429050		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:16168617C>T	ENST00000380289.2	+	2	1001	c.603C>T	c.(601-603)caC>caT	p.H201H	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	201					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CATACCCACACTCTAATGAGC	0.483																																							uc004cxj.2		NA																	0				ovary(3)|lung(1)	4						c.(601-603)CAC>CAT		gastrin-releasing peptide receptor							240.0	175.0	197.0					X																	16168617		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168617C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.603C>T	X.37:g.16168617C>T							p.H201H	NM_005314	NP_005305	P30550	GRPR_HUMAN			2	1256	+	Hepatocellular(33;0.183)		201			Extracellular (Potential).		B2R910	Silent	SNP	ENST00000380289.2	37	c.603C>T	CCDS14174.1																																																																																				0.483	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		11	61	0	0	0	0.001368	0	11	61				
IL1RAPL1	11141	broad.mit.edu	37	X	29417281	29417281	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:29417281A>T	ENST00000378993.1	+	5	1232	c.559A>T	c.(559-561)Aca>Tca	p.T187S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T187S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	187	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAATGCAGGACAAAAACATG	0.284																																							uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(559-561)ACA>TCA		interleukin 1 receptor accessory protein-like 1							64.0	63.0	63.0					X																	29417281		2202	4297	6499	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417281A>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.559A>T	X.37:g.29417281A>T	ENSP00000368278:p.Thr187Ser						p.T187S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			5	1067	+			187			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.559A>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	4.775	0.144078	0.09134	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.12465	2.68;2.68	5.75	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.312840	0.34652	N	0.003785	T	0.05960	0.0155	N	0.12569	0.235	0.25866	N	0.983761	B	0.02656	0.0	B	0.01281	0.0	T	0.30090	-0.9990	9	.	.	.	.	3.0159	0.06059	0.6214:0.0:0.1771:0.2015	.	187	Q9NZN1	IRPL1_HUMAN	S	187	ENSP00000368278:T187S;ENSP00000305200:T187S	.	T	+	1	0	IL1RAPL1	29327202	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.250000	0.32850	1.938000	0.56188	0.425000	0.28330	ACA		0.284	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		10	21	0	0	0	0.008291	0	10	21				
FAM47B	170062	broad.mit.edu	37	X	34961569	34961569	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:34961569G>T	ENST00000329357.5	+	1	657	c.621G>T	c.(619-621)ccG>ccT	p.P207P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	207	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGACTCCGGTGTCCAGTC	0.652																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(619-621)CCG>CCT		hypothetical protein LOC170062							33.0	37.0	36.0					X																	34961569		2202	4297	6499	SO:0001819	synonymous_variant	170062							g.chrX:34961569G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.621G>T	X.37:g.34961569G>T							p.P207P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	639	+			207			Pro-rich.		Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.621G>T	CCDS14236.1																																																																																				0.652	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		32	32	1	0	1.30897e-18	0.009535	1.66669e-18	32	32				
MAGEB16	139604	broad.mit.edu	37	X	35820879	35820879	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:35820879C>G	ENST00000399989.1	+	2	845	c.566C>G	c.(565-567)aCc>aGc	p.T189S	MAGEB16_ENST00000399992.1_Missense_Mutation_p.T221S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T189S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T189S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.T189S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	189	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGGGCCTCACCTATGATGGG	0.527																																							uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(565-567)ACC>AGC		melanoma antigen family B, 16							93.0	90.0	91.0					X																	35820879		2177	4276	6453	SO:0001583	missense	139604							g.chrX:35820879C>G		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.566C>G	X.37:g.35820879C>G	ENSP00000382871:p.Thr189Ser						p.T189S	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	845	+			189			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.566C>G	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453086	0.26161	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	3.13	3.13	0.36017	.	0.432875	0.23805	N	0.044392	T	0.09730	0.0239	L	0.49126	1.545	0.25995	N	0.982195	D	0.60160	0.987	P	0.61477	0.889	T	0.08764	-1.0706	10	0.08381	T	0.77	.	9.0295	0.36249	0.0:1.0:0.0:0.0	.	189	A2A368	MAGBG_HUMAN	S	189;221;189;189;189	ENSP00000382870:T189S;ENSP00000382874:T221S;ENSP00000382869:T189S;ENSP00000382871:T189S;ENSP00000382867:T189S	ENSP00000382867:T189S	T	+	2	0	MAGEB16	35730800	0.474000	0.25886	0.997000	0.53966	0.239000	0.25481	0.470000	0.22084	1.864000	0.54056	0.521000	0.50471	ACC		0.527	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			7	16	0	0	0	0.001984	0	7	16				
MID1IP1	58526	broad.mit.edu	37	X	38664362	38664362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:38664362G>T	ENST00000336949.6	+	2	1108	c.163G>T	c.(163-165)Gag>Tag	p.E55*	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Nonsense_Mutation_p.E55*|MID1IP1_ENST00000378474.3_Nonsense_Mutation_p.E55*	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	55					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TGTTGGCGTGGAGGTAGGCGG	0.657																																							uc004dei.3		NA																	0					0						c.(163-165)GAG>TAG		MID1 interacting G12-like protein							45.0	35.0	38.0					X																	38664362		2202	4300	6502	SO:0001587	stop_gained	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664362G>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.163G>T	X.37:g.38664362G>T	ENSP00000338706:p.Glu55*					MID1IP1_uc010ngz.2_Nonsense_Mutation_p.E55*|MID1IP1_uc004dej.3_Nonsense_Mutation_p.E55*	p.E55*	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN			3	587	+			55					D3DWB2	Nonsense_Mutation	SNP	ENST00000336949.6	37	c.163G>T	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	38	7.247122	0.98161	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	3.98	0.46160	.	2.744150	0.02078	U	0.052145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-21.6618	9.3993	0.38422	0.1027:0.0:0.8973:0.0	.	.	.	.	X	55	.	ENSP00000338706:E55X	E	+	1	0	MID1IP1	38549306	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.260000	0.43267	1.047000	0.40274	0.529000	0.55759	GAG		0.657	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			9	7	1	0	7.48243e-07	0.006214	8.39327e-07	9	7				
HUWE1	10075	broad.mit.edu	37	X	53564572	53564572	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:53564572C>G	ENST00000342160.3	-	77	12539	c.12082G>C	c.(12082-12084)Gaa>Caa	p.E4028Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4028Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4028					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGAGTCTTCAAACACATGG	0.527																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12082-12084)GAA>CAA		HECT, UBA and WWE domain containing 1							104.0	74.0	84.0					X																	53564572		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53564572C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12082G>C	X.37:g.53564572C>G	ENSP00000340648:p.Glu4028Gln					HUWE1_uc004dsn.2_Missense_Mutation_p.E2836Q|HUWE1_uc004dsq.1_Missense_Mutation_p.E328Q	p.E4028Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			78	12484	-			4028					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12082G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325557|3.325557	0.60743|0.60743	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.79554|.	-1.28;-1.28|.	5.78|5.78	5.78|5.78	0.91487|0.91487	HECT (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61961|.	0.2389|.	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P;D|.	0.55172|.	0.699;0.949;0.97|.	B;P;D|.	0.64237|.	0.186;0.84;0.923|.	T|.	0.57260|.	-0.7842|.	10|.	0.39692|.	T|.	0.17|.	.|.	15.9981|15.9981	0.80268|0.80268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	850;4028;4012|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	Q|S	4028|3061;850	ENSP00000340648:E4028Q;ENSP00000262854:E4028Q|.	ENSP00000262854:E4028Q|.	E|X	-|-	1|2	0|2	HUWE1|HUWE1	53581297|53581297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.064000|7.064000	0.76721|0.76721	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	GAA|TGA		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	9	0	0	0	0.009096	0	4	9				
ITIH6	347365	broad.mit.edu	37	X	54785244	54785244	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:54785244C>A	ENST00000218436.6	-	8	1292	c.1263G>T	c.(1261-1263)agG>agT	p.R421S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	421	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AAAGGGATACCCTGTGGCCTA	0.597																																							uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1261-1263)AGG>AGT		inter-alpha (globulin) inhibitor H5-like							78.0	60.0	66.0					X																	54785244		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785244C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1263G>T	X.37:g.54785244C>A	ENSP00000218436:p.Arg421Ser						p.R421S	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1293	-			421			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1263G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570145	0.13560	.	.	ENSG00000102313	ENST00000218436	T	0.13538	2.58	3.78	-3.72	0.04411	von Willebrand factor, type A (3);	0.578648	0.17234	U	0.181831	T	0.07548	0.0190	L	0.35487	1.065	0.09310	N	1	B	0.18013	0.025	B	0.28385	0.089	T	0.31641	-0.9936	10	0.27082	T	0.32	.	1.9843	0.03433	0.1234:0.1908:0.2117:0.4741	.	421	Q6UXX5	ITH5L_HUMAN	S	421	ENSP00000218436:R421S	ENSP00000218436:R421S	R	-	3	2	ITIH5L	54801969	0.000000	0.05858	0.014000	0.15608	0.760000	0.43138	-1.253000	0.02877	-1.227000	0.02571	0.597000	0.82753	AGG		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	9	1	0	0.00185496	0.001855	0.00194567	11	9				
ATP7A	538	broad.mit.edu	37	X	77286968	77286968	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:77286968T>C	ENST00000341514.6	+	16	3337	c.3182T>C	c.(3181-3183)gTt>gCt	p.V1061A	ATP7A_ENST00000343533.5_Missense_Mutation_p.V983A|ATP7A_ENST00000350425.4_Missense_Mutation_p.V64A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1061					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAAGTAAAGGTTCTAACTGAA	0.383																																							uc004ecx.3		NA																	0					0						c.(3181-3183)GTT>GCT		ATPase, Cu++ transporting, alpha polypeptide							149.0	144.0	146.0					X																	77286968		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77286968T>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3182T>C	X.37:g.77286968T>C	ENSP00000345728:p.Val1061Ala						p.V1061A	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			16	3342	+			1061			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3182T>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390977	0.25118	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.95447	-3.71;-3.71;-3.71	5.39	5.39	0.77823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.534882	0.20647	N	0.088285	D	0.89406	0.6706	N	0.04705	-0.18	0.26142	N	0.980263	B	0.26635	0.155	B	0.33392	0.163	D	0.83701	0.0182	10	0.72032	D	0.01	-17.3221	10.4186	0.44338	0.148:0.0:0.0:0.8519	.	1061	Q04656	ATP7A_HUMAN	A	983;64;1061	ENSP00000343026:V983A;ENSP00000343678:V64A;ENSP00000345728:V1061A	ENSP00000345728:V1061A	V	+	2	0	ATP7A	77173624	1.000000	0.71417	0.999000	0.59377	0.170000	0.22686	5.097000	0.64542	1.914000	0.55421	0.412000	0.27726	GTT		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		22	66	0	0	0	0.001882	0	22	66				
BRWD3	254065	broad.mit.edu	37	X	79984377	79984377	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:79984377C>A	ENST00000373275.4	-	14	1476	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	420					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTAGTGATCTTGTCTTCTC	0.333																																							uc004edt.2		NA																	0				ovary(4)	4						c.(1258-1260)AAG>AAT		bromodomain and WD repeat domain containing 3							104.0	88.0	93.0					X																	79984377		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79984377C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1260G>T	X.37:g.79984377C>A	ENSP00000362372:p.Lys420Asn					BRWD3_uc004edo.2_Missense_Mutation_p.K16N|BRWD3_uc004edp.2_Missense_Mutation_p.K249N|BRWD3_uc004edq.2_Missense_Mutation_p.K16N|BRWD3_uc010nmj.1_Missense_Mutation_p.K16N|BRWD3_uc004edr.2_Missense_Mutation_p.K90N|BRWD3_uc004eds.2_Missense_Mutation_p.K16N|BRWD3_uc004edu.2_Missense_Mutation_p.K90N|BRWD3_uc004edv.2_Missense_Mutation_p.K16N|BRWD3_uc004edw.2_Missense_Mutation_p.K16N|BRWD3_uc004edx.2_Missense_Mutation_p.K16N|BRWD3_uc004edy.2_Missense_Mutation_p.K16N|BRWD3_uc004edz.2_Missense_Mutation_p.K90N|BRWD3_uc004eea.2_Missense_Mutation_p.K90N|BRWD3_uc004eeb.2_Missense_Mutation_p.K16N	p.K420N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			14	1523	-			420					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1260G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714396	0.48622	.	.	ENSG00000165288	ENST00000373275	T	0.19394	2.15	4.7	-0.428	0.12306	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.264759	0.37857	N	0.001918	T	0.22475	0.0542	M	0.70903	2.155	0.38217	D	0.940635	B	0.32409	0.37	B	0.36885	0.235	T	0.08086	-1.0739	9	.	.	.	-3.6515	9.3845	0.38333	0.0:0.4272:0.0:0.5728	.	420	Q6RI45	BRWD3_HUMAN	N	420	ENSP00000362372:K420N	.	K	-	3	2	BRWD3	79871033	0.563000	0.26594	0.992000	0.48379	0.928000	0.56348	-0.127000	0.10547	-0.037000	0.13646	0.422000	0.28245	AAG		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		21	19	1	0	3.01185e-09	0.003954	3.53133e-09	21	19				
ZNF711	7552	broad.mit.edu	37	X	84526120	84526120	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:84526120G>T	ENST00000373165.3	+	9	1878	c.1572G>T	c.(1570-1572)atG>atT	p.M524I	ZNF711_ENST00000276123.3_Missense_Mutation_p.M524I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M532I|ZNF711_ENST00000360700.4_Missense_Mutation_p.M570I|ZNF711_ENST00000542798.1_Missense_Mutation_p.M366I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	524			M -> T. {ECO:0000269|PubMed:19377476}.		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.M534I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAAACATATGAGAACCCATA	0.393																																							uc004eeo.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(3)|skin(1)	4						c.(1570-1572)ATG>ATT		zinc finger protein 711							51.0	43.0	46.0					X																	84526120		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526120G>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1572G>T	X.37:g.84526120G>T	ENSP00000362260:p.Met524Ile					ZNF711_uc004eep.2_Missense_Mutation_p.M524I|ZNF711_uc004eeq.2_Missense_Mutation_p.M570I|ZNF711_uc011mqy.1_Missense_Mutation_p.M123I	p.M524I	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	1919	+			524		M -> T.	C2H2-type 4.		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1572G>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276565	0.40294	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000063	T	0.22003	0.0530	L	0.54863	1.705	0.58432	D	0.999999	B;B	0.26708	0.157;0.126	B;B	0.29077	0.022;0.098	T	0.02244	-1.1189	10	0.41790	T	0.15	-11.6054	17.9439	0.89034	0.0:0.0:1.0:0.0	.	570;524	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	532;524;524;570;366	ENSP00000378798:M532I;ENSP00000362260:M524I;ENSP00000276123:M524I;ENSP00000353922:M570I;ENSP00000442071:M366I	ENSP00000276123:M524I	M	+	3	0	ZNF711	84412776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.171000	0.68590	0.513000	0.50165	ATG		0.393	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		14	14	1	0	4.3838e-07	0.001855	4.96219e-07	14	14				
TGIF2LX	90316	broad.mit.edu	37	X	89177480	89177480	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:89177480C>A	ENST00000561129.2	+	1	526	c.396C>A	c.(394-396)gcC>gcA	p.A132A	TGIF2LX_ENST00000283891.5_Silent_p.A132A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATGCCCATGCCACCCACCTGC	0.582																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(394-396)GCC>GCA		TGFB-induced factor homeobox 2-like, X-linked							42.0	41.0	41.0					X																	89177480		2203	4297	6500	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177480C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.396C>A	X.37:g.89177480C>A							p.A132A	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	445	+			132					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.396C>A	CCDS14459.1																																																																																				0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		21	15	1	0	2.32416e-17	0.002299	2.94425e-17	21	15				
PCDH19	57526	broad.mit.edu	37	X	99661862	99661862	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:99661862G>T	ENST00000373034.4	-	1	3409	c.1734C>A	c.(1732-1734)ccC>ccA	p.P578P	PCDH19_ENST00000255531.7_Silent_p.P578P|PCDH19_ENST00000420881.2_Silent_p.P578P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	578	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGAGTTGCGGGGTATGTAGA	0.582																																							uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1732-1734)CCC>CCA		protocadherin 19 isoform b							86.0	84.0	84.0					X																	99661862		2098	4182	6280	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661862G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1734C>A	X.37:g.99661862G>T						PCDH19_uc004efw.3_Silent_p.P578P|PCDH19_uc004efx.3_Silent_p.P578P	p.P578P	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3410	-			578			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1734C>A	CCDS55462.1																																																																																				0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		21	20	1	0	5.26018e-13	0.001882	6.47246e-13	21	20				
RNF128	79589	broad.mit.edu	37	X	106033443	106033443	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:106033443C>T	ENST00000255499.2	+	5	1165	c.915C>T	c.(913-915)gaC>gaT	p.D305D	RNF128_ENST00000324342.3_Silent_p.D279D	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	305					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CATGTGTTGACCCATGGCTGT	0.323																																							uc004eml.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(913-915)GAC>GAT		ring finger protein 128 isoform 1							124.0	122.0	123.0					X																	106033443		2203	4300	6503	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106033443C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.915C>T	X.37:g.106033443C>T						RNF128_uc004emk.2_Silent_p.D279D	p.D305D	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			5	1165	+			305			RING-type; atypical.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.915C>T	CCDS14521.1																																																																																				0.323	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		7	64	0	0	0	0.00308	0	7	64				
COL4A6	1288	broad.mit.edu	37	X	107412728	107412728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:107412728G>A	ENST00000372216.4	-	37	3791	c.3691C>T	c.(3691-3693)Cga>Tga	p.R1231*	COL4A6_ENST00000394872.2_Nonsense_Mutation_p.R1231*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.R1206*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.R1230*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.R1206*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1231	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACTCACCTCGATCACCTTTT	0.582									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3691-3693)CGA>TGA		type IV alpha 6 collagen isoform A precursor							97.0	64.0	76.0					X																	107412728		2203	4300	6503	SO:0001587	stop_gained	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107412728G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3691C>T	X.37:g.107412728G>A	ENSP00000361290:p.Arg1231*					COL4A6_uc004env.3_Nonsense_Mutation_p.R1230*|COL4A6_uc011msn.1_Nonsense_Mutation_p.R1206*|COL4A6_uc010npk.2_Nonsense_Mutation_p.R1206*	p.R1231*	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			37	3794	-			1231			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	c.3691C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	40	8.516622	0.98845	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	4.42	1.33	0.21861	.	1.292650	0.05781	N	0.608663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.604	0.51020	0.0:0.0:0.5462:0.4538	.	.	.	.	X	1231;1230;1231;1230;1206;1206	.	ENSP00000334733:R1230X	R	-	1	2	COL4A6	107299384	0.001000	0.12720	0.012000	0.15200	0.077000	0.17291	0.648000	0.24828	0.387000	0.25024	-0.364000	0.07487	CGA		0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			18	16	0	0	0	0.008871	0	18	16				
CHRDL1	91851	broad.mit.edu	37	X	110005980	110005980	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:110005980C>A	ENST00000372045.1	-	3	263	c.132G>T	c.(130-132)tgG>tgT	p.W44C	CHRDL1_ENST00000218054.4_Missense_Mutation_p.W50C|CHRDL1_ENST00000372042.1_Missense_Mutation_p.W50C|CHRDL1_ENST00000482160.1_Missense_Mutation_p.W50C|CHRDL1_ENST00000394797.4_Missense_Mutation_p.W50C|CHRDL1_ENST00000444321.2_Missense_Mutation_p.W50C|CHRDL1_ENST00000434224.1_Missense_Mutation_p.W50C			Q9BU40	CRDL1_HUMAN	chordin-like 1	44	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGTAAGGATGCCATCTCTCAC	0.443																																							uc004eou.3		NA																	0					0						c.(148-150)TGG>TGT		chordin-like 1 isoform 1 precursor							278.0	194.0	223.0					X																	110005980		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:110005980C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.132G>T	X.37:g.110005980C>A	ENSP00000361115:p.Trp44Cys					CHRDL1_uc004eov.2_Missense_Mutation_p.W44C|CHRDL1_uc004eow.2_Missense_Mutation_p.W50C|CHRDL1_uc010nps.2_Missense_Mutation_p.W50C|CHRDL1_uc004eot.2_Missense_Mutation_p.W50C|CHRDL1_uc011mss.1_Missense_Mutation_p.W44C|CHRDL1_uc004eox.3_Missense_Mutation_p.W44C	p.W50C	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			3	499	-			44			VWFC 1.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.150G>T		.	.	.	.	.	.	.	.	.	.	C	18.64	3.667079	0.67814	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.72	4.72	0.59763	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	H	0.96175	3.78	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.997;0.998;0.998;0.998;1.0	D	0.95162	0.8282	9	.	.	.	-9.9437	16.1778	0.81874	0.0:1.0:0.0:0.0	.	50;50;44;29;44;50;50	B4DMP3;E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;.;CRDL1_HUMAN;.;.	C	44;50;50;50;50;50;50	ENSP00000361115:W44C;ENSP00000389627:W50C;ENSP00000218054:W50C;ENSP00000378276:W50C;ENSP00000361112:W50C;ENSP00000418443:W50C;ENSP00000399739:W50C	.	W	-	3	0	CHRDL1	109892636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.273000	0.75805	0.544000	0.68410	TGG		0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		5	40	1	0	4.096e-09	0.001168	4.79795e-09	5	40				
CT47B1	643311	broad.mit.edu	37	X	120009217	120009217	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:120009217G>A	ENST00000371311.3	-	1	562	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	103										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GAAGTTGGCCGcctcgttccc	0.687																																							uc011muc.1		NA																	0					0						c.(307-309)GCG>GTG		cancer/testis antigen family 147, member B1							63.0	70.0	68.0					X																	120009217		692	1590	2282	SO:0001583	missense	643311							g.chrX:120009217G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.308C>T	X.37:g.120009217G>A	ENSP00000360360:p.Ala103Val						p.A103V	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	563	-			103					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.308C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987553	0.35036	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.17	-1.7	0.08159	.	.	.	.	.	T	0.31451	0.0797	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.56612	0.802	T	0.16217	-1.0410	8	0.72032	D	0.01	.	1.8115	0.03091	0.2573:0.0:0.3762:0.3664	.	103	P0C2W7	CT47B_HUMAN	V	103	.	ENSP00000360360:A103V	A	-	2	0	CT47B1	119893245	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.774000	0.04684	-0.613000	0.05694	0.171000	0.16805	GCG		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		4	5	0	0	0	0.000602	0	4	5				
SAGE1	55511	broad.mit.edu	37	X	134991033	134991033	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:134991033T>G	ENST00000370709.3	+	12	1452	c.1452T>G	c.(1450-1452)atT>atG	p.I484M	SAGE1_ENST00000324447.3_Missense_Mutation_p.I484M|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.I484M			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	484						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGCTACCATTACTCACAGTG	0.443																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(1450-1452)ATT>ATG		sarcoma antigen 1							154.0	116.0	129.0					X																	134991033		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134991033T>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1452T>G	X.37:g.134991033T>G	ENSP00000359743:p.Ile484Met					SAGE1_uc010nry.1_Missense_Mutation_p.I453M|SAGE1_uc011mvv.1_Intron	p.I484M	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			13	1619	+	Acute lymphoblastic leukemia(192;0.000127)		484					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1452T>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	9.046	0.990989	0.18966	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.36157	1.27;1.27;1.27	1.2	0.276	0.15663	.	0.090728	0.45867	U	0.000330	T	0.31327	0.0793	N	0.19112	0.55	0.09310	N	1	D	0.53619	0.961	P	0.59889	0.865	T	0.10154	-1.0642	10	0.59425	D	0.04	.	3.4083	0.07350	0.0:0.7023:0.0:0.2977	.	484	Q9NXZ1	SAGE1_HUMAN	M	484	ENSP00000323191:I484M;ENSP00000445959:I484M;ENSP00000359743:I484M	ENSP00000323191:I484M	I	+	3	3	SAGE1	134818699	0.005000	0.15991	0.002000	0.10522	0.004000	0.04260	-0.065000	0.11617	0.033000	0.15463	-0.837000	0.03062	ATT		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		50	20	0	0	0	0.00361	0	50	20				
F9	2158	broad.mit.edu	37	X	138642967	138642967	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:138642967C>A	ENST00000218099.2	+	7	798	c.791C>A	c.(790-792)aCt>aAt	p.T264N	F9_ENST00000394090.2_Missense_Mutation_p.T226N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	264	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGGATTGTAACTGCTGCCCAC	0.358																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3	GRCh37	CM960589	F9	M		c.(790-792)ACT>AAT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						233.0	208.0	216.0					X																	138642967		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138642967C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.791C>A	X.37:g.138642967C>A	ENSP00000218099:p.Thr264Asn					F9_uc004fat.1_Missense_Mutation_p.T226N	p.T264N	NM_000133	NP_000124	P00740	FA9_HUMAN			7	820	+	Acute lymphoblastic leukemia(192;0.000127)		264			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.791C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430212	0.83776	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.98649	-5.05;-5.05	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97823	1.0258	10	0.87932	D	0	.	16.3112	0.82872	0.0:1.0:0.0:0.0	.	226;264	Q5FBE1;P00740	.;FA9_HUMAN	N	264;226	ENSP00000218099:T264N;ENSP00000377650:T226N	ENSP00000218099:T264N	T	+	2	0	F9	138470633	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.295000	0.78780	2.457000	0.83068	0.544000	0.68410	ACT		0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			55	44	1	0	1.19403e-26	0.00361	1.55537e-26	55	44				
SLITRK4	139065	broad.mit.edu	37	X	142717407	142717407	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:142717407G>A	ENST00000381779.4	-	2	1743	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	SLITRK4_ENST00000356928.1_Silent_p.N506N|SLITRK4_ENST00000338017.4_Silent_p.N506N	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	506						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAATTTGTTGTTCCTCA	0.448																																							uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1516-1518)AAC>AAT		slit and trk like 4 protein precursor							117.0	121.0	120.0					X																	142717407		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142717407G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1518C>T	X.37:g.142717407G>A						SLITRK4_uc004fby.2_Silent_p.N506N	p.N506N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1894	-	Acute lymphoblastic leukemia(192;6.56e-05)		506			Extracellular (Potential).|LRR 12.		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.1518C>T	CCDS14679.1																																																																																				0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		26	91	0	0	0	0.004656	0	26	91				
SLITRK4	139065	broad.mit.edu	37	X	142717510	142717510	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:142717510A>G	ENST00000381779.4	-	2	1640	c.1415T>C	c.(1414-1416)aTg>aCg	p.M472T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.M472T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.M472T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	472						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATTTGGCATGGAGTCAAA	0.398																																							uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1414-1416)ATG>ACG		slit and trk like 4 protein precursor							66.0	70.0	69.0					X																	142717510		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717510A>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1415T>C	X.37:g.142717510A>G	ENSP00000371198:p.Met472Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.M472T	p.M472T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1791	-	Acute lymphoblastic leukemia(192;6.56e-05)		472			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1415T>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290242	0.40494	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57907	0.37;0.37;0.37	5.49	5.49	0.81192	.	0.146100	0.64402	D	0.000013	T	0.51635	0.1686	N	0.20530	0.585	0.58432	D	0.999998	P	0.45594	0.862	P	0.53760	0.734	T	0.56366	-0.7991	10	0.59425	D	0.04	-10.7324	13.5553	0.61756	1.0:0.0:0.0:0.0	.	472	Q8IW52	SLIK4_HUMAN	T	472	ENSP00000371198:M472T;ENSP00000349400:M472T;ENSP00000336627:M472T	ENSP00000336627:M472T	M	-	2	0	SLITRK4	142545176	1.000000	0.71417	0.811000	0.32455	0.995000	0.86356	7.469000	0.80959	1.954000	0.56735	0.486000	0.48141	ATG		0.398	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		55	33	0	0	0	0.00361	0	55	33				
AFF2	2334	broad.mit.edu	37	X	147743755	147743755	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:147743755A>G	ENST00000370460.2	+	3	986	c.507A>G	c.(505-507)gtA>gtG	p.V169V	AFF2_ENST00000370457.5_Silent_p.V165V|AFF2_ENST00000370458.1_Silent_p.V165V|AFF2_ENST00000342251.3_Silent_p.V165V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	169					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCACTGTACTGGCAAGCC	0.468																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(505-507)GTA>GTG		fragile X mental retardation 2							121.0	116.0	118.0					X																	147743755		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743755A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.507A>G	X.37:g.147743755A>G						AFF2_uc004fco.2_Silent_p.V165V|AFF2_uc004fcq.2_Silent_p.V165V|AFF2_uc004fcr.2_Silent_p.V165V|AFF2_uc011mxb.1_Silent_p.V169V|AFF2_uc004fcs.2_Silent_p.V165V	p.V169V	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	986	+	Acute lymphoblastic leukemia(192;6.56e-05)		169					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.507A>G	CCDS14684.1																																																																																				0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		55	92	0	0	0	0.00361	0	55	92				
AFF2	2334	broad.mit.edu	37	X	147891398	147891398	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:147891398A>G	ENST00000370460.2	+	4	1520		c.e4-1		AFF2_ENST00000286437.5_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000370458.1_Splice_Site|AFF2_ENST00000342251.3_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGTTTCAGGTAAGCCTT	0.343																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.e4-2		fragile X mental retardation 2							210.0	183.0	192.0					X																	147891398		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147891398A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1042-1A>G	X.37:g.147891398A>G						AFF2_uc004fco.2_Splice_Site_p.V344_splice|AFF2_uc004fcq.2_Splice_Site_p.V344_splice|AFF2_uc004fcr.2_Splice_Site_p.V344_splice|AFF2_uc011mxb.1_Splice_Site_p.V348_splice|AFF2_uc004fcs.2_Splice_Site_p.V344_splice|AFF2_uc011mxc.1_Splice_Site_p.V18_splice	p.V348_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN			4	1521	+	Acute lymphoblastic leukemia(192;6.56e-05)							A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.1042_splice	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969293	0.53614	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2371	0.73438	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AFF2	147699090	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	6.513000	0.73742	1.982000	0.57802	0.486000	0.48141	.		0.343	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Intron	12	65	0	0	0	0.001855	0	12	65				
AFF2	2334	broad.mit.edu	37	X	148069036	148069036	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:148069036C>T	ENST00000370460.2	+	20	4242	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	AFF2_ENST00000286437.5_Missense_Mutation_p.R896W|AFF2_ENST00000370457.5_Missense_Mutation_p.R1220W|AFF2_ENST00000342251.3_Missense_Mutation_p.R1222W	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGTGTTACGGGGCTATGA	0.488																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(3763-3765)CGG>TGG		fragile X mental retardation 2							202.0	157.0	172.0					X																	148069036		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069036C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3763C>T	X.37:g.148069036C>T	ENSP00000359489:p.Arg1255Trp					AFF2_uc004fcq.2_Missense_Mutation_p.R1245W|AFF2_uc004fcr.2_Missense_Mutation_p.R1216W|AFF2_uc011mxb.1_Missense_Mutation_p.R1220W|AFF2_uc004fcs.2_Missense_Mutation_p.R1220W|AFF2_uc011mxc.1_Missense_Mutation_p.R896W	p.R1255W	NM_002025	NP_002016	P51816	AFF2_HUMAN			20	4242	+	Acute lymphoblastic leukemia(192;6.56e-05)		1255					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3763C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052890	0.75960	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.74	3.74	0.42951	.	0.146690	0.43579	D	0.000557	T	0.76212	0.3956	M	0.72894	2.215	0.47737	D	0.9995	D;D;D;D;D;D	0.89917	0.996;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.985;0.996;0.994;0.987;0.987;0.993	T	0.76179	-0.3054	10	0.40728	T	0.16	.	13.6212	0.62138	0.3185:0.6815:0.0:0.0	.	896;1220;1220;1216;1245;1255	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	W	1255;1220;1222;896	ENSP00000359489:R1255W;ENSP00000359486:R1220W;ENSP00000345459:R1222W;ENSP00000286437:R896W	ENSP00000286437:R896W	R	+	1	2	AFF2	147876742	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	1.891000	0.39738	1.102000	0.41551	0.600000	0.82982	CGG		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		34	70	0	0	0	0.002445	0	34	70				
ATP2B3	492	broad.mit.edu	37	X	152818579	152818579	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:152818579C>T	ENST00000349466.2	+	12	2236	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	ATP2B3_ENST00000359149.3_Missense_Mutation_p.P637L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P637L|ATP2B3_ENST00000370186.1_Missense_Mutation_p.P623L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P623L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P623L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	637					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCATCGAGCCGATGGCTTGC	0.622																																							uc004fht.1		NA																	0				pancreas(1)	1						c.(1909-1911)CCG>CTG		plasma membrane calcium ATPase 3 isoform 3b							75.0	59.0	64.0					X																	152818579		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818579C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1910C>T	X.37:g.152818579C>T	ENSP00000343886:p.Pro637Leu					ATP2B3_uc004fhs.1_Missense_Mutation_p.P637L	p.P637L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2036	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		637			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1910C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155292	0.94686	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.44	5.44	0.79542	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	N	0.21194	0.64	0.80722	D	1	P;P	0.47841	0.901;0.879	B;B	0.37731	0.257;0.244	D	0.92639	0.6123	10	0.87932	D	0	-32.2565	16.9226	0.86167	0.0:1.0:0.0:0.0	.	637;637	Q16720;Q16720-2	AT2B3_HUMAN;.	L	623;637;623;637;637;623	ENSP00000359205:P623L;ENSP00000343886:P637L;ENSP00000377425:P623L;ENSP00000352062:P637L;ENSP00000263519:P637L;ENSP00000359200:P623L	ENSP00000263519:P637L	P	+	2	0	ATP2B3	152471773	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.818000	0.86416	2.257000	0.74773	0.600000	0.82982	CCG		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		15	33	0	0	0	0.003163	0	15	33				
L1CAM	3897	broad.mit.edu	37	X	153134138	153134138	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:153134138A>G	ENST00000370060.1	-	13	1613	c.1424T>C	c.(1423-1425)tTc>tCc	p.F475S	L1CAM_ENST00000370057.3_Missense_Mutation_p.F475S|L1CAM_ENST00000370055.1_Missense_Mutation_p.F470S|L1CAM_ENST00000361981.3_Missense_Mutation_p.F470S|L1CAM_ENST00000361699.4_Missense_Mutation_p.F475S|L1CAM_ENST00000543994.1_Missense_Mutation_p.F477S|L1CAM_ENST00000538883.1_Missense_Mutation_p.F477S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	475	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATAGGGGAAGAAGCGTTC	0.612																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(1423-1425)TTC>TCC		L1 cell adhesion molecule isoform 1 precursor							143.0	104.0	117.0					X																	153134138		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134138A>G	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1424T>C	X.37:g.153134138A>G	ENSP00000359077:p.Phe475Ser					L1CAM_uc004fjc.2_Missense_Mutation_p.F475S|L1CAM_uc010nuo.2_Missense_Mutation_p.F470S|L1CAM_uc004fjd.1_Missense_Mutation_p.F289S	p.F475S	NM_000425	NP_000416	P32004	L1CAM_HUMAN			12	1532	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		475			Extracellular (Potential).|Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1424T>C	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342596	0.41498	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182364	0.37715	N	0.001979	T	0.34106	0.0886	N	0.02842	-0.48	0.33673	D	0.611177	B;B;B	0.17465	0.018;0.009;0.022	B;B;B	0.21360	0.02;0.02;0.034	T	0.44065	-0.9352	10	0.17369	T	0.5	.	8.515	0.33239	0.9114:0.0:0.0886:0.0	.	470;475;475	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	475;477;475;477;470;470;475	ENSP00000359077:F475S;ENSP00000438430:F477S;ENSP00000359074:F475S;ENSP00000439645:F477S;ENSP00000354712:F470S;ENSP00000359072:F470S;ENSP00000355380:F475S	ENSP00000355380:F475S	F	-	2	0	L1CAM	152787332	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.574000	0.46016	1.898000	0.54952	0.430000	0.28490	TTC		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		4	49	0	0	0	0.009096	0	4	49				
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																							uc004fnx.3		NA																	1	Substitution - Missense(1)		kidney(1)		NA						c.(631-633)CTC>GTC		WAS protein family homolog 1																																						0							g.chrX:155254735C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254735C>G							p.L211V	NM_182905	NP_878908					8	1085	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.631C>G		.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		2	4	0	0	0	0.004672	0	2	4				
GABRD	2563	broad.mit.edu	37	1	1961597	1961598	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:1961597_1961598insG	ENST00000378585.4	+	9	1318_1319	c.1235_1236insG	c.(1234-1239)caggggfs	p.QG412fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	412					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGGAGGCCAGGGGGGCATCC	0.678																																							uc001aip.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1234-1236)CAGfs		gamma-aminobutyric acid (GABA) A receptor, delta																																				SO:0001589	frameshift_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961597_1961598insG	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1241dupG	1.37:g.1961603_1961603dupG	ENSP00000367848:p.Gln412fs						p.Q412fs	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1330_1331	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	412			Cytoplasmic (Probable).		Q8N4N9	Frame_Shift_Ins	INS	ENST00000378585.4	37	c.1235_1236insG	CCDS36.1																																																																																				0.678	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		11	81	NA	NA	NA	NA	NA	11	81	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45266760	45266761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:45266760_45266761insT	ENST00000372201.4	+	3	610_611	c.371_372insT	c.(370-375)cgttttfs	p.RF124fs	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CACATCGTGCGTTTTTCGCACC	0.545																																							uc001cmn.2		NA																	0					0						c.(370-372)CGTfs		polo-like kinase 3																																				SO:0001589	frameshift_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45266760_45266761insT	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.376dupT	1.37:g.45266765_45266765dupT	ENSP00000361275:p.Arg124fs					PLK3_uc001cmo.2_RNA	p.R124fs	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			3	471_472	+	Acute lymphoblastic leukemia(166;0.155)		124			Protein kinase.		Q15767|Q5JR99|Q96CV1	Frame_Shift_Ins	INS	ENST00000372201.4	37	c.371_372insT	CCDS515.1																																																																																				0.545	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		7	49	NA	NA	NA	NA	NA	7	49	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57209836	57209836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:57209836delG	ENST00000343433.6	-	10	1571	c.1491delC	c.(1489-1491)tccfs	p.S497fs	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	497										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCTCTTTCCTGGAGTACTCGA	0.418																																							uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(1489-1491)TCCfs		hypothetical protein LOC199920							170.0	165.0	167.0					1																	57209836		2203	4300	6503	SO:0001589	frameshift_variant	199920							g.chr1:57209836delG	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1491delC	1.37:g.57209836delG	ENSP00000345972:p.Ser497fs					C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	p.S497fs	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			10	1897	-			497					Q63HM3|Q6ZUY6	Frame_Shift_Del	DEL	ENST00000343433.6	37	c.1491delC	CCDS30729.1																																																																																				0.418	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		25	100	NA	NA	NA	NA	NA	25	100	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-429)tattttfs	p.YF142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411																																							uc001dhh.2		NA																	0		p.Y142H(1)		ovary(3)|skin(2)	5						c.(424-426)TATfs		sialyltransferase 7C isoform 1																																				SO:0001589	frameshift_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877904_76877905insT		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.431dupT	1.37:g.76877910_76877910dupT	ENSP00000329214:p.Tyr142fs					ST6GALNAC3_uc001dhg.3_Frame_Shift_Ins_p.Y142fs|ST6GALNAC3_uc010orh.1_Frame_Shift_Ins_p.Y77fs	p.Y142fs	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	588_589	+			142			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Frame_Shift_Ins	INS	ENST00000328299.3	37	c.425_426insT	CCDS672.1																																																																																				0.411	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		19	76	NA	NA	NA	NA	NA	19	76	---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109338865	109338866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:109338865_109338866insT	ENST00000370008.3	+	14	1170_1171	c.1120_1121insT	c.(1120-1122)cttfs	p.L374fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	374					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGACCTGGCACTTGGAACTGAT	0.351																																							uc001dvy.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1120-1122)CTTfs		syntaxin binding protein 3																																				SO:0001589	frameshift_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109338865_109338866insT	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1122dupT	1.37:g.109338867_109338867dupT	ENSP00000359025:p.Leu374fs					STXBP3_uc001dvz.2_RNA	p.L374fs	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	14	1195_1196	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	374					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Ins	INS	ENST00000370008.3	37	c.1120_1121insT	CCDS790.1																																																																																				0.351	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		18	46	NA	NA	NA	NA	NA	18	46	---	---	---	---
CIART	148523	broad.mit.edu	37	1	150255794	150255794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150255794delG	ENST00000290363.5	+	1	566	c.117delG	c.(115-117)aagfs	p.K39fs	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Frame_Shift_Del_p.K39fs	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		39					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGGACAAGGGGGCCCATG	0.592																																							uc001euh.2		NA																	0					0						c.(115-117)AAGfs		hypothetical protein LOC148523							110.0	114.0	112.0					1																	150255794		2203	4300	6503	SO:0001589	frameshift_variant	148523							g.chr1:150255794delG																												ENST00000290363.5:c.117delG	1.37:g.150255794delG	ENSP00000290363:p.Lys39fs					C1orf51_uc001eui.2_Intron|C1orf51_uc001euj.2_Frame_Shift_Del_p.K39fs	p.K39fs	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	253	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		39					B2RD43|D3DV01|Q8N795|Q96MG6	Frame_Shift_Del	DEL	ENST00000290363.5	37	c.117delG	CCDS949.1																																																																																				0.592	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			35	207	NA	NA	NA	NA	NA	35	207	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000478564.1_5'UTR|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																							uc001exv.1		NA																	0				ovary(1)	1						c.(55-57)CCAfs		regulatory factor X, 5																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs					RFX5_uc001exw.1_Frame_Shift_Ins_p.P19fs|RFX5_uc009wmr.1_Frame_Shift_Ins_p.P19fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.P19fs	p.P19fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	270_271	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		8	198	NA	NA	NA	NA	NA	8	198	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157803024	157803025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:157803024_157803025insA	ENST00000368174.4	-	5	1092_1093	c.996_997insT	c.(994-999)tttcacfs	p.H333fs	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	333	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGCAGTCGTGAAACCCCCAAA	0.55																																							uc001frk.3		NA																	0				ovary(1)	1						c.(994-999)TTTCACfs		CD5 molecule-like precursor																																				SO:0001589	frameshift_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803024_157803025insA	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.997dupT	1.37:g.157803027_157803027dupA	ENSP00000357156:p.His333fs						p.F332fs	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1139_1140	-	all_hematologic(112;0.0378)		332_333			SRCR 3.		A8K7M5|Q6UX63	Frame_Shift_Ins	INS	ENST00000368174.4	37	c.996_997insT	CCDS1171.1																																																																																				0.550	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		24	150	NA	NA	NA	NA	NA	24	150	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179399628	179399629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:179399628_179399629insT	ENST00000367618.3	+	14	1761_1762	c.1374_1375insT	c.(1375-1377)tggfs	p.W459fs	AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.W459fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	459										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGACACAAAAATGGAGAAACTT	0.322																																							uc001gmo.2		NA																	0					0						c.(1372-1377)AAATGGfs		hypothetical protein LOC126859 isoform 1																																				SO:0001589	frameshift_variant	126859							g.chr1:179399628_179399629insT	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1375dupT	1.37:g.179399629_179399629dupT	ENSP00000356590:p.Trp459fs					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Frame_Shift_Ins_p.K246fs|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Frame_Shift_Ins_p.K458fs	p.K458fs	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			14	1501_1502	+			458_459			Potential.		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Ins	INS	ENST00000367618.3	37	c.1374_1375insT	CCDS30948.1																																																																																				0.322	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		18	75	NA	NA	NA	NA	NA	18	75	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198725188	198725189	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:198725188_198725189insC	ENST00000367376.2	+	33	3964_3965	c.3793_3794insC	c.(3793-3795)gccfs	p.A1265fs	PTPRC_ENST00000352140.3_Frame_Shift_Ins_p.A1217fs|PTPRC_ENST00000594404.1_Frame_Shift_Ins_p.A1104fs|PTPRC_ENST00000348564.6_Frame_Shift_Ins_p.A1106fs|PTPRC_ENST00000442510.2_Frame_Shift_Ins_p.A1267fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1265					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1265T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCCACTTGGTGCCCCAGAAAAG	0.436																																							uc001gur.1		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3793-3795)GCCfs		protein tyrosine phosphatase, receptor type, C																																				SO:0001589	frameshift_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198725188_198725189insC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3797dupC	1.37:g.198725192_198725192dupC	ENSP00000356346:p.Ala1265fs					PTPRC_uc001gus.1_Frame_Shift_Ins_p.A1217fs|PTPRC_uc001gut.1_Frame_Shift_Ins_p.A1104fs	p.A1265fs	NM_002838	NP_002829	P08575	PTPRC_HUMAN			33	3973_3974	+			1265			Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Frame_Shift_Ins	INS	ENST00000367376.2	37	c.3793_3794insC																																																																																					0.436	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				31	152	NA	NA	NA	NA	NA	31	152	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235976278	235976279	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:235976278_235976279insT	ENST00000389794.3	-	4	449_450	c.275_276insA	c.(274-276)aagfs	p.K92fs	LYST_ENST00000536965.1_Frame_Shift_Ins_p.K92fs|LYST_ENST00000389793.2_Frame_Shift_Ins_p.K92fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	92					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACCTGTTGCCTTTTCTTCTTG	0.376																																							uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(274-276)AAGfs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235976278_235976279insT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.276dupA	1.37:g.235976282_235976282dupT	ENSP00000374444:p.Lys92fs					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Frame_Shift_Ins_p.K92fs	p.K92fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		4	450_451	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	92					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	c.275_276insA	CCDS31062.1																																																																																				0.376	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	59	NA	NA	NA	NA	NA	7	59	---	---	---	---
CDC123	8872	broad.mit.edu	37	10	12291634	12291635	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:12291634_12291635insA	ENST00000281141.4	+	12	1181_1182	c.901_902insA	c.(901-903)tatfs	p.Y301fs	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Frame_Shift_Ins_p.Y260fs|RP11-186N15.3_ENST00000421657.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	301					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCCCAGCCCCTATTTGAGTTAC	0.436																																							uc001ill.2		NA																	0				central_nervous_system(1)	1						c.(901-903)TATfs		cell division cycle 123																																				SO:0001589	frameshift_variant	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12291634_12291635insA	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.902dupA	10.37:g.12291635_12291635dupA	ENSP00000281141:p.Tyr301fs					CDC123_uc001ilm.2_Frame_Shift_Ins_p.Y313fs	p.Y301fs	NM_006023	NP_006014	O75794	CD123_HUMAN			12	1185_1186	+			301					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Frame_Shift_Ins	INS	ENST00000281141.4	37	c.901_902insA	CCDS7090.1																																																																																				0.436	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		30	146	NA	NA	NA	NA	NA	30	146	---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15828568	15828569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:15828568_15828569insA	ENST00000277632.3	-	13	1327_1328	c.1107_1108insT	c.(1105-1110)tttcctfs	p.P370fs	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Frame_Shift_Ins_p.P75fs	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	370					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ACCTGATCAGGAAAAAATTCTT	0.332																																					Pancreas(159;946 1953 2111 4475 22008)	Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1		NA																	0				ovary(1)	1						c.(1105-1110)TTTCCTfs		chromosome 10 open reading frame 97																																				SO:0001589	frameshift_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15828568_15828569insA	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.1108dupT	10.37:g.15828574_15828574dupA	ENSP00000277632:p.Pro370fs					FAM188A_uc001ioe.1_Frame_Shift_Ins_p.F196fs	p.F369fs	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			13	1328_1329	-			369_370					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Frame_Shift_Ins	INS	ENST00000277632.3	37	c.1107_1108insT	CCDS7110.1																																																																																				0.332	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		7	175	NA	NA	NA	NA	NA	7	175	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17110651	17110652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:17110651_17110652insA	ENST00000377833.4	-	20	2808_2809	c.2743_2744insT	c.(2743-2745)tctfs	p.S915fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	915	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTTTCAGTAGAAGAACTTTTC	0.361																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2743-2745)TCTfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110651_17110652insA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2744dupT	10.37:g.17110653_17110653dupA	ENSP00000367064:p.Ser915fs						p.S915fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			20	2795_2796	-			915			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.2743_2744insT	CCDS7113.1																																																																																				0.361	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	212	NA	NA	NA	NA	NA	22	212	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21804201	21804202	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:21804201_21804202insA	ENST00000449193.2	-	4	4802_4803	c.2550_2551insT	c.(2548-2553)tttcctfs	p.P851fs	SKIDA1_ENST00000444772.3_Frame_Shift_Ins_p.P772fs	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	770						nucleus (GO:0005634)											GGTGGACAAGGAAAATTTGCCA	0.436																																							uc009xkd.2		NA																	0				ovary(1)	1						c.(2548-2553)TTTCCTfs		hypothetical protein LOC387640																																				SO:0001589	frameshift_variant	387640					nucleus	nucleotide binding	g.chr10:21804201_21804202insA	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2551dupT	10.37:g.21804205_21804205dupA	ENSP00000410041:p.Pro851fs					uc001iqp.1_Intron	p.F850fs	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4803_4804	-			769_770					B1ANA5|Q6ZMX4|Q8N3C3	Frame_Shift_Ins	INS	ENST00000449193.2	37	c.2550_2551insT	CCDS44363.1																																																																																				0.436	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		9	66	NA	NA	NA	NA	NA	9	66	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91476281	91476282	+	Frame_Shift_Ins	INS	-	-	T	rs146702249		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:91476281_91476282insT	ENST00000371728.3	+	9	1094_1095	c.1029_1030insT	c.(1030-1032)ttgfs	p.L344fs	KIF20B_ENST00000394289.2_Frame_Shift_Ins_p.L344fs|KIF20B_ENST00000260753.4_Frame_Shift_Ins_p.L344fs|KIF20B_ENST00000416354.1_Frame_Shift_Ins_p.L344fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	344	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCTTCACAAAATTGAATAATGC	0.312																																							uc001kgs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1027-1032)AAATTGfs		M-phase phosphoprotein 1																																				SO:0001589	frameshift_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91476281_91476282insT	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1031dupT	10.37:g.91476283_91476283dupT	ENSP00000360793:p.Leu344fs					KIF20B_uc001kgr.1_Frame_Shift_Ins_p.K343fs	p.K343fs	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			9	1101_1102	+			343_344			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Ins	INS	ENST00000371728.3	37	c.1029_1030insT																																																																																					0.312	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		9	23	NA	NA	NA	NA	NA	9	23	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-174)gaggggfs	p.EG57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401																																							uc001kqd.3		NA																	0				breast(1)	1						c.(169-171)GAGfs		cutC copper transporter homolog																																				SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499503_101499504insG	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.176dupG	10.37:g.101499509_101499509dupG	ENSP00000359507:p.Glu57fs					CUTC_uc010qpk.1_Frame_Shift_Ins_p.E57fs|CUTC_uc001kqe.3_RNA	p.E57fs	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	318_319	+		Colorectal(252;0.234)	57					Q5TCZ8|Q9Y321	Frame_Shift_Ins	INS	ENST00000370476.5	37	c.170_171insG	CCDS7483.1																																																																																				0.401	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		12	178	NA	NA	NA	NA	NA	12	178	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129913973	129913974	+	Frame_Shift_Ins	INS	-	-	T	rs535455018		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:129913973_129913974insT	ENST00000368654.3	-	7	1073_1074	c.698_699insA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGGAGATTCATTTTTTTTGCT	0.347																																							uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(697-699)AATfs		antigen identified by monoclonal antibody Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913973_129913974insT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.699dupA	10.37:g.129913981_129913981dupT	ENSP00000357643:p.Asn233fs					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.N233fs	NM_002417	NP_002408	P46013	KI67_HUMAN			7	893_894	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Ins	INS	ENST00000368654.3	37	c.698_699insA	CCDS7659.1																																																																																				0.347	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	57	NA	NA	NA	NA	NA	10	57	---	---	---	---
LMNTD2	256329	broad.mit.edu	37	11	556971	556972	+	Frame_Shift_Ins	INS	-	-	C	rs201984771		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:556971_556972insC	ENST00000329451.3	-	8	901_902	c.839_840insG	c.(838-840)ggcfs	p.G280fs	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		280										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGAGTCAGCGCCCCCTGAGCT	0.678																																							uc001lpx.2		NA																	0				pancreas(1)	1						c.(838-840)GGCfs		hypothetical protein LOC256329																																				SO:0001589	frameshift_variant	256329							g.chr11:556971_556972insC																												ENST00000329451.3:c.840dupG	11.37:g.556976_556976dupC	ENSP00000331167:p.Gly280fs					uc001lpy.2_5'Flank|uc001lpz.2_5'Flank	p.G280fs	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	902_903	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	280						Frame_Shift_Ins	INS	ENST00000329451.3	37	c.839_840insG	CCDS7701.1																																																																																				0.678	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			7	16	NA	NA	NA	NA	NA	7	16	---	---	---	---
SLC25A22	79751	broad.mit.edu	37	11	799980	799981	+	5'Flank	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:799980_799981insC	ENST00000531214.1	-	0	0				PIDD_ENST00000411829.2_Frame_Shift_Ins_p.A753fs|PIDD_ENST00000347755.5_Frame_Shift_Ins_p.A770fs	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGAGGCCAGCCCCCCGCCGT	0.624																																					Colon(93;848 1468 3270 23355 49636)		uc001lro.1		NA																	0					0						c.(2308-2310)GCTfs		leucine rich repeat and death domain containing																																				SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799980_799981insC	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799986_799986dupC	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Frame_Shift_Ins_p.A753fs|LRDD_uc001lrl.1_Frame_Shift_Ins_p.A613fs|LRDD_uc001lrm.1_Frame_Shift_Ins_p.A457fs|LRDD_uc001lrn.1_Frame_Shift_Ins_p.A613fs|LRDD_uc001lrp.1_Frame_Shift_Ins_p.G453fs	p.A770fs	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	2450_2451	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	770					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Frame_Shift_Ins	INS	ENST00000531214.1	37	c.2308_2309insG	CCDS7715.1																																																																																				0.624	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			9	41	NA	NA	NA	NA	NA	9	41	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10506451	10506452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:10506451_10506452insG	ENST00000396554.3	+	5	1042_1043	c.701_702insG	c.(700-705)caggggfs	p.QG234fs	AMPD3_ENST00000444303.2_Frame_Shift_Ins_p.QG66fs	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	225					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCACATGCAGGGGGGCATCC	0.569																																							uc001mio.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(673-675)CAGfs		adenosine monophosphate deaminase 3 isoform 1B																																				SO:0001589	frameshift_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10506451_10506452insG	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.707dupG	11.37:g.10506457_10506457dupG	ENSP00000379802:p.Gln234fs					AMPD3_uc010rbz.1_Frame_Shift_Ins_p.Q66fs|AMPD3_uc001min.1_Frame_Shift_Ins_p.Q234fs|AMPD3_uc009yfw.1_Splice_Site|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.Q225fs|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Frame_Shift_Ins_p.Q232fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.Q225fs	p.Q225fs	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	5	1009_1010	+			225					A0AUX0|B7Z2S2|B7Z763|B7Z877	Frame_Shift_Ins	INS	ENST00000396554.3	37	c.674_675insG	CCDS7802.1																																																																																				0.569	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		16	90	NA	NA	NA	NA	NA	16	90	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CTCCTA	CTCCTA	-	-	CTCCTA	CTCCTA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																							uc001mkg.1		NA																	2	Deletion - In frame(2)		upper_aerodigestive_tract(1)|skin(1)	skin(1)	1						c.(1405-1413)CCTCCTACA>CCA		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PT470del	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			470_471					Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		5	8	NA	NA	NA	NA	NA	5	8	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17156656	17156657	+	Splice_Site	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17156656_17156657insC	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTAAACACATACCCCTAGTTGA	0.347																																							uc001mmq.3		NA																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.e9+1		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156656_17156657insC	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1897+1->G	11.37:g.17156660_17156660dupC						PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Splice_Site_p.G253_splice|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Splice_Site_p.G633_splice	p.G633_splice	NM_002645	NP_002636	O00443	P3C2A_HUMAN			9	1963	-								B0LPH2|B4E2G4|Q14CQ9	Splice_Site	INS	ENST00000265970.7	37	c.1897_splice	CCDS7824.1																																																																																				0.347	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	Intron	12	183	NA	NA	NA	NA	NA	12	183	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43419030	43419031	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:43419030_43419031insAT	ENST00000039989.4	+	7	921_922	c.907_908insAT	c.(907-909)aatfs	p.N303fs	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Frame_Shift_Ins_p.N303fs|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	303					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CACTTTGGGGAATATATATGCA	0.406																																							uc001mxi.2		NA																	0				ovary(5)	5						c.(907-909)AATfs		tetratricopeptide repeat domain 17																																				SO:0001589	frameshift_variant	55761						binding	g.chr11:43419030_43419031insAT	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.914_915dupAT	11.37:g.43419037_43419038dupAT	ENSP00000039989:p.Asn303fs					TTC17_uc001mxh.2_Frame_Shift_Ins_p.N303fs|TTC17_uc010rfj.1_Frame_Shift_Ins_p.N246fs|TTC17_uc001mxj.2_Frame_Shift_Ins_p.N73fs	p.N303fs	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			7	921_922	+			303			TPR 1.		G3XAB3|Q8NEC0	Frame_Shift_Ins	INS	ENST00000039989.4	37	c.907_908insAT	CCDS31466.1																																																																																				0.406	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		52	261	NA	NA	NA	NA	NA	52	261	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48134531	48134532	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:48134531_48134532delCA	ENST00000418331.2	+	3	700_701	c.348_349delCA	c.(346-351)agcactfs	p.T117fs	PTPRJ_ENST00000440289.2_Frame_Shift_Del_p.T117fs|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	117					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTCCCAGTAGCACTGGTAAGCA	0.401																																							uc001ngp.3		NA																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(346-351)AGCACTfs		protein tyrosine phosphatase, receptor type, J																																				SO:0001589	frameshift_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48134531_48134532delCA	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.348_349delCA	11.37:g.48134531_48134532delCA	ENSP00000400010:p.Thr117fs					PTPRJ_uc001ngo.3_Frame_Shift_Del_p.S116fs	p.S116fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			3	703_704	+			116_117			Extracellular (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Frame_Shift_Del	DEL	ENST00000418331.2	37	c.348_349delCA	CCDS7945.1																																																																																				0.401	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			7	86	NA	NA	NA	NA	NA	7	86	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752|rs368036675|rs78513473	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416																																							uc010rie.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(61-66)GTGAAAfs		olfactory receptor, family 4, subfamily A,																																				SO:0001589	frameshift_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110739_55110740insA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.70dupA	11.37:g.55110746_55110746dupA	ENSP00000325128:p.Lys22fs						p.V21fs	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	63_64	+			21_22			Extracellular (Potential).		Q6IFL3	Frame_Shift_Ins	INS	ENST00000314721.2	37	c.63_64insA	CCDS31499.1																																																																																				0.416	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		13	58	NA	NA	NA	NA	NA	13	58	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798786	55798786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55798786delA	ENST00000313555.1	+	1	892	c.892delA	c.(892-894)aaafs	p.K298fs		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAAGGATGTGAAAAATGCTCT	0.313																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(892-894)AAAfs		olfactory receptor, family 5, subfamily AS,							46.0	51.0	50.0					11																	55798786		2201	4296	6497	SO:0001589	frameshift_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798786delA	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.892delA	11.37:g.55798786delA	ENSP00000324111:p.Lys298fs						p.K298fs	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	892	+	Esophageal squamous(21;0.00693)		298			Cytoplasmic (Potential).		Q6IFB8	Frame_Shift_Del	DEL	ENST00000313555.1	37	c.892delA	CCDS31516.1																																																																																				0.313	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		8	47	NA	NA	NA	NA	NA	8	47	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979595	58979599	+	Frame_Shift_Del	DEL	CACGG	CACGG	-	rs372290102|rs551823490|rs186806583	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CACGG	CACGG	-	-	CACGG	CACGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58979595_58979599delCACGG	ENST00000361050.3	-	1	825_829	c.740_744delCCGTG	c.(739-744)accgtgfs	p.TV247fs	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	247	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATTTGAAGTTCACGGTGTTTTGAAA	0.532																																							uc001nnu.3		NA																	0				ovary(1)|skin(1)	2						c.(739-744)ACCGTGfs		macrophage expressed gene 1 precursor																																				SO:0001589	frameshift_variant	219972					integral to membrane		g.chr11:58979595_58979599delCACGG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.740_744delCCGTG	11.37:g.58979595_58979599delCACGG	ENSP00000354335:p.Thr247fs						p.T247fs	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	896_900	-		all_epithelial(135;0.125)	247_248			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Frame_Shift_Del	DEL	ENST00000361050.3	37	c.740_744delCCGTG	CCDS41650.1																																																																																				0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		9	39	NA	NA	NA	NA	NA	9	39	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73829363	73829364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:73829363_73829364insT	ENST00000334126.7	-	9	1655_1656	c.1429_1430insA	c.(1429-1431)atafs	p.I477fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.I477fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGACTGGCTTATTTTTTTAGAA	0.431																																							uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1429-1431)ATAfs		C2 calcium-dependent domain containing 3																																				SO:0001589	frameshift_variant	26005					centrosome		g.chr11:73829363_73829364insT	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1430dupA	11.37:g.73829370_73829370dupT	ENSP00000334379:p.Ile477fs					C2CD3_uc001ouv.2_Frame_Shift_Ins_p.I477fs	p.I477fs	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			9	1656_1657	-	Breast(11;4.16e-06)		477					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Ins	INS	ENST00000334126.7	37	c.1429_1430insA																																																																																					0.431	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		17	97	NA	NA	NA	NA	NA	17	97	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74414386	74414387	+	Frame_Shift_Ins	INS	-	-	G	rs189918462|rs144140395	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:74414386_74414387insG	ENST00000376332.3	-	8	1405_1406	c.909_910insC	c.(907-912)cccgagfs	p.E304fs	CHRDL2_ENST00000263671.5_Frame_Shift_Ins_p.E304fs|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	304	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCCACTTTCTCGGGGTGACGGC	0.649																																							uc001ovi.2		NA																	0					0						c.(907-912)CCCGAGfs		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;																																				SO:0001589	frameshift_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74414386_74414387insG	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.910dupC	11.37:g.74414390_74414390dupG	ENSP00000365510:p.Glu304fs					CHRDL2_uc001ovg.2_Frame_Shift_Ins_p.P187fs|CHRDL2_uc001ovh.2_Frame_Shift_Ins_p.P303fs|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron	p.P303fs			Q6WN34	CRDL2_HUMAN			8	1162_1163	-	Hepatocellular(1;0.098)		303_304			VWFC 3.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Ins	INS	ENST00000376332.3	37	c.909_910insC																																																																																					0.649	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			15	62	NA	NA	NA	NA	NA	15	62	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104874010_104874011insT	ENST00000260315.3	-	4	532_533	c.533_534insA	c.(532-534)aatfs	p.N178fs	CASP5_ENST00000393141.2_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.N120fs|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000393139.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401																																							uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(532-534)AATfs		caspase 5 isoform a precursor																																				SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104874010_104874011insT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.534dupA	11.37:g.104874018_104874018dupT	ENSP00000260315:p.Asn178fs					CASP5_uc010ruz.1_Frame_Shift_Ins_p.N191fs|CASP5_uc010rvb.1_Frame_Shift_Ins_p.N120fs|CASP5_uc010rvc.1_Frame_Shift_Ins_p.N36fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.N178fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	4	565_566	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	178					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	ENST00000260315.3	37	c.533_534insA	CCDS8328.2																																																																																				0.401	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		31	133	NA	NA	NA	NA	NA	31	133	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506711	11506712	+	Intron	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:11506711_11506712insG	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGACCTTGGGGCTGGTTA	0.614																																							uc001qzw.1		NA																	0					0						c.(325-327)CAAfs		proline-rich protein BstNI subfamily 1 isoform 1																																				SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506711_11506712insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+11->C	12.37:g.11506715_11506715dupG						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.Q109fs	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	362_363	-			170		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.325_326insC	CCDS8642.1																																																																																				0.614	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		64	478	NA	NA	NA	NA	NA	64	478	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46315840	46315841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:46315840_46315841insT	ENST00000369367.3	-	15	4615_4616	c.4382_4383insA	c.(4381-4383)aacfs	p.N1461fs	SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N1269fs|SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.N1146fs|SCAF11_ENST00000550629.1_Intron	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1461					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTCAGCCTATGTTTTTTTCAGT	0.376																																							uc001rox.2		NA																	0					0						c.(4381-4383)AACfs		splicing factor, arginine/serine-rich 2,																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46315840_46315841insT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4383dupA	12.37:g.46315847_46315847dupT	ENSP00000358374:p.Asn1461fs					SFRS2IP_uc001row.2_Frame_Shift_Ins_p.N1146fs	p.N1461fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	15	4669_4670	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1461					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	37	c.4382_4383insA	CCDS8748.2																																																																																				0.376	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		47	262	NA	NA	NA	NA	NA	47	262	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57598893	57598894	+	Splice_Site	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:57598893_57598894insC	ENST00000243077.3	+	73	11662_11663	c.11196_11197insC	c.(11197-11199)ccc>Cccc	p.P3733fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3733	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P3733S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCAGAGCCCCCCACAGC	0.589																																							uc001snd.2		NA																	1	Substitution - Missense(1)	p.P3733S(1)	breast(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11194-11199)GAGCCCfs		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598893_57598894insC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11195-1->C	12.37:g.57598899_57598899dupC							p.E3732fs	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	73	11662_11663	+			3732_3733			Extracellular (Potential).|LDL-receptor class A 30.		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.11196_11197insC	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Frame_Shift_Ins	14	59	NA	NA	NA	NA	NA	14	59	---	---	---	---
C12orf66	144577	broad.mit.edu	37	12	64588065	64588066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:64588065_64588066insA	ENST00000398055.3	-	3	947_948	c.894_895insT	c.(892-897)tttggafs	p.G299fs	C12orf66_ENST00000311915.8_Frame_Shift_Ins_p.G299fs|C12orf66_ENST00000544871.1_Frame_Shift_Ins_p.G246fs	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	299										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GAAATCTTTCCAAAAAAGTCTG	0.401																																							uc001srw.3		NA																	0				ovary(1)	1						c.(892-897)TTTGGAfs		hypothetical protein LOC144577																																				SO:0001589	frameshift_variant	144577							g.chr12:64588065_64588066insA		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.895dupT	12.37:g.64588071_64588071dupA	ENSP00000381132:p.Gly299fs					C12orf66_uc009zql.2_Frame_Shift_Ins_p.F245fs	p.F298fs	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	953_954	-			298_299					C9JX54|Q8IYA0	Frame_Shift_Ins	INS	ENST00000398055.3	37	c.894_895insT	CCDS41803.1																																																																																				0.401	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		24	130	NA	NA	NA	NA	NA	24	130	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100453146	100453147	+	Frame_Shift_Ins	INS	-	-	A	rs3748287	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:100453146_100453147insA	ENST00000279907.7	-	14	2120_2121	c.1908_1909insT	c.(1906-1911)tttagtfs	p.S637fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.S287fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	637										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATGTTTTACTAAAAAAATCAC	0.351																																							uc001tgq.2		NA																	0				ovary(2)	2						c.(1906-1911)TTTAGTfs		UHRF1 (ICBP90) binding protein 1-like isoform a																																				SO:0001589	frameshift_variant	23074							g.chr12:100453146_100453147insA		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1909dupT	12.37:g.100453153_100453153dupA	ENSP00000279907:p.Ser637fs					UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.F286fs	p.F636fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2137_2138	-			636_637					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.1908_1909insT	CCDS31882.1																																																																																				0.351	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		19	73	NA	NA	NA	NA	NA	19	73	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101779775	101779776	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:101779775_101779776insA	ENST00000261637.4	+	62	8406_8407	c.8232_8233insA	c.(8233-8235)aaafs	p.K2745fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2745	Nuclear localization signal.|Nucleolar localization signal.				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGCTGCCAAGAAAAAAATGAA	0.307																																							uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(8230-8235)AAGAAAfs		down-regulated in metastasis																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101779775_101779776insA	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.8239dupA	12.37:g.101779782_101779782dupA	ENSP00000261637:p.Lys2745fs						p.K2744fs	NM_014503	NP_055318	O75691	UTP20_HUMAN			62	8388_8389	+			2744_2745	KKK->AAA: Inhibits nucleolar but not nuclear localization.|K->A: Does not decrease nucleolar localization.		Nuclear localization signal.|Potential.|Nucleolar localization signal.		Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.8232_8233insA	CCDS9081.1																																																																																				0.307	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	79	NA	NA	NA	NA	NA	7	79	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:112082051_112082052insC	ENST00000327551.6	-	12	1780_1781	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs	BRAP_ENST00000419234.4_Frame_Shift_Ins_p.G577fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.G398fs			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604																																					Pancreas(146;846 1904 7830 25130 26065)	Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NA																	0				lung(1)	1						c.(1729-1731)GGCfs		BRCA1 associated protein																																				SO:0001589	frameshift_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082051_112082052insC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1641dupG	12.37:g.112082057_112082057dupC	ENSP00000330813:p.Gly547fs					BRAP_uc010syh.1_Frame_Shift_Ins_p.G398fs|BRAP_uc009zvv.2_Frame_Shift_Ins_p.G547fs	p.G577fs	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			12	1924_1925	-			577					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	ENST00000327551.6	37	c.1730_1731insG																																																																																					0.604	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			15	74	NA	NA	NA	NA	NA	15	74	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123087619	123087620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:123087619_123087620insA	ENST00000333479.7	+	48	5107_5108	c.4930_4931insA	c.(4930-4932)gaafs	p.E1644fs	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Frame_Shift_Ins_p.E69fs	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1644					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACACGTTTTCGAAAAAAAACTG	0.391																																							uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4930-4932)GAAfs		Rough Deal homolog, centromere/kinetochore																																				SO:0001589	frameshift_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087619_123087620insA		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4938dupA	12.37:g.123087627_123087627dupA	ENSP00000328236:p.Glu1644fs					KNTC1_uc010taf.1_Intron	p.E1644fs	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	48	5093_5094	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1644					A7E2C4|B3KSG2	Frame_Shift_Ins	INS	ENST00000333479.7	37	c.4930_4931insA	CCDS45002.1																																																																																				0.391	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			7	42	NA	NA	NA	NA	NA	7	42	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51446192	51446192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:51446192delA	ENST00000298355.3	-	9	3104	c.1983delT	c.(1981-1983)tttfs	p.F661fs	TRIM9_ENST00000338969.5_Frame_Shift_Del_p.F742fs	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	661	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CATCGTTGATAAAAAATGTCA	0.473																																							uc001wyx.3		NA																	0				skin(2)|lung(1)	3						c.(1981-1983)TTTfs		tripartite motif protein 9 isoform 1							193.0	208.0	203.0					14																	51446192		2203	4300	6503	SO:0001589	frameshift_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446192delA	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1983delT	14.37:g.51446192delA	ENSP00000298355:p.Phe661fs					TRIM9_uc001wyy.2_Frame_Shift_Del_p.F742fs	p.F661fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			9	2748	-	all_epithelial(31;0.00418)|Breast(41;0.148)		661			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Frame_Shift_Del	DEL	ENST00000298355.3	37	c.1983delT	CCDS9703.1																																																																																				0.473	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		12	306	NA	NA	NA	NA	NA	12	306	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441																																							uc001ybo.2		NA																	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)		large_intestine(4)	pancreas(1)	1						c.(172-174)AAGfs		BTB (POZ) domain containing 7 isoform 1																																				SO:0001589	frameshift_variant	55727							g.chr14:93761192_93761193insT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.174dupA	14.37:g.93761200_93761200dupT	ENSP00000335615:p.Lys58fs					BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Frame_Shift_Ins_p.K58fs	p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	499_500	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	c.173_174insA	CCDS32146.1																																																																																				0.441	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		28	132	NA	NA	NA	NA	NA	28	132	---	---	---	---
LOC101927079	101927079	broad.mit.edu	37	15	22332412	22332413	+	RNA	INS	-	-	A	rs373011460		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22332412_22332413insA	ENST00000558896.1	+	0	219_220																											TTGGCTTGATGAAAAAAAACAA	0.322																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(-764--759)ATGAAA>ATGAAAA		olfactory receptor, family 4, subfamily N,																																						283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22332412_22332413insA																													15.37:g.22332420_22332420dupA						LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron		NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	3	219_220	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)							Translation_Start_Site	INS	ENST00000558896.1	37	c.-762_-761insA																																																																																					0.322	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			7	76	NA	NA	NA	NA	NA	7	76	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31409145	31409146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:31409145_31409146insG	ENST00000389202.2	+	5	391_392	c.342_343insG	c.(343-345)gggfs	p.G115fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	115					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACAGAGTCTGTGGGGAGAACTC	0.653																																							uc002ebv.1		NA																	0				skin(1)	1						c.(340-345)TGTGGGfs		integrin, alpha D precursor																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409145_31409146insG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.346dupG	16.37:g.31409149_31409149dupG	ENSP00000373854:p.Gly115fs					ITGAD_uc010vfl.1_Frame_Shift_Ins_p.C114fs|ITGAD_uc010cap.1_Frame_Shift_Ins_p.C114fs|ITGAD_uc002ebw.1_5'UTR	p.C114fs	NM_005353	NP_005344	Q13349	ITAD_HUMAN			5	391_392	+			114_115			FG-GAP 2.|Extracellular (Potential).		Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.342_343insG	CCDS32438.1																																																																																				0.653	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	35	NA	NA	NA	NA	NA	7	35	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68846036	68846037	+	Splice_Site	DEL	AG	AG	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:68846036_68846037delAG	ENST00000261769.5	+	8	1199		c.e8-1		CDH1_ENST00000422392.2_Splice_Site|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(9)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATCTCTCTGCAGAGTTTCCCTA	0.51			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		9	Unknown(9)	p.?(8)	stomach(7)|breast(2)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.e8-1		cadherin 1, type 1 preproprotein																																				SO:0001630	splice_region_variant	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846036_68846037delAG	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1009-1AG>-	16.37:g.68846038_68846039delAG						CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.S337_splice	p.S337_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1133	+		all_neural(199;0.0189)|Ovarian(137;0.0563)						A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	DEL	ENST00000261769.5	37	c.1009_splice	CCDS10869.1																																																																																				0.510	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Intron	8	82	NA	NA	NA	NA	NA	8	82	---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37884217	37884218	+	Frame_Shift_Ins	INS	-	-	G	rs372043866		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37884217_37884218insG	ENST00000269571.5	+	27	3847_3848	c.3688_3689insG	c.(3688-3690)cggfs	p.R1230fs	ERBB2_ENST00000584601.1_Frame_Shift_Ins_p.R1200fs|ERBB2_ENST00000541774.1_Frame_Shift_Ins_p.R1215fs|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000406381.2_Frame_Shift_Ins_p.R1200fs|ERBB2_ENST00000540147.1_Frame_Shift_Ins_p.R1200fs|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000445658.2_Frame_Shift_Ins_p.R954fs|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1230					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCCACCAGAGCGGGGGGCTCCA	0.634		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3688-3690)CGGfs		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884217_37884218insG	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3694dupG	17.37:g.37884223_37884223dupG	ENSP00000269571:p.Arg1230fs	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Frame_Shift_Ins_p.R1200fs|ERBB2_uc010cwa.2_Frame_Shift_Ins_p.R1215fs|ERBB2_uc002hsp.2_Frame_Shift_Ins_p.R1033fs|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Frame_Shift_Ins_p.R954fs	p.R1230fs	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3926_3927	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1230			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Frame_Shift_Ins	INS	ENST00000269571.5	37	c.3688_3689insG	CCDS32642.1																																																																																				0.634	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			19	96	NA	NA	NA	NA	NA	19	96	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT	rs199628152	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:56056586_56056587insTGT	ENST00000581208.1	-	5	1104_1105	c.1064_1065insACA	c.(1063-1065)cat>caACAt	p.354_355insQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.345_346insQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475														309	0.0617013	0.1483	0.0245	5008	,	,		20971	0.005		0.0169	False		,,,				2504	0.0757						uc002ivf.1		NA																	0				ovary(1)|breast(1)	2						c.(1063-1065)CAT>CAACAT		zinc finger protein 161																																				SO:0001652	inframe_insertion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056586_56056587insTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064dupACA	17.37:g.56056593_56056595dupTGT	ENSP00000462337:p.Gln354_Gln354dup					VEZF1_uc010dcn.1_In_Frame_Ins_p.204_205insQ	p.354_355insQ	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			5	1207_1208	-			354_355						In_Frame_Ins	INS	ENST00000581208.1	37	c.1064_1065insACA	CCDS32687.1																																																																																				0.475	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			26	255	NA	NA	NA	NA	NA	26	255	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65871138	65871139	+	Splice_Site	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:65871138_65871139insA	ENST00000321892.4	+	4	1925		c.e4+2		BPTF_ENST00000306378.6_Splice_Site|BPTF_ENST00000424123.3_Splice_Site|BPTF_ENST00000335221.5_Splice_Site			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor						anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATCTGAGGGTAAAAAAATTAC	0.337																																							uc002jgf.2		NA																	0				ovary(2)|skin(2)	4						c.e4+2		bromodomain PHD finger transcription factor																																				SO:0001630	splice_region_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871138_65871139insA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1864+2->A	17.37:g.65871145_65871145dupA						BPTF_uc002jge.2_Splice_Site_p.E622_splice|BPTF_uc010wqm.1_Splice_Site_p.E622_splice	p.V622_splice	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	1925	+	all_cancers(12;6e-11)							Q6NX67|Q7Z7D6|Q9UIG2	Splice_Site	INS	ENST00000321892.4	37	c.1864_splice																																																																																					0.337	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	Intron	9	49	NA	NA	NA	NA	NA	9	49	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068450	74068451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:74068450_74068451insT	ENST00000307877.2	-	1	283_284	c.122_123insA	c.(121-123)aacfs	p.N41fs	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Frame_Shift_Ins_p.N41fs|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	41					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAGGGCGTTCGTTTTCTTTATT	0.619																																							uc002jqk.1		NA																	0				ovary(1)	1						c.(121-123)AACfs		signal recognition particle 68kDa																																				SO:0001589	frameshift_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068450_74068451insT	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.123dupA	17.37:g.74068454_74068454dupT	ENSP00000312066:p.Asn41fs					SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Frame_Shift_Ins_p.N41fs|GALR2_uc002jqm.1_5'Flank	p.N41fs	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			1	157_158	-			41					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Frame_Shift_Ins	INS	ENST00000307877.2	37	c.122_123insA	CCDS11738.1																																																																																				0.619	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		71	246	NA	NA	NA	NA	NA	71	246	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78923270	78923271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:78923270_78923271insT	ENST00000306801.3	+	28	3655_3656	c.3293_3294insT	c.(3292-3297)aattttfs	p.NF1098fs	RPTOR_ENST00000544334.2_Frame_Shift_Ins_p.NF940fs|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1098					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTCTGGAAGAATTTTGCTGATT	0.614																																							uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(3292-3294)AATfs		raptor isoform 1																																				SO:0001589	frameshift_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78923270_78923271insT		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3297dupT	17.37:g.78923274_78923274dupT	ENSP00000307272:p.Asn1098fs					RPTOR_uc010wug.1_Frame_Shift_Ins_p.N940fs|RPTOR_uc002jyu.1_5'UTR	p.N1098fs	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			28	4098_4099	+			1098			WD 2.		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Frame_Shift_Ins	INS	ENST00000306801.3	37	c.3293_3294insT	CCDS11773.1																																																																																				0.614	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		44	276	NA	NA	NA	NA	NA	44	276	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044269	20044270	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:20044269_20044270insA	ENST00000343769.5	+	4	533_534	c.505_506insA	c.(505-507)gaafs	p.E169fs	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	169					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AAGACATACTGAAAAAAAACCT	0.307																																							uc002non.2		NA																	0				pancreas(1)	1						c.(505-507)GAAfs		zinc finger protein 93																																				SO:0001589	frameshift_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044269_20044270insA	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.513dupA	19.37:g.20044277_20044277dupA	ENSP00000342002:p.Glu169fs						p.E169fs	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	616_617	+			169					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Frame_Shift_Ins	INS	ENST00000343769.5	37	c.505_506insA	CCDS32973.1																																																																																				0.307	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		8	45	NA	NA	NA	NA	NA	8	45	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45322439	45322440	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:45322439_45322440insG	ENST00000270233.6	+	11	1485_1486	c.1463_1464insG	c.(1462-1467)ttggggfs	p.LG488fs	BCAM_ENST00000589651.1_Frame_Shift_Ins_p.LG488fs	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	488	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGCCAATTGGGGGGCAGCG	0.594																																							uc002ozu.2		NA																	0				skin(1)	1						c.(1462-1464)TTGfs		basal cell adhesion molecule isoform 1																																				SO:0001589	frameshift_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322439_45322440insG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1469dupG	19.37:g.45322445_45322445dupG	ENSP00000270233:p.Leu488fs					BCAM_uc002ozt.1_Frame_Shift_Ins_p.L488fs	p.L488fs	NM_005581	NP_005572	P50895	BCAM_HUMAN			11	1507_1508	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	488			Extracellular (Potential).|Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Frame_Shift_Ins	INS	ENST00000270233.6	37	c.1463_1464insG	CCDS12644.1																																																																																				0.594	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		9	112	NA	NA	NA	NA	NA	9	112	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001						uc002slj.1		NA																	0					0						c.(544-546)GCCfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Frame_Shift_Ins_p.A179fs|WBP1_uc002sll.1_RNA	p.A182fs	NM_012477	NP_036609	Q96G27	WBP1_HUMAN			4	697_698	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.544_545insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		39	192	NA	NA	NA	NA	NA	39	192	---	---	---	---
RNF103	7844	broad.mit.edu	37	2	86831014	86831015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:86831014_86831015insT	ENST00000237455.4	-	4	2977_2978	c.2009_2010insA	c.(2008-2010)aagfs	p.K670fs	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'Flank	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CATATGGCTGCTTTTTTTTATA	0.441																																							uc002srn.2		NA																	0				central_nervous_system(1)	1						c.(2008-2010)AAGfs		ring finger protein 103			,,	0,4266		0,0,2133					,,	4.7	1.0			35	3,8251		0,3,4124	no	frameshift,intron,frameshift	RNF103,RNF103-VPS24	NM_005667.3,NM_001198954.1,NM_001198951.1	,,	0,3,6257	A1A1,A1R,RR		0.0363,0.0,0.024	,,	,,		3,12517				SO:0001589	frameshift_variant	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831014_86831015insT	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.2010dupA	2.37:g.86831022_86831022dupT	ENSP00000237455:p.Lys670fs					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Frame_Shift_Ins_p.K531fs|uc002sro.2_5'Flank	p.K670fs	NM_005667	NP_005658	O00237	RN103_HUMAN			4	2978_2979	-			670					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Ins	INS	ENST00000237455.4	37	c.2009_2010insA	CCDS33237.1																																																																																				0.441	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		20	128	NA	NA	NA	NA	NA	20	128	---	---	---	---
RBM43	375287	broad.mit.edu	37	2	152112047	152112048	+	Splice_Site	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:152112047_152112048insT	ENST00000331426.5	-	2	364_365	c.213_214insA	c.(211-216)aaagtt>aaaAgtt	p.V72fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287																																							uc002txh.2		NA																	0					0						c.(211-216)AAAGTTfs		RNA binding motif protein 43																																				SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112047_152112048insT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1->A	2.37:g.152112055_152112055dupT							p.K71fs	NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	361_362	-			71_72			RRM.		B2RMT5	Frame_Shift_Ins	INS	ENST00000331426.5	37	c.213_214insA	CCDS2191.1																																																																																				0.287	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Frame_Shift_Ins	17	95	NA	NA	NA	NA	NA	17	95	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152534572	152534573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:152534572_152534573insT	ENST00000172853.10	-	33	3531_3532	c.3384_3385insA	c.(3382-3387)aaagacfs	p.D1129fs	NEB_ENST00000603639.1_Frame_Shift_Ins_p.D1129fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D1129fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.D1129fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D1129fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.D1129fs			P20929	NEBU_HUMAN	nebulin	1129					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCATAGTCTTTTTTATACT	0.416																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3382-3387)AAAGACfs		nebulin isoform 3																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534572_152534573insT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3385dupA	2.37:g.152534578_152534578dupT	ENSP00000172853:p.Asp1129fs						p.K1128fs	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	33	3575_3576	-			1128_1129			Nebulin 27.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.3384_3385insA																																																																																					0.416	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	48	NA	NA	NA	NA	NA	8	48	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169801236	169801237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:169801236_169801237insT	ENST00000263817.6	-	21	2612_2613	c.2488_2489insA	c.(2488-2490)aggfs	p.R830fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	830	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTACGTAGCCTTTTTGTTAGG	0.396																																							uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2488-2490)AGGfs		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801236_169801237insT	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2489dupA	2.37:g.169801241_169801241dupT	ENSP00000263817:p.Arg830fs					ABCB11_uc010zda.1_Frame_Shift_Ins_p.R272fs|ABCB11_uc010zdb.1_Frame_Shift_Ins_p.R306fs	p.R830fs	NM_003742	NP_003733	O95342	ABCBB_HUMAN			21	2614_2615	-			830			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Frame_Shift_Ins	INS	ENST00000263817.6	37	c.2488_2489insA	CCDS46444.1																																																																																				0.396	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		21	112	NA	NA	NA	NA	NA	21	112	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665007	170665008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:170665007_170665008insA	ENST00000409333.1	+	7	817_818	c.570_571insA	c.(571-573)aaafs	p.K191fs	SSB_ENST00000260956.4_Frame_Shift_Ins_p.K191fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	191					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATTACTTTGCCAAAAAAAATGA	0.322																																							uc002ufk.2		NA																	0				skin(3)|pancreas(1)	4						c.(568-573)GCCAAAfs		autoantigen La																																				SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665007_170665008insA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.578dupA	2.37:g.170665015_170665015dupA	ENSP00000386636:p.Lys191fs					SSB_uc002ufl.2_Frame_Shift_Ins_p.A190fs|SSB_uc002ufm.2_Frame_Shift_Ins_p.A190fs	p.A190fs	NM_003142	NP_003133	P05455	LA_HUMAN			7	677_678	+			190_191					Q15367|Q53XJ4	Frame_Shift_Ins	INS	ENST00000409333.1	37	c.570_571insA	CCDS2237.1																																																																																				0.322	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		12	67	NA	NA	NA	NA	NA	12	67	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171073882	171073883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:171073882_171073883insC	ENST00000408978.4	+	6	723_724	c.580_581insC	c.(580-582)accfs	p.T194fs	MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.T203fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.T194fs|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCTGTTGGCACCCCGTTCTGG	0.436																																							uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(580-582)ACCfs		myosin IIIB isoform 2																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171073882_171073883insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.584dupC	2.37:g.171073886_171073886dupC	ENSP00000386213:p.Thr194fs					MYO3B_uc002ufv.2_Frame_Shift_Ins_p.T181fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.T181fs|MYO3B_uc002ufz.2_Frame_Shift_Ins_p.T194fs|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Frame_Shift_Ins_p.T181fs	p.T194fs	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			6	723_724	+			194			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.580_581insC	CCDS42773.1																																																																																				0.436	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	271	NA	NA	NA	NA	NA	8	271	---	---	---	---
OLA1	29789	broad.mit.edu	37	2	175111470	175111471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:175111470_175111471insT	ENST00000409546.1	-	2	763_764	c.133_134insA	c.(133-135)attfs	p.I45fs	OLA1_ENST00000428402.2_Frame_Shift_Ins_p.I25fs|OLA1_ENST00000284719.3_Frame_Shift_Ins_p.I25fs|OLA1_ENST00000344357.5_Intron					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						AACAATACCAATTTTCAGTGAG	0.396																																							uc002uih.2		NA																	0				ovary(1)|breast(1)	2						c.(73-75)ATTfs		Obg-like ATPase 1 isoform 1																																				SO:0001589	frameshift_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175111470_175111471insT		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.134dupA	2.37:g.175111474_175111474dupT	ENSP00000386350:p.Ile45fs					OLA1_uc002uii.2_Intron|OLA1_uc010fqq.2_Frame_Shift_Ins_p.I25fs|OLA1_uc002uij.2_Intron|OLA1_uc002uik.2_5'UTR|OLA1_uc010fqr.2_Frame_Shift_Ins_p.I25fs	p.I25fs	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			2	259_260	-			25						Frame_Shift_Ins	INS	ENST00000409546.1	37	c.73_74insA																																																																																					0.396	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		10	103	NA	NA	NA	NA	NA	10	103	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231931679	231931680	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:231931679_231931680insA	ENST00000308696.6	+	5	526_527	c.364_365insA	c.(364-366)gaafs	p.E122fs	PSMD1_ENST00000373635.4_Frame_Shift_Ins_p.E122fs|PSMD1_ENST00000409643.1_Frame_Shift_Ins_p.E122fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	122					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.K124fs*11(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCTGAAGGAGAAAAAAAACCA	0.366																																							uc002vrn.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(364-366)GAAfs		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)																																			SO:0001589	frameshift_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231931679_231931680insA	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.372dupA	2.37:g.231931687_231931687dupA	ENSP00000309474:p.Glu122fs					PSMD1_uc002vrm.1_Frame_Shift_Ins_p.E122fs|PSMD1_uc010fxu.1_5'UTR	p.E122fs	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	5	495_496	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	122					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Ins	INS	ENST00000308696.6	37	c.364_365insA	CCDS2482.1																																																																																				0.366	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			9	32	NA	NA	NA	NA	NA	9	32	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34295125	34295126	+	Splice_Site	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:34295125_34295126insA	ENST00000253363.6	-	14	1249		c.e14-2		RBM39_ENST00000361162.6_Splice_Site|RBM39_ENST00000528062.3_Splice_Site|RBM39_ENST00000407261.4_Splice_Site			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AAGCTGAAGCTAAAAAAAGAAA	0.366																																							uc002xeb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e14-1		RNA binding motif protein 39 isoform a																																				SO:0001630	splice_region_variant	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34295125_34295126insA	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1226-2->T	20.37:g.34295132_34295132dupA						RBM39_uc002xdz.2_Splice_Site_p.A385_splice|RBM39_uc002xea.2_Splice_Site_p.A252_splice|RBM39_uc010gfn.2_Splice_Site_p.A252_splice|RBM39_uc010zvm.1_Splice_Site_p.A381_splice|RBM39_uc002xeg.2_Splice_Site_p.A387_splice|RBM39_uc002xec.2_Splice_Site_p.A403_splice|RBM39_uc002xed.2_Splice_Site_p.A127_splice|RBM39_uc002xee.2_Splice_Site_p.A252_splice|RBM39_uc002xef.2_Splice_Site_p.A246_splice|RBM39_uc010zvn.1_Splice_Site_p.A252_splice	p.A409_splice	NM_184234	NP_909122	Q14498	RBM39_HUMAN			14	1570	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)							A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Splice_Site	INS	ENST00000253363.6	37	c.1226_splice	CCDS13266.1																																																																																				0.366	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	Intron	8	39	NA	NA	NA	NA	NA	8	39	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37534665	37534665	+	Frame_Shift_Del	DEL	C	C	-	rs4812332	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:37534665delC	ENST00000299824.1	+	7	939	c.750delC	c.(748-750)gacfs	p.D250fs	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	250					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TCCTCCTGGACCATGGAGTGC	0.612																																							uc002xje.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(748-750)GACfs		protein phosphatase 1 regulatory inhibitor							106.0	95.0	98.0					20																	37534665		2203	4300	6503	SO:0001589	frameshift_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37534665delC	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.750delC	20.37:g.37534665delC	ENSP00000299824:p.Asp250fs					PPP1R16B_uc010ggc.2_Intron	p.D250fs	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			7	939	+		Myeloproliferative disorder(115;0.00878)	250			ANK 3.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Frame_Shift_Del	DEL	ENST00000299824.1	37	c.750delC	CCDS13309.1																																																																																				0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		24	83	NA	NA	NA	NA	NA	24	83	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43058204	43058204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:43058204delG	ENST00000316099.4	+	10	1413	c.1324delG	c.(1324-1326)gggfs	p.G442fs	HNF4A_ENST00000316673.4_Frame_Shift_Del_p.G420fs|HNF4A_ENST00000415691.2_Frame_Shift_Del_p.G432fs|HNF4A_ENST00000457232.1_Frame_Shift_Del_p.G410fs	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	442					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTGGCTCAGGGTCTGAGCC	0.592																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1324-1326)GGGfs		hepatocyte nuclear factor 4 alpha isoform b							86.0	92.0	90.0					20																	43058204		2203	4300	6503	SO:0001589	frameshift_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43058204delG	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1324delG	20.37:g.43058204delG	ENSP00000312987:p.Gly442fs					HNF4A_uc002xlu.2_Frame_Shift_Del_p.G410fs|HNF4A_uc002xlv.2_Frame_Shift_Del_p.G420fs|HNF4A_uc002xlz.2_Frame_Shift_Del_p.G432fs|HNF4A_uc010ggq.2_Frame_Shift_Del_p.G435fs	p.G442fs	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		10	1413	+		Myeloproliferative disorder(115;0.0122)	442					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Frame_Shift_Del	DEL	ENST00000316099.4	37	c.1324delG	CCDS13330.1																																																																																				0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			30	255	NA	NA	NA	NA	NA	30	255	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47587876	47587877	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:47587876_47587877insA	ENST00000371917.4	+	10	1410_1411	c.1410_1411insA	c.(1411-1413)aaafs	p.K471fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	471					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAATGCACTTGAAAATGCAGAT	0.337																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1408-1413)TTGAAAfs		ADP-ribosylation factor guanine																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587876_47587877insA	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1414dupA	20.37:g.47587880_47587880dupA	ENSP00000360985:p.Lys471fs						p.L470fs	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1562_1563	+			470_471					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.1410_1411insA	CCDS13411.1																																																																																				0.337	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		10	58	NA	NA	NA	NA	NA	10	58	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20940865	20940866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:20940865_20940866insT	ENST00000263205.7	+	18	2310_2311	c.2241_2242insT	c.(2242-2244)ttcfs	p.F748fs	MED15_ENST00000292733.7_Frame_Shift_Ins_p.F708fs|MED15_ENST00000541476.1_Frame_Shift_Ins_p.F682fs|MED15_ENST00000382974.2_Frame_Shift_Ins_p.F637fs|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Frame_Shift_Ins_p.F597fs|MED15_ENST00000406969.1_Frame_Shift_Ins_p.F682fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	748					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACGCCAACCCCTTCCTCCAGTC	0.678																																							uc002zsp.2		NA																	0		p.P747S(1)		skin(1)	1						c.(2239-2244)CCCTTCfs		mediator complex subunit 15 isoform a																																				SO:0001589	frameshift_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20940865_20940866insT	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2243dupT	22.37:g.20940867_20940867dupT	ENSP00000263205:p.Phe748fs					MED15_uc002zsq.2_Frame_Shift_Ins_p.P707fs|MED15_uc010gso.2_Frame_Shift_Ins_p.P690fs|MED15_uc002zsr.2_Frame_Shift_Ins_p.P681fs|MED15_uc011ahs.1_Frame_Shift_Ins_p.P681fs|MED15_uc002zss.2_Frame_Shift_Ins_p.P626fs|MED15_uc011ahu.1_Frame_Shift_Ins_p.P457fs|MED15_uc002zst.2_Frame_Shift_Ins_p.P363fs|MED15_uc002zsu.2_Frame_Shift_Ins_p.P352fs	p.P747fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		18	2321_2322	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	747_748					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Frame_Shift_Ins	INS	ENST00000263205.7	37	c.2241_2242insT	CCDS33602.1																																																																																				0.678	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		12	99	NA	NA	NA	NA	NA	12	99	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55151646	55151647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:55151646_55151647insA	ENST00000257290.5	+	17	2763_2764	c.2432_2433insA	c.(2431-2436)tcaaaafs	p.SK811fs	FIP1L1_ENST00000507166.1_Frame_Shift_Ins_p.SK571fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTTTTGGCTTCAAAAAATGTAA	0.416			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2431-2433)TCAfs		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151646_55151647insA	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2438dupA	4.37:g.55151652_55151652dupA	ENSP00000257290:p.Ser811fs	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Frame_Shift_Ins_p.S571fs	p.S811fs	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2763_2764	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		811			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Frame_Shift_Ins	INS	ENST00000257290.5	37	c.2432_2433insA	CCDS3495.1																																																																																				0.416	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		9	77	NA	NA	NA	NA	NA	9	77	---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916559	86916560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:86916559_86916560insG	ENST00000395184.1	+	9	2218_2219	c.1752_1753insG	c.(1753-1755)gggfs	p.G585fs	ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.G490fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.G492fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	585					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGACTTTTTTGGGGGGAACTT	0.559																																							uc003hpk.2		NA																	0					0						c.(1750-1755)TTTGGGfs		Rho GTPase activating protein 24 isoform 1																																				SO:0001589	frameshift_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916559_86916560insG	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1758dupG	4.37:g.86916565_86916565dupG	ENSP00000378611:p.Gly585fs					ARHGAP24_uc003hpl.2_Frame_Shift_Ins_p.F489fs|ARHGAP24_uc010ikf.2_Frame_Shift_Ins_p.F499fs|ARHGAP24_uc003hpm.2_Frame_Shift_Ins_p.F491fs	p.F584fs	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2201_2202	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	584_585					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Ins	INS	ENST00000395184.1	37	c.1752_1753insG	CCDS34025.1																																																																																				0.559	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		27	73	NA	NA	NA	NA	NA	27	73	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6607459	6607460	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:6607459_6607460delCT	ENST00000264670.6	-	13	1672_1673	c.1361_1362delAG	c.(1360-1362)cagfs	p.Q454fs	NSUN2_ENST00000506139.1_Frame_Shift_Del_p.Q419fs|NSUN2_ENST00000539938.1_Frame_Shift_Del_p.Q218fs	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	454					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CAGGGCTCAGCTGTGTGCTTTC	0.46																																							uc003jdu.2		NA																	0				ovary(1)	1						c.(1360-1362)CAGfs		NOL1/NOP2/Sun domain family, member 2																																				SO:0001589	frameshift_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6607459_6607460delCT	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1361_1362delAG	5.37:g.6607459_6607460delCT	ENSP00000264670:p.Gln454fs					NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Frame_Shift_Del_p.Q218fs|NSUN2_uc011cmk.1_Frame_Shift_Del_p.Q419fs|NSUN2_uc003jdv.2_Frame_Shift_Del_p.Q218fs	p.Q454fs	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			13	1426_1427	-			454					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Frame_Shift_Del	DEL	ENST00000264670.6	37	c.1361_1362delAG	CCDS3869.1																																																																																				0.460	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		21	108	NA	NA	NA	NA	NA	21	108	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37183684	37183685	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:37183684_37183685insT	ENST00000508244.1	-	25	4691_4692	c.4598_4599insA	c.(4597-4599)aatfs	p.N1533fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.N1533fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.N414fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1533						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGGAAGTGTATTTTGTGATAA	0.302																																							uc011cpa.1		NA																	0				ovary(4)|breast(2)|skin(1)	7						c.(4597-4599)AATfs		hypothetical protein LOC65250																																				SO:0001589	frameshift_variant	65250							g.chr5:37183684_37183685insT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4599dupA	5.37:g.37183688_37183688dupT	ENSP00000421690:p.Asn1533fs					C5orf42_uc011coy.1_Frame_Shift_Ins_p.N34fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Ins_p.N608fs|C5orf42_uc011cpb.1_Frame_Shift_Ins_p.N414fs	p.N1533fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	4829_4830	-	all_lung(31;0.000616)		1533					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	ENST00000508244.1	37	c.4598_4599insA	CCDS34146.2																																																																																				0.302	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		13	46	NA	NA	NA	NA	NA	13	46	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38945792	38945793	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:38945792_38945793insT	ENST00000357387.3	-	34	4463_4464	c.4433_4434insA	c.(4432-4434)aatfs	p.N1478fs	RICTOR_ENST00000296782.5_Frame_Shift_Ins_p.N1502fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTGAAAAGAATTTTTTACAAG	0.342																																							uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4432-4434)AATfs		rapamycin-insensitive companion of mTOR																																				SO:0001589	frameshift_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945792_38945793insT		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4434dupA	5.37:g.38945798_38945798dupT	ENSP00000349959:p.Asn1478fs					RICTOR_uc003jlo.2_Frame_Shift_Ins_p.N1502fs|RICTOR_uc010ivf.2_Intron	p.N1478fs	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			34	4457_4458	-	all_lung(31;0.000396)		1478						Frame_Shift_Ins	INS	ENST00000357387.3	37	c.4433_4434insA	CCDS34148.1																																																																																				0.342	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		7	50	NA	NA	NA	NA	NA	7	50	---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59982868	59982869	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:59982868_59982869insT	ENST00000265036.5	-	2	301_302	c.234_235insA	c.(232-237)aaattcfs	p.F79fs	DEPDC1B_ENST00000453022.2_Frame_Shift_Ins_p.F79fs|DEPDC1B_ENST00000545085.1_Frame_Shift_Ins_p.F52fs	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTTCAGGAATTTTTTTAGCA	0.465																																							uc003jsh.2		NA																	0				ovary(1)	1						c.(232-237)AAATTCfs		DEP domain containing 1B isoform 1																																				SO:0001589	frameshift_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982868_59982869insT	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.235dupA	5.37:g.59982875_59982875dupT	ENSP00000265036:p.Phe79fs					DEPDC1B_uc011cqm.1_Frame_Shift_Ins_p.K78fs|DEPDC1B_uc011cqn.1_Frame_Shift_Ins_p.K51fs	p.K78fs	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			2	307_308	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	78_79			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Frame_Shift_Ins	INS	ENST00000265036.5	37	c.234_235insA	CCDS3977.1																																																																																				0.465	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		46	166	NA	NA	NA	NA	NA	46	166	---	---	---	---
LMNB1	4001	broad.mit.edu	37	5	126154676	126154677	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:126154676_126154677delCT	ENST00000261366.5	+	6	1363_1364	c.1002_1003delCT	c.(1000-1005)aactctfs	p.S335fs	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Frame_Shift_Del_p.S335fs	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	335	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AAAAAGACAACTCTCGTCGCAT	0.391																																							uc003kud.1		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(1000-1005)AACTCTfs		lamin B1																																				SO:0001589	frameshift_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126154676_126154677delCT	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1002_1003delCT	5.37:g.126154678_126154679delCT	ENSP00000261366:p.Ser335fs					LMNB1_uc003kuc.2_Frame_Shift_Del_p.N334fs|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Frame_Shift_Del_p.N124fs	p.N334fs	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	6	1370_1371	+		all_cancers(142;0.103)|Prostate(80;0.081)	334_335			Rod.|Coil 2.		B2R6J6|Q3SYN7|Q96EI6	Frame_Shift_Del	DEL	ENST00000261366.5	37	c.1002_1003delCT	CCDS4140.1																																																																																				0.391	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		25	83	NA	NA	NA	NA	NA	25	83	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531175	140531175	+	Frame_Shift_Del	DEL	T	T	-	rs246707		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140531175delT	ENST00000231136.1	+	1	1337	c.1337delT	c.(1336-1338)gtcfs	p.V446fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.V310fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> A (in dbSNP:rs246707). {ECO:0000269|PubMed:14702039}.		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAACGTCCCCGCCTTC	0.582																																							uc003lir.2		NA																	0				skin(1)	1						c.(1336-1338)GTCfs		protocadherin beta 6 precursor							104.0	108.0	107.0					5																	140531175		2203	4300	6503	SO:0001589	frameshift_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531175delT	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1337delT	5.37:g.140531175delT	ENSP00000231136:p.Val446fs					PCDHB6_uc011dah.1_Frame_Shift_Del_p.V310fs	p.V446fs	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1337	+			446			Cadherin 4.|Extracellular (Potential).		B2R8R9	Frame_Shift_Del	DEL	ENST00000231136.1	37	c.1337delT	CCDS4248.1																																																																																				0.582	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		47	156	NA	NA	NA	NA	NA	47	156	---	---	---	---
C1QTNF2	114898	broad.mit.edu	37	5	159797634	159797635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:159797634_159797635insG	ENST00000393975.3	-	1	13_14	c.10_11insC	c.(10-12)ctafs	p.L4fs		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	0					activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCAGGCATAGTTTTCCCATC	0.649																																							uc003lyd.2		NA																	0				skin(1)	1						c.(10-12)CTAfs		C1q and tumor necrosis factor related protein 2																																				SO:0001589	frameshift_variant	114898					collagen		g.chr5:159797634_159797635insG	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.11dupC	5.37:g.159797635_159797635dupG	ENSP00000377545:p.Leu4fs						p.L4fs	NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	14_15	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Error:Variant_position_missing_in_Q9BXJ5_after_alignment						Frame_Shift_Ins	INS	ENST00000393975.3	37	c.10_11insC	CCDS4351.2																																																																																				0.649	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			11	44	NA	NA	NA	NA	NA	11	44	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-	rs554145993		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:15496722delG	ENST00000341776.2	+	7	1510	c.1266delG	c.(1264-1266)gtgfs	p.V422fs	JARID2_ENST00000397311.3_Frame_Shift_Del_p.V250fs|JARID2_ENST00000541660.1_Frame_Shift_Del_p.V384fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	422					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAGGAGGTGGGGGGGCGGC	0.667																																							uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1264-1266)GTGfs		jumonji, AT rich interactive domain 2 protein							22.0	28.0	26.0					6																	15496722		2180	4275	6455	SO:0001589	frameshift_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496722delG	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1266delG	6.37:g.15496722delG	ENSP00000341280:p.Val422fs					JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	p.V422fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1510	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	422					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Frame_Shift_Del	DEL	ENST00000341776.2	37	c.1266delG	CCDS4533.1																																																																																				0.667	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		9	142	NA	NA	NA	NA	NA	9	142	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G	rs376133611		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccacafs	p.T5fs	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.T5fs|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.T5fs|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525																																							uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(10-15)CCCACAfs		KIAA0319 precursor																																				SO:0001589	frameshift_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24601319_24601320insG	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.13dupC	6.37:g.24601325_24601325dupG	ENSP00000367459:p.Thr5fs					KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.P4fs|KIAA0319_uc011djq.1_5'UTR|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.P4fs	p.P4fs	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			2	249_250	-			4_5					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Frame_Shift_Ins	INS	ENST00000378214.3	37	c.12_13insC	CCDS34348.1																																																																																				0.525	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		22	217	NA	NA	NA	NA	NA	22	217	---	---	---	---
NSMCE2	286053	broad.mit.edu	37	8	126194363	126194364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:126194363_126194364insA	ENST00000287437.3	+	5	499_500	c.283_284insA	c.(283-285)gaafs	p.E95fs	NSMCE2_ENST00000522563.1_Frame_Shift_Ins_p.E95fs|NSMCE2_ENST00000517315.1_Frame_Shift_Ins_p.E35fs	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	95					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAACGTCCAGAAAAAATACCA	0.287																																							uc003yrw.2		NA																	0				breast(1)	1						c.(283-285)GAAfs		non-SMC element 2, MMS21 homolog																																				SO:0001589	frameshift_variant	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126194363_126194364insA	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.289dupA	8.37:g.126194369_126194369dupA	ENSP00000287437:p.Glu95fs					NSMCE2_uc003yrv.2_Frame_Shift_Ins_p.E95fs	p.E95fs	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		5	511_512	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		95					Q8N549	Frame_Shift_Ins	INS	ENST00000287437.3	37	c.283_284insA	CCDS6356.1																																																																																				0.287	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		18	186	NA	NA	NA	NA	NA	18	186	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14857620	14857621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:14857620_14857621insG	ENST00000380880.3	-	5	1541_1542	c.758_759insC	c.(757-759)cctfs	p.P253fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.P253fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.P253fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	253					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTTGGGTGAAGGGGGATCCAG	0.495																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(757-759)CCTfs		FRAS1 related extracellular matrix 1 precursor																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14857620_14857621insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.759dupC	9.37:g.14857625_14857625dupG	ENSP00000370262:p.Pro253fs					FREM1_uc010mic.2_RNA	p.P253fs	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	5	1348_1349	-			253					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.758_759insC	CCDS47952.1																																																																																				0.495	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		9	112	NA	NA	NA	NA	NA	9	112	---	---	---	---
PLIN2	123	broad.mit.edu	37	9	19119812	19119813	+	Frame_Shift_Ins	INS	-	-	T	rs550011861		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:19119812_19119813insT	ENST00000276914.2	-	6	791_792	c.612_613insA	c.(610-615)aaagttfs	p.V205fs	PLIN2_ENST00000411567.1_Frame_Shift_Ins_p.K161fs	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	205					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AATCCTTCAACTTTTTTTGCTT	0.431																																							uc003zno.2		NA																	0				ovary(2)	2						c.(610-615)AAAGTTfs		adipose differentiation-related protein																																				SO:0001589	frameshift_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19119812_19119813insT	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.613dupA	9.37:g.19119819_19119819dupT	ENSP00000276914:p.Val205fs					PLIN2_uc011lna.1_Frame_Shift_Ins_p.K176fs|PLIN2_uc011lnb.1_Frame_Shift_Ins_p.K161fs	p.K204fs	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			6	791_792	-			204_205					Q9BSC3	Frame_Shift_Ins	INS	ENST00000276914.2	37	c.612_613insA	CCDS6490.1																																																																																				0.431	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		8	102	NA	NA	NA	NA	NA	8	102	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50051702	50051703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:50051702_50051703insA	ENST00000376042.1	+	6	831_832	c.533_534insA	c.(532-537)ttaaaafs	p.LK178fs	CCNB3_ENST00000276014.7_Frame_Shift_Ins_p.LK178fs|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	178					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCATTATCTTTAAAAAAGTGCT	0.426																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(532-534)TTAfs		cyclin B3 isoform 3																																				SO:0001589	frameshift_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051702_50051703insA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.539dupA	X.37:g.50051708_50051708dupA	ENSP00000365210:p.Leu178fs					CCNB3_uc004doy.2_Frame_Shift_Ins_p.L178fs|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.L178fs	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	831_832	+	Ovarian(276;0.236)		178					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Ins	INS	ENST00000376042.1	37	c.533_534insA	CCDS14331.1																																																																																				0.426	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			20	34	NA	NA	NA	NA	NA	20	34	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153042690	153042691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:153042690_153042691insG	ENST00000361971.5	+	30	5069_5070	c.4955_4956insG	c.(4954-4959)gaggggfs	p.EG1652fs	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.EG1305fs|PLXNB3_ENST00000538966.1_Frame_Shift_Ins_p.EG1675fs	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1652					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCGAGGAGGGGGGGGTGT	0.693																																							uc004fii.2		NA																	0				lung(1)	1						c.(4954-4956)GAGfs		plexin B3 isoform 1																																				SO:0001589	frameshift_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042690_153042691insG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4963dupG	X.37:g.153042698_153042698dupG	ENSP00000355378:p.Glu1652fs					PLXNB3_uc010nuk.2_Frame_Shift_Ins_p.E1675fs|PLXNB3_uc011mzd.1_Frame_Shift_Ins_p.E1291fs|SRPK3_uc004fik.2_5'UTR	p.E1652fs	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			30	5129_5130	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1652			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Ins	INS	ENST00000361971.5	37	c.4955_4956insG	CCDS14729.1																																																																																				0.693	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	3	NA	NA	NA	NA	NA	4	3	---	---	---	---
