#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPATA21	374955	broad.mit.edu	37	1	16727317	16727317	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:16727317G>A	ENST00000335496.1	-	11	1554	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	SPATA21_ENST00000540400.1_Missense_Mutation_p.R335W|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCTGCAACCGCAGCCGGCCT	0.582																																						uc001ayn.2		NA																	0				ovary(2)|breast(1)	3						c.(1072-1074)CGG>TGG		spermatogenesis associated 21							111.0	126.0	121.0					1																	16727317		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16727317G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1072C>T	1.37:g.16727317G>A	ENSP00000335612:p.Arg358Trp					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.R335W	p.R358W	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1555	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	358					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.1072C>T	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160838	0.38119	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.70749	0.65;-0.51;-0.51	3.93	3.93	0.45458	.	0.000000	0.42053	D	0.000764	T	0.64692	0.2621	M	0.74881	2.28	0.27454	N	0.953344	P;P	0.40638	0.725;0.462	B;B	0.30179	0.112;0.058	T	0.69304	-0.5180	10	0.87932	D	0	-18.1285	11.7581	0.51886	0.0:0.0:1.0:0.0	.	335;358	F5GXP5;Q7Z572	.;SPT21_HUMAN	W	66;358;335	ENSP00000420753:R66W;ENSP00000335612:R358W;ENSP00000440046:R335W	ENSP00000335612:R358W	R	-	1	2	SPATA21	16599904	0.571000	0.26659	0.994000	0.49952	0.524000	0.34500	1.021000	0.30040	2.480000	0.83734	0.650000	0.86243	CGG		0.582	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		6	264	0	0	0	0	6	264				
SASS6	163786	broad.mit.edu	37	1	100572486	100572486	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:100572486G>A	ENST00000287482.5	-	12	1530	c.1390C>T	c.(1390-1392)Cta>Tta	p.L464L	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.L297L	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	464					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTATTTTTTAGAAGTTGTTTG	0.289																																						uc001dsu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1390-1392)CTA>TTA		spindle assembly abnormal protein 6							76.0	77.0	77.0					1																	100572486		2190	4294	6484	SO:0001819	synonymous_variant	163786				centriole replication	centriole		g.chr1:100572486G>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1390C>T	1.37:g.100572486G>A						SASS6_uc009wdz.2_Silent_p.L297L	p.L464L	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	12	1531	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	464			Potential.		D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	37	c.1390C>T	CCDS764.1																																																																																				0.289	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		3	20	0	0	0	0	3	20				
STXBP3	6814	broad.mit.edu	37	1	109340774	109340774	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:109340774A>C	ENST00000370008.3	+	16	1414	c.1364A>C	c.(1363-1365)cAa>cCa	p.Q455P		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	455					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)		TAGTCTCAACAAGGCAAACCG	0.313																																						uc001dvy.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1363-1365)CAA>CCA		syntaxin binding protein 3							99.0	109.0	106.0					1																	109340774		2203	4300	6503	SO:0001583	missense	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.chr1:109340774A>C	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.1364A>C	1.37:g.109340774A>C	ENSP00000359025:p.Gln455Pro					STXBP3_uc001dvz.2_RNA	p.Q455P	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)	16	1439	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	455					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1364A>C	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756832	0.31137	.	.	ENSG00000116266	ENST00000370008	T	0.76839	-1.05	5.5	5.5	0.81552	.	0.114446	0.64402	D	0.000009	T	0.46814	0.1412	N	0.10782	0.045	0.49483	D	0.999792	B	0.13145	0.007	B	0.15052	0.012	T	0.48896	-0.8994	10	0.34782	T	0.22	-15.0471	14.179	0.65562	1.0:0.0:0.0:0.0	.	455	O00186	STXB3_HUMAN	P	455	ENSP00000359025:Q455P	ENSP00000359025:Q455P	Q	+	2	0	STXBP3	109142297	1.000000	0.71417	0.962000	0.40283	0.418000	0.31294	6.385000	0.73182	2.093000	0.63338	0.377000	0.23210	CAA		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		29	113	0	0	0	0	29	113				
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:114680442C>T	ENST00000610222.1	-	3	892	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H|SYT6_ENST00000393296.1_Missense_Mutation_p.R249H|SYT6_ENST00000609117.1_Missense_Mutation_p.R164H|SYT6_ENST00000607941.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CTTCAGGATACGCACAATCAG	0.542													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		23094	0.0		0.001	False		,,,				2504	0.0					uc001eev.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(490-492)CGT>CAT		synaptotagmin VI		C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	162.0	140.0	148.0		491	4.7	1.0	1	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SYT6	NM_205848.2	29	0,10,6493	TT,TC,CC		0.0698,0.0908,0.0769	probably-damaging	164/426	114680442	10,12996	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680442C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.746G>A	1.37:g.114680442C>T	ENSP00000476396:p.Arg249His						p.R164H	NM_205848	NP_995320	Q5T7P8	SYT6_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)	3	741	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	249			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.491G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.69	2.611532	0.46631	9.08E-4	6.98E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.222251	0.44285	D	0.000462	T	0.37293	0.0998	N	0.17838	0.53	0.44030	D	0.996757	B	0.32829	0.386	B	0.31869	0.137	T	0.40887	-0.9539	10	0.41790	T	0.15	.	14.7542	0.69552	0.0:0.9308:0.0:0.0692	.	249	Q5T7P8	SYT6_HUMAN	H	164;249;164;249	ENSP00000358560:R164H;ENSP00000376974:R249H;ENSP00000358559:R164H;ENSP00000358558:R249H	ENSP00000358558:R249H	R	-	2	0	SYT6	114481965	0.903000	0.30736	1.000000	0.80357	0.826000	0.46750	1.884000	0.39668	1.397000	0.46682	-0.119000	0.15052	CGT		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		32	89	0	0	0	0	32	89				
PTGFRN	5738	broad.mit.edu	37	1	117492010	117492010	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:117492010G>A	ENST00000393203.2	+	4	1176	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	343	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S343S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGCACAGCTCGCCTCATGTTG	0.572																																						uc001egv.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	liver(1)	1						c.(1027-1029)TCG>TCA		prostaglandin F2 receptor negative regulator							119.0	97.0	104.0					1																	117492010		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117492010G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1029G>A	1.37:g.117492010G>A							p.S343S	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1166	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	343			Ig-like C2-type 3.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.1029G>A	CCDS890.1																																																																																				0.572	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		11	89	0	0	0	0	11	89				
HIST2H2AC	8338	broad.mit.edu	37	1	149858559	149858559	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:149858559G>C	ENST00000331380.2	+	1	35	c.35G>C	c.(34-36)cGc>cCc	p.R12P	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582																																						uc001etd.2		NA																	0				ovary(1)|skin(1)	2						c.(34-36)CGC>CCC		histone cluster 2, H2ac							78.0	86.0	83.0					1																	149858559		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858559G>C	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.35G>C	1.37:g.149858559G>C	ENSP00000332194:p.Arg12Pro					HIST2H2BE_uc001etc.2_5'Flank	p.R12P	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	35	+	Breast(34;0.0124)|all_hematologic(923;0.127)		12					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.35G>C	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294611	0.40594	.	.	ENSG00000184260	ENST00000331380	T	0.44881	0.91	5.81	4.88	0.63580	Histone-fold (2);Histone H2A (1);	0.000000	0.44688	D	0.000428	T	0.33381	0.0861	M	0.77486	2.375	0.45108	D	0.998125	B	0.19331	0.035	B	0.10450	0.005	T	0.39396	-0.9616	10	0.87932	D	0	.	15.5214	0.75869	0.0:0.139:0.861:0.0	.	12	Q16777	H2A2C_HUMAN	P	12	ENSP00000332194:R12P	ENSP00000332194:R12P	R	+	2	0	HIST2H2AC	148125183	0.975000	0.34042	0.995000	0.50966	0.931000	0.56810	5.589000	0.67523	1.424000	0.47217	0.655000	0.94253	CGC		0.582	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		12	128	0	0	0	0	12	128				
THEM5	284486	broad.mit.edu	37	1	151824773	151824773	+	Missense_Mutation	SNP	G	G	A	rs376299585		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:151824773G>A	ENST00000368817.5	-	2	417	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	96					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGAGTCCCCGGATGTGGTCT	0.542																																						uc009wnd.2		NA																	0				ovary(1)|skin(1)	2						c.(286-288)CGG>TGG		thioesterase superfamily member 5		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	117.0	122.0		286	3.2	0.1	1		122	0,8600		0,0,4300	no	missense	THEM5	NM_182578.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/248	151824773	1,13005	2203	4300	6503	SO:0001583	missense	284486						hydrolase activity	g.chr1:151824773G>A	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.286C>T	1.37:g.151824773G>A	ENSP00000357807:p.Arg96Trp						p.R96W	NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	418	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		96					Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	c.286C>T	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	G	9.707	1.155996	0.21454	2.27E-4	0.0	ENSG00000196407	ENST00000368817	T	0.23348	1.91	5.28	3.18	0.36537	.	0.325900	0.28042	N	0.016823	T	0.08802	0.0218	L	0.40543	1.245	0.09310	N	1	D	0.56968	0.978	B	0.39660	0.306	T	0.05289	-1.0894	10	0.87932	D	0	-7.288	10.0561	0.42246	0.0861:0.0:0.769:0.1449	.	96	Q8N1Q8	THEM5_HUMAN	W	96	ENSP00000357807:R96W	ENSP00000357807:R96W	R	-	1	2	THEM5	150091397	0.476000	0.25901	0.062000	0.19696	0.038000	0.13279	0.567000	0.23608	0.626000	0.30322	-0.797000	0.03246	CGG		0.542	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		19	139	0	0	0	0	19	139				
NTRK1	4914	broad.mit.edu	37	1	156843527	156843527	+	Missense_Mutation	SNP	A	A	G	rs532851293		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:156843527A>G	ENST00000524377.1	+	8	994	c.953A>G	c.(952-954)aAt>aGt	p.N318S	NTRK1_ENST00000392302.2_Missense_Mutation_p.N288S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N318S|NTRK1_ENST00000368196.3_Missense_Mutation_p.N318S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	318	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGGCTCTTCAATGGCTCCGTG	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(952-954)AAT>AGT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						36.0	31.0	32.0					1																	156843527		2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843527A>G	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.953A>G	1.37:g.156843527A>G	ENSP00000431418:p.Asn318Ser	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.N288S|NTRK1_uc009wsi.1_Missense_Mutation_p.N23S|NTRK1_uc001fqi.1_Missense_Mutation_p.N318S|NTRK1_uc009wsk.1_Missense_Mutation_p.N318S	p.N318S	NM_002529	NP_002520	P04629	NTRK1_HUMAN			8	1009	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		318			Ig-like C2-type 2.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.953A>G	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083997	0.94100	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.42471	0.1204	M	0.78456	2.415	0.80722	D	1	P;D;D;D	0.60575	0.728;0.988;0.982;0.959	P;P;P;P	0.50490	0.495;0.642;0.633;0.617	T	0.50533	-0.8817	10	0.72032	D	0.01	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	318;318;318;288	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	288;318;318;318	ENSP00000376120:N288S;ENSP00000357179:N318S;ENSP00000431418:N318S;ENSP00000351486:N318S	ENSP00000351486:N318S	N	+	2	0	NTRK1	155110151	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	7.318000	0.79029	2.371000	0.80710	0.533000	0.62120	AAT		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		5	27	0	0	0	0	5	27				
RNASEL	6041	broad.mit.edu	37	1	182554927	182554927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182554927G>A	ENST00000367559.3	-	2	1268	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	RNASEL_ENST00000444138.1_Nonsense_Mutation_p.Q339*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.Q339*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	339					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGTGAGCTCTGAGGCTTCCAG	0.463																																						uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(1015-1017)CAG>TAG		ribonuclease L							48.0	51.0	50.0					1																	182554927		2203	4300	6503	SO:0001587	stop_gained	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554927G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1015C>T	1.37:g.182554927G>A	ENSP00000356530:p.Gln339*					RNASEL_uc009wxz.1_Nonsense_Mutation_p.Q339*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.Q339*|RNASEL_uc009wya.1_Nonsense_Mutation_p.Q339*	p.Q339*	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	1182	-			339					Q5W0L2|Q6AI46	Nonsense_Mutation	SNP	ENST00000367559.3	37	c.1015C>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886710	0.97068	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	.	.	.	5.8	3.75	0.43078	.	0.386281	0.24945	N	0.034354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-20.8884	8.2785	0.31887	0.1527:0.0:0.6776:0.1697	.	.	.	.	X	339	.	ENSP00000356530:Q339X	Q	-	1	0	RNASEL	180821550	0.983000	0.35010	0.358000	0.25811	0.156000	0.22039	0.704000	0.25661	1.465000	0.48006	0.650000	0.86243	CAG		0.463	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		11	84	0	0	0	0	11	84				
DHX9	1660	broad.mit.edu	37	1	182812531	182812531	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182812531A>G	ENST00000367549.3	+	3	324	c.214A>G	c.(214-216)Ata>Gta	p.I72V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	72	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTTGGTTCGAATAAATGAAAT	0.378																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NA																	0				ovary(2)	2						c.(214-216)ATA>GTA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							120.0	115.0	117.0					1																	182812531		1829	4081	5910	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812531A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.214A>G	1.37:g.182812531A>G	ENSP00000356520:p.Ile72Val					DHX9_uc001gps.2_5'UTR	p.I72V	NM_001357	NP_001348	Q08211	DHX9_HUMAN			3	377	+			72			Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.214A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.646064	0.29246	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.03496	3.91	5.63	3.04	0.35103	.	0.193016	0.43416	N	0.000580	T	0.02012	0.0063	N	0.12569	0.235	0.27506	N	0.951832	B	0.02656	0.0	B	0.04013	0.001	T	0.43653	-0.9378	10	0.22706	T	0.39	.	5.0175	0.14345	0.6176:0.0:0.3824:0.0	.	72	Q08211	DHX9_HUMAN	V	72	ENSP00000356520:I72V	ENSP00000356520:I72V	I	+	1	0	DHX9	181079154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.086000	0.41643	1.076000	0.40961	0.533000	0.62120	ATA		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	74	0	0	0	0	7	74				
HMCN1	83872	broad.mit.edu	37	1	186136045	186136045	+	Missense_Mutation	SNP	G	G	A	rs148826584		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:186136045G>A	ENST00000271588.4	+	100	15774	c.15545G>A	c.(15544-15546)cGa>cAa	p.R5182Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5182Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5182	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						AGTGGCTTTCGAAGAACCTCT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19319	0.0		0.001	False		,,,				2504	0.0					uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(15544-15546)CGA>CAA		hemicentin 1 precursor		G	GLN/ARG	0,4406		0,0,2203	197.0	172.0	181.0		15545	5.4	1.0	1	dbSNP_134	181	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	5182/5636	186136045	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136045G>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.15545G>A	1.37:g.186136045G>A	ENSP00000271588:p.Arg5182Gln					HMCN1_uc001grs.1_Missense_Mutation_p.R751Q	p.R5182Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			100	15774	+			5182			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15545G>A	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.5	4.839751	0.91117	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87179	-2.22;-2.22	5.39	5.39	0.77823	EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	N	0.25245	0.725	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88845	0.3315	10	0.38643	T	0.18	.	19.5232	0.95194	0.0:0.0:1.0:0.0	.	5182	Q96RW7	HMCN1_HUMAN	Q	5182	ENSP00000271588:R5182Q;ENSP00000356462:R5182Q	ENSP00000271588:R5182Q	R	+	2	0	HMCN1	184402668	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	5.141000	0.64814	2.677000	0.91161	0.655000	0.94253	CGA		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	68	0	0	0	0	10	68				
BTG2	7832	broad.mit.edu	37	1	203276431	203276431	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:203276431G>A	ENST00000290551.4	+	2	413	c.342G>A	c.(340-342)ggG>ggA	p.G114G	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	114					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACCGCATTGGGGAGGACGGCT	0.667																																						uc001gzq.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(340-342)GGG>GGA		B-cell translocation gene 2							54.0	56.0	55.0					1																	203276431		2203	4300	6503	SO:0001819	synonymous_variant	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276431G>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.342G>A	1.37:g.203276431G>A						FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.G114G	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	413	+			114					A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	c.342G>A	CCDS1437.1																																																																																				0.667	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		15	81	0	0	0	0	15	81				
CD34	947	broad.mit.edu	37	1	208061164	208061164	+	Silent	SNP	A	A	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:208061164A>T	ENST00000310833.7	-	8	1398	c.1077T>A	c.(1075-1077)gcT>gcA	p.A359A	CD34_ENST00000356522.4_3'UTR|CD34_ENST00000537704.1_Silent_p.A224A|CD34_ENST00000367036.3_Silent_p.A201A|CD34_ENST00000485761.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	359					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CGTTTTCCTGAGCCCCTCGGT	0.592																																						uc001hgw.1		NA																	0				ovary(1)	1						c.(1075-1077)GCT>GCA		CD34 antigen isoform a							114.0	96.0	102.0					1																	208061164		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208061164A>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.1077T>A	1.37:g.208061164A>T						CD34_uc001hgv.1_Silent_p.A201A|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.A224A	p.A359A	NM_001025109	NP_001020280	P28906	CD34_HUMAN			8	1335	-			359			Cytoplasmic (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.1077T>A	CCDS31011.1																																																																																				0.592	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	53	0	0	0	0	5	53				
TTC13	79573	broad.mit.edu	37	1	231060684	231060684	+	Missense_Mutation	SNP	C	C	T	rs200301610		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:231060684C>T	ENST00000366661.4	-	14	1631	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	TTC13_ENST00000414259.1_Missense_Mutation_p.V489M|TTC13_ENST00000366662.4_Missense_Mutation_p.V489M	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	542										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTACGCTGCACGGCTTGCATG	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20655	0.0		0.0	False		,,,				2504	0.0					uc001huf.3		NA																	0				ovary(1)|skin(1)	2						c.(1624-1626)GTG>ATG		tetratricopeptide repeat domain 13 isoform a		C	MET/VAL,MET/VAL	0,4406		0,0,2203	183.0	151.0	162.0		1465,1624	5.5	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC13	NM_001122835.2,NM_024525.4	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	489/807,542/861	231060684	1,13005	2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231060684C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1624G>A	1.37:g.231060684C>T	ENSP00000355621:p.Val542Met					TTC13_uc009xfi.2_Missense_Mutation_p.V489M|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.V489M|TTC13_uc009xfk.1_Missense_Mutation_p.V432M	p.V542M	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	14	1655	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	542					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1624G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	9.402	1.078339	0.20227	0.0	1.16E-4	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.35236	1.32;1.32;1.32	5.47	5.47	0.80525	.	0.095808	0.64402	D	0.000001	T	0.18800	0.0451	N	0.11560	0.145	0.40504	D	0.980678	B;B;B;B	0.29253	0.065;0.181;0.239;0.188	B;B;B;B	0.18263	0.006;0.01;0.021;0.006	T	0.08106	-1.0738	10	0.37606	T	0.19	-18.4624	11.064	0.47964	0.1435:0.7181:0.1384:0.0	.	467;489;489;542	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	M	542;489;489	ENSP00000355621:V542M;ENSP00000355622:V489M;ENSP00000416631:V489M	ENSP00000355621:V542M	V	-	1	0	TTC13	229127307	0.994000	0.37717	0.988000	0.46212	0.128000	0.20619	2.445000	0.44899	2.726000	0.93360	0.655000	0.94253	GTG		0.463	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		24	101	0	0	0	0	24	101				
OR2T2	401992	broad.mit.edu	37	1	248616314	248616314	+	Silent	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616314C>A	ENST00000342927.3	+	1	238	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TCATGGATACCATCTACATCT	0.512																																						uc001iek.1		NA																	0				skin(1)	1						c.(214-216)ACC>ACA		olfactory receptor, family 2, subfamily T,							128.0	142.0	137.0					1																	248616314		2202	4281	6483	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616314C>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.216C>A	1.37:g.248616314C>A							p.T72T	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	216	+	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)		72			Helical; Name=2; (Potential).		B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.216C>A	CCDS31116.1																																																																																				0.512	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		16	189	1	0	3.52e-12	4.38e-12	16	189				
OR2T2	401992	broad.mit.edu	37	1	248616457	248616457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616457C>A	ENST00000342927.3	+	1	381	c.359C>A	c.(358-360)gCc>gAc	p.A120D		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GGTCTCATGGCCTATGACCGC	0.547																																						uc001iek.1		NA																	0				skin(1)	1						c.(358-360)GCC>GAC		olfactory receptor, family 2, subfamily T,							107.0	122.0	117.0					1																	248616457		2203	4298	6501	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616457C>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.359C>A	1.37:g.248616457C>A	ENSP00000343062:p.Ala120Asp						p.A120D	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	359	+	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)		120			Helical; Name=3; (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.359C>A	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	15.43	2.831908	0.50845	.	.	ENSG00000196240	ENST00000342927	T	0.56103	0.48	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000212	T	0.79305	0.4423	H	0.96748	3.875	0.53005	D	0.99996	D	0.76494	0.999	D	0.63703	0.917	D	0.87030	0.2134	10	0.87932	D	0	.	14.176	0.65542	0.0:1.0:0.0:0.0	.	120	Q6IF00	OR2T2_HUMAN	D	120	ENSP00000343062:A120D	ENSP00000343062:A120D	A	+	2	0	OR2T2	246683080	0.995000	0.38212	0.992000	0.48379	0.141000	0.21300	3.368000	0.52357	1.838000	0.53458	0.298000	0.19748	GCC		0.547	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		12	130	1	0	5.01e-05	5.96e-05	12	130				
PFKFB3	5209	broad.mit.edu	37	10	6255710	6255710	+	Splice_Site	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:6255710A>G	ENST00000379775.4	+	2	531	c.201A>G	c.(199-201)aaA>aaG	p.K67K	PFKFB3_ENST00000360521.2_Splice_Site_p.K67K|PFKFB3_ENST00000379782.3_Splice_Site_p.K67K|PFKFB3_ENST00000540253.1_Splice_Site_p.K81K|PFKFB3_ENST00000317350.4_Splice_Site_p.K67K|PFKFB3_ENST00000379785.1_Splice_Site_p.K67K|PFKFB3_ENST00000379789.4_Splice_Site_p.K47K|PFKFB3_ENST00000536985.1_Splice_Site_p.K47K	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	67	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCCCCACAAAAGGTGAGACTG	0.612																																						uc001ije.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(199-201)AAA>AAG		6-phosphofructo-2-kinase/fructose-2,							111.0	103.0	106.0					10																	6255710		2203	4300	6503	SO:0001630	splice_region_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6255710A>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.202+1A>G	10.37:g.6255710A>G						PFKFB3_uc001ijd.2_Silent_p.K47K|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.K81K|PFKFB3_uc001ijf.2_Silent_p.K67K	p.K67K	NM_004566	NP_004557	Q16875	F263_HUMAN			2	585	+			67			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.201A>G	CCDS7078.1																																																																																				0.612	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1		Silent	3	158	0	0	0	0	3	158				
PCDH15	65217	broad.mit.edu	37	10	55600185	55600185	+	Missense_Mutation	SNP	C	C	A	rs536702239		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:55600185C>A	ENST00000320301.6	-	29	4272	c.3878G>T	c.(3877-3879)cGg>cTg	p.R1293L	PCDH15_ENST00000395445.1_Missense_Mutation_p.R1300L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1300L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1222L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1271L|PCDH15_ENST00000409834.1_Missense_Mutation_p.R904L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1298L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1293L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1256L|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1293					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)				ATCTCCATGCCGGCGAGCTCC	0.448										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3877-3879)CGG>CTG		protocadherin 15 isoform CD1-4 precursor							120.0	110.0	113.0					10																	55600185		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.chr10:55600185C>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.3878G>T	10.37:g.55600185C>A	ENSP00000322604:p.Arg1293Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R1298L|PCDH15_uc010qhr.1_Missense_Mutation_p.R1293L|PCDH15_uc010qhs.1_Missense_Mutation_p.R1305L|PCDH15_uc010qht.1_Missense_Mutation_p.R1300L|PCDH15_uc010qhu.1_Missense_Mutation_p.R1293L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1293L|PCDH15_uc010qhw.1_Missense_Mutation_p.R1256L|PCDH15_uc010qhx.1_Missense_Mutation_p.R1222L|PCDH15_uc010qhy.1_Missense_Mutation_p.R1298L|PCDH15_uc010qhz.1_Missense_Mutation_p.R1293L|PCDH15_uc010qia.1_Missense_Mutation_p.R1271L|PCDH15_uc010qib.1_Missense_Mutation_p.R1271L	p.R1293L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			29	4273	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1293			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3878G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717191	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59083	0.44;0.48;0.43;0.44;0.39;0.33;0.3;0.36;0.31;0.31;0.29	5.43	5.43	0.79202	.	.	.	.	.	T	0.69762	0.3147	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0;1.0;0.997;1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.999;0.993;0.973;0.999;0.999;0.996;0.998;0.981;0.981;0.998;0.999;0.993	T	0.71692	-0.4516	9	0.72032	D	0.01	.	19.1946	0.93682	0.0:1.0:0.0:0.0	.	1271;1293;1293;1298;1222;1256;1293;1293;1300;1300;1293;1298;1293	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	1300;1298;1293;1293;904;1300;1256;1293;1271;1293;1293;1298;1222	ENSP00000363076:R1300L;ENSP00000410304:R1298L;ENSP00000378826:R1293L;ENSP00000386693:R904L;ENSP00000378832:R1300L;ENSP00000378820:R1256L;ENSP00000354950:R1293L;ENSP00000378821:R1271L;ENSP00000322604:R1293L;ENSP00000378818:R1293L;ENSP00000412628:R1222L	ENSP00000322604:R1293L	R	-	2	0	PCDH15	55270191	0.998000	0.40836	0.992000	0.48379	0.930000	0.56654	4.826000	0.62715	2.703000	0.92315	0.579000	0.79373	CGG		0.448	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		11	71	1	0	0.00829132	0.00944551	11	71				
ARID5B	84159	broad.mit.edu	37	10	63829502	63829502	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:63829502G>A	ENST00000279873.7	+	8	1555	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	ARID5B_ENST00000309334.5_Missense_Mutation_p.G139D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	382	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATGAATTAGGCGGTAATCCT	0.403																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1144-1146)GGC>GAC		AT rich interactive domain 5B (MRF1-like)							59.0	58.0	58.0					10																	63829502		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63829502G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1145G>A	10.37:g.63829502G>A	ENSP00000279873:p.Gly382Asp					ARID5B_uc001jlu.1_Missense_Mutation_p.G139D	p.G382D	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			8	1171	+	Prostate(12;0.016)|all_hematologic(501;0.215)		382			ARID.		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1145G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506215	0.96386	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.68025	-0.3;-0.3	6.1	6.1	0.99115	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88031	0.2775	10	0.72032	D	0.01	-19.4731	20.7146	0.99709	0.0:0.0:1.0:0.0	.	139;382	Q14865-2;Q14865	.;ARI5B_HUMAN	D	382;139	ENSP00000279873:G382D;ENSP00000308862:G139D	ENSP00000279873:G382D	G	+	2	0	ARID5B	63499508	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.294000	0.96088	2.902000	0.99343	0.650000	0.86243	GGC		0.403	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		12	58	0	0	0	0	12	58				
ZNF503	84858	broad.mit.edu	37	10	77160129	77160129	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:77160129C>G	ENST00000372524.4	-	2	805	c.319G>C	c.(319-321)Gat>Cat	p.D107H	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.D107H|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503-AS2_ENST00000425916.3_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	107					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTCTTGGCATCGAGCTGCGGG	0.597																																						uc001jxg.2		NA																	0				ovary(1)	1						c.(319-321)GAT>CAT		zinc finger protein 503							15.0	20.0	19.0					10																	77160129		2182	4269	6451	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77160129C>G	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.319G>C	10.37:g.77160129C>G	ENSP00000361602:p.Asp107His					C10orf41_uc010qlf.1_5'Flank	p.D107H	NM_032772	NP_116161	Q96F45	ZN503_HUMAN			2	655	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		107					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.319G>C	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712333	0.89112	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.69806	-0.43;-0.43	4.29	4.29	0.51040	.	0.054979	0.64402	D	0.000001	T	0.72309	0.3444	L	0.50333	1.59	0.80722	D	1	D	0.61697	0.99	P	0.54431	0.752	T	0.77199	-0.2675	10	0.87932	D	0	-1.9133	16.5425	0.84405	0.0:1.0:0.0:0.0	.	107	Q96F45	ZN503_HUMAN	H	107	ENSP00000361602:D107H;ENSP00000438988:D107H	ENSP00000361594:D107H	D	-	1	0	ZNF503	76830135	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.063000	0.76714	2.204000	0.70986	0.643000	0.83706	GAT		0.597	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		8	45	0	0	0	0	8	45				
MUC5AC	4586	broad.mit.edu	37	11	1156593	1156593	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:1156593G>A	ENST00000356191.2	+	9	604	c.604G>A	c.(604-606)Gcc>Acc	p.A202T				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	204	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CACCAAATACGCCAACAAGAC	0.607																																						uc009ycr.1		NA																	0					0						c.(610-612)GCC>ACC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							139.0	132.0	134.0					11																	1156593		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1156593G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.604G>A	11.37:g.1156593G>A	ENSP00000348519:p.Ala202Thr						p.A204T	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)	7	736	+		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)	200			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.610G>A		.	.	.	.	.	.	.	.	.	.	g	0.547	-0.851192	0.02651	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.59364	0.27;1.99	3.27	0.139	0.14798	.	.	.	.	.	T	0.34658	0.0905	L	0.45422	1.42	.	.	.	P	0.39250	0.665	B	0.29942	0.109	T	0.33111	-0.9881	8	0.11794	T	0.64	.	3.0102	0.06042	0.2915:0.0:0.3864:0.3221	.	204	A7Y9J9	.	T	204;202	ENSP00000435591:A204T;ENSP00000348519:A202T	ENSP00000348519:A202T	A	+	1	0	MUC5AC	1146593	0.000000	0.05858	0.135000	0.22099	0.025000	0.11179	-0.481000	0.06552	-0.073000	0.12842	0.546000	0.68486	GCC		0.607	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		13	101	0	0	0	0	13	101				
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {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)		p.L2630P(1)|p.L2609P(1)		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)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0					uc009ycr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(9802-9804)CTT>CCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265999T>C	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.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro					MUC5B_uc001ltb.2_Missense_Mutation_p.L2633P	p.L3268P	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)	48	9929	+		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)	2630	Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9803T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	148	0	0	0	0	3	148				
CARS	833	broad.mit.edu	37	11	3038413	3038413	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3038413C>A	ENST00000397111.5	-	15	1836	c.1591G>T	c.(1591-1593)Gcc>Tcc	p.A531S	CARS_ENST00000401769.3_Missense_Mutation_p.A544S|CARS_ENST00000397114.3_Missense_Mutation_p.A521S|CARS_ENST00000380525.4_Missense_Mutation_p.A614S|CARS_ENST00000278224.9_Missense_Mutation_p.A531S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	531					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCTTTCCGGGCTGCCATATAG	0.577			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2		NA		Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				soft_tissue(5)|ovary(2)	7						c.(1591-1593)GCC>TCC		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						98.0	78.0	85.0					11																	3038413		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3038413C>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1591G>T	11.37:g.3038413C>A	ENSP00000380300:p.Ala531Ser					CARS_uc001lxe.2_Missense_Mutation_p.A521S|CARS_uc001lxf.2_Missense_Mutation_p.A614S|CARS_uc001lxg.2_Missense_Mutation_p.A531S|CARS_uc010qxo.1_Missense_Mutation_p.A614S|CARS_uc010qxp.1_Missense_Mutation_p.A544S	p.A531S	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	15	1665	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	531					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1591G>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	0.730	-0.780316	0.02929	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.41400	1.0;1.01;1.0;1.01;1.0	4.25	-1.09	0.09904	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.577357	0.18874	N	0.128747	T	0.15392	0.0371	N	0.12569	0.235	0.30625	N	0.758055	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001;0.001	T	0.34354	-0.9832	10	0.02654	T	1	-13.1445	4.6391	0.12540	0.139:0.4676:0.0:0.3935	.	544;614;531;531;614;521	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	614;531;531;521;544	ENSP00000369897:A614S;ENSP00000380300:A531S;ENSP00000278224:A531S;ENSP00000380303:A521S;ENSP00000384069:A544S	ENSP00000278224:A531S	A	-	1	0	CARS	2994989	0.005000	0.15991	0.507000	0.27676	0.554000	0.35429	0.062000	0.14389	-0.118000	0.11851	0.455000	0.32223	GCC		0.577	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		8	71	1	0	5.18e-06	6.2e-06	8	71				
NUP98	4928	broad.mit.edu	37	11	3697423	3697423	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3697423G>A	ENST00000324932.7	-	33	5789	c.5369C>T	c.(5368-5370)tCc>tTc	p.S1790F	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.S1716F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1807					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCGCAGATAGGACTGGGTAAG	0.587			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(5368-5370)TCC>TTC		nucleoporin 98kD isoform 1							70.0	64.0	66.0					11																	3697423		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697423G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5369C>T	11.37:g.3697423G>A	ENSP00000316032:p.Ser1790Phe					NUP98_uc001lyi.2_Missense_Mutation_p.S1716F|NUP98_uc001lyg.2_Missense_Mutation_p.S755F	p.S1790F	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5660	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1807					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5369C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460938	0.84317	.	.	ENSG00000110713	ENST00000324932;ENST00000355260	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000010	T	0.77054	0.4074	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.76575	0.964;0.988;0.939	T	0.77091	-0.2716	9	0.56958	D	0.05	-9.385	18.3324	0.90274	0.0:0.0:1.0:0.0	.	1716;1790;1704	P52948-2;P52948-5;P52948-6	.;.;.	F	1790;1716	.	ENSP00000316032:S1790F	S	-	2	0	NUP98	3653999	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.334000	0.96470	2.680000	0.91292	0.561000	0.74099	TCC		0.587	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	60	0	0	0	0	11	60				
TPH1	7166	broad.mit.edu	37	11	18054883	18054883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:18054883C>G	ENST00000250018.2	-	3	902	c.340G>C	c.(340-342)Gac>Cac	p.D114H	TPH1_ENST00000341556.2_Missense_Mutation_p.D114H	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	114					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTCCAGGTCAGAAATCTTC	0.328																																						uc001mnp.2		NA																	0					0						c.(340-342)GAC>CAC		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						154.0	158.0	156.0					11																	18054883		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18054883C>G	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.340G>C	11.37:g.18054883C>G	ENSP00000250018:p.Asp114His					TPH1_uc009yhe.2_RNA	p.D114H	NM_004179	NP_004170	P17752	TPH1_HUMAN			3	366	-			114					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.340G>C	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120136	0.77323	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99652	-6.3;-6.3;-6.3	5.59	5.59	0.84812	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97562	1.0099	10	0.87932	D	0	-24.0916	19.5955	0.95536	0.0:1.0:0.0:0.0	.	114	P17752	TPH1_HUMAN	H	114;114;124	ENSP00000250018:D114H;ENSP00000343550:D114H;ENSP00000436081:D124H	ENSP00000250018:D114H	D	-	1	0	TPH1	18011459	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	7.783000	0.85696	2.638000	0.89438	0.650000	0.86243	GAC		0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		21	157	0	0	0	0	21	157				
HRASLS2	54979	broad.mit.edu	37	11	63326093	63326093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:63326093G>A	ENST00000255695.1	-	3	216	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	53					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTTGGTCAGGGCAGACAGGAC	0.557																																						uc001nxg.1		NA																	0					0						c.(157-159)GCC>GTC		HRAS-like suppressor 2							168.0	140.0	150.0					11																	63326093		2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63326093G>A		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.158C>T	11.37:g.63326093G>A	ENSP00000255695:p.Ala53Val						p.A53V	NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN			3	217	-			53					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.158C>T	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159117	0.01686	.	.	ENSG00000133328	ENST00000255695	T	0.19806	2.12	3.59	-3.27	0.05048	.	0.922832	0.08839	N	0.886150	T	0.07773	0.0195	N	0.16233	0.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38090	-0.9677	10	0.06099	T	0.92	-30.2733	1.6843	0.02838	0.4661:0.1427:0.2463:0.1449	.	53	Q9NWW9	HRSL2_HUMAN	V	53	ENSP00000255695:A53V	ENSP00000255695:A53V	A	-	2	0	HRASLS2	63082669	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.684000	0.25364	-0.736000	0.04831	-0.470000	0.05040	GCC		0.557	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		4	162	0	0	0	0	4	162				
IGHMBP2	3508	broad.mit.edu	37	11	68701351	68701351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:68701351G>A	ENST00000255078.3	+	10	1618	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	503					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAGCTGGAGGAGGAGGACGA	0.562																																						uc001ook.1		NA																	0					0						c.(1507-1509)GAG>AAG		immunoglobulin mu binding protein 2							60.0	60.0	60.0					11																	68701351		2199	4294	6493	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68701351G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1507G>A	11.37:g.68701351G>A	ENSP00000255078:p.Glu503Lys					IGHMBP2_uc001ool.1_Missense_Mutation_p.E127K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E81K	p.E503K	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		10	1609	+			503					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1507G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.681018	0.03353	.	.	ENSG00000132740	ENST00000255078	D	0.81739	-1.53	4.84	2.79	0.32731	.	0.724998	0.13295	N	0.398691	T	0.75474	0.3854	L	0.58810	1.83	0.09310	N	0.999998	B	0.15930	0.015	B	0.23150	0.044	T	0.59423	-0.7457	10	0.15066	T	0.55	-25.1168	11.9299	0.52841	0.0:0.3373:0.6627:0.0	.	503	P38935	SMBP2_HUMAN	K	503	ENSP00000255078:E503K	ENSP00000255078:E503K	E	+	1	0	IGHMBP2	68457927	0.705000	0.27846	0.005000	0.12908	0.071000	0.16799	2.204000	0.42761	0.996000	0.38943	0.561000	0.74099	GAG		0.562	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		7	16	0	0	0	0	7	16				
MYO7A	4647	broad.mit.edu	37	11	76919561	76919561	+	Splice_Site	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:76919561C>T	ENST00000409709.3	+	43	6215	c.5943C>T	c.(5941-5943)gaC>gaT	p.D1981D	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Splice_Site_p.D1932D|MYO7A_ENST00000458637.2_Splice_Site_p.D1943D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1981	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATCAAGGACGGTAATGAGG	0.597																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(5941-5943)GAC>GAT		myosin VIIA isoform 1							47.0	47.0	47.0					11																	76919561		1944	4128	6072	SO:0001630	splice_region_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76919561C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5944+1C>T	11.37:g.76919561C>T						MYO7A_uc001oyc.2_Silent_p.D1943D|MYO7A_uc001oye.2_RNA	p.D1981D	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			43	6215	+			1981			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5943C>T	CCDS53683.1																																																																																				0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Silent	3	21	0	0	0	0	3	21				
SCN3B	55800	broad.mit.edu	37	11	123516409	123516410	+	Missense_Mutation	DNP	GG	GG	AA	rs368979661		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:123516409_123516410GG>AA	ENST00000392770.2	-	2	906_907	c.104_105CC>TT	c.(103-105)gCC>gTT	p.A35V	SCN3B_ENST00000530277.1_Missense_Mutation_p.A35V|SCN3B_ENST00000299333.3_Missense_Mutation_p.A35V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	35	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|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)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCCTGCACGGCCTCCGTCTC	0.629																																						uc001pza.1		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(103-105)GCC>GTT		voltage-gated sodium channel beta-3 subunit																																				SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516409_123516410GG>AA	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.104_105delinsAA	11.37:g.123516409_123516410delinsAA	ENSP00000376523:p.Ala35Val					SCN3B_uc001pzb.1_Missense_Mutation_p.A35V	p.A35V	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	511_512	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	35			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	DNP	ENST00000392770.2	37	c.104_105CC>TT	CCDS8442.1																																																																																				0.629	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		15	100	0	0	0	0	15	100				
GOLT1B	51026	broad.mit.edu	37	12	21668638	21668638	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:21668638A>G	ENST00000229314.5	+	5	523	c.414A>G	c.(412-414)gtA>gtG	p.V138V	GOLT1B_ENST00000535593.1_3'UTR|GOLT1B_ENST00000542038.1_Silent_p.V74V|GOLT1B_ENST00000540141.1_3'UTR	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	138					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						ACAATATGGTATAACAACAAG	0.264																																						uc001rez.2		NA																	0					0						c.(412-414)GTA>GTG		golgi transport 1 homolog B							65.0	71.0	69.0					12																	21668638		2198	4291	6489	SO:0001819	synonymous_variant	51026				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	g.chr12:21668638A>G	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.414A>G	12.37:g.21668638A>G						GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	p.V138V	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN			5	573	+			138			Cytoplasmic (Potential).		B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Silent	SNP	ENST00000229314.5	37	c.414A>G	CCDS8689.1																																																																																				0.264	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072		8	58	0	0	0	0	8	58				
ASB8	140461	broad.mit.edu	37	12	48543152	48543152	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:48543152T>C	ENST00000317697.3	-	4	1033	c.864A>G	c.(862-864)gaA>gaG	p.E288E	ASB8_ENST00000536549.1_Silent_p.E288E|ASB8_ENST00000537754.1_5'Flank	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	288	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCTCCGGCTATTCTAAAAGTA	0.517																																						uc001rrh.2		NA																	0				kidney(1)	1						c.(862-864)GAA>GAG		ankyrin repeat and SOCS box-containing 8							39.0	41.0	40.0					12																	48543152		2203	4300	6503	SO:0001819	synonymous_variant	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543152T>C	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.864A>G	12.37:g.48543152T>C						ASB8_uc010slr.1_Silent_p.E284E	p.E288E	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	1033	-			288			SOCS box.		A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.864A>G	CCDS8761.1																																																																																				0.517	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			6	50	0	0	0	0	6	50				
TUBA1B	10376	broad.mit.edu	37	12	49521800	49521800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:49521800C>A	ENST00000336023.5	-	4	1391	c.1297G>T	c.(1297-1299)Gag>Tag	p.E433*	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	433					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CCAACCTCCTCATAATCCTTC	0.517																																						uc001rtm.2		NA																	0					0						c.(1297-1299)GAG>TAG		tubulin, alpha, ubiquitous							127.0	135.0	132.0					12																	49521800		2203	4300	6503	SO:0001587	stop_gained	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49521800C>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1297G>T	12.37:g.49521800C>A	ENSP00000336799:p.Glu433*					TUBA1B_uc001rto.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtk.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtl.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtn.2_Nonsense_Mutation_p.E280*|uc010smg.1_5'UTR	p.E433*	NM_006082	NP_006073	P68363	TBA1B_HUMAN			4	1518	-			433					P04687|P05209|Q27I68|Q8WU19	Nonsense_Mutation	SNP	ENST00000336023.5	37	c.1297G>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	C	37	6.461122	0.97585	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	.	.	.	5.45	5.45	0.79879	.	0.000000	0.45606	U	0.000347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.058	0.89368	0.0:1.0:0.0:0.0	.	.	.	.	X	433;164	.	ENSP00000336799:E433X	E	-	1	0	TUBA1B	47808067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	2.571000	0.86741	0.650000	0.86243	GAG		0.517	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		29	168	1	0	1.89e-17	2.37e-17	29	168				
ESYT1	23344	broad.mit.edu	37	12	56524381	56524381	+	Missense_Mutation	SNP	G	G	A	rs202161347		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:56524381G>A	ENST00000394048.5	+	2	670	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.V136M|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.V136M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	136					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTTCCCAGACGTGGAAAAGGC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23181	0.0		0.0	False		,,,				2504	0.0					uc001sjq.2		NA																	0				ovary(4)|skin(1)	5						c.(406-408)GTG>ATG		extended synaptotagmin-like protein 1							182.0	163.0	169.0					12																	56524381		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56524381G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.406G>A	12.37:g.56524381G>A	ENSP00000377612:p.Val136Met					ESYT1_uc001sjr.2_Missense_Mutation_p.V136M	p.V136M	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			2	456	+			136					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.406G>A	CCDS8904.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.3	4.511237	0.85389	.	.	ENSG00000139641	ENST00000551790;ENST00000394048;ENST00000267113;ENST00000541590	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.57	4.57	0.56435	.	0.281974	0.34338	N	0.004045	D	0.92113	0.7500	M	0.68952	2.095	0.51012	D	0.999906	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.94	D	0.91106	0.4918	10	0.41790	T	0.15	-6.9023	10.252	0.43375	0.0936:0.0:0.9064:0.0	.	136;136	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	M	15;136;136;136	ENSP00000447756:V15M;ENSP00000377612:V136M;ENSP00000267113:V136M;ENSP00000445952:V136M	ENSP00000267113:V136M	V	+	1	0	ESYT1	54810648	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.062000	0.76706	2.277000	0.76020	0.563000	0.77884	GTG		0.507	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		12	76	0	0	0	0	12	76				
TMEM19	55266	broad.mit.edu	37	12	72091109	72091109	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:72091109A>G	ENST00000266673.5	+	4	1026	c.432A>G	c.(430-432)acA>acG	p.T144T	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Silent_p.T144T	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	144						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGTACCCACAGAACTGGCCC	0.468																																						uc001sws.2		NA																	0					0						c.(430-432)ACA>ACG		transmembrane protein 19							106.0	110.0	109.0					12																	72091109		2203	4300	6503	SO:0001819	synonymous_variant	55266					integral to membrane		g.chr12:72091109A>G	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.432A>G	12.37:g.72091109A>G						TMEM19_uc001swr.1_Silent_p.T130T|TMEM19_uc009zru.1_RNA	p.T144T	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	4	1015	+		Breast(359;0.0889)	144					B2RDL2|Q53FY3|Q9NV41	Silent	SNP	ENST00000266673.5	37	c.432A>G	CCDS9002.1																																																																																				0.468	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		27	128	0	0	0	0	27	128				
PWP1	11137	broad.mit.edu	37	12	108102726	108102726	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:108102726A>G	ENST00000412830.3	+	12	1269	c.1101A>G	c.(1099-1101)gtA>gtG	p.V367V	PWP1_ENST00000541166.1_Silent_p.V305V	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	367					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGGCTTTGTATATAATTTGG	0.368																																						uc001tmo.1		NA																	0					0						c.(1099-1101)GTA>GTG		periodic tryptophan protein 1							119.0	107.0	111.0					12																	108102726		2203	4300	6503	SO:0001819	synonymous_variant	11137				transcription, DNA-dependent	nucleus		g.chr12:108102726A>G	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1101A>G	12.37:g.108102726A>G						PWP1_uc009zuu.1_Silent_p.V367V	p.V367V	NM_007062	NP_008993	Q13610	PWP1_HUMAN			12	1188	+			367					A8K3R6|Q7Z3X9	Silent	SNP	ENST00000412830.3	37	c.1101A>G	CCDS9114.1																																																																																				0.368	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		5	34	0	0	0	0	5	34				
TMEM132B	114795	broad.mit.edu	37	12	126139185	126139185	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:126139185T>A	ENST00000299308.3	+	9	3174	c.3166T>A	c.(3166-3168)Tgc>Agc	p.C1056S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.C568S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1056						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)		CAAGTGGGTCTGCCAAGATAT	0.473																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(3166-3168)TGC>AGC		transmembrane protein 132B							77.0	71.0	73.0					12																	126139185		1872	4099	5971	SO:0001583	missense	114795					integral to membrane		g.chr12:126139185T>A	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.3166T>A	12.37:g.126139185T>A	ENSP00000299308:p.Cys1056Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.C568S	p.C1056S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3174	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1056			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.3166T>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410045	0.83340	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.34667	1.78;1.35	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	P	0.59357	0.856	T	0.61138	-0.7123	10	0.87932	D	0	.	16.1691	0.81790	0.0:0.0:0.0:1.0	.	1056	Q14DG7	T132B_HUMAN	S	1056;568	ENSP00000299308:C1056S;ENSP00000440436:C568S	ENSP00000299308:C1056S	C	+	1	0	TMEM132B	124705138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.213000	0.71641	0.533000	0.62120	TGC		0.473	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	75	0	0	0	0	4	75				
SPERT	220082	broad.mit.edu	37	13	46287817	46287817	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:46287817G>A	ENST00000310521.1	+	3	737	c.657G>A	c.(655-657)ctG>ctA	p.L219L	SPERT_ENST00000378966.3_Silent_p.L183L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	219						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCACTGCTGCACAAAGACA	0.657																																						uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(655-657)CTG>CTA		spermatid associated							41.0	39.0	40.0					13																	46287817		2203	4300	6503	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287817G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.657G>A	13.37:g.46287817G>A						SPERT_uc001vao.2_Silent_p.L183L	p.L219L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	737	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	219					A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.657G>A	CCDS9399.1																																																																																				0.657	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		4	47	0	0	0	0	4	47				
LPAR6	10161	broad.mit.edu	37	13	48985944	48985944	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:48985944T>C	ENST00000378434.4	-	7	2240	c.616A>G	c.(616-618)Atg>Gtg	p.M206V	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M206V	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTAGCACCATACTAGAACAA	0.284																																						uc010acu.2		NA																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(616-618)ATG>GTG		G-protein coupled purinergic receptor P2Y5							40.0	42.0	42.0					13																	48985944		2201	4299	6500	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985944T>C	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.616A>G	13.37:g.48985944T>C	ENSP00000367691:p.Met206Val					RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.M206V|LPAR6_uc001vcf.2_Missense_Mutation_p.M206V	p.M206V	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	1710	-			206			Helical; Name=5; (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.616A>G	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	T	5.054	0.195706	0.09599	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.36340	1.26;1.26	5.89	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	N	0.21282	0.65	0.44825	D	0.997836	B	0.02656	0.0	B	0.09377	0.004	T	0.08207	-1.0733	10	0.13853	T	0.58	.	8.6411	0.33978	0.1273:0.0:0.1328:0.7399	.	206	P43657	LPAR6_HUMAN	V	206	ENSP00000367691:M206V;ENSP00000344353:M206V	ENSP00000344353:M206V	M	-	1	0	LPAR6	47883945	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.366000	0.34193	2.245000	0.73994	0.454000	0.30748	ATG		0.284	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		5	38	0	0	0	0	5	38				
DIS3	22894	broad.mit.edu	37	13	73334727	73334727	+	Silent	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:73334727G>T	ENST00000377767.4	-	20	2833	c.2733C>A	c.(2731-2733)atC>atA	p.I911I	DIS3_ENST00000545453.1_Silent_p.I749I|DIS3_ENST00000377780.4_Silent_p.I881I	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	911					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGTCTAACATGATTTTCACTT	0.333										Multiple Myeloma(4;0.011)																												uc001vix.3		NA																	0				central_nervous_system(1)	1						c.(2731-2733)ATC>ATA		DIS3 mitotic control isoform a							124.0	114.0	118.0					13																	73334727		2203	4299	6502	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73334727G>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2733C>A	13.37:g.73334727G>T		Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Silent_p.I881I|DIS3_uc001viz.2_RNA	p.I911I	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	20	3107	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	911					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.2733C>A	CCDS9447.1																																																																																				0.333	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		12	57	1	0	6.4e-05	7.57e-05	12	57				
CARS2	79587	broad.mit.edu	37	13	111299462	111299462	+	Silent	SNP	C	C	T	rs545957777		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:111299462C>T	ENST00000257347.4	-	11	1242	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	393					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCCACAGCATCGCTTCCCTGA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17306	0.001		0.0	False		,,,				2504	0.0					uc001vrd.2		NA																	0					0						c.(1177-1179)GCG>GCA		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)						32.0	27.0	29.0					13																	111299462		2200	4300	6500	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111299462C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1179G>A	13.37:g.111299462C>T						CARS2_uc010tjm.1_RNA	p.A393A	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		11	1219	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		393					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.1179G>A	CCDS9514.1																																																																																				0.672	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		3	14	0	0	0	0	3	14				
TEX29	121793	broad.mit.edu	37	13	111973249	111973249	+	Silent	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:111973249G>T	ENST00000283547.1	+	2	141	c.12G>T	c.(10-12)gtG>gtT	p.V4V		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	4						integral component of membrane (GO:0016021)											TGGAATACGTGCTGGAAGTGA	0.642																																						uc001vsa.2		NA																	0					0						c.(10-12)GTG>GTT		hypothetical protein LOC121793							80.0	84.0	83.0					13																	111973249		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111973249G>T	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.12G>T	13.37:g.111973249G>T							p.V4V	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		2	141	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		4			Extracellular (Potential).			Silent	SNP	ENST00000283547.1	37	c.12G>T	CCDS9522.1																																																																																				0.642	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		5	108	1	0	0.000602214	0.000702	5	108				
OSGEP	55644	broad.mit.edu	37	14	20917164	20917164	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs199582839		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:20917164G>A	ENST00000555656.1	-	0	1874				OSGEP_ENST00000554249.1_De_novo_Start_OutOfFrame|OSGEP_ENST00000556252.1_5'Flank|OSGEP_ENST00000206542.4_Silent_p.N172N|RP11-203M5.7_ENST00000555435.1_RNA					O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GACTTGGGTCGTTAGAAATCT	0.453													g|||	1	0.000199681	0.0	0.0	5008	,	,		21328	0.001		0.0	False		,,,				2504	0.0					uc001vxf.2		NA																	0					0						c.(514-516)AAC>AAT		O-sialoglycoprotein endopeptidase							174.0	177.0	176.0					14																	20917164		2203	4300	6503			55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20917164G>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000555656.1:c.-144C>T	14.37:g.20917164G>A							p.N172N	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	5	872	-	all_cancers(95;0.00123)	all_lung(585;0.235)	172						Silent	SNP	ENST00000555656.1	37	c.516C>T																																																																																					0.453	OSGEP-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000411041.1	NM_017807		21	198	0	0	0	0	21	198				
GMPR2	51292	broad.mit.edu	37	14	24702464	24702464	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:24702464C>T	ENST00000355299.4	+	2	466	c.5C>T	c.(4-6)cCt>cTt	p.P2L	GMPR2_ENST00000456667.3_Missense_Mutation_p.P2L|GMPR2_ENST00000399440.2_Missense_Mutation_p.P2L|GMPR2_ENST00000559104.1_Missense_Mutation_p.P20L|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000559836.1_Missense_Mutation_p.P2L|GMPR2_ENST00000559910.1_Missense_Mutation_p.P2L|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000557854.1_Missense_Mutation_p.P20L|GMPR2_ENST00000348719.7_Missense_Mutation_p.P2L|NEDD8-MDP1_ENST00000604306.1_5'Flank|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000420554.2_Missense_Mutation_p.P20L|NEDD8-MDP1_ENST00000534348.1_5'Flank	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	2					GMP metabolic process (GO:0046037)|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)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCGCCATGCCTCATATTGAC	0.517																																						uc001wnr.2		NA																	0				ovary(3)	3						c.(4-6)CCT>CTT		guanosine monophosphate reductase 2 isoform 2							292.0	283.0	286.0					14																	24702464		2032	4183	6215	SO:0001583	missense	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24702464C>T		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.5C>T	14.37:g.24702464C>T	ENSP00000347449:p.Pro2Leu					NEDD8_uc001wnn.2_5'Flank|NEDD8_uc001wno.2_5'Flank|NEDD8_uc001wnp.2_5'Flank|GMPR2_uc001wnq.1_Missense_Mutation_p.P2L|GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Missense_Mutation_p.P2L|GMPR2_uc001wnt.2_Missense_Mutation_p.P2L|GMPR2_uc001wnu.2_5'UTR|GMPR2_uc001wnw.2_Missense_Mutation_p.P2L|GMPR2_uc010all.2_Missense_Mutation_p.P2L|GMPR2_uc001wnx.2_Missense_Mutation_p.P20L|GMPR2_uc010tod.1_Missense_Mutation_p.P2L|GMPR2_uc010alk.1_Missense_Mutation_p.P2L|GMPR2_uc010toe.1_Missense_Mutation_p.P2L	p.P2L	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	387	+			2					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.5C>T	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313854	0.95655	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.20881	2.23;2.19;2.23;2.08;2.04	5.12	5.12	0.69794	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.67700	2.07	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	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.41142	-0.9525	10	0.87932	D	0	-4.7807	17.8449	0.88727	0.0:1.0:0.0:0.0	.	2;2;20;2;2	Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;GMPR2_HUMAN	L	2;2;20;2;2;2	ENSP00000347449:P2L;ENSP00000392859:P20L;ENSP00000382369:P2L;ENSP00000334409:P2L;ENSP00000405743:P2L	ENSP00000334409:P2L	P	+	2	0	GMPR2	23772304	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.751000	0.74893	2.817000	0.96982	0.563000	0.77884	CCT		0.517	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		79	341	0	0	0	0	79	341				
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A	rs188283330	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000460581.2_5'UTR	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18309	0.004		0.0	False		,,,				2504	0.0					uc001wqr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(271-273)CGA>CAA		cochlin precursor		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	106.0	111.0		272,272	5.8	0.2	14		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	COCH	NM_001135058.1,NM_004086.2	43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging	91/551,91/551	31348049	4,13002	2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348049G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.272G>A	14.37:g.31348049G>A	ENSP00000379862:p.Arg91Gln					COCH_uc001wqp.2_Missense_Mutation_p.R91Q|COCH_uc001wqq.3_Missense_Mutation_p.R91Q|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	p.R91Q	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	5	352	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		91			LCCL.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.272G>A	CCDS9640.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.62	3.663600	0.67700	2.27E-4	3.49E-4	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.85	5.85	0.93711	LCCL (5);	0.213012	0.47852	D	0.000219	D	0.90882	0.7135	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87220	0.2253	10	0.16420	T	0.52	-9.0279	17.9364	0.89013	0.0:0.0:1.0:0.0	.	91;91	Q96IU6;O43405	.;COCH_HUMAN	Q	91;91;91;75	ENSP00000216361:R91Q;ENSP00000379862:R91Q;ENSP00000451528:R91Q;ENSP00000452541:R75Q	ENSP00000216361:R91Q	R	+	2	0	COCH	30417800	0.672000	0.27530	0.159000	0.22649	0.990000	0.78478	3.342000	0.52159	2.773000	0.95371	0.655000	0.94253	CGA		0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		17	81	0	0	0	0	17	81				
NRXN3	9369	broad.mit.edu	37	14	79933641	79933641	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:79933641C>T	ENST00000557594.1	+	2	1278	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.R741W|NRXN3_ENST00000281127.7_Missense_Mutation_p.R109W|NRXN3_ENST00000335750.5_Missense_Mutation_p.R741W|NRXN3_ENST00000428277.2_Missense_Mutation_p.R109W	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R109W(1)|p.R741W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCAGCACGCGGTCTGACCG	0.577																																						uc001xun.2		NA																	2	Substitution - Missense(2)		prostate(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2221-2223)CGG>TGG		neurexin 3 isoform 1 precursor							110.0	92.0	98.0					14																	79933641		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79933641C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.325C>T	14.37:g.79933641C>T	ENSP00000451672:p.Arg109Trp					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R109W|NRXN3_uc010asw.2_Missense_Mutation_p.R109W|NRXN3_uc001xur.3_Missense_Mutation_p.R109W	p.R741W	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2712	+		Renal(4;0.00876)	1114			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2221C>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.639999	0.87760	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.79454	-1.27;-1.27;0.93;0.93;0.93	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.87328	2.875	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.983;0.981;0.993;0.992	D	0.89877	0.4027	9	.	.	.	.	14.9717	0.71238	0.1761:0.8239:0.0:0.0	.	109;109;109;741	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	W	1114;1103;741;741;109;109;109	ENSP00000451648:R741W;ENSP00000338349:R741W;ENSP00000451672:R109W;ENSP00000281127:R109W;ENSP00000394426:R109W	.	R	+	1	2	NRXN3	79003394	0.999000	0.42202	0.983000	0.44433	0.975000	0.68041	4.062000	0.57492	2.797000	0.96272	0.655000	0.94253	CGG		0.577	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		19	94	0	0	0	0	19	94				
UNC79	57578	broad.mit.edu	37	14	94089060	94089060	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:94089060C>T	ENST00000393151.2	+	30	5481	c.5481C>T	c.(5479-5481)tcC>tcT	p.S1827S	UNC79_ENST00000555664.1_Silent_p.S1827S|UNC79_ENST00000553484.1_Silent_p.S1849S|UNC79_ENST00000256339.4_Silent_p.S1650S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1827					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGAATCCGAATTTAAGA	0.473																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(5014-5016)TCC>TCT		hypothetical protein LOC57578							67.0	62.0	63.0					14																	94089060		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94089060C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5481C>T	14.37:g.94089060C>T						KIAA1409_uc001ybs.1_Silent_p.S1650S	p.S1672S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	5099	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1827					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5016C>T																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	46	0	0	0	0	7	46				
SORD	6652	broad.mit.edu	37	15	45353314	45353314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:45353314C>G	ENST00000267814.9	+	4	495	c.315C>G	c.(313-315)ttC>ttG	p.F105L	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Missense_Mutation_p.F84L	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	105					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		ATGATGAATTCTGCAAGATGG	0.542																																						uc001zul.3		NA																	0					0						c.(313-315)TTC>TTG		sorbitol dehydrogenase	NADH(DB00157)						98.0	81.0	87.0					15																	45353314		2198	4298	6496	SO:0001583	missense	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353314C>G		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.315C>G	15.37:g.45353314C>G	ENSP00000267814:p.Phe105Leu					SORD_uc010uel.1_Intron|SORD_uc001zum.3_Missense_Mutation_p.F105L|SORD_uc010bdz.2_Missense_Mutation_p.F26L	p.F105L	NM_003104	NP_003095	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	456	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	105					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	c.315C>G	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.174771	0.01646	.	.	ENSG00000140263	ENST00000267814	T	0.04551	3.6	4.23	2.14	0.27477	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.200825	0.52532	D	0.000069	T	0.02610	0.0079	N	0.11364	0.135	0.39803	D	0.972596	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.43589	-0.9382	10	0.08179	T	0.78	-23.5644	12.7426	0.57261	0.0:0.821:0.0:0.179	.	26;105	B4DKI2;Q00796	.;DHSO_HUMAN	L	105	ENSP00000267814:F105L	ENSP00000267814:F105L	F	+	3	2	SORD	43140606	1.000000	0.71417	0.861000	0.33841	0.142000	0.21351	0.814000	0.27239	0.439000	0.26476	-1.119000	0.02030	TTC		0.542	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			7	57	0	0	0	0	7	57				
RNF111	54778	broad.mit.edu	37	15	59373425	59373425	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:59373425C>T	ENST00000557998.1	+	8	2526	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	RNF111_ENST00000348370.4_Missense_Mutation_p.P747S|RNF111_ENST00000434298.1_Missense_Mutation_p.P747S|RNF111_ENST00000559209.1_Missense_Mutation_p.P747S|RNF111_ENST00000561186.1_Missense_Mutation_p.P747S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	747	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAGACTGCATCCTCATGAAGT	0.463																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NA																	0				ovary(2)	2						c.(2239-2241)CCT>TCT		ring finger protein 111							166.0	135.0	145.0					15																	59373425		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373425C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2239C>T	15.37:g.59373425C>T	ENSP00000452732:p.Pro747Ser					RNF111_uc002afs.2_Missense_Mutation_p.P747S|RNF111_uc002aft.2_Missense_Mutation_p.P747S|RNF111_uc002afu.2_Missense_Mutation_p.P746S|RNF111_uc002afw.2_Missense_Mutation_p.P747S|RNF111_uc002afx.2_Missense_Mutation_p.P273S	p.P747S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2518	+			747			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2239C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870412	0.51588	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15718	2.5;2.4	5.55	5.55	0.83447	.	0.181390	0.50627	D	0.000116	T	0.14270	0.0345	L	0.36672	1.1	0.34012	D	0.651532	B;B;B	0.28233	0.204;0.104;0.167	B;B;B	0.26770	0.073;0.024;0.053	T	0.13361	-1.0512	10	0.35671	T	0.21	-17.321	11.5264	0.50582	0.1388:0.7273:0.1339:0.0	.	747;747;747	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	S	747	ENSP00000288199:P747S;ENSP00000393641:P747S	ENSP00000288199:P747S	P	+	1	0	RNF111	57160717	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.218000	0.58554	2.613000	0.88420	0.467000	0.42956	CCT		0.463	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		11	83	0	0	0	0	11	83				
THSD4	79875	broad.mit.edu	37	15	72030124	72030124	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:72030124G>A	ENST00000355327.3	+	11	1818	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	THSD4_ENST00000261862.6_Missense_Mutation_p.E562K|THSD4_ENST00000357769.4_Missense_Mutation_p.E202K|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	562					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						GGAGGAGGGAGAACAGAAAGG	0.562																																						uc002atb.1		NA																	0				ovary(2)	2						c.(1684-1686)GAA>AAA		thrombospondin, type I, domain containing 4							140.0	189.0	173.0					15																	72030124		2029	4181	6210	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72030124G>A	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.1684G>A	15.37:g.72030124G>A	ENSP00000347484:p.Glu562Lys					THSD4_uc010ukg.1_Missense_Mutation_p.E202K|THSD4_uc002ate.2_Missense_Mutation_p.E202K	p.E562K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			10	1763	+			562					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1684G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077238	0.36662	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61274	0.12;0.12;0.4	5.42	4.51	0.55191	.	0.381395	0.19032	N	0.124519	T	0.38054	0.1026	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23316	0.001;0.083;0.0	B;B;B	0.17098	0.002;0.017;0.001	T	0.21381	-1.0247	10	0.06099	T	0.92	.	10.2062	0.43114	0.0916:0.0:0.9084:0.0	.	202;202;562	B4E1J6;B4DR13;Q6ZMP0	.;.;THSD4_HUMAN	K	562;562;202	ENSP00000347484:E562K;ENSP00000261862:E562K;ENSP00000350413:E202K	ENSP00000261862:E562K	E	+	1	0	THSD4	69817178	0.503000	0.26115	0.012000	0.15200	0.025000	0.11179	2.001000	0.40825	1.288000	0.44600	0.650000	0.86243	GAA		0.562	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		11	62	0	0	0	0	11	62				
SNRNP25	79622	broad.mit.edu	37	16	104045	104045	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:104045A>G	ENST00000383018.3	+	1	217	c.56A>G	c.(55-57)gAt>gGt	p.D19G	POLR3K_ENST00000293860.5_5'Flank|SNRNP25_ENST00000493672.1_3'UTR	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	19					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						CTGCTCTGCGATCTGCCGATC	0.701																																						uc002cfj.3		NA																	0					0						c.(55-57)GAT>GGT		U11/U12 snRNP 25K protein							51.0	39.0	43.0					16																	104045		2202	4299	6501	SO:0001583	missense	79622				mRNA processing	U12-type spliceosomal complex		g.chr16:104045A>G	BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.56A>G	16.37:g.104045A>G	ENSP00000372482:p.Asp19Gly					POLR3K_uc002cfi.1_5'Flank|SNRNP25_uc002cfk.3_5'Flank	p.D19G	NM_024571	NP_078847	Q9BV90	SNR25_HUMAN			1	217	+			19					Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.56A>G	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.976271	0.74360	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	L	0.48260	1.515	0.80722	D	1	P	0.37207	0.587	B	0.37267	0.245	T	0.50947	-0.8767	9	0.33141	T	0.24	-24.4067	14.0822	0.64932	1.0:0.0:0.0:0.0	.	19	Q9BV90	SNR25_HUMAN	G	10;19;10	.	ENSP00000293861:D10G	D	+	2	0	SNRNP25	44045	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	8.316000	0.89985	2.254000	0.74563	0.533000	0.62120	GAT		0.701	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024571		5	22	0	0	0	0	5	22				
IGFALS	3483	broad.mit.edu	37	16	1842153	1842153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:1842153A>G	ENST00000215539.3	-	2	376	c.266T>C	c.(265-267)gTc>gCc	p.V89A	IGFALS_ENST00000415638.3_Missense_Mutation_p.V127A|IGFALS_ENST00000568221.1_Missense_Mutation_p.S100P			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	89					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGCCGGGGGGACGGACGAGAG	0.687																																						uc002cmy.2		NA																	0					0						c.(265-267)GTC>GCC		insulin-like growth factor binding protein, acid							29.0	28.0	28.0					16																	1842153		2194	4298	6492	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842153A>G	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.266T>C	16.37:g.1842153A>G	ENSP00000215539:p.Val89Ala					IGFALS_uc010uvn.1_Missense_Mutation_p.V127A|IGFALS_uc010uvo.1_5'UTR	p.V89A	NM_004970	NP_004961	P35858	ALS_HUMAN			2	347	-			89			LRR 1.		B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.266T>C	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847541	0.32606	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.59638	0.25;0.25	5.33	5.33	0.75918	.	0.346611	0.27035	N	0.021250	T	0.51719	0.1691	L	0.45137	1.4	0.25817	N	0.984329	B;B	0.31655	0.081;0.334	B;B	0.31946	0.089;0.138	T	0.55547	-0.8124	10	0.87932	D	0	.	14.0943	0.65010	1.0:0.0:0.0:0.0	.	127;89	E9PGU3;P35858	.;ALS_HUMAN	A	89;127	ENSP00000215539:V89A;ENSP00000416683:V127A	ENSP00000215539:V89A	V	-	2	0	IGFALS	1782154	0.995000	0.38212	0.228000	0.23943	0.113000	0.19764	9.104000	0.94239	2.020000	0.59435	0.448000	0.29417	GTC		0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			3	40	0	0	0	0	3	40				
DNAH3	55567	broad.mit.edu	37	16	20994156	20994156	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:20994156C>T	ENST00000261383.3	-	49	7745	c.7746G>A	c.(7744-7746)tcG>tcA	p.S2582S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2582	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTGATCAGCGAAGGGAACA	0.483																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7744-7746)TCG>TCA		dynein, axonemal, heavy chain 3							107.0	101.0	103.0					16																	20994156		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20994156C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7746G>A	16.37:g.20994156C>T						DNAH3_uc010vbd.1_Silent_p.S17S	p.S2582S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	49	7746	-			2582			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7746G>A	CCDS10594.1																																																																																				0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	78	0	0	0	0	13	78				
GDPD3	79153	broad.mit.edu	37	16	30124099	30124100	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:30124099_30124100GC>AA	ENST00000406256.3	-	3	574_575	c.197_198GC>TT	c.(196-198)cGC>cTT	p.R66L	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	66	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGAGGTCCGAGCGCTGGGCCAT	0.653											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2		NA																	0					0						c.(196-198)CGC>CTT		glycerophosphodiester phosphodiesterase domain																																				SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124099_30124100GC>AA	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.197_198delinsAA	16.37:g.30124099_30124100delinsAA	ENSP00000384363:p.Arg66Leu		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R4L|LOC100271831_uc010vei.1_5'Flank	p.R66L	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			3	276_277	-			66			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	DNP	ENST00000406256.3	37	c.197_198GC>TT	CCDS10671.2																																																																																				0.653	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		6	84	0	0	0	0	6	84				
ITGAX	3687	broad.mit.edu	37	16	31383062	31383062	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:31383062T>C	ENST00000268296.4	+	17	2238	c.2117T>C	c.(2116-2118)cTc>cCc	p.L706P	ITGAX_ENST00000562522.1_Missense_Mutation_p.L706P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	706					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTCCGAGTCCTCGGGCTGAAG	0.652																																						uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2116-2118)CTC>CCC		integrin alpha X precursor							62.0	56.0	58.0					16																	31383062		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31383062T>C	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2117T>C	16.37:g.31383062T>C	ENSP00000268296:p.Leu706Pro					ITGAX_uc002ebt.2_Missense_Mutation_p.L706P	p.L706P	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2184	+			706			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2117T>C	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380495	0.61845	.	.	ENSG00000140678	ENST00000268296	T	0.54675	0.56	5.4	5.4	0.78164	Integrin alpha-2 (1);	.	.	.	.	T	0.71500	0.3347	M	0.75615	2.305	0.22926	N	0.998556	D	0.89917	1.0	D	0.87578	0.998	T	0.64457	-0.6403	9	0.72032	D	0.01	.	12.1116	0.53842	0.0:0.0:0.0:1.0	.	706	P20702	ITAX_HUMAN	P	706	ENSP00000268296:L706P	ENSP00000268296:L706P	L	+	2	0	ITGAX	31290563	0.017000	0.18338	0.014000	0.15608	0.034000	0.12701	2.331000	0.43894	2.151000	0.67156	0.533000	0.62120	CTC		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		7	85	0	0	0	0	7	85				
ABCC11	85320	broad.mit.edu	37	16	48226462	48226462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:48226462G>A	ENST00000394747.1	-	19	3024	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ABCC11_ENST00000394748.1_Missense_Mutation_p.S892F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S892F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S892F|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	892	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CAGGGCCGTGGATGCCTTCCT	0.562																																						uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2674-2676)TCC>TTC		ATP-binding cassette, sub-family C, member 11							100.0	90.0	94.0					16																	48226462		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48226462G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2675C>T	16.37:g.48226462G>A	ENSP00000378230:p.Ser892Phe					ABCC11_uc002efg.1_Missense_Mutation_p.S892F|ABCC11_uc002efh.1_Missense_Mutation_p.S892F|ABCC11_uc010vgk.1_RNA	p.S892F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			19	3025	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	892			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2675C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138132	0.77775	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.356741	0.29113	N	0.013114	D	0.95351	0.8491	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.939;0.998	D	0.95627	0.8686	10	0.87932	D	0	-6.528	13.5717	0.61851	0.0:0.0:1.0:0.0	.	892;892	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	892	ENSP00000311326:S892F;ENSP00000349017:S892F;ENSP00000378231:S892F;ENSP00000378230:S892F	ENSP00000311326:S892F	S	-	2	0	ABCC11	46783963	0.883000	0.30277	0.026000	0.17262	0.217000	0.24651	4.584000	0.60971	2.581000	0.87130	0.563000	0.77884	TCC		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		10	79	0	0	0	0	10	79				
CDYL2	124359	broad.mit.edu	37	16	80638322	80638322	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:80638322A>G	ENST00000570137.2	-	7	1639	c.1484T>C	c.(1483-1485)cTt>cCt	p.L495P	CDYL2_ENST00000562812.1_Missense_Mutation_p.L496P|CDYL2_ENST00000566173.1_Missense_Mutation_p.L496P|CDYL2_ENST00000563890.1_Missense_Mutation_p.L496P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	495						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAGCTGAAAAGGGAGTCAAG	0.552																																						uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(1483-1485)CTT>CCT		chromodomain protein, Y-like 2							103.0	101.0	101.0					16																	80638322		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80638322A>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1484T>C	16.37:g.80638322A>G	ENSP00000476295:p.Leu495Pro						p.L495P	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			7	1589	-			495					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1484T>C	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337062	0.60963	.	.	ENSG00000166446	ENST00000299564	T	0.60920	0.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	T	0.69342	0.3100	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.72478	-0.4281	10	0.87932	D	0	.	14.3942	0.67001	1.0:0.0:0.0:0.0	.	495	Q8N8U2	CDYL2_HUMAN	P	495	ENSP00000299564:L495P	ENSP00000299564:L495P	L	-	2	0	CDYL2	79195823	1.000000	0.71417	0.963000	0.40424	0.515000	0.34225	9.139000	0.94554	2.194000	0.70268	0.528000	0.53228	CTT		0.552	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		3	129	0	0	0	0	3	129				
ZNF276	92822	broad.mit.edu	37	16	89789017	89789017	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:89789017C>T	ENST00000443381.2	+	2	381	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.S20F|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.S20F	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	95	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGCAGCATCTCCGAGAGGGCG	0.667																																						uc002fos.3		NA																	0					0						c.(283-285)TCC>TTC		zinc finger protein 276 isoform a							51.0	55.0	54.0					16																	89789017		2198	4299	6497	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789017C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.284C>T	16.37:g.89789017C>T	ENSP00000415836:p.Ser95Phe					C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.S20F|ZNF276_uc002foq.3_Missense_Mutation_p.S20F|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.S95F	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	381	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	95			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.284C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124149	0.01770	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.04360	3.68;3.64	5.27	1.87	0.25490	Zinc finger, AD-type (1);	0.247806	0.39687	N	0.001296	T	0.01592	0.0051	N	0.04203	-0.255	0.80722	D	1	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.004	T	0.43097	-0.9412	10	0.02654	T	1	-7.767	2.7037	0.05156	0.0:0.3706:0.248:0.3814	.	95;20	Q8N554;Q8N554-2	ZN276_HUMAN;.	F	20;95	ENSP00000289816:S20F;ENSP00000415836:S95F	ENSP00000289816:S20F	S	+	2	0	ZNF276	88316518	1.000000	0.71417	0.204000	0.23530	0.004000	0.04260	4.175000	0.58263	0.617000	0.30160	-0.878000	0.02970	TCC		0.667	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		10	94	0	0	0	0	10	94				
CAMTA2	23125	broad.mit.edu	37	17	4873662	4873662	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:4873662T>C	ENST00000348066.3	-	17	3101	c.2978A>G	c.(2977-2979)gAc>gGc	p.D993G	CAMTA2_ENST00000572543.1_Missense_Mutation_p.D998G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D1016G|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.D992G|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.D993G|SPAG7_ENST00000571023.1_5'Flank|RP5-1050D4.2_ENST00000430920.1_RNA|SPAG7_ENST00000575142.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.D995G	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	993					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGAAATGGTCCACATTCTC	0.602																																						uc002gah.1		NA																	0				ovary(1)	1						c.(2977-2979)GAC>GGC		calmodulin binding transcription activator 2							75.0	70.0	72.0					17																	4873662		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4873662T>C	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2978A>G	17.37:g.4873662T>C	ENSP00000321813:p.Asp993Gly					SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.D1016G|CAMTA2_uc002gag.1_Missense_Mutation_p.D992G|CAMTA2_uc002gai.1_Missense_Mutation_p.D995G|CAMTA2_uc010ckv.1_Missense_Mutation_p.D640G	p.D993G	NM_015099	NP_055914	O94983	CMTA2_HUMAN			17	3086	-			993					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.2978A>G	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148326	0.78001	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.34667	2.52;1.58;1.35;1.59;1.36	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	L	0.61218	1.895	0.53688	D	0.999978	D;D;D;D;D	0.67145	0.996;0.993;0.994;0.993;0.994	D;P;D;D;D	0.70935	0.932;0.823;0.917;0.971;0.917	T	0.53294	-0.8459	10	0.41790	T	0.15	-18.727	12.992	0.58625	0.0:0.0:0.0:1.0	.	969;1016;995;993;992	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	G	1016;995;992;993;993	ENSP00000412886:D1016G;ENSP00000370712:D995G;ENSP00000354828:D992G;ENSP00000350910:D993G;ENSP00000321813:D993G	ENSP00000321813:D993G	D	-	2	0	CAMTA2	4814386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.777000	0.85628	2.171000	0.68590	0.459000	0.35465	GAC		0.602	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		3	108	0	0	0	0	3	108				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	75	0	0	0	0	9	75				
KRTAP4-11	653240	broad.mit.edu	37	17	39274379	39274379	+	Silent	SNP	G	G	A	rs411996		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:39274379G>A	ENST00000391413.2	-	1	227	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	63	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCGGCAGCAGGTGGGCTGGC	0.657																																						uc002hvz.2		NA																	0					0						c.(187-189)ACC>ACT		keratin associated protein 4-11							8.0	14.0	12.0					17																	39274379		676	1584	2260	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274379G>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.189C>T	17.37:g.39274379G>A							p.T63T	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	228	-		Breast(137;0.000496)	63		Missing (in allele KAP4.14).	8.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.189C>T	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			9	94	0	0	0	0	9	94				
MYCBPAP	84073	broad.mit.edu	37	17	48597049	48597049	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:48597049G>A	ENST00000323776.5	+	7	1108	c.946G>A	c.(946-948)Gag>Aag	p.E316K	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E279K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTTGGGAGATGAGATGACAGG	0.547																																						uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(946-948)GAG>AAG		Myc-binding protein-associated protein							99.0	87.0	91.0					17																	48597049		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48597049G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.946G>A	17.37:g.48597049G>A	ENSP00000323184:p.Glu316Lys					MYCBPAP_uc002iqx.2_Missense_Mutation_p.E316K|MYCBPAP_uc002iqz.2_RNA	p.E316K	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		7	1108	+	Breast(11;1.23e-18)		279						Missense_Mutation	SNP	ENST00000323776.5	37	c.946G>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	35	5.514623	0.96402	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.49720	0.77;0.77	5.75	5.75	0.90469	.	0.054334	0.64402	D	0.000001	T	0.68467	0.3004	M	0.77103	2.36	0.52099	D	0.999946	D;D	0.63046	0.992;0.992	P;P	0.59357	0.856;0.856	T	0.69932	-0.5011	10	0.56958	D	0.05	-22.8315	19.9287	0.97112	0.0:0.0:1.0:0.0	.	279;316	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	K	316;279	ENSP00000323184:E316K;ENSP00000397209:E279K	ENSP00000323184:E316K	E	+	1	0	MYCBPAP	45952048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.750000	0.74888	2.717000	0.92951	0.563000	0.77884	GAG		0.547	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		7	44	0	0	0	0	7	44				
CA10	56934	broad.mit.edu	37	17	49825158	49825158	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:49825158G>A	ENST00000285273.4	-	5	1411	c.300C>T	c.(298-300)aaC>aaT	p.N100N	CA10_ENST00000451037.2_Silent_p.N100N|CA10_ENST00000570565.1_Silent_p.N25N|CA10_ENST00000340813.6_Silent_p.N106N|CA10_ENST00000442502.2_Silent_p.N100N|CA10_ENST00000571918.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	100					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GTCTTCCAGTGTTGTACATGG	0.542																																						uc002itw.3		NA																	0				ovary(1)|skin(1)	2						c.(298-300)AAC>AAT		carbonic anhydrase X							122.0	109.0	113.0					17																	49825158		2203	4300	6503	SO:0001819	synonymous_variant	56934				brain development			g.chr17:49825158G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.300C>T	17.37:g.49825158G>A						CA10_uc002itu.3_Silent_p.N29N|CA10_uc002itv.3_Silent_p.N106N|CA10_uc002itx.3_Silent_p.N100N|CA10_uc002ity.3_Silent_p.N100N|CA10_uc002itz.2_Silent_p.N100N	p.N100N	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		4	1286	-			100					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.300C>T	CCDS32684.1																																																																																				0.542	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		11	81	0	0	0	0	11	81				
INTS2	57508	broad.mit.edu	37	17	59972740	59972740	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:59972740A>G	ENST00000444766.3	-	12	1598	c.1523T>C	c.(1522-1524)gTa>gCa	p.V508A	INTS2_ENST00000251334.6_Missense_Mutation_p.V500A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	508					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGGCTTAATTACAATCTAAAA	0.294																																						uc002izn.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1522-1524)GTA>GCA		integrator complex subunit 2							31.0	30.0	30.0					17																	59972740		1791	4052	5843	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59972740A>G	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1523T>C	17.37:g.59972740A>G	ENSP00000414237:p.Val508Ala					INTS2_uc002izm.2_Missense_Mutation_p.V500A	p.V508A	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			12	1599	-			508					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.1523T>C	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	A	7.202	0.593746	0.13875	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.40756	1.02	5.08	5.08	0.68730	.	0.111433	0.64402	D	0.000010	T	0.27731	0.0682	N	0.16478	0.41	0.50467	D	0.999879	B	0.02656	0.0	B	0.04013	0.001	T	0.07195	-1.0785	9	.	.	.	-15.4675	15.1457	0.72650	1.0:0.0:0.0:0.0	.	508	Q9H0H0	INT2_HUMAN	A	508;507	ENSP00000414237:V508A	.	V	-	2	0	INTS2	57327522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.847000	0.62867	2.041000	0.60428	0.528000	0.53228	GTA		0.294	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		4	15	0	0	0	0	4	15				
MRC2	9902	broad.mit.edu	37	17	60749025	60749025	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:60749025T>A	ENST00000303375.5	+	7	1535	c.1133T>A	c.(1132-1134)gTg>gAg	p.V378E		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	378					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGCCAATGTGAAGGTGGAG	0.632																																						uc002jad.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1132-1134)GTG>GAG		mannose receptor, C type 2							33.0	31.0	32.0					17																	60749025		2202	4300	6502	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749025T>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1133T>A	17.37:g.60749025T>A	ENSP00000307513:p.Val378Glu					MRC2_uc002jac.2_Missense_Mutation_p.V378E	p.V378E	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			7	1535	+			378			Extracellular (Potential).		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.1133T>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705058	0.30232	.	.	ENSG00000011028	ENST00000303375	T	0.17528	2.27	3.84	3.84	0.44239	C-type lectin-like (1);	0.296624	0.31809	N	0.007029	T	0.12902	0.0313	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07102	-1.0790	10	0.30078	T	0.28	-8.8816	12.7902	0.57528	0.0:0.0:0.0:1.0	.	378	Q9UBG0	MRC2_HUMAN	E	378	ENSP00000307513:V378E	ENSP00000307513:V378E	V	+	2	0	MRC2	58102757	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	4.083000	0.57643	1.604000	0.50143	0.459000	0.35465	GTG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			6	42	0	0	0	0	6	42				
MISP	126353	broad.mit.edu	37	19	758519	758519	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:758519G>T	ENST00000215582.6	+	2	1676	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	525					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGTCCCCCATGTCTGGGGCTG	0.672																																						uc002lpo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1573-1575)GTC>TTC		hypothetical protein LOC126353							30.0	36.0	34.0					19																	758519		2200	4299	6499	SO:0001583	missense	126353							g.chr19:758519G>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1573G>T	19.37:g.758519G>T	ENSP00000215582:p.Val525Phe						p.V525F	NM_173481	NP_775752	Q8IVT2	CS021_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	1656	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	525						Missense_Mutation	SNP	ENST00000215582.6	37	c.1573G>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045902	0.36085	.	.	ENSG00000099812	ENST00000215582	T	0.33438	1.41	3.9	-2.42	0.06542	.	3.642550	0.01092	N	0.005214	T	0.24160	0.0585	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25745	-1.0123	10	0.54805	T	0.06	-3.5969	3.1125	0.06364	0.293:0.0:0.3897:0.3173	.	525	Q8IVT2	CS021_HUMAN	F	525	ENSP00000215582:V525F	ENSP00000215582:V525F	V	+	1	0	C19orf21	709519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.028000	0.13644	-0.227000	0.09884	-0.314000	0.08810	GTC		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		17	58	1	0	1.03e-11	1.28e-11	17	58				
DENND1C	79958	broad.mit.edu	37	19	6476960	6476960	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:6476960C>T	ENST00000381480.2	-	10	698	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	DENND1C_ENST00000543576.1_Missense_Mutation_p.V152M|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	196	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGGCCACCACCAGCTCCGTT	0.642																																						uc002mfe.2		NA																	0				large_intestine(1)	1						c.(586-588)GTG>ATG		DENN/MADD domain containing 1C							35.0	41.0	39.0					19																	6476960		1994	4166	6160	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6476960C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.586G>A	19.37:g.6476960C>T	ENSP00000370889:p.Val196Met					DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.V152M	p.V196M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			10	678	-			196			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.586G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	c	17.62	3.435116	0.62955	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11277	2.79;2.79	4.54	4.54	0.55810	DENN (3);	0.330014	0.28983	N	0.013516	T	0.31482	0.0798	M	0.80746	2.51	0.35898	D	0.830165	D	0.58620	0.983	D	0.67900	0.954	T	0.42682	-0.9437	10	0.72032	D	0.01	-15.3208	10.8116	0.46551	0.0:0.8074:0.1926:0.0	.	196	Q8IV53	DEN1C_HUMAN	M	196;152	ENSP00000370889:V196M;ENSP00000437805:V152M	ENSP00000370889:V196M	V	-	1	0	DENND1C	6427960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.487000	0.35540	2.069000	0.61940	0.556000	0.70494	GTG		0.642	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		12	40	0	0	0	0	12	40				
ZNF177	7730	broad.mit.edu	37	19	9489013	9489013	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:9489013G>C	ENST00000589262.1	+	2	92	c.26G>C	c.(25-27)tGg>tCg	p.W9S	ZNF177_ENST00000602738.1_Missense_Mutation_p.W9S|ZNF177_ENST00000343499.4_Missense_Mutation_p.W9S|ZNF177_ENST00000541595.2_Missense_Mutation_p.W9S|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.W9S|ZNF177_ENST00000446085.4_Missense_Mutation_p.W9S|ZNF177_ENST00000590616.1_Missense_Mutation_p.W9S|ZNF177_ENST00000602856.1_Missense_Mutation_p.W9S	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	9					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTGACAACCTGGTCACAGGTA	0.507																																						uc002mli.2		NA																	0				ovary(1)	1						c.(25-27)TGG>TCG		zinc finger protein 177							67.0	61.0	63.0					19																	9489013		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9489013G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.26G>C	19.37:g.9489013G>C	ENSP00000468531:p.Trp9Ser					ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Missense_Mutation_p.W9S	p.W9S	NM_003451	NP_003442	Q13360	ZN177_HUMAN			8	689	+			9					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.26G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	3.748	-0.052205	0.07362	.	.	ENSG00000188629	ENST00000541595;ENST00000446085;ENST00000343499;ENST00000434737	T;T;T;T	0.00730	5.77;5.77;5.77;5.77	2.14	2.14	0.27477	Krueppel-associated box (1);	.	.	.	.	T	0.00496	0.0016	N	0.04335	-0.225	0.27290	N	0.957856	B	0.32160	0.358	B	0.33295	0.161	T	0.42120	-0.9470	8	0.22109	T	0.4	.	7.8522	0.29462	0.0:0.0:1.0:0.0	.	9	Q13360	ZN177_HUMAN	S	9	ENSP00000445323:W9S;ENSP00000413568:W9S;ENSP00000341497:W9S;ENSP00000415070:W9S	ENSP00000341497:W9S	W	+	2	0	ZNF177	9350013	0.659000	0.27411	0.892000	0.35008	0.171000	0.22731	0.530000	0.23036	1.518000	0.48934	0.467000	0.42956	TGG		0.507	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		4	52	0	0	0	0	4	52				
FARSA	2193	broad.mit.edu	37	19	13035607	13035607	+	Silent	SNP	C	C	T	rs530112428		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:13035607C>T	ENST00000314606.4	-	10	1059	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	FARSA_ENST00000588025.1_Silent_p.P387P|FARSA_ENST00000423140.2_Silent_p.P316P	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	347					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	AGTACTTGACCGGAGTGAAGG	0.632																																						uc002mvs.2		NA																	0				ovary(1)	1						c.(1039-1041)CCG>CCA		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						83.0	85.0	84.0					19																	13035607		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035607C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1041G>A	19.37:g.13035607C>T						FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Silent_p.P316P|FARSA_uc010dyy.1_Silent_p.P268P	p.P347P	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			10	1089	-			347					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.1041G>A	CCDS12287.1																																																																																				0.632	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		12	161	0	0	0	0	12	161				
ASF1B	55723	broad.mit.edu	37	19	14247232	14247232	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:14247232C>T	ENST00000263382.3	-	1	536	c.37G>A	c.(37-39)Gag>Aag	p.E13K	CTB-55O6.12_ENST00000588658.1_RNA|ASF1B_ENST00000474890.1_Missense_Mutation_p.E13K|ASF1B_ENST00000592798.1_Missense_Mutation_p.E13K|CTB-55O6.12_ENST00000588387.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	13	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTCGGGTTCTCCAGGACCGCC	0.716																																						uc002mye.2		NA																	0					0						c.(37-39)GAG>AAG		anti-silencing function 1B							48.0	44.0	45.0					19																	14247232		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14247232C>T	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.37G>A	19.37:g.14247232C>T	ENSP00000263382:p.Glu13Lys					uc002myf.2_5'Flank	p.E13K	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			1	209	-			13			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.37G>A	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750484	0.69533	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.4	3.15	0.36227	.	0.208432	0.48767	D	0.000162	T	0.34687	0.0906	N	0.16903	0.455	0.39471	D	0.967724	B	0.23650	0.089	B	0.29176	0.099	T	0.29274	-1.0017	9	0.72032	D	0.01	.	6.7104	0.23274	0.0:0.7246:0.1798:0.0956	.	13	Q9NVP2	ASF1B_HUMAN	K	13	.	ENSP00000263382:E13K	E	-	1	0	ASF1B	14108232	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.409000	0.59768	1.277000	0.44412	-0.350000	0.07774	GAG		0.716	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		13	49	0	0	0	0	13	49				
ZNF676	163223	broad.mit.edu	37	19	22363559	22363559	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22363559C>G	ENST00000397121.2	-	3	1277	c.960G>C	c.(958-960)tgG>tgC	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433																																						uc002nqs.1		NA																	0					0						c.(958-960)TGG>TGC		zinc finger protein 676							60.0	62.0	61.0					19																	22363559		2095	4231	6326	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363559C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.960G>C	19.37:g.22363559C>G	ENSP00000380310:p.Trp320Cys						p.W320C	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1278	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	320			C2H2-type 6.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.960G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.070	-1.204275	0.01568	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.10707	0.03	0.09310	N	1	D	0.58620	0.983	P	0.56474	0.799	T	0.11251	-1.0595	9	0.44086	T	0.13	.	0.1517	0.00094	0.2482:0.2591:0.2473:0.2454	.	320	Q8N7Q3	ZN676_HUMAN	C	320	ENSP00000380310:W320C	ENSP00000380310:W320C	W	-	3	0	ZNF676	22155399	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	-5.234000	0.00139	0.192000	0.20272	0.195000	0.17529	TGG		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	105	0	0	0	0	11	105				
ZNF99	7652	broad.mit.edu	37	19	22939799	22939799	+	IGR	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22939799G>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.A844A|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCCTAAGGGCTGAGAAAT	0.348																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2530-2532)GCC>GCT		zinc finger protein 99							57.0	63.0	61.0					19																	22939799		2062	4214	6276	SO:0001628	intergenic_variant	7652							g.chr19:22939799G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939799G>A							p.A844A	NM_001080409	NP_001073878					6	2532	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2532C>T	CCDS59369.1																																																																																				0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		13	86	0	0	0	0	13	86				
WTIP	126374	broad.mit.edu	37	19	34984493	34984493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:34984493G>T	ENST00000590071.2	+	5	1334	c.997G>T	c.(997-999)Gag>Tag	p.E333*	WTIP_ENST00000270288.6_Nonsense_Mutation_p.E557*	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	333	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGGACGTGGAGAACAACAT	0.617																																						uc002nvm.2		NA																	0					0						c.(997-999)GAG>TAG		Wilms tumor 1 interacting protein							88.0	96.0	93.0					19																	34984493		2183	4289	6472	SO:0001587	stop_gained	126374							g.chr19:34984493G>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.997G>T	19.37:g.34984493G>T	ENSP00000466953:p.Glu333*						p.E333*	NM_001080436	NP_001073905			LUSC - Lung squamous cell carcinoma(66;0.211)		5	997	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Nonsense_Mutation	SNP	ENST00000590071.2	37	c.997G>T	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793836	0.96952	.	.	ENSG00000142279	ENST00000270288	.	.	.	5.58	-0.729	0.11158	.	0.270973	0.41712	D	0.000829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.6195	0.33853	0.1346:0.343:0.5225:0.0	.	.	.	.	X	557	.	ENSP00000270288:E557X	E	+	1	0	WTIP	39676333	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	2.959000	0.49153	0.012000	0.14892	-0.314000	0.08810	GAG		0.617	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		11	99	1	0	0.00829132	0.00944551	11	99				
KMT2B	9757	broad.mit.edu	37	19	36212436	36212436	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:36212436C>T	ENST00000222270.7	+	3	2187	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	KMT2B_ENST00000420124.1_Silent_p.N729N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	729	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCTGAGCAACGGGCCACAGA	0.662																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2185-2187)AAC>AAT		myeloid/lymphoid or mixed-lineage leukemia 4							38.0	50.0	46.0					19																	36212436		2102	4235	6337	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212436C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2187C>T	19.37:g.36212436C>T							p.N729N	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2187	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		729			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.2187C>T	CCDS46055.1																																																																																				0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	60	0	0	0	0	6	60				
HNRNPL	3191	broad.mit.edu	37	19	39336375	39336375	+	Splice_Site	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:39336375C>A	ENST00000221419.5	-	4	991	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	HNRNPL_ENST00000600873.1_Splice_Site_p.D76Y|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	209	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TAAAGAACATCCTGCAAAAGC	0.478																																						uc010xul.1		NA																	0					0						c.(625-627)GAT>TAT		heterogeneous nuclear ribonucleoprotein L							76.0	73.0	74.0					19																	39336375		2203	4300	6503	SO:0001630	splice_region_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39336375C>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.625-1G>T	19.37:g.39336375C>A						HNRNPL_uc010xum.1_Missense_Mutation_p.D76Y|HNRNPL_uc010xun.1_5'Flank	p.D209Y	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		4	636	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		209			RRM 2.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.625G>T	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743914	0.89663	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87072	0.2160	9	0.87932	D	0	.	18.1894	0.89802	0.0:1.0:0.0:0.0	.	209	P14866	HNRPL_HUMAN	Y	209;76;76;76;137	.	ENSP00000221419:D209Y	D	-	1	0	HNRNPL	44028215	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.697000	0.84279	2.606000	0.88127	0.557000	0.71058	GAT		0.478	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		Missense_Mutation	5	59	1	0	0.000602214	0.000702	5	59				
STRN4	29888	broad.mit.edu	37	19	47226075	47226075	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:47226075C>T	ENST00000263280.6	-	14	1947	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.G514D|STRN4_ENST00000391910.3_Missense_Mutation_p.G640D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	633						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACCGCTGCTGCCCCGGGACTC	0.627																																						uc002pfl.2		NA																	0					0						c.(1897-1899)GGC>GAC		zinedin isoform 1							86.0	86.0	86.0					19																	47226075		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47226075C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1898G>A	19.37:g.47226075C>T	ENSP00000263280:p.Gly633Asp					STRN4_uc002pfm.2_Missense_Mutation_p.G640D|STRN4_uc010xyf.1_RNA	p.G633D	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	14	1931	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	633					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1898G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985500	0.35036	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.80909	-1.43;-1.43;-1.43	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126193	0.53938	D	0.000041	T	0.64638	0.2616	N	0.05124	-0.11	0.80722	D	1	P;P	0.42827	0.713;0.791	B;B	0.43838	0.433;0.198	T	0.65340	-0.6192	10	0.07644	T	0.81	-29.2066	15.2367	0.73436	0.0:1.0:0.0:0.0	.	640;633	F8VYA6;Q9NRL3	.;STRN4_HUMAN	D	640;633;514	ENSP00000375777:G640D;ENSP00000263280:G633D;ENSP00000440901:G514D	ENSP00000263280:G633D	G	-	2	0	STRN4	51917915	0.934000	0.31675	1.000000	0.80357	0.904000	0.53231	1.922000	0.40045	2.667000	0.90743	0.462000	0.41574	GGC		0.627	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			23	134	0	0	0	0	23	134				
DTNB	1838	broad.mit.edu	37	2	25754408	25754408	+	Missense_Mutation	SNP	G	G	C	rs200652614	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:25754408G>C	ENST00000406818.3	-	9	1184	c.935C>G	c.(934-936)aCg>aGg	p.T312R	DTNB_ENST00000407186.1_Missense_Mutation_p.T312R|DTNB_ENST00000407038.3_Missense_Mutation_p.T312R|DTNB_ENST00000545439.1_Missense_Mutation_p.T108R|DTNB_ENST00000496972.2_Missense_Mutation_p.T255R|DTNB_ENST00000405222.1_Missense_Mutation_p.T312R|DTNB_ENST00000404103.3_Missense_Mutation_p.T312R|DTNB_ENST00000407661.3_Missense_Mutation_p.T312R|DTNB_ENST00000288642.8_Missense_Mutation_p.T312R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	312						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTCTCGTGGGTACACA	0.438																																						uc002rgh.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(934-936)ACG>AGG		dystrobrevin, beta isoform 1							125.0	125.0	125.0					2																	25754408		1873	4103	5976	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25754408G>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.935C>G	2.37:g.25754408G>C	ENSP00000384084:p.Thr312Arg					DTNB_uc010yko.1_Missense_Mutation_p.T255R|DTNB_uc010ykp.1_Missense_Mutation_p.T108R|DTNB_uc002rgo.2_Missense_Mutation_p.T133R|DTNB_uc002rgi.2_Missense_Mutation_p.T312R|DTNB_uc002rgj.2_Missense_Mutation_p.T312R|DTNB_uc002rgk.2_Missense_Mutation_p.T312R|DTNB_uc002rgl.2_Missense_Mutation_p.T312R|DTNB_uc002rgq.2_Missense_Mutation_p.T312R|DTNB_uc002rgm.2_Missense_Mutation_p.T312R|DTNB_uc002rgn.2_Missense_Mutation_p.T108R|DTNB_uc002rgr.1_Missense_Mutation_p.T301R|DTNB_uc010ykq.1_Missense_Mutation_p.T165R	p.T312R	NM_021907	NP_068707	O60941	DTNB_HUMAN			9	1185	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		312					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.935C>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384532	0.42308	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.41065	2.32;2.33;2.32;2.32;2.29;2.29;2.29;2.31;1.01	5.15	4.21	0.49690	.	0.401503	0.29028	N	0.013371	T	0.27169	0.0666	N	0.08118	0	0.25173	N	0.990267	B;B;B;B;B;B;B;B;B;B;B;B	0.29571	0.021;0.161;0.249;0.087;0.053;0.161;0.006;0.161;0.162;0.249;0.038;0.023	B;B;B;B;B;B;B;B;B;B;B;B	0.36335	0.051;0.157;0.136;0.222;0.031;0.103;0.043;0.064;0.148;0.209;0.109;0.051	T	0.31138	-0.9954	10	0.66056	D	0.02	-9.2941	11.3765	0.49730	0.0:0.312:0.688:0.0	.	312;108;255;312;312;255;312;312;312;312;312;312	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	R	255;312;312;312;312;312;312;312;108;165	ENSP00000444463:T255R;ENSP00000384084:T312R;ENSP00000385482:T312R;ENSP00000385193:T312R;ENSP00000384767:T312R;ENSP00000384787:T312R;ENSP00000385784:T312R;ENSP00000288642:T312R;ENSP00000444961:T108R	ENSP00000288642:T312R	T	-	2	0	DTNB	25607912	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.034000	0.41145	2.381000	0.81170	0.467000	0.42956	ACG		0.438	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		16	104	0	0	0	0	16	104				
SOS1	6654	broad.mit.edu	37	2	39251221	39251221	+	Missense_Mutation	SNP	T	T	A	rs397517146		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:39251221T>A	ENST00000426016.1	-	10	1218	c.1132A>T	c.(1132-1134)Aca>Tca	p.T378S	SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.T378S|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000395038.2_Missense_Mutation_p.T378S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	378	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		T -> A (in a patient with Noonan syndrome). {ECO:0000269|PubMed:19953625}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGCAAAGCTGTTATTGCTTGT	0.303									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1132-1134)ACA>TCA		son of sevenless homolog 1							172.0	159.0	163.0					2																	39251221		2201	4300	6501	SO:0001583	missense	6654	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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39251221T>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1132A>T	2.37:g.39251221T>A	ENSP00000387784:p.Thr378Ser					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.T110S	p.T378S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			9	1173	-		all_hematologic(82;0.21)	378			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1132A>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	8.924	0.961849	0.18583	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.63255	-0.03;-0.03;-0.03	5.86	5.86	0.93980	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	L	0.37897	1.145	0.80722	D	1	B;B	0.22414	0.009;0.069	B;B	0.24974	0.039;0.057	T	0.48875	-0.8996	10	0.10902	T	0.67	.	16.2652	0.82574	0.0:0.0:0.0:1.0	.	110;378	F5GX06;Q07889	.;SOS1_HUMAN	S	378;378;110;378;378	ENSP00000387784:T378S;ENSP00000384675:T378S;ENSP00000378479:T378S	ENSP00000263879:T378S	T	-	1	0	SOS1	39104725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.241000	0.73720	0.528000	0.53228	ACA		0.303	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	49	0	0	0	0	4	49				
SLC8A1	6546	broad.mit.edu	37	2	40397431	40397431	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:40397431G>A	ENST00000403092.1	-	7	2061	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000408028.2_Silent_p.I668I|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I676I|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.I671I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.I671I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	676					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGCAATGGTGATTACAGTAG	0.433																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2026-2028)ATC>ATT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						159.0	138.0	145.0					2																	40397431		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40397431G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2028C>T	2.37:g.40397431G>A						uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.I671I|SLC8A1_uc002rrz.2_Silent_p.I663I|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Silent_p.I668I	p.I676I	NM_021097	NP_066920	P32418	NAC1_HUMAN			6	2052	-			676			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2028C>T	CCDS1806.1																																																																																				0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		8	56	0	0	0	0	8	56				
RGPD4	285190	broad.mit.edu	37	2	108487680	108487680	+	Missense_Mutation	SNP	G	G	A	rs2919157		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108487680G>A	ENST00000408999.3	+	20	3297	c.3220G>A	c.(3220-3222)Gta>Ata	p.V1074I	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1074I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1074	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGCTGAGGTAAGGCAGTG	0.383																																						uc010ywk.1		NA																	0				skin(2)	2						c.(3220-3222)GTA>ATA		RANBP2-like and GRIP domain containing 4							2.0	2.0	2.0					2																	108487680		80	518	598	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487680G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3220G>A	2.37:g.108487680G>A	ENSP00000386810:p.Val1074Ile					RGPD4_uc002tdu.2_Missense_Mutation_p.V261I|RGPD4_uc010ywl.1_RNA	p.V1074I	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3302	+			1074			RanBD1 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3220G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.809474	0.00606	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.45276	0.9;0.9	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.19446	0.0467	N	0.10972	0.075	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	9	0.09843	T	0.71	-22.749	6.5379	0.22365	0.8681:0.0:0.1319:0.0	rs2919157	1074	Q7Z3J3	RGPD4_HUMAN	I	1074;1074;832	ENSP00000347081:V1074I;ENSP00000386810:V1074I	ENSP00000347081:V1074I	V	+	1	0	RGPD4	107854112	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	3.485000	0.53208	0.141000	0.18875	-1.867000	0.00556	GTA		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		71	513	0	0	0	0	71	513				
SULT1C2	6819	broad.mit.edu	37	2	108924864	108924864	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108924864G>A	ENST00000437390.2	+	8	1054	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SULT1C2_ENST00000251481.6_Missense_Mutation_p.E279K|SULT1C2_ENST00000326853.5_Missense_Mutation_p.E290K|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E242K			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTTTGATGAAATCTATAG	0.413																																						uc002tdy.2		NA																	0				ovary(1)	1						c.(835-837)GAA>AAA		sulfotransferase family, cytosolic, 1C, member 1							106.0	112.0	110.0					2																	108924864		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108924864G>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.877G>A	2.37:g.108924864G>A	ENSP00000399651:p.Glu293Lys					SULT1C2_uc002tdx.2_Missense_Mutation_p.E290K|SULT1C2_uc010ywq.1_Missense_Mutation_p.E293K	p.E279K	NM_001056	NP_001047	O00338	ST1C2_HUMAN			8	1288	+			279					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.835G>A		.	.	.	.	.	.	.	.	.	.	G	10.48	1.362664	0.24684	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390;ENST00000409067	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.81	-1.28	0.09318	Sulfotransferase domain (1);	0.447751	0.20145	N	0.098283	T	0.64316	0.2587	L	0.33339	1.005	0.29154	N	0.878186	B;B;B	0.19445	0.025;0.014;0.036	B;B;B	0.20184	0.028;0.028;0.024	T	0.45279	-0.9272	10	0.12766	T	0.61	.	1.4784	0.02431	0.3281:0.2356:0.3167:0.1196	.	293;279;290	B4DLP0;O00338;O00338-2	.;ST1C2_HUMAN;.	K	279;290;242;293;215	ENSP00000251481:E279K;ENSP00000319622:E290K;ENSP00000387054:E242K;ENSP00000399651:E293K	ENSP00000251481:E279K	E	+	1	0	SULT1C2	108291296	0.614000	0.27017	0.097000	0.21041	0.917000	0.54804	0.298000	0.19120	-0.167000	0.10871	0.563000	0.77884	GAA		0.413	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		9	86	0	0	0	0	9	86				
ERCC3	2071	broad.mit.edu	37	2	128029027	128029027	+	Silent	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:128029027T>A	ENST00000285398.2	-	12	1924	c.1830A>T	c.(1828-1830)gtA>gtT	p.V610V	ERCC3_ENST00000493187.2_Silent_p.V546V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	610	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAGTGTCACCTACCTACAGAA	0.413			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1828-1830)GTA>GTT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							93.0	94.0	94.0					2																	128029027		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128029027T>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1830A>T	2.37:g.128029027T>A						ERCC3_uc002toe.1_Silent_p.V365V|ERCC3_uc002tof.1_Silent_p.V546V|ERCC3_uc002tog.1_Silent_p.V546V	p.V610V	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	12	1925	-	Colorectal(110;0.1)		610			Helicase C-terminal.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.1830A>T	CCDS2144.1																																																																																				0.413	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		8	118	0	0	0	0	8	118				
SPHKAP	80309	broad.mit.edu	37	2	228882145	228882145	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:228882145C>G	ENST00000392056.3	-	7	3471	c.3425G>C	c.(3424-3426)aGa>aCa	p.R1142T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1142T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1142						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCAAATCCTCTCCCTTCATT	0.527																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(3424-3426)AGA>ACA		sphingosine kinase type 1-interacting protein							63.0	52.0	55.0					2																	228882145		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882145C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3425G>C	2.37:g.228882145C>G	ENSP00000375909:p.Arg1142Thr					SPHKAP_uc002vpp.2_Missense_Mutation_p.R1142T|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1142T	p.R1142T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3472	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1142					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3425G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011894	0.75046	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.39997	1.05;1.05	5.57	5.57	0.84162	.	0.042422	0.85682	D	0.000000	T	0.56232	0.1971	L	0.32530	0.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.916;0.999	T	0.54689	-0.8256	10	0.52906	T	0.07	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	173;1142;1142	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	T	1142	ENSP00000375909:R1142T;ENSP00000339886:R1142T	ENSP00000339886:R1142T	R	-	2	0	SPHKAP	228590389	0.995000	0.38212	0.668000	0.29813	0.993000	0.82548	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	AGA		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		9	46	0	0	0	0	9	46				
GIGYF2	26058	broad.mit.edu	37	2	233675989	233675989	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:233675989A>C	ENST00000409547.1	+	19	2245	c.1934A>C	c.(1933-1935)aAa>aCa	p.K645T	GIGYF2_ENST00000409196.3_Missense_Mutation_p.K639T|GIGYF2_ENST00000373563.4_Missense_Mutation_p.K645T|GIGYF2_ENST00000452341.2_Missense_Mutation_p.K476T|GIGYF2_ENST00000409451.3_Missense_Mutation_p.K666T|GIGYF2_ENST00000373566.3_Missense_Mutation_p.K667T|GIGYF2_ENST00000409480.1_Missense_Mutation_p.K667T	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	645	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAACAGCAGAAAGCAGCACTG	0.423																																						uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(1933-1935)AAA>ACA		GRB10 interacting GYF protein 2 isoform b							151.0	130.0	137.0					2																	233675989		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233675989A>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1934A>C	2.37:g.233675989A>C	ENSP00000386537:p.Lys645Thr					GIGYF2_uc010zmj.1_Missense_Mutation_p.K645T|GIGYF2_uc002vtg.2_Missense_Mutation_p.K639T|GIGYF2_uc002vtj.3_Missense_Mutation_p.K666T|GIGYF2_uc002vtk.3_Missense_Mutation_p.K645T|GIGYF2_uc002vth.3_Missense_Mutation_p.K639T|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.K476T|GIGYF2_uc002vtq.3_5'UTR	p.K645T	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	19	2271	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	645			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1934A>C	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179888	0.57800	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75477	-0.77;-0.78;-0.77;-0.78;-0.94;-0.78;-0.78;-0.93;-0.66	5.89	5.89	0.94794	.	0.126247	0.53938	D	0.000046	T	0.81351	0.4804	L	0.52364	1.645	0.40584	D	0.98142	D;D;B;D	0.89917	1.0;0.992;0.3;0.993	D;P;B;D	0.85130	0.997;0.719;0.066;0.968	T	0.80089	-0.1528	10	0.32370	T	0.25	-26.3248	12.1967	0.54300	0.8578:0.1422:0.0:0.0	.	476;666;645;639	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	T	667;588;645;667;645;645;588;639;666;639;476	ENSP00000362667:K667T;ENSP00000362664:K645T;ENSP00000386765:K667T;ENSP00000386537:K645T;ENSP00000404195:K588T;ENSP00000387070:K639T;ENSP00000387170:K666T;ENSP00000410297:K639T;ENSP00000411505:K476T	ENSP00000362664:K645T	K	+	2	0	GIGYF2	233384233	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	5.303000	0.65738	2.254000	0.74563	0.459000	0.35465	AAA		0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	60	0	0	0	0	7	60				
ESPNL	339768	broad.mit.edu	37	2	239040108	239040108	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:239040108G>A	ENST00000343063.3	+	9	3016	c.2753G>A	c.(2752-2754)gGc>gAc	p.G918D	ESPNL_ENST00000409506.1_Missense_Mutation_p.G550D|ESPNL_ENST00000409169.1_Missense_Mutation_p.G874D|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	918										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACCGACGGCTTCGAGGAC	0.706																																						uc002vxq.3		NA																	0				pancreas(1)	1						c.(2752-2754)GGC>GAC		espin-like							11.0	14.0	13.0					2																	239040108		2169	4245	6414	SO:0001583	missense	339768							g.chr2:239040108G>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2753G>A	2.37:g.239040108G>A	ENSP00000339115:p.Gly918Asp					ESPNL_uc010fyw.2_Missense_Mutation_p.G614D	p.G918D	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	2863	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	918					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2753G>A	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369099	0.82463	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.73789	-0.78;0.34;0.02	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000003	D	0.83069	0.5174	M	0.72118	2.19	0.52501	D	0.999959	D;D	0.76494	0.999;0.997	D;D	0.68621	0.959;0.911	D	0.84637	0.0693	10	0.72032	D	0.01	-24.3219	10.8622	0.46833	0.0922:0.0:0.9078:0.0	.	874;918	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	D	918;874;550	ENSP00000339115:G918D;ENSP00000386577:G874D;ENSP00000386579:G550D	ENSP00000339115:G918D	G	+	2	0	ESPNL	238704847	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.773000	0.85462	2.176000	0.68965	0.460000	0.39030	GGC		0.706	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		3	35	0	0	0	0	3	35				
ENTPD6	955	broad.mit.edu	37	20	25188018	25188018	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25188018A>C	ENST00000376652.4	+	3	524	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	ENTPD6_ENST00000360031.2_Missense_Mutation_p.T120P|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	121					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.T121P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCCAGTTCACCCGGCCCCC	0.642																																						uc002wuj.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(361-363)ACC>CCC		ectonucleoside triphosphate diphosphohydrolase 6							37.0	35.0	36.0					20																	25188018		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25188018A>C	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.361A>C	20.37:g.25188018A>C	ENSP00000365840:p.Thr121Pro					ENTPD6_uc010zsy.1_Missense_Mutation_p.T121P|ENTPD6_uc010gdj.1_Missense_Mutation_p.T93P|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.T104P|ENTPD6_uc010zta.1_Missense_Mutation_p.T121P|ENTPD6_uc002wun.2_Missense_Mutation_p.T121P|ENTPD6_uc002wuk.2_Missense_Mutation_p.T120P|ENTPD6_uc002wul.2_Missense_Mutation_p.T120P|ENTPD6_uc010ztb.1_Missense_Mutation_p.T93P|ENTPD6_uc010ztc.1_Missense_Mutation_p.T93P|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	p.T121P	NM_001247	NP_001238	O75354	ENTP6_HUMAN			3	541	+			121			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.361A>C	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	A	4.012	-0.000436	0.07819	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.07	-1.27	0.09347	.	0.678662	0.15029	N	0.284579	T	0.07413	0.0187	N	0.16233	0.39	0.09310	N	1	P;B;P;P;B;B;P;B	0.42203	0.507;0.324;0.614;0.773;0.244;0.408;0.545;0.403	B;B;B;B;B;B;B;B	0.43623	0.266;0.266;0.425;0.425;0.162;0.319;0.364;0.364	T	0.27331	-1.0077	10	0.30854	T	0.27	-3.5017	3.7147	0.08434	0.3745:0.0:0.4151:0.2104	.	103;121;121;121;104;120;120;121	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	P	104;120;17;121;103;103;121;120;104;121	ENSP00000347084:T104P;ENSP00000353131:T120P;ENSP00000365840:T121P;ENSP00000408098:T103P;ENSP00000395064:T103P;ENSP00000401895:T121P;ENSP00000398844:T120P;ENSP00000390511:T104P;ENSP00000390646:T121P	ENSP00000347084:T104P	T	+	1	0	ENTPD6	25136018	0.047000	0.20315	0.033000	0.17914	0.026000	0.11368	0.065000	0.14466	-0.066000	0.12998	-0.381000	0.06696	ACC		0.642	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			9	49	0	0	0	0	9	49				
NINL	22981	broad.mit.edu	37	20	25456758	25456758	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25456758C>T	ENST00000278886.6	-	17	3242	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1057					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTTTCCATGTCATCCTTCTCT	0.532																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3169-3171)GAC>AAC		ninein-like							127.0	109.0	115.0					20																	25456758		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456758C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3169G>A	20.37:g.25456758C>T	ENSP00000278886:p.Asp1057Asn					NINL_uc010gdn.1_Intron	p.D1057N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3243	-			1057			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3169G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364677	0.11296	.	.	ENSG00000101004	ENST00000278886	T	0.05580	3.42	4.85	3.89	0.44902	.	0.923379	0.09285	N	0.823206	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	0.999997	P	0.39480	0.675	B	0.31614	0.133	T	0.42050	-0.9474	10	0.27785	T	0.31	-2.3712	8.1597	0.31192	0.1799:0.6462:0.174:0.0	.	1057	Q9Y2I6	NINL_HUMAN	N	1057	ENSP00000278886:D1057N	ENSP00000278886:D1057N	D	-	1	0	NINL	25404758	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.772000	0.26647	1.002000	0.39104	0.561000	0.74099	GAC		0.532	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		33	108	0	0	0	0	33	108				
ZNF334	55713	broad.mit.edu	37	20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:45131154C>T	ENST00000347606.4	-	5	1006	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF334_ENST00000457685.2_Missense_Mutation_p.R237H|ZNF334_ENST00000593880.1_Missense_Mutation_p.R298H	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	275					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(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(823-825)CGT>CAT		zinc finger protein 334 isoform a							107.0	106.0	106.0					20																	45131154		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131154C>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.824G>A	20.37:g.45131154C>T	ENSP00000255129:p.Arg275His					ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	p.R275H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1008	-		Myeloproliferative disorder(115;0.0122)	275			C2H2-type 2.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.824G>A	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	1.804	-0.476450	0.04414	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08102	3.13;3.13	2.99	0.881	0.19166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	L	0.56340	1.77	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.09377	0.004;0.002;0.004	T	0.44467	-0.9326	9	0.15499	T	0.54	.	5.1626	0.15070	0.0:0.4581:0.4148:0.1271	.	237;275;298	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	H	237;275	ENSP00000402582:R237H;ENSP00000255129:R275H	ENSP00000255129:R275H	R	-	2	0	ZNF334	44564561	0.000000	0.05858	0.006000	0.13384	0.054000	0.15201	-3.585000	0.00423	0.101000	0.17610	0.591000	0.81541	CGT		0.413	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			15	113	0	0	0	0	15	113				
ZNF831	128611	broad.mit.edu	37	20	57767313	57767313	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:57767313C>T	ENST00000371030.2	+	1	1239	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	413							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCTCATCTCCCACAACCAGG	0.711																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1237-1239)TCC>TCT		zinc finger protein 831							14.0	18.0	17.0					20																	57767313		2023	4154	6177	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767313C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1239C>T	20.37:g.57767313C>T							p.S413S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1239	+	all_lung(29;0.0085)		413			Potential.		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1239C>T	CCDS42894.1																																																																																				0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	17	0	0	0	0	5	17				
CCT8L2	150160	broad.mit.edu	37	22	17072462	17072462	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:17072462T>A	ENST00000359963.3	-	1	1238	c.979A>T	c.(979-981)Agt>Tgt	p.S327C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	327					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACACCTCACTCAGGTAAATG	0.577																																						uc002zlp.1		NA																	0				ovary(1)	1						c.(979-981)AGT>TGT		T-complex protein 1							181.0	160.0	167.0					22																	17072462		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072462T>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.979A>T	22.37:g.17072462T>A	ENSP00000353048:p.Ser327Cys						p.S327C	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1239	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	327					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.979A>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-2.932957	0.00053	.	.	ENSG00000198445	ENST00000359963	T	0.79554	-1.28	1.98	1.98	0.26296	.	0.148048	0.30959	U	0.008523	T	0.58793	0.2147	N	0.12920	0.275	0.09310	N	0.999998	B	0.23377	0.084	B	0.23716	0.048	T	0.39292	-0.9621	10	0.13108	T	0.6	-8.1961	5.9203	0.19078	0.0:0.0:0.0:1.0	.	327	Q96SF2	TCPQM_HUMAN	C	327	ENSP00000353048:S327C	ENSP00000353048:S327C	S	-	1	0	CCT8L2	15452462	0.988000	0.35896	0.073000	0.20177	0.007000	0.05969	0.924000	0.28777	0.922000	0.37019	0.312000	0.20444	AGT		0.577	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			28	221	0	0	0	0	28	221				
LZTR1	8216	broad.mit.edu	37	22	21348279	21348279	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:21348279A>G	ENST00000215739.8	+	13	1779	c.1420A>G	c.(1420-1422)Atc>Gtc	p.I474V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.I455V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	474	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGCAGGAAGATCACGCAGGC	0.647																																						uc002zto.2		NA																	0				ovary(2)|lung(2)	4						c.(1420-1422)ATC>GTC		leucine-zipper-like transcription regulator 1							31.0	34.0	33.0					22																	21348279		2202	4300	6502	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21348279A>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1420A>G	22.37:g.21348279A>G	ENSP00000215739:p.Ile474Val					LZTR1_uc002ztn.2_Missense_Mutation_p.I433V|LZTR1_uc011ahy.1_Missense_Mutation_p.I455V|LZTR1_uc010gsr.1_Missense_Mutation_p.I345V|LZTR1_uc002ztp.2_5'Flank	p.I474V	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1523	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	474			BTB 1.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1420A>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013817	0.75161	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.66638	-0.22;-0.22	5.57	5.57	0.84162	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.048099	0.85682	D	0.000000	T	0.74558	0.3732	M	0.69823	2.125	0.58432	D	0.999999	P;P;B;B	0.46621	0.63;0.881;0.294;0.25	B;P;B;B	0.52031	0.389;0.688;0.206;0.074	T	0.75755	-0.3206	10	0.45353	T	0.12	-27.1816	13.6787	0.62469	1.0:0.0:0.0:0.0	.	455;433;474;433	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	V	433;474;455	ENSP00000215739:I474V;ENSP00000374006:I455V	ENSP00000215739:I474V	I	+	1	0	LZTR1	19678279	1.000000	0.71417	0.994000	0.49952	0.558000	0.35554	7.097000	0.76967	2.114000	0.64651	0.455000	0.32223	ATC		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	31	0	0	0	0	6	31				
AP1B1	162	broad.mit.edu	37	22	29754833	29754833	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:29754833T>A	ENST00000405198.1	-	4	438	c.407A>T	c.(406-408)tAt>tTt	p.Y136F	AP1B1_ENST00000402502.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y136F|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y136F|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y136F|AP1B1_ENST00000357586.2_Missense_Mutation_p.Y136F			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	136					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTGCGCACATATGGATCCTC	0.602																																						uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(406-408)TAT>TTT		adaptor-related protein complex 1 beta 1 subunit							131.0	95.0	107.0					22																	29754833		2203	4300	6503	SO:0001583	missense	162				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	protein binding|protein transporter activity	g.chr22:29754833T>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.407A>T	22.37:g.29754833T>A	ENSP00000384194:p.Tyr136Phe					AP1B1_uc003afi.2_Missense_Mutation_p.Y136F|AP1B1_uc003afk.2_Missense_Mutation_p.Y136F|AP1B1_uc003afl.2_Missense_Mutation_p.Y136F	p.Y136F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			5	591	-			136					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.407A>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	T	35	5.463237	0.96257	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92077	3.27	0.80722	D	1	D;D;D;P	0.65815	0.995;0.988;0.99;0.941	D;P;D;P	0.67231	0.914;0.875;0.95;0.748	T	0.77130	-0.2701	10	0.87932	D	0	-9.9494	15.4796	0.75514	0.0:0.0:0.0:1.0	.	136;136;136;136	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	F	136	ENSP00000350199:Y136F;ENSP00000348297:Y136F;ENSP00000400065:Y136F;ENSP00000384194:Y136F;ENSP00000319361:Y136F;ENSP00000386071:Y136F;ENSP00000387612:Y136F;ENSP00000400022:Y136F	ENSP00000319361:Y136F	Y	-	2	0	AP1B1	28084833	1.000000	0.71417	0.783000	0.31826	0.898000	0.52572	7.958000	0.87877	2.142000	0.66516	0.460000	0.39030	TAT		0.602	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		11	40	0	0	0	0	11	40				
MPPED1	758	broad.mit.edu	37	22	43830954	43830954	+	Splice_Site	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:43830954G>A	ENST00000417669.2	+	3	669	c.225G>A	c.(223-225)atG>atA	p.M75I	MPPED1_ENST00000538182.1_Splice_Site_p.M108I|MPPED1_ENST00000443721.1_Splice_Site_p.M75I|MPPED1_ENST00000414469.2_De_novo_Start_InFrame|MPPED1_ENST00000542779.1_Splice_Site_p.M75I|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	75							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTCCCTGCAGGGTGGACCCGG	0.647																																						uc011apv.1		NA																	0					0						c.(223-225)ATG>ATA		metallophosphoesterase domain containing 1							83.0	96.0	92.0					22																	43830954		2167	4252	6419	SO:0001630	splice_region_variant	758						hydrolase activity	g.chr22:43830954G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.225-1G>A	22.37:g.43830954G>A						MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.M75I|MPPED1_uc011apz.1_Missense_Mutation_p.M108I	p.M75I	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			3	448	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	75					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.225G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851371	0.51270	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.44482	0.99;0.92;0.99;0.99;0.97	4.81	4.81	0.61882	.	0.198633	0.51477	N	0.000091	T	0.30417	0.0764	L	0.27053	0.805	0.80722	D	1	B;B	0.32717	0.381;0.147	B;B	0.26614	0.071;0.024	T	0.07290	-1.0780	9	.	.	.	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	108;75	B7Z2S9;O15442	.;MPPD1_HUMAN	I	75;75;75;53;75;108	ENSP00000388137:M75I;ENSP00000335568:M75I;ENSP00000400686:M75I;ENSP00000444532:M75I;ENSP00000438335:M108I	.	M	+	3	0	MPPED1	42160898	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.206000	0.95056	2.374000	0.81015	0.561000	0.74099	ATG		0.647	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370	Missense_Mutation	15	150	0	0	0	0	15	150				
PLXNB2	23654	broad.mit.edu	37	22	50720046	50720046	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:50720046C>T	ENST00000449103.1	-	21	3611	c.3471G>A	c.(3469-3471)ccG>ccA	p.P1157P	PLXNB2_ENST00000359337.4_Silent_p.P1157P|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1157					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCTTGGGCGGGGGCTGCA	0.692																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3469-3471)CCG>CCA		plexin B2 precursor							27.0	35.0	32.0					22																	50720046		2075	4186	6261	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720046C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3471G>A	22.37:g.50720046C>T						PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.P142P	p.P1157P	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	21	3577	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1157			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3471G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721720	0.15372	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.33	-8.65	0.00870	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	T	0.50189	-0.8857	4	.	.	.	.	1.5161	0.02506	0.1847:0.184:0.2022:0.4292	.	.	.	.	H	175	.	.	R	-	2	0	PLXNB2	49062173	0.000000	0.05858	0.003000	0.11579	0.906000	0.53458	-4.328000	0.00252	-4.104000	0.00073	-0.258000	0.10820	CGC		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	67	0	0	0	0	10	67				
LRRN1	57633	broad.mit.edu	37	3	3887531	3887531	+	Silent	SNP	G	G	C	rs147557425	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:3887531G>C	ENST00000319331.3	+	2	1967	c.1206G>C	c.(1204-1206)ccG>ccC	p.P402P	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	402	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GTGCCATGCCGCCCGAATATA	0.483																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(1204-1206)CCG>CCC		leucine rich repeat neuronal 1 precursor							86.0	89.0	88.0					3																	3887531		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887531G>C	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1206G>C	3.37:g.3887531G>C						SUMF1_uc003bps.1_Intron	p.P402P	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1967	+			402			LRRCT.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1206G>C	CCDS33685.1																																																																																				0.483	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		26	79	0	0	0	0	26	79				
SLC6A11	6538	broad.mit.edu	37	3	10974928	10974928	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:10974928G>A	ENST00000254488.2	+	11	1529	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	488					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	ATCTGCATCGGCTGGGTGTAT	0.582																																						uc003bvz.2		NA																	0				skin(3)|ovary(1)	4						c.(1462-1464)GGC>GAC		solute carrier family 6 (neurotransmitter							187.0	152.0	164.0					3																	10974928		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10974928G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1463G>A	3.37:g.10974928G>A	ENSP00000254488:p.Gly488Asp						p.G488D	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	11	1497	+			488			Helical; Name=10; (Potential).		B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1463G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799960	0.70567	.	.	ENSG00000132164	ENST00000254488	T	0.77098	-1.07	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	H	0.96080	3.765	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.94526	0.7731	10	0.66056	D	0.02	.	17.4837	0.87682	0.0:0.0:1.0:0.0	.	488	P48066	S6A11_HUMAN	D	488	ENSP00000254488:G488D	ENSP00000254488:G488D	G	+	2	0	SLC6A11	10949928	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	3.616000	0.54174	2.204000	0.70986	0.313000	0.20887	GGC		0.582	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		4	171	0	0	0	0	4	171				
MITF	4286	broad.mit.edu	37	3	70008500	70008500	+	Missense_Mutation	SNP	C	C	T	rs372113245		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:70008500C>T	ENST00000448226.2	+	9	1235	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	MITF_ENST00000314557.6_Missense_Mutation_p.R257C|MITF_ENST00000531774.1_Missense_Mutation_p.R201C|MITF_ENST00000352241.4_Missense_Mutation_p.R364C|MITF_ENST00000328528.6_Missense_Mutation_p.R363C|MITF_ENST00000314589.5_Missense_Mutation_p.R348C|MITF_ENST00000472437.1_Missense_Mutation_p.R312C|MITF_ENST00000394355.2_Missense_Mutation_p.R339C|MITF_ENST00000394351.3_Missense_Mutation_p.R263C			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	370					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	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)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGAACAGCAACGCGCAAAAGA	0.463			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2		NA		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		0				ovary(2)	2						c.(1090-1092)CGC>TGC		microphthalmia-associated transcription factor		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	94.0	82.0	86.0		787,934,1087,769,1090,1042,601	6.1	0.9	3		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	MITF	NM_000248.3,NM_001184967.1,NM_006722.2,NM_198158.2,NM_198159.2,NM_198177.2,NM_198178.2	180,180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	263/420,312/469,363/520,257/414,364/521,348/505,201/358	70008500	1,13005	2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70008500C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1108C>T	3.37:g.70008500C>T	ENSP00000391803:p.Arg370Cys					MITF_uc011bgb.1_Missense_Mutation_p.R312C|MITF_uc003doa.2_Missense_Mutation_p.R363C|MITF_uc003dob.2_Missense_Mutation_p.R348C|MITF_uc003dod.2_Missense_Mutation_p.R339C|MITF_uc003doe.2_Missense_Mutation_p.R257C|MITF_uc003dof.2_Missense_Mutation_p.R263C	p.R364C	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	9	1206	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	370					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1090C>T		.	.	.	.	.	.	.	.	.	.	C	29.2	4.987011	0.93106	0.0	1.16E-4	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	D;D;D;D;D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.78801	2.425	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	0.91635	0.991;0.992;0.992;0.998;0.998;0.999;0.998	D	0.98196	1.0465	9	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	312;263;257;339;348;363;364	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	C	364;370;312;363;354;348;339;257;263;201	ENSP00000295600:R364C;ENSP00000391803:R370C;ENSP00000418845:R312C;ENSP00000327867:R363C;ENSP00000398639:R354C;ENSP00000324443:R348C;ENSP00000377884:R339C;ENSP00000324246:R257C;ENSP00000377880:R263C;ENSP00000435909:R201C	.	R	+	1	0	MITF	70091190	1.000000	0.71417	0.912000	0.35992	0.974000	0.67602	5.030000	0.64128	2.882000	0.98803	0.655000	0.94253	CGC		0.463	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		8	35	0	0	0	0	8	35				
OR5H14	403273	broad.mit.edu	37	3	97868271	97868271	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:97868271C>T	ENST00000437310.1	+	1	102	c.42C>T	c.(40-42)ctC>ctT	p.L14L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	14						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTTGTTCTCACAGGATTTT	0.403																																						uc003dsg.1		NA																	0				skin(1)	1						c.(40-42)CTC>CTT		olfactory receptor, family 5, subfamily H,							50.0	54.0	53.0					3																	97868271		2201	4274	6475	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868271C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.42C>T	3.37:g.97868271C>T							p.L14L	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	42	+			14			Extracellular (Potential).		B9EH15	Silent	SNP	ENST00000437310.1	37	c.42C>T	CCDS33798.1																																																																																				0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			18	167	0	0	0	0	18	167				
ABI3BP	25890	broad.mit.edu	37	3	100469363	100469363	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:100469363C>T	ENST00000284322.5	-	35	3313	c.3204G>A	c.(3202-3204)ggG>ggA	p.G1068G	ABI3BP_ENST00000383691.4_Silent_p.G1022G|ABI3BP_ENST00000471714.1_Silent_p.G1770G	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1068					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAATTGTAGTCCCACATTCAT	0.388																																						uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(3202-3204)GGG>GGA		ABI gene family, member 3 (NESH) binding protein							151.0	146.0	147.0					3																	100469363		1878	4111	5989	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100469363C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.3204G>A	3.37:g.100469363C>T						ABI3BP_uc003duj.2_Silent_p.G648G|ABI3BP_uc003duk.2_Silent_p.G777G|ABI3BP_uc003dul.2_Silent_p.G898G|ABI3BP_uc011bhd.1_Silent_p.G1022G|ABI3BP_uc003dum.2_Silent_p.G479G	p.G1068G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			35	3289	-			1068					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.3204G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730420	0.15507	.	.	ENSG00000154175	ENST00000495591	T	0.61627	0.09	5.93	1.72	0.24424	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59941	-0.7359	7	0.87932	D	0	-3.2446	5.2283	0.15408	0.0:0.275:0.4078:0.3172	.	.	.	.	E	1124	ENSP00000418817:G1124E	ENSP00000418817:G1124E	G	-	2	0	ABI3BP	101952053	0.393000	0.25237	1.000000	0.80357	0.994000	0.84299	-0.312000	0.08113	0.856000	0.35383	-0.119000	0.15052	GGA		0.388	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			9	130	0	0	0	0	9	130				
MORC1	27136	broad.mit.edu	37	3	108746688	108746688	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:108746688G>A	ENST00000483760.1	-	17	1657	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	MORC1_ENST00000232603.5_Silent_p.S538S					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						GTGATATTGTGCTCATGGTGC	0.398																																						uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1612-1614)AGC>AGT		MORC family CW-type zinc finger 1							168.0	156.0	160.0					3																	108746688		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108746688G>A	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.1614C>T	3.37:g.108746688G>A						MORC1_uc011bhn.1_Silent_p.S538S	p.S538S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			17	1701	-			538						Silent	SNP	ENST00000483760.1	37	c.1614C>T																																																																																					0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			17	79	0	0	0	0	17	79				
DPPA2	151871	broad.mit.edu	37	3	109023367	109023367	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109023367G>T	ENST00000478945.1	-	7	1055	c.809C>A	c.(808-810)tCc>tAc	p.S270Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	270					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCCTGGGGATGGGAAAAT	0.478																																						uc003dxo.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(808-810)TCC>TAC		developmental pluripotency associated 2							75.0	71.0	72.0					3																	109023367		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023367G>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.809C>A	3.37:g.109023367G>T	ENSP00000417710:p.Ser270Tyr						p.S270Y	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			7	1056	-			270					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.809C>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396711	0.25205	.	.	ENSG00000163530	ENST00000478945	T	0.34072	1.38	5.2	2.34	0.29019	.	1.048650	0.07482	N	0.904142	T	0.39682	0.1087	L	0.36672	1.1	0.09310	N	1	P	0.46952	0.887	P	0.52267	0.694	T	0.25641	-1.0126	10	0.87932	D	0	3.0E-4	5.9715	0.19355	0.0893:0.0:0.5646:0.346	.	270	Q7Z7J5	DPPA2_HUMAN	Y	270	ENSP00000417710:S270Y	ENSP00000417710:S270Y	S	-	2	0	DPPA2	110506057	0.047000	0.20315	0.000000	0.03702	0.156000	0.22039	0.636000	0.24644	0.302000	0.22762	0.555000	0.69702	TCC		0.478	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		17	53	1	0	9.17e-09	1.13e-08	17	53				
DPPA4	55211	broad.mit.edu	37	3	109047778	109047778	+	Silent	SNP	C	C	T	rs370990673		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109047778C>T	ENST00000335658.6	-	6	891	c.837G>A	c.(835-837)ccG>ccA	p.P279P	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	279					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTCAAGGTGCGGGGGTGGAA	0.463																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(835-837)CCG>CCA		developmental pluripotency associated 4		C		1,4405	2.1+/-5.4	0,1,2202	58.0	52.0	54.0		837	-6.3	0.0	3		54	0,8600		0,0,4300	no	coding-synonymous	DPPA4	NM_018189.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		279/305	109047778	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109047778C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.837G>A	3.37:g.109047778C>T						DPPA4_uc011bho.1_Missense_Mutation_p.A181T	p.P279P	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	892	-			279					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.837G>A	CCDS33814.1																																																																																				0.463	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		12	40	0	0	0	0	12	40				
GOLGB1	2804	broad.mit.edu	37	3	121414052	121414052	+	Missense_Mutation	SNP	G	G	C	rs374186105		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:121414052G>C	ENST00000340645.5	-	13	5428	c.5303C>G	c.(5302-5304)tCt>tGt	p.S1768C	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1773C	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1768					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTTGTTTAGATACATTACC	0.393																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(5302-5304)TCT>TGT		golgi autoantigen, golgin subfamily b,							280.0	260.0	267.0					3																	121414052		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414052G>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5303C>G	3.37:g.121414052G>C	ENSP00000341848:p.Ser1768Cys					GOLGB1_uc010hrc.2_Missense_Mutation_p.S1773C|GOLGB1_uc003eej.3_Missense_Mutation_p.S1734C|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1654C|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1732C	p.S1768C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5429	-			1768			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5303C>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447244	0.12223	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.8	2.98	0.34508	.	0.680515	0.13308	N	0.397730	T	0.29620	0.0739	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.61697	0.988;0.988;0.988;0.99	P;P;P;P	0.53360	0.614;0.724;0.614;0.708	T	0.10965	-1.0607	10	0.56958	D	0.05	.	6.1634	0.20376	0.1642:0.0:0.6846:0.1512	.	1693;1773;1773;1768	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	C	1768;1773	ENSP00000341848:S1768C;ENSP00000377275:S1773C	ENSP00000341848:S1768C	S	-	2	0	GOLGB1	122896742	0.005000	0.15991	0.000000	0.03702	0.556000	0.35491	1.359000	0.34113	0.331000	0.23511	0.563000	0.77884	TCT		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		20	226	0	0	0	0	20	226				
PLCH1	23007	broad.mit.edu	37	3	155314050	155314050	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:155314050C>T	ENST00000340059.7	-	2	160	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	PLCH1_ENST00000460012.1_Missense_Mutation_p.R36Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R36Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R54Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R54Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R36Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTAGAGGGTCGCCATCGGAG	0.498																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(160-162)CGA>CAA		phospholipase C eta 1 isoform a							164.0	167.0	166.0					3																	155314050		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155314050C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.161G>A	3.37:g.155314050C>T	ENSP00000345988:p.Arg54Gln					PLCH1_uc011boj.1_Missense_Mutation_p.R54Q|PLCH1_uc011bol.1_Missense_Mutation_p.R36Q	p.R54Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	438	-			54			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.161G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738030	0.69304	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.100065	0.37715	N	0.001979	T	0.67748	0.2926	L	0.43152	1.355	0.48830	D	0.999719	P;B;D	0.65815	0.57;0.136;0.995	B;B;P	0.54270	0.16;0.035;0.747	T	0.68526	-0.5385	10	0.44086	T	0.13	.	18.2892	0.90123	0.0:1.0:0.0:0.0	.	36;54;54	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	54;36;54;54;36;36	ENSP00000419100:R54Q;ENSP00000417502:R36Q;ENSP00000402759:R54Q;ENSP00000345988:R54Q;ENSP00000335469:R36Q;ENSP00000412977:R36Q	ENSP00000335469:R36Q	R	-	2	0	PLCH1	156796744	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	4.734000	0.62043	2.311000	0.77944	0.655000	0.94253	CGA		0.498	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		55	195	0	0	0	0	55	195				
SI	6476	broad.mit.edu	37	3	164760860	164760860	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:164760860G>A	ENST00000264382.3	-	17	2053	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	664	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATATCCGTCAGAATTATGGTT	0.358										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1990-1992)TCT>TTT		sucrase-isomaltase	Acarbose(DB00284)						87.0	88.0	88.0					3																	164760860		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164760860G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1991C>T	3.37:g.164760860G>A	ENSP00000264382:p.Ser664Phe	HNSCC(35;0.089)					p.S664F	NM_001041	NP_001032	P14410	SUIS_HUMAN			17	2053	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	664			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1991C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674719	0.29693	.	.	ENSG00000090402	ENST00000264382	D	0.91894	-2.93	5.87	0.559	0.17272	Glycoside hydrolase, superfamily (1);	0.106949	0.64402	D	0.000006	D	0.93158	0.7821	M	0.66439	2.03	0.20975	N	0.999811	P	0.48350	0.909	P	0.49528	0.614	D	0.88993	0.3416	10	0.87932	D	0	.	20.4714	0.99163	0.0:0.6642:0.3358:0.0	.	664	P14410	SUIS_HUMAN	F	664	ENSP00000264382:S664F	ENSP00000264382:S664F	S	-	2	0	SI	166243554	0.835000	0.29415	0.393000	0.26258	0.021000	0.10359	1.810000	0.38932	0.149000	0.19098	-0.165000	0.13383	TCT		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		14	73	0	0	0	0	14	73				
CCDC149	91050	broad.mit.edu	37	4	24854761	24854761	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:24854761T>C	ENST00000389609.4	-	5	448	c.305A>G	c.(304-306)aAt>aGt	p.N102S	CCDC149_ENST00000428116.2_Missense_Mutation_p.N47S|CCDC149_ENST00000502801.1_Missense_Mutation_p.N102S|CCDC149_ENST00000504487.1_Missense_Mutation_p.N102S	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	47										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CAGATGTTTATTTCGGTCCTG	0.413																																						uc011bxr.1		NA																	0					0						c.(304-306)AAT>AGT		coiled-coil domain containing 149 isoform 1							189.0	191.0	190.0					4																	24854761		2203	4299	6502	SO:0001583	missense	91050							g.chr4:24854761T>C		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.305A>G	4.37:g.24854761T>C	ENSP00000374260:p.Asn102Ser					CCDC149_uc003grc.2_Missense_Mutation_p.N102S|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Missense_Mutation_p.N102S|CCDC149_uc003gre.2_Missense_Mutation_p.N47S|CCDC149_uc011bxq.1_5'UTR	p.N102S	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN			5	449	-		Breast(46;0.173)	102					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	c.305A>G	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	13.40	2.225509	0.39300	.	.	ENSG00000181982	ENST00000504487;ENST00000428116;ENST00000389609;ENST00000502801;ENST00000382116;ENST00000503881	.	.	.	5.72	4.52	0.55395	.	0.316986	0.42294	D	0.000726	T	0.62563	0.2438	M	0.80422	2.495	0.34330	D	0.687605	B;B;B	0.32031	0.352;0.273;0.303	B;B;B	0.38683	0.209;0.279;0.133	T	0.70550	-0.4841	9	0.36615	T	0.2	-18.5017	11.4719	0.50275	0.0:0.0:0.1498:0.8502	.	47;102;102	Q6ZUS6;D6RIA9;G5EA04	CC149_HUMAN;.;.	S	102;47;102;102;26;47	.	ENSP00000371550:N26S	N	-	2	0	CCDC149	24463859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.884000	0.39668	1.068000	0.40764	0.533000	0.62120	AAT		0.413	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		16	83	0	0	0	0	16	83				
PLK4	10733	broad.mit.edu	37	4	128807211	128807211	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:128807211A>T	ENST00000270861.5	+	5	960	c.686A>T	c.(685-687)gAa>gTa	p.E229V	PLK4_ENST00000515069.1_Missense_Mutation_p.E229V|PLK4_ENST00000514379.1_Missense_Mutation_p.E188V|PLK4_ENST00000513090.1_Missense_Mutation_p.E197V|PLK4_ENST00000507249.1_Missense_Mutation_p.E229V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGATTATGAAATGCCATCT	0.398																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NA																	0					0						c.(685-687)GAA>GTA		polo-like kinase 4							146.0	152.0	150.0					4																	128807211		2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807211A>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.686A>T	4.37:g.128807211A>T	ENSP00000270861:p.Glu229Val					PLK4_uc011cgs.1_Missense_Mutation_p.E197V|PLK4_uc011cgt.1_Missense_Mutation_p.E188V	p.E229V	NM_014264	NP_055079	O00444	PLK4_HUMAN			5	931	+			229			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.686A>T	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483854	0.44147	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.91	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.515855	0.21776	N	0.069293	T	0.58192	0.2105	L	0.42581	1.335	0.44531	D	0.997488	B;B	0.21071	0.051;0.033	B;B	0.26517	0.042;0.07	T	0.54476	-0.8288	10	0.30078	T	0.28	-11.921	11.434	0.50058	0.9302:0.0:0.0698:0.0	.	197;229	O00444-2;O00444	.;PLK4_HUMAN	V	229;229;197;229;188	ENSP00000270861:E229V;ENSP00000421774:E229V;ENSP00000427554:E197V;ENSP00000423412:E229V;ENSP00000423582:E188V	ENSP00000270861:E229V	E	+	2	0	PLK4	129026661	1.000000	0.71417	0.860000	0.33809	0.997000	0.91878	5.879000	0.69690	2.261000	0.74972	0.533000	0.62120	GAA		0.398	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			10	131	0	0	0	0	10	131				
ZNF827	152485	broad.mit.edu	37	4	146807157	146807157	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:146807157C>T	ENST00000508784.1	-	4	1647	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	ZNF827_ENST00000513320.1_Missense_Mutation_p.V124I|ZNF827_ENST00000379448.4_Missense_Mutation_p.V474I			Q17R98	ZN827_HUMAN	zinc finger protein 827	474					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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GATCCCTTGACATCTGGGTCT	0.567																																						uc003ikn.2		NA																	0					0						c.(1420-1422)GTC>ATC		zinc finger protein 827							112.0	98.0	103.0					4																	146807157		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807157C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1420G>A	4.37:g.146807157C>T	ENSP00000421863:p.Val474Ile					ZNF827_uc003ikm.2_Missense_Mutation_p.V474I|ZNF827_uc010iox.2_Missense_Mutation_p.V124I	p.V474I	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1468	-	all_hematologic(180;0.151)		474					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1420G>A		.	.	.	.	.	.	.	.	.	.	C	15.53	2.861950	0.51482	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.07327	3.26;3.2;3.3	5.41	5.41	0.78517	.	0.297053	0.38720	N	0.001586	T	0.05410	0.0143	N	0.12182	0.205	0.36810	D	0.885826	B;B;B	0.13145	0.007;0.004;0.007	B;B;B	0.14578	0.011;0.003;0.007	T	0.42965	-0.9420	10	0.24483	T	0.36	-9.8554	12.5281	0.56098	0.0:0.9238:0.0:0.0762	.	124;474;474	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	I	474;124;474;473;124	ENSP00000421863:V474I;ENSP00000423130:V124I;ENSP00000368761:V474I	ENSP00000281318:V473I	V	-	1	0	ZNF827	147026607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.665000	0.54532	2.540000	0.85666	0.561000	0.74099	GTC		0.567	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		9	65	0	0	0	0	9	65				
FSTL5	56884	broad.mit.edu	37	4	162306902	162306902	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:162306902G>A	ENST00000306100.5	-	16	2977	c.2541C>T	c.(2539-2541)gcC>gcT	p.A847A	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.A846A|FSTL5_ENST00000379164.4_Silent_p.A846A|FSTL5_ENST00000427802.2_Silent_p.A837A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	847						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGGGTTTTTAGGCATCTCCAA	0.338																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2539-2541)GCC>GCT		follistatin-like 5 isoform a							105.0	104.0	104.0					4																	162306902		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162306902G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2541C>T	4.37:g.162306902G>A						FSTL5_uc003iqi.2_Silent_p.A846A|FSTL5_uc010iqv.2_Silent_p.A837A|uc010iqu.1_Intron	p.A847A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2977	-	all_hematologic(180;0.24)		847					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.2541C>T	CCDS3802.1																																																																																				0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	81	0	0	0	0	10	81				
ACSL1	2180	broad.mit.edu	37	4	185681655	185681655	+	Splice_Site	SNP	C	C	T	rs111329654		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:185681655C>T	ENST00000515030.1	-	18	1964		c.e18-1		ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site|ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000513317.1_Splice_Site			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGCCATTCTGTTGATCAG	0.423																																						uc003iww.2		NA																	0				ovary(2)	2						c.e18-1		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						226.0	246.0	239.0					4																	185681655		2203	4300	6503	SO:0001630	splice_region_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681655C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1639-1G>A	4.37:g.185681655C>T						ACSL1_uc011ckm.1_Splice_Site_p.N376_splice|ACSL1_uc003iwt.1_Splice_Site_p.N547_splice|ACSL1_uc003iwu.1_Splice_Site_p.N547_splice|ACSL1_uc011ckn.1_Splice_Site_p.N513_splice|ACSL1_uc003iws.1_Splice_Site_p.N107_splice	p.N547_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	1933	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)						B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Splice_Site	SNP	ENST00000515030.1	37	c.1639_splice	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704018	0.88924	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7533	0.96277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACSL1	185918649	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.658000	0.83755	2.673000	0.90976	0.650000	0.86243	.		0.423	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	Intron	44	337	0	0	0	0	44	337				
DHX29	54505	broad.mit.edu	37	5	54565331	54565331	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:54565331C>T	ENST00000251636.5	-	21	3352	c.3204G>A	c.(3202-3204)ccG>ccA	p.P1068P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1068						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)				GTTGGCCCAACGGAGTCAGTT	0.443																																						uc003jpx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3202-3204)CCG>CCA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							111.0	98.0	102.0					5																	54565331		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54565331C>T	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.3204G>A	5.37:g.54565331C>T						DHX29_uc010ivw.2_RNA	p.P1068P	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			21	3324	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1068					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.3204G>A	CCDS34158.1																																																																																				0.443	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		7	32	0	0	0	0	7	32				
IPO11	51194	broad.mit.edu	37	5	61779883	61779883	+	Missense_Mutation	SNP	C	C	G	rs535480661		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:61779883C>G	ENST00000325324.6	+	11	1237	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	IPO11_ENST00000409296.3_Missense_Mutation_p.F396L|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	356					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATGGCATTCTTCACATATC	0.353																																						uc003jtc.2		NA																	0				lung(2)|skin(2)	4						c.(1066-1068)TTC>TTG		Ran binding protein 11 isoform 2							80.0	81.0	81.0					5																	61779883		2203	4295	6498	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61779883C>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1068C>G	5.37:g.61779883C>G	ENSP00000316651:p.Phe356Leu					IPO11_uc011cqr.1_Missense_Mutation_p.F396L|IPO11_uc003jtb.1_Missense_Mutation_p.F356L	p.F356L	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	11	1258	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	356			HEAT 3.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1068C>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386991	0.82902	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.65916	-0.18;-0.18	5.39	3.53	0.40419	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.42686	1.345	0.80722	D	1	D;D	0.71674	0.984;0.998	P;D	0.65010	0.833;0.931	T	0.61431	-0.7064	10	0.33940	T	0.23	.	8.7319	0.34505	0.0:0.7153:0.0:0.2847	.	396;356	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	L	356;396	ENSP00000316651:F356L;ENSP00000386992:F396L	ENSP00000316651:F356L	F	+	3	2	IPO11	61815640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.301000	0.51842	0.569000	0.29329	0.563000	0.77884	TTC		0.353	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		9	62	0	0	0	0	9	62				
PCDHB14	56122	broad.mit.edu	37	5	140603276	140603276	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:140603276G>A	ENST00000239449.4	+	1	199	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCGGGTAGTGTCTGATGA	0.493																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(199-201)GTG>ATG		protocadherin beta 14 precursor							114.0	119.0	117.0					5																	140603276		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603276G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.199G>A	5.37:g.140603276G>A	ENSP00000239449:p.Val67Met					PCDHB14_uc011dal.1_Intron	p.V67M	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	199	+			67			Extracellular (Potential).|Cadherin 1.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.199G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.32	2.797605	0.50208	.	.	ENSG00000120327	ENST00000239449	T	0.33216	1.42	4.93	2.19	0.27852	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.37571	0.1008	M	0.82132	2.575	0.28347	N	0.921083	P	0.38420	0.63	B	0.39152	0.292	T	0.29882	-0.9997	9	0.72032	D	0.01	.	10.0298	0.42094	0.2243:0.0:0.7757:0.0	.	67	Q9Y5E9	PCDBE_HUMAN	M	67	ENSP00000239449:V67M	ENSP00000239449:V67M	V	+	1	0	PCDHB14	140583460	0.240000	0.23847	0.936000	0.37596	0.990000	0.78478	1.991000	0.40727	0.228000	0.21019	-0.137000	0.14449	GTG		0.493	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		14	106	0	0	0	0	14	106				
POU4F3	5459	broad.mit.edu	37	5	145719962	145719962	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:145719962C>T	ENST00000230732.4	+	2	1061	c.972C>T	c.(970-972)aaC>aaT	p.N324N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	324					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCTGCAACCAGAGACAGA	0.552																																						uc003loa.2		NA																	0					0						c.(970-972)AAC>AAT		POU class 4 homeobox 3							55.0	53.0	53.0					5																	145719962		2203	4300	6503	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719962C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.972C>T	5.37:g.145719962C>T							p.N324N	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1061	+			324			Homeobox.		O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.972C>T	CCDS4281.1																																																																																				0.552	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		7	74	0	0	0	0	7	74				
KIAA0319	9856	broad.mit.edu	37	6	24564520	24564520	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:24564520G>C	ENST00000378214.3	-	15	2865	c.2341C>G	c.(2341-2343)Ctg>Gtg	p.L781V	KIAA0319_ENST00000535378.1_Missense_Mutation_p.L772V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L736V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	781	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						CCCTCCACCAGATTCGTAAGC	0.567																																						uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(2341-2343)CTG>GTG		KIAA0319 precursor							108.0	91.0	97.0					6																	24564520		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24564520G>C	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.2341C>G	6.37:g.24564520G>C	ENSP00000367459:p.Leu781Val					KIAA0319_uc011djp.1_Missense_Mutation_p.L736V|KIAA0319_uc003neh.1_Missense_Mutation_p.L781V|KIAA0319_uc011djq.1_Missense_Mutation_p.L772V|KIAA0319_uc011djr.1_Missense_Mutation_p.L781V|KIAA0319_uc010jpt.1_Missense_Mutation_p.L192V	p.L781V	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			15	2578	-			781			PKD 5.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2341C>G	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854972	0.71719	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.15	3.28	0.37604	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.56097	D	0.000029	T	0.22437	0.0541	M	0.71920	2.185	0.50813	D	0.999892	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.997;0.996;0.998	T	0.01301	-1.1391	10	0.42905	T	0.14	-10.0103	11.744	0.51809	0.0863:0.0:0.9137:0.0	.	781;772;781	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	V	781;772;736;781;781	ENSP00000439700:L781V;ENSP00000442403:L772V;ENSP00000401086:L736V;ENSP00000367459:L781V;ENSP00000437656:L781V	ENSP00000367459:L781V	L	-	1	2	KIAA0319	24672499	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.600000	0.74132	0.944000	0.37579	0.655000	0.94253	CTG		0.567	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		14	86	0	0	0	0	14	86				
HIST1H2BE	8344	broad.mit.edu	37	6	26184294	26184294	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:26184294A>G	ENST00000356530.3	+	1	337	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	91					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CTCGACCATCACCTCCAGGGA	0.607																																						uc003ngt.2		NA																	0					0						c.(271-273)ACC>GCC		histone cluster 1, H2be							69.0	73.0	72.0					6																	26184294		2202	4297	6499	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184294A>G	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.271A>G	6.37:g.26184294A>G	ENSP00000348924:p.Thr91Ala						p.T91A	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	271	+			91					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.271A>G	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	17.69	3.450679	0.63290	.	.	ENSG00000197697	ENST00000356530	T	0.36520	1.25	4.96	4.96	0.65561	.	0.000000	0.47852	U	0.000214	T	0.41488	0.1161	.	.	.	0.37788	D	0.927253	.	.	.	.	.	.	T	0.42916	-0.9423	7	0.56958	D	0.05	.	13.7936	0.63157	1.0:0.0:0.0:0.0	.	.	.	.	A	91	ENSP00000348924:T91A	ENSP00000348924:T91A	T	+	1	0	HIST1H2BE	26292273	1.000000	0.71417	0.995000	0.50966	0.786000	0.44442	6.957000	0.76019	2.005000	0.58758	0.438000	0.28831	ACC		0.607	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		11	134	0	0	0	0	11	134				
TRIM15	89870	broad.mit.edu	37	6	30140093	30140093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:30140093G>A	ENST00000376694.4	+	7	1834	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	455	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TTGCCGTCTGGAAAAAAGGTT	0.637																																						uc010jrx.2		NA																	0					0						c.(1363-1365)TGG>TGA		tripartite motif protein 15							36.0	45.0	41.0					6																	30140093		1506	2707	4213	SO:0001587	stop_gained	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30140093G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1365G>A	6.37:g.30140093G>A	ENSP00000365884:p.Trp455*						p.W455*	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			7	1844	+			455			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Nonsense_Mutation	SNP	ENST00000376694.4	37	c.1365G>A	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	39	7.446728	0.98289	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	.	.	.	5.13	5.13	0.70059	.	0.000000	0.41823	U	0.000811	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0725	0.64868	0.0:0.0:1.0:0.0	.	.	.	.	X	386;455	.	ENSP00000365884:W455X	W	+	3	0	TRIM15	30248072	0.888000	0.30383	0.927000	0.36925	0.284000	0.27059	0.860000	0.27871	2.371000	0.80710	0.478000	0.44815	TGG		0.637	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		10	54	0	0	0	0	10	54				
GLO1	2739	broad.mit.edu	37	6	38649810	38649810	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:38649810T>C	ENST00000373365.4	-	5	530	c.444A>G	c.(442-444)aaA>aaG	p.K148K	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	148					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCTTCACAAATTTGACTCCCA	0.413																																						uc003ooc.2		NA																	0				ovary(1)	1						c.(442-444)AAA>AAG		glyoxalase I	Glutathione(DB00143)						132.0	121.0	125.0					6																	38649810		2203	4300	6503	SO:0001819	synonymous_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38649810T>C	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.444A>G	6.37:g.38649810T>C							p.K148K	NM_006708	NP_006699	Q04760	LGUL_HUMAN			5	566	-			148					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	c.444A>G	CCDS4837.1																																																																																				0.413	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		10	75	0	0	0	0	10	75				
ZNF318	24149	broad.mit.edu	37	6	43322834	43322834	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:43322834T>C	ENST00000361428.2	-	4	2315	c.2238A>G	c.(2236-2238)ccA>ccG	p.P746P	ZNF318_ENST00000318149.3_Silent_p.P746P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	746					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGGGGCAGATGGGGCTGATG	0.512																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2236-2238)CCA>CCG		zinc finger protein 318							129.0	122.0	124.0					6																	43322834		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322834T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2238A>G	6.37:g.43322834T>C						ZNF318_uc003ouw.2_RNA	p.P746P	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2316	-			746					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.2238A>G	CCDS4895.2																																																																																				0.512	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		17	81	0	0	0	0	17	81				
CRISP3	10321	broad.mit.edu	37	6	49704206	49704206	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:49704206A>G	ENST00000393666.1	-	2	93	c.87T>C	c.(85-87)acT>acC	p.T29T	CRISP3_ENST00000371159.4_Silent_p.T60T|CRISP3_ENST00000263045.4_Silent_p.T42T|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000433368.2_Silent_p.T52T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	29					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTAACAAAGCAGTAAAAGCGG	0.378																																						uc003ozs.2		NA																	0				skin(2)	2						c.(85-87)ACT>ACC		cysteine-rich secretory protein 3 precursor							176.0	168.0	171.0					6																	49704206		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704206A>G	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.87T>C	6.37:g.49704206A>G							p.T29T	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	102	-	Lung NSC(77;0.0161)		29					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.87T>C																																																																																					0.378	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		23	190	0	0	0	0	23	190				
COL21A1	81578	broad.mit.edu	37	6	55925556	55925556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:55925556C>T	ENST00000244728.5	-	27	2787	c.2390G>A	c.(2389-2391)tGc>tAc	p.C797Y	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.C797Y|COL21A1_ENST00000370819.1_Missense_Mutation_p.C794Y|COL21A1_ENST00000370808.2_Missense_Mutation_p.C197Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	797					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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCG	0.299																																						uc003pcs.2		NA																	0				ovary(2)	2						c.(2389-2391)TGC>TAC		collagen, type XXI, alpha 1 precursor							59.0	57.0	58.0					6																	55925556		1814	4078	5892	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55925556C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2390G>A	6.37:g.55925556C>T	ENSP00000244728:p.Cys797Tyr					COL21A1_uc010jzz.2_Missense_Mutation_p.C182Y|COL21A1_uc011dxg.1_Missense_Mutation_p.C170Y|COL21A1_uc011dxh.1_Missense_Mutation_p.C182Y|COL21A1_uc003pcr.2_Missense_Mutation_p.C154Y	p.C797Y	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		27	2622	-	Lung NSC(77;0.0483)		797					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2390G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988025	0.35036	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.93247	-2.66;-2.62;-2.67;-3.19	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000004	D	0.94241	0.8151	L	0.36672	1.1	0.52501	D	0.999959	D;D;D;D	0.76494	0.999;0.998;0.995;0.999	D;D;D;D	0.85130	0.997;0.994;0.986;0.995	D	0.95132	0.8256	10	0.72032	D	0.01	.	18.4476	0.90690	0.0:1.0:0.0:0.0	.	197;797;797;154	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	Y	797;794;797;794;197	ENSP00000244728:C797Y;ENSP00000359855:C794Y;ENSP00000444384:C797Y;ENSP00000359844:C197Y	ENSP00000244728:C797Y	C	-	2	0	COL21A1	56033515	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.380000	0.66202	2.431000	0.82371	0.655000	0.94253	TGC		0.299	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			7	66	0	0	0	0	7	66				
FAM135A	57579	broad.mit.edu	37	6	71232224	71232224	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:71232224A>G	ENST00000418814.2	+	13	1652	c.1038A>G	c.(1036-1038)agA>agG	p.R346R	FAM135A_ENST00000370479.3_Silent_p.R329R|FAM135A_ENST00000505769.1_Silent_p.R346R|FAM135A_ENST00000361499.3_Silent_p.R346R|FAM135A_ENST00000457062.2_Silent_p.R329R|FAM135A_ENST00000505868.1_Silent_p.R346R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGGTACGCAGATTTTCTGAGG	0.348																																						uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(1036-1038)AGA>AGG		hypothetical protein LOC57579 isoform c							146.0	157.0	153.0					6																	71232224		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71232224A>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1038A>G	6.37:g.71232224A>G						FAM135A_uc003pfi.2_Silent_p.R346R|FAM135A_uc003pfh.2_Silent_p.R329R|FAM135A_uc003pfk.2_Silent_p.R372R|FAM135A_uc003pfl.2_Silent_p.R209R|FAM135A_uc003pfn.2_5'Flank|FAM135A_uc003pfo.1_5'Flank	p.R346R	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			11	1171	+			346					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.1038A>G	CCDS55028.1																																																																																				0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		14	144	0	0	0	0	14	144				
SIM1	6492	broad.mit.edu	37	6	100838427	100838427	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100838427T>C	ENST00000369208.3	-	12	2893	c.2111A>G	c.(2110-2112)cAg>cGg	p.Q704R	SIM1_ENST00000262901.4_Missense_Mutation_p.Q704R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	704	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCAAAATACTGCCGGTGAGA	0.448																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(2110-2112)CAG>CGG		single-minded homolog 1							116.0	113.0	114.0					6																	100838427		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838427T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2111A>G	6.37:g.100838427T>C	ENSP00000358210:p.Gln704Arg					SIM1_uc010kcu.2_Missense_Mutation_p.Q704R	p.Q704R	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2318	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	704			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2111A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735215	0.48939	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03717	3.83;3.83	6.16	6.16	0.99307	Single-minded, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02119	0.0066	N	0.24115	0.695	0.58432	D	0.999996	P	0.49783	0.928	B	0.42692	0.395	T	0.59568	-0.7430	10	0.56958	D	0.05	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	704	P81133	SIM1_HUMAN	R	704	ENSP00000358210:Q704R;ENSP00000262901:Q704R	ENSP00000262901:Q704R	Q	-	2	0	SIM1	100945148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.490000	0.45294	2.367000	0.80283	0.528000	0.53228	CAG		0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		11	91	0	0	0	0	11	91				
SIM1	6492	broad.mit.edu	37	6	100901656	100901656	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100901656C>T	ENST00000369208.3	-	3	1022	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SIM1_ENST00000262901.4_Silent_p.L80L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	80	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGGGAGCCCAGTTCTCGGC	0.587																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(238-240)CTG>CTA		single-minded homolog 1							92.0	82.0	86.0					6																	100901656		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901656C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.240G>A	6.37:g.100901656C>T						SIM1_uc010kcu.2_Silent_p.L80L	p.L80L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	447	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	80			PAS 1.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.240G>A	CCDS5045.1																																																																																				0.587	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		15	92	0	0	0	0	15	92				
TMEM200A	114801	broad.mit.edu	37	6	130762312	130762312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:130762312G>A	ENST00000296978.3	+	3	1616	c.745G>A	c.(745-747)Gac>Aac	p.D249N	TMEM200A_ENST00000392429.1_Missense_Mutation_p.D249N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D249N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	249						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGCTCTCTGACAGCTCTGT	0.463																																						uc003qca.2		NA																	0				ovary(1)	1						c.(745-747)GAC>AAC		transmembrane protein 200A							78.0	75.0	76.0					6																	130762312		2203	4299	6502	SO:0001583	missense	114801					integral to membrane		g.chr6:130762312G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.745G>A	6.37:g.130762312G>A	ENSP00000296978:p.Asp249Asn					TMEM200A_uc010kfh.2_Missense_Mutation_p.D249N|TMEM200A_uc010kfi.2_Missense_Mutation_p.D249N|TMEM200A_uc003qcb.2_Missense_Mutation_p.D249N	p.D249N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1616	+			249			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.745G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784953	0.70222	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.06	0.68205	.	0.216402	0.48767	D	0.000169	T	0.44582	0.1300	L	0.50333	1.59	0.46981	D	0.999279	B	0.06786	0.001	B	0.06405	0.002	T	0.50825	-0.8782	9	0.72032	D	0.01	.	15.221	0.73310	0.0674:0.0:0.9326:0.0	.	249	Q86VY9	T200A_HUMAN	N	249	.	ENSP00000296978:D249N	D	+	1	0	TMEM200A	130804005	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.746000	0.85057	1.508000	0.48769	0.655000	0.94253	GAC		0.463	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		10	82	0	0	0	0	10	82				
AHI1	54806	broad.mit.edu	37	6	135778701	135778701	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:135778701A>G	ENST00000367800.4	-	7	1298	c.1082T>C	c.(1081-1083)aTt>aCt	p.I361T	AHI1_ENST00000327035.6_Missense_Mutation_p.I361T|AHI1_ENST00000457866.2_Missense_Mutation_p.I361T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	361	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGGTGAGAAATCATAAAATC	0.358																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1081-1083)ATT>ACT		Abelson helper integration site 1 isoform a							111.0	103.0	106.0					6																	135778701		1865	4102	5967	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135778701A>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1082T>C	6.37:g.135778701A>G	ENSP00000356774:p.Ile361Thr					AHI1_uc003qgh.2_Missense_Mutation_p.I361T|AHI1_uc003qgj.2_Missense_Mutation_p.I361T|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I361T	p.I361T	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	9	1466	-	Breast(56;0.239)|Colorectal(23;0.24)		361					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1082T>C	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410042	0.83340	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.61274	0.18;0.18;0.18;0.12	5.5	5.5	0.81552	.	0.196730	0.46145	D	0.000316	T	0.51058	0.1652	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.871;0.879	T	0.61792	-0.6990	10	0.87932	D	0	-21.0164	15.6166	0.76773	1.0:0.0:0.0:0.0	.	361;361	Q8N157-2;Q8N157	.;AHI1_HUMAN	T	361	ENSP00000356774:I361T;ENSP00000388650:I361T;ENSP00000265602:I361T;ENSP00000322478:I361T	ENSP00000265602:I361T	I	-	2	0	AHI1	135820394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.541000	0.90644	2.090000	0.63153	0.377000	0.23210	ATT		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		15	64	0	0	0	0	15	64				
TMEM106B	54664	broad.mit.edu	37	7	12258148	12258148	+	Splice_Site	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:12258148G>A	ENST00000396667.3	+	4	603		c.e4+1		TMEM106B_ENST00000396668.3_Splice_Site	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B						cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAAGAAGAACGTAAGTGATTC	0.279																																						uc011jxk.1		NA																	0					0						c.e4+1		transmembrane protein 106B							107.0	107.0	107.0					7																	12258148		2203	4300	6503	SO:0001630	splice_region_variant	54664					integral to membrane		g.chr7:12258148G>A	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.281+1G>A	7.37:g.12258148G>A						TMEM106B_uc003ssh.2_Splice_Site_p.T94_splice	p.T94_splice	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	4	681	+								A4D108|Q53FL9|Q8N4L0	Splice_Site	SNP	ENST00000396667.3	37	c.281_splice	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295924	0.81025	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5011	0.90880	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM106B	12224673	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.513000	0.84729	0.650000	0.86243	.		0.279	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374	Intron	10	30	0	0	0	0	10	30				
ANKMY2	57037	broad.mit.edu	37	7	16640498	16640498	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:16640498T>C	ENST00000306999.2	-	10	1457	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	405						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATTGGAATCCTTTTGAGAGAT	0.428																																						uc003sti.2		NA																	0				central_nervous_system(1)	1						c.(1213-1215)AAG>AGG		ankyrin repeat and MYND domain containing 2							92.0	88.0	89.0					7																	16640498		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16640498T>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1214A>G	7.37:g.16640498T>C	ENSP00000303570:p.Lys405Arg					ANKMY2_uc010ktz.2_RNA	p.K405R	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1414	-	Lung NSC(10;0.103)|all_lung(11;0.204)		405					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.1214A>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669018	0.29604	.	.	ENSG00000106524	ENST00000306999	T	0.70869	-0.52	5.4	4.21	0.49690	.	0.857630	0.10872	N	0.624856	T	0.50463	0.1617	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38457	-0.9660	10	0.35671	T	0.21	-9.3588	9.5256	0.39162	0.0:0.0:0.1775:0.8225	.	405	Q8IV38	ANKY2_HUMAN	R	405	ENSP00000303570:K405R	ENSP00000303570:K405R	K	-	2	0	ANKMY2	16607023	0.034000	0.19679	0.001000	0.08648	0.002000	0.02628	1.372000	0.34261	0.943000	0.37553	0.533000	0.62120	AAG		0.428	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		15	52	0	0	0	0	15	52				
BMPER	168667	broad.mit.edu	37	7	34118721	34118721	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:34118721G>A	ENST00000297161.2	+	13	1705	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	BMPER_ENST00000426693.1_Missense_Mutation_p.R444H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	444	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGGCTCGCGCATCGCGCTC	0.662																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1330-1332)CGC>CAC		BMP-binding endothelial regulator precursor							52.0	54.0	53.0					7																	34118721		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118721G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1331G>A	7.37:g.34118721G>A	ENSP00000297161:p.Arg444His						p.R444H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1445	+			444			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1331G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617062	0.96649	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.60299	0.2;0.2	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73563	-0.3943	10	0.45353	T	0.12	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	444	Q8N8U9	BMPER_HUMAN	H	444	ENSP00000297161:R444H;ENSP00000393950:R444H	ENSP00000297161:R444H	R	+	2	0	BMPER	34085246	1.000000	0.71417	0.933000	0.37362	0.983000	0.72400	9.369000	0.97156	2.781000	0.95711	0.655000	0.94253	CGC		0.662	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		4	102	0	0	0	0	4	102				
ELMO1	9844	broad.mit.edu	37	7	37264509	37264509	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:37264509C>T	ENST00000310758.4	-	9	1323	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	ELMO1_ENST00000448602.1_Missense_Mutation_p.G226S|ELMO1_ENST00000442504.1_Missense_Mutation_p.G226S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	226					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATGAGCTGGCCGATGGTGATC	0.532																																						uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(676-678)GGC>AGC		engulfment and cell motility 1 isoform 1							128.0	111.0	117.0					7																	37264509		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264509C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.676G>A	7.37:g.37264509C>T	ENSP00000312185:p.Gly226Ser					ELMO1_uc011kbc.1_Missense_Mutation_p.G130S|ELMO1_uc010kxg.1_Missense_Mutation_p.G226S	p.G226S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			9	983	-			226					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.676G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306909	0.81247	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.49432	0.78;0.78;0.78	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.65975	2.015	0.80722	D	1	P	0.47106	0.89	B	0.43386	0.418	T	0.49725	-0.8909	10	0.25751	T	0.34	.	19.5556	0.95345	0.0:1.0:0.0:0.0	.	226	Q92556	ELMO1_HUMAN	S	226;130;226;226	ENSP00000312185:G226S;ENSP00000406952:G226S;ENSP00000394458:G226S	ENSP00000312185:G226S	G	-	1	0	ELMO1	37231034	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	7.814000	0.86154	2.693000	0.91896	0.655000	0.94253	GGC		0.532	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		24	73	0	0	0	0	24	73				
HECW1	23072	broad.mit.edu	37	7	43581558	43581558	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:43581558A>G	ENST00000395891.2	+	26	4814	c.4209A>G	c.(4207-4209)ttA>ttG	p.L1403L	HECW1_ENST00000453890.1_Silent_p.L1369L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1403	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGACATCTTAGACCTCACTT	0.408																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4207-4209)TTA>TTG		NEDD4-like ubiquitin-protein ligase 1							185.0	172.0	176.0					7																	43581558		1895	4132	6027	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43581558A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4209A>G	7.37:g.43581558A>G						HECW1_uc011kbi.1_Silent_p.L1369L	p.L1403L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			26	4814	+			1403			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4209A>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	9.196	1.027172	0.19512	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.186	0.06601	0.2148:0.2423:0.4:0.1429	.	.	.	.	W	127	.	.	X	+	2	0	HECW1	43548083	0.902000	0.30710	0.197000	0.23402	0.792000	0.44763	-0.004000	0.12878	-2.968000	0.00287	-0.376000	0.06991	TAG		0.408	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		13	65	0	0	0	0	13	65				
DBNL	28988	broad.mit.edu	37	7	44089842	44089842	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:44089842A>C	ENST00000448521.1	+	2	200	c.102A>C	c.(100-102)gaA>gaC	p.E34D	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.E34D|DBNL_ENST00000490734.2_Missense_Mutation_p.K2T|DBNL_ENST00000494774.1_Missense_Mutation_p.E34D|DBNL_ENST00000456905.1_Missense_Mutation_p.E34D|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000452943.1_Missense_Mutation_p.E34D	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	34	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTACCTATGAAGGCAACAGCA	0.542																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3		NA																	0				skin(1)	1						c.(100-102)GAA>GAC		drebrin-like isoform b							168.0	145.0	153.0					7																	44089842		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44089842A>C	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.102A>C	7.37:g.44089842A>C	ENSP00000411701:p.Glu34Asp					DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Missense_Mutation_p.E34D|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Missense_Mutation_p.E34D|DBNL_uc011kbm.1_Missense_Mutation_p.E34D|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_5'UTR|DBNL_uc011kbp.1_Missense_Mutation_p.E34D|DBNL_uc011kbq.1_5'UTR|DBNL_uc011kbr.1_5'UTR|DBNL_uc011kbs.1_5'Flank	p.E34D	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			2	200	+			34			ADF-H.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.102A>C	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.57|19.57	3.852741|3.852741	0.71719|0.71719	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000452943;ENST00000468694;ENST00000494774|ENST00000490734;ENST00000539475	T;T;T;T;T|T	0.32753|0.18502	1.44;1.44;1.44;1.44;1.44|2.21	5.41|5.41	1.71|1.71	0.24356|0.24356	Actin-binding, cofilin/tropomyosin type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.21841|0.21841	0.0526|0.0526	M|M	0.71871|0.71871	2.18|2.18	0.24817|0.24817	N|N	0.992605|0.992605	D;D;D;B;D|.	0.89917|.	0.996;1.0;0.992;0.274;0.986|.	D;D;D;B;D|.	0.91635|.	0.995;0.999;0.991;0.373;0.991|.	T|T	0.26608|0.26608	-1.0098|-1.0098	10|7	0.56958|0.13108	D|T	0.05|0.6	-24.2023|-24.2023	8.7884|8.7884	0.34835|0.34835	0.7791:0.0:0.2209:0.0|0.7791:0.0:0.2209:0.0	.|.	34;34;34;34;34|.	B4DDP6;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;DBNL_HUMAN;.|.	D|T	34|2	ENSP00000411701:E34D;ENSP00000416421:E34D;ENSP00000405343:E34D;ENSP00000417653:E34D;ENSP00000419992:E34D|ENSP00000417749:K2T	ENSP00000390397:E34D|ENSP00000417749:K2T	E|K	+|+	3|2	2|0	DBNL|DBNL	44056367|44056367	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	2.749000|2.749000	0.47492|0.47492	0.060000|0.060000	0.16281|0.16281	0.529000|0.529000	0.55759|0.55759	GAA|AAG		0.542	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		3	121	0	0	0	0	3	121				
STEAP4	79689	broad.mit.edu	37	7	87913347	87913347	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:87913347C>T	ENST00000380079.4	-	2	339	c.238G>A	c.(238-240)Gca>Aca	p.A80T	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A80T|STEAP4_ENST00000414498.1_Missense_Mutation_p.A80T	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	80					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGTGGATTGCTATGATTATG	0.413																																						uc003ujs.2		NA																	0					0						c.(238-240)GCA>ACA		tumor necrosis factor, alpha-induced protein 9							141.0	133.0	135.0					7																	87913347		1847	4090	5937	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913347C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.238G>A	7.37:g.87913347C>T	ENSP00000369419:p.Ala80Thr					STEAP4_uc010lek.2_Missense_Mutation_p.A80T|STEAP4_uc003ujt.2_Missense_Mutation_p.A80T	p.A80T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	343	-	Esophageal squamous(14;0.00802)		80					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.238G>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780829	0.31502	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.52754	0.65;0.65;0.65	5.91	-2.49	0.06403	NAD(P)-binding domain (1);	0.367249	0.33075	N	0.005313	T	0.41419	0.1158	L	0.60845	1.875	0.24548	N	0.994034	B;B;B	0.23442	0.01;0.085;0.035	B;B;B	0.28139	0.017;0.086;0.086	T	0.36915	-0.9728	10	0.51188	T	0.08	-0.1956	12.0138	0.53303	0.0:0.5363:0.0:0.4637	.	80;80;80	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	T	80	ENSP00000369419:A80T;ENSP00000305545:A80T;ENSP00000394399:A80T	ENSP00000305545:A80T	A	-	1	0	STEAP4	87751283	0.085000	0.21516	0.002000	0.10522	0.829000	0.46940	0.295000	0.19065	-0.915000	0.03823	-0.145000	0.13849	GCA		0.413	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		11	94	0	0	0	0	11	94				
ZNF804B	219578	broad.mit.edu	37	7	88965755	88965755	+	Missense_Mutation	SNP	C	C	A	rs76889726	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:88965755C>A	ENST00000333190.4	+	4	4068	c.3459C>A	c.(3457-3459)gaC>gaA	p.D1153E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1153							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTCCTGACGAAATAGATA	0.418										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3457-3459)GAC>GAA		zinc finger protein 804B							54.0	56.0	55.0					7																	88965755		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965755C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3459C>A	7.37:g.88965755C>A	ENSP00000329638:p.Asp1153Glu	HNSCC(36;0.09)					p.D1153E	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3997	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1153					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3459C>A	CCDS5613.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.509	-0.100133	0.07010	.	.	ENSG00000182348	ENST00000333190	T	0.02737	4.18	4.98	-4.08	0.03963	.	0.382599	0.25217	N	0.032279	T	0.00784	0.0026	N	0.03983	-0.305	0.31000	N	0.720409	B	0.25809	0.135	B	0.22880	0.042	T	0.42378	-0.9455	10	0.02654	T	1	-8.9856	0.8487	0.01167	0.3522:0.1315:0.152:0.3643	.	1153	A4D1E1	Z804B_HUMAN	E	1153	ENSP00000329638:D1153E	ENSP00000329638:D1153E	D	+	3	2	ZNF804B	88803691	0.935000	0.31712	0.990000	0.47175	0.919000	0.55068	-0.045000	0.12003	-0.431000	0.07307	-0.302000	0.09304	GAC		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		6	64	1	0	5.94e-07	7.2e-07	6	64				
ZAN	7455	broad.mit.edu	37	7	100358081	100358081	+	RNA	SNP	G	G	A	rs376487262		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:100358081G>A	ENST00000348028.3	+	0	3929				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_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)			GCAAGCGGGCGGTTTGTGGAG	0.587																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(3763-3765)CGG>CAG		zonadhesin isoform 3		G	GLN/ARG,GLN/ARG	0,4216		0,0,2108	108.0	119.0	115.0		3764,3764	4.7	1.0	7		115	2,8424		0,2,4211	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	43,43	0,2,6319	AA,AG,GG		0.0237,0.0,0.0158	probably-damaging,probably-damaging	1255/2813,1255/2722	100358081	2,12640	2108	4213	6321			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100358081G>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.100358081G>A						ZAN_uc003uwk.2_Missense_Mutation_p.R1255Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	p.R1255Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		19	3929	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1255			VWFD 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3764G>A		.	.	.	.	.	.	.	.	.	.	G	17.63	3.438278	0.62955	0.0	2.37E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.59083	0.29;0.29;0.29	4.72	4.72	0.59763	von Willebrand factor, type D domain (3);	0.000000	0.38326	N	0.001728	T	0.57184	0.2036	L	0.39326	1.205	0.80722	D	1	D;D	0.56968	0.973;0.978	P;P	0.51297	0.535;0.665	T	0.54227	-0.8325	10	0.33940	T	0.23	.	13.8929	0.63750	0.0:0.0:1.0:0.0	.	1255;1255	F5H0T8;Q9Y493	.;ZAN_HUMAN	Q	1255	ENSP00000445943:R1255Q;ENSP00000445091:R1255Q;ENSP00000444427:R1255Q	ENSP00000423579:R1255Q	R	+	2	0	ZAN	100196017	0.991000	0.36638	0.957000	0.39632	0.336000	0.28762	2.412000	0.44609	2.564000	0.86499	0.555000	0.69702	CGG		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	95	0	0	0	0	14	95				
CSMD1	64478	broad.mit.edu	37	8	4494972	4494972	+	Missense_Mutation	SNP	C	C	G	rs548383742		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:4494972C>G	ENST00000520002.1	-	2	749	c.194G>C	c.(193-195)gGc>gCc	p.G65A	CSMD1_ENST00000602557.1_Missense_Mutation_p.G65A|CSMD1_ENST00000542608.1_Missense_Mutation_p.G65A|CSMD1_ENST00000537824.1_Missense_Mutation_p.G65A|CSMD1_ENST00000602723.1_Missense_Mutation_p.G65A|CSMD1_ENST00000400186.3_Missense_Mutation_p.G65A|CSMD1_ENST00000539096.1_Missense_Mutation_p.G65A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	65	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTGCGCTCGCCCGTGATGAT	0.473																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(193-195)GGC>GCC		CUB and Sushi multiple domains 1 precursor							123.0	123.0	123.0					8																	4494972		1945	4169	6114	SO:0001583	missense	64478					integral to membrane		g.chr8:4494972C>G			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.194G>C	8.37:g.4494972C>G	ENSP00000430733:p.Gly65Ala						p.G65A	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)	2	584	-		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)	65			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.194G>C		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653593	0.29425	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.12	5.12	0.69794	.	.	.	.	.	T	0.33030	0.0849	N	0.03903	-0.33	0.44067	D	0.996811	D	0.76494	0.999	D	0.91635	0.999	T	0.49862	-0.8894	9	0.48119	T	0.1	.	16.0542	0.80782	0.0:1.0:0.0:0.0	.	65	E5RIG2	.	A	65	ENSP00000383047:G65A;ENSP00000430733:G65A;ENSP00000441462:G65A;ENSP00000446243:G65A;ENSP00000441675:G65A	ENSP00000383047:G65A	G	-	2	0	CSMD1	4482380	0.996000	0.38824	0.091000	0.20842	0.898000	0.52572	3.219000	0.51200	2.401000	0.81631	0.585000	0.79938	GGC		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		18	93	0	0	0	0	18	93				
TRPA1	8989	broad.mit.edu	37	8	72938196	72938196	+	Splice_Site	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:72938196A>G	ENST00000262209.4	-	25	3257	c.3050T>C	c.(3049-3051)tTc>tCc	p.F1017S	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1017					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTACTTACGAATAACATCCC	0.413																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(3049-3051)TTC>TCC		ankyrin-like protein 1	Menthol(DB00825)						119.0	107.0	111.0					8																	72938196		2203	4300	6503	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72938196A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3051+1T>C	8.37:g.72938196A>G						uc011lff.1_Intron|uc003xyy.2_Intron	p.F1017S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		25	3225	-			1017			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3050T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	3.520	-0.098011	0.07010	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.39229	1.09;1.17	3.95	2.79	0.32731	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32107	-0.9919	9	0.02654	T	1	0.0338	5.0085	0.14300	0.7302:0.0:0.2698:0.0	.	1017	O75762	TRPA1_HUMAN	S	869;1017	ENSP00000428151:F869S;ENSP00000262209:F1017S	ENSP00000262209:F1017S	F	-	2	0	TRPA1	73100750	0.001000	0.12720	0.002000	0.10522	0.117000	0.20001	0.710000	0.25748	0.690000	0.31570	0.454000	0.30748	TTC		0.413	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Missense_Mutation	7	57	0	0	0	0	7	57				
CNGB3	54714	broad.mit.edu	37	8	87645051	87645051	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:87645051A>C	ENST00000320005.5	-	11	1296	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	417					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTTCAAATAAAGTTTGTGGT	0.343																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1249-1251)TTA>GTA		cyclic nucleotide gated channel beta 3							59.0	60.0	60.0					8																	87645051		2203	4299	6502	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645051A>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1249T>G	8.37:g.87645051A>C	ENSP00000316605:p.Leu417Val					CNGB3_uc010maj.2_Missense_Mutation_p.L279V	p.L417V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			11	1295	-			417			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1249T>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	7.918	0.738051	0.15574	.	.	ENSG00000170289	ENST00000320005	D	0.97404	-4.37	5.12	-4.43	0.03568	.	2.027970	0.02492	N	0.089548	D	0.89083	0.6614	N	0.10685	0.025	0.09310	N	1	B;B	0.19445	0.036;0.022	B;B	0.25405	0.036;0.06	D	0.87333	0.2326	10	0.02654	T	1	.	4.7137	0.12884	0.2731:0.0887:0.0684:0.5699	.	417;417	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	417	ENSP00000316605:L417V	ENSP00000316605:L417V	L	-	1	2	CNGB3	87714167	0.000000	0.05858	0.791000	0.31998	0.995000	0.86356	-0.736000	0.04882	-0.293000	0.08986	0.482000	0.46254	TTA		0.343	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		17	33	0	0	0	0	17	33				
TRPM6	140803	broad.mit.edu	37	9	77370356	77370356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:77370356G>A	ENST00000360774.1	-	28	5056	c.4819C>T	c.(4819-4821)Cag>Tag	p.Q1607*	TRPM6_ENST00000376872.3_Nonsense_Mutation_p.Q558*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1602*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1602*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1607					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						GGATTCAACTGGTCACTCTGA	0.428																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4819-4821)CAG>TAG		transient receptor potential cation channel,							166.0	147.0	153.0					9																	77370356		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77370356G>A	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.4819C>T	9.37:g.77370356G>A	ENSP00000354006:p.Gln1607*					TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1602*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Nonsense_Mutation_p.Q558*|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q563*	p.Q1607*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			28	5057	-			1607			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.4819C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	41	8.982998	0.99025	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.13	4.21	0.49690	.	0.466208	0.24788	N	0.035583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.8854	0.70564	0.0:0.1443:0.8557:0.0	.	.	.	.	X	1607;1607;558;1602;1602;1607	.	ENSP00000354006:Q1607X	Q	-	1	0	TRPM6	76560176	0.490000	0.26012	0.055000	0.19348	0.002000	0.02628	1.918000	0.40006	1.263000	0.44181	0.655000	0.94253	CAG		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		3	81	0	0	0	0	3	81				
C9orf3	84909	broad.mit.edu	37	9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P|C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463																																						uc004ava.2		NA																	0				ovary(1)	1						c.(841-843)CTT>CCT		aminopeptidase O							125.0	120.0	122.0					9																	97535328		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97535328T>C	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.842T>C	9.37:g.97535328T>C	ENSP00000364464:p.Leu281Pro					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L281P|C9orf3_uc004auy.2_Missense_Mutation_p.L281P|C9orf3_uc004auz.1_Missense_Mutation_p.L281P	p.L281P	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	2	977	+			281					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.842T>C	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889215	0.72524	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.09	5.09	0.68999	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.00214	-1.1912	10	0.87932	D	0	-12.3101	15.0328	0.71720	0.0:0.0:0.0:1.0	.	281;281;281;281	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	P	281;281;281;104;63	ENSP00000277198:L281P;ENSP00000297979:L281P;ENSP00000364464:L281P;ENSP00000402171:L104P;ENSP00000401854:L63P	ENSP00000277198:L281P	L	+	2	0	C9orf3	96575149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.406000	0.80017	2.136000	0.66102	0.477000	0.44152	CTT		0.463	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		3	165	0	0	0	0	3	165				
ZNF510	22869	broad.mit.edu	37	9	99522337	99522337	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:99522337T>C	ENST00000375231.1	-	6	1425	c.775A>G	c.(775-777)Att>Gtt	p.I259V	ZNF510_ENST00000472201.1_5'Flank|ZNF510_ENST00000223428.4_Missense_Mutation_p.I259V			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	259					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(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTTTTCCAATTTTATTACAT	0.303																																						uc004awn.1		NA																	0					0						c.(775-777)ATT>GTT		zinc finger protein 510							53.0	56.0	55.0					9																	99522337		2202	4300	6502	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99522337T>C	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.775A>G	9.37:g.99522337T>C	ENSP00000364379:p.Ile259Val					ZNF510_uc004awo.1_Missense_Mutation_p.I259V	p.I259V	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	964	-		Acute lymphoblastic leukemia(62;0.0527)	259			C2H2-type 1; degenerate.		Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.775A>G	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	t	11.20	1.569175	0.28003	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.14893	2.47;2.47	3.53	-3.9	0.04181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.35500	-0.9786	9	0.87932	D	0	.	7.3447	0.26656	0.7161:0.0983:0.0:0.1856	.	259	Q9Y2H8	ZN510_HUMAN	V	259	ENSP00000364379:I259V;ENSP00000223428:I259V	ENSP00000223428:I259V	I	-	1	0	ZNF510	98562158	0.079000	0.21365	0.000000	0.03702	0.013000	0.08279	3.439000	0.52878	-0.788000	0.04504	-0.256000	0.11100	ATT		0.303	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		6	50	0	0	0	0	6	50				
TEX10	54881	broad.mit.edu	37	9	103070951	103070951	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:103070951C>T	ENST00000374902.4	-	13	2472	c.2296G>A	c.(2296-2298)Gta>Ata	p.V766I	TEX10_ENST00000535814.1_Missense_Mutation_p.V769I|TEX10_ENST00000477648.1_5'Flank	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	766						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCAGGAATTACAGTCAACCCA	0.428																																						uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(2296-2298)GTA>ATA		testis expressed 10 isoform 1							100.0	98.0	99.0					9																	103070951		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103070951C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2296G>A	9.37:g.103070951C>T	ENSP00000364037:p.Val766Ile					TEX10_uc011lvf.1_Missense_Mutation_p.V605I|TEX10_uc011lvg.1_Missense_Mutation_p.V769I	p.V766I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	13	2511	-		Acute lymphoblastic leukemia(62;0.0527)	766					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.2296G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552793	0.86127	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.77557	0.987;0.99;0.987	T	0.70048	-0.4979	9	0.62326	D	0.03	-6.8928	17.1454	0.86765	0.0:1.0:0.0:0.0	.	769;634;766	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	I	769;766;634	.	ENSP00000364037:V766I	V	-	1	0	TEX10	102110772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.679000	0.68160	2.481000	0.83766	0.591000	0.81541	GTA		0.428	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		15	55	0	0	0	0	15	55				
ZNF483	158399	broad.mit.edu	37	9	114305147	114305147	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:114305147C>T	ENST00000309235.5	+	6	2090	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAAGCCTTCCCAACCCATT	0.388																																						uc004bff.2		NA																	0				skin(1)	1						c.(1930-1932)TTC>TTT		zinc finger protein 483 isoform a							67.0	67.0	67.0					9																	114305147		2203	4300	6503	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114305147C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1932C>T	9.37:g.114305147C>T						ZNF483_uc004bfg.2_Intron	p.F644F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	2156	+			644			C2H2-type 8.		Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.1932C>T	CCDS35106.1																																																																																				0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		9	48	0	0	0	0	9	48				
CRB2	286204	broad.mit.edu	37	9	126137517	126137517	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:126137517C>T	ENST00000373631.3	+	12	3529	c.3528C>T	c.(3526-3528)ccC>ccT	p.P1176P	CRB2_ENST00000373629.2_Silent_p.P844P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1176	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACTCTCCCCTGTGAAGCCA	0.627																																						uc004bnx.1		NA																	0				ovary(1)	1						c.(3526-3528)CCC>CCT		crumbs homolog 2 precursor							60.0	64.0	62.0					9																	126137517		2202	4300	6502	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126137517C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3528C>T	9.37:g.126137517C>T							p.P1176P	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			12	3620	+			1176			Extracellular (Potential).|EGF-like 15.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.3528C>T	CCDS6852.2																																																																																				0.627	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	91	0	0	0	0	8	91				
NOTCH1	4851	broad.mit.edu	37	9	139400000	139400000	+	Nonsense_Mutation	SNP	C	C	A	rs147841035		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:139400000C>A	ENST00000277541.6	-	25	4423	c.4348G>T	c.(4348-4350)Gag>Tag	p.E1450*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1450					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)		TCGGGCAGCTCGCACGCCTCC	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.(4348-4350)GAG>TAG		notch1 preproprotein							21.0	27.0	25.0					9																	139400000		2093	4184	6277	SO:0001587	stop_gained	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.chr9:139400000C>A	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.4348G>T	9.37:g.139400000C>A	ENSP00000277541:p.Glu1450*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.E680*	p.E1450*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4348	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1450			Extracellular (Potential).|LNR 1.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.4348G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	41	8.715753	0.98927	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.25	3.34	0.38264	.	0.174068	0.49305	U	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	10.9603	0.47381	0.0:0.907:0.0:0.093	.	.	.	.	X	1450	.	ENSP00000277541:E1450X	E	-	1	0	NOTCH1	138519821	1.000000	0.71417	0.886000	0.34754	0.030000	0.12068	3.644000	0.54381	0.767000	0.33267	-0.234000	0.12200	GAG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	47	1	0	0.000442599	0.000520476	7	47				
ALAS2	212	broad.mit.edu	37	X	55042039	55042039	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:55042039A>C	ENST00000330807.5	-	8	1277	c.1140T>G	c.(1138-1140)caT>caG	p.H380Q	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.H367Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H343Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	380					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGTCAATCTTATGCATAATTC	0.517																																						uc004dua.3		NA																	0				ovary(1)	1						c.(1138-1140)CAT>CAG		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						102.0	91.0	94.0					X																	55042039		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042039A>C		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1140T>G	X.37:g.55042039A>C	ENSP00000332369:p.His380Gln					ALAS2_uc004dub.3_Missense_Mutation_p.H367Q|ALAS2_uc004dud.3_Missense_Mutation_p.H343Q	p.H380Q	NM_000032	NP_000023	P22557	HEM0_HUMAN			8	1278	-			380					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1140T>G	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446574	0.43429	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.94897	-3.55;-3.55;-3.55	5.75	0.696	0.18075	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.185866	0.64402	D	0.000020	D	0.92044	0.7479	M	0.64404	1.975	0.54753	D	0.999987	B;B;B	0.30236	0.274;0.274;0.153	B;B;B	0.37943	0.261;0.19;0.261	D	0.85779	0.1360	10	0.49607	T	0.09	-13.2205	6.1624	0.20372	0.3786:0.0:0.5012:0.1202	.	343;367;380	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	380;367;343	ENSP00000332369:H380Q;ENSP00000379501:H367Q;ENSP00000337131:H343Q	ENSP00000332369:H380Q	H	-	3	2	ALAS2	55058764	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.282000	0.33226	0.031000	0.15407	-0.239000	0.12128	CAT		0.517	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		10	39	0	0	0	0	10	39				
TAF1	6872	broad.mit.edu	37	X	70604857	70604857	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:70604857A>G	ENST00000373790.4	+	14	2232	c.2181A>G	c.(2179-2181)acA>acG	p.T727T	TAF1_ENST00000276072.3_Silent_p.T748T|TAF1_ENST00000449580.1_Silent_p.T727T|TAF1_ENST00000423759.1_Silent_p.T748T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	727	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTGCCATACATCTCCTTTCC	0.393																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2179-2181)ACA>ACG		TBP-associated factor 1 isoform 2							149.0	125.0	133.0					X																	70604857		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70604857A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2181A>G	X.37:g.70604857A>G						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.T748T	p.T727T	NM_138923	NP_620278	P21675	TAF1_HUMAN			14	2232	+	Renal(35;0.156)	all_lung(315;0.000321)	727					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.2181A>G	CCDS35325.1																																																																																				0.393	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		11	38	0	0	0	0	11	38				
RGAG1	57529	broad.mit.edu	37	X	109696314	109696314	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:109696314G>A	ENST00000465301.2	+	3	2715	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M823I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	823										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCCACAAATGACAGCCACAG	0.532																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2467-2469)ATG>ATA		retrotransposon gag domain containing 1							115.0	110.0	112.0					X																	109696314		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696314G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2469G>A	X.37:g.109696314G>A	ENSP00000419786:p.Met823Ile					RGAG1_uc011msr.1_Missense_Mutation_p.M823I	p.M823I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	2715	+			823					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2469G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669215	0.29604	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.44881	0.91;0.91	4.26	3.4	0.38934	.	0.000000	0.43919	D	0.000518	T	0.44393	0.1291	L	0.61218	1.895	0.37392	D	0.912492	P	0.44816	0.844	P	0.46825	0.528	T	0.49916	-0.8888	9	.	.	.	-4.7803	9.4062	0.38462	0.1089:0.0:0.8911:0.0	.	823	Q8NET4	RGAG1_HUMAN	I	823	ENSP00000419786:M823I;ENSP00000441452:M823I	.	M	+	3	0	RGAG1	109582970	0.500000	0.26091	0.802000	0.32245	0.955000	0.61496	0.199000	0.17237	1.143000	0.42306	0.513000	0.50165	ATG		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		31	91	0	0	0	0	31	91				
ATP11C	286410	broad.mit.edu	37	X	138886713	138886713	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:138886713C>A	ENST00000327569.3	-	6	579	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	ATP11C_ENST00000370543.1_Missense_Mutation_p.D161Y|ATP11C_ENST00000359686.2_Missense_Mutation_p.D161Y|ATP11C_ENST00000370557.1_Missense_Mutation_p.D158Y|ATP11C_ENST00000361648.2_Missense_Mutation_p.D161Y	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	161					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGAATAAGATCACAGGGAAAG	0.368																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(481-483)GAT>TAT		ATPase, class VI, type 11C isoform a							200.0	175.0	184.0					X																	138886713		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138886713C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.481G>T	X.37:g.138886713C>A	ENSP00000332756:p.Asp161Tyr					ATP11C_uc004fba.2_Missense_Mutation_p.D161Y	p.D161Y	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			6	580	-	Acute lymphoblastic leukemia(192;0.000127)		161			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.481G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358401	0.82243	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.99070	-5.39;-5.39;-5.39;-5.39;-5.39	4.7	4.7	0.59300	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.120412	0.64402	D	0.000014	D	0.99632	0.9865	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97277	0.9915	10	0.87932	D	0	.	15.7628	0.78101	0.0:1.0:0.0:0.0	.	161;161	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	Y	158;161;161;161;161	ENSP00000359588:D158Y;ENSP00000355165:D161Y;ENSP00000332756:D161Y;ENSP00000359574:D161Y;ENSP00000352715:D161Y	ENSP00000332756:D161Y	D	-	1	0	ATP11C	138714379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.172000	0.68678	0.422000	0.28245	GAT		0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		17	81	1	0	1.56e-12	1.95e-12	17	81				
SLITRK2	84631	broad.mit.edu	37	X	144904539	144904539	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:144904539C>T	ENST00000370490.1	+	1	4851	c.596C>T	c.(595-597)gCt>gTt	p.A199V	SLITRK2_ENST00000428560.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A199V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	199					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCTTTTGCTGGCGTCCTT	0.483																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(595-597)GCT>GTT		SLIT and NTRK-like family, member 2 precursor							141.0	125.0	130.0					X																	144904539		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904539C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.596C>T	X.37:g.144904539C>T	ENSP00000359521:p.Ala199Val					SLITRK2_uc010nsp.2_Missense_Mutation_p.A199V|SLITRK2_uc010nso.2_Missense_Mutation_p.A199V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A199V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A199V|SLITRK2_uc011mws.1_Missense_Mutation_p.A199V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A199V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A199V	p.A199V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1586	+	Acute lymphoblastic leukemia(192;6.56e-05)		199			Extracellular (Potential).|LRR 6.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.596C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	3.821	-0.037660	0.07497	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52526	0.69;0.66;0.66;0.66;0.66;0.66	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.37630	1.12	0.54753	D	0.999982	B	0.20052	0.041	B	0.22386	0.039	T	0.17379	-1.0371	10	0.23891	T	0.37	-7.168	14.7267	0.69349	0.0:1.0:0.0:0.0	.	199	Q9H156	SLIK2_HUMAN	V	199	ENSP00000334374:A199V;ENSP00000411681:A199V;ENSP00000359521:A199V;ENSP00000397015:A199V;ENSP00000407347:A199V;ENSP00000412010:A199V	ENSP00000334374:A199V	A	+	2	0	SLITRK2	144712231	0.999000	0.42202	0.617000	0.29091	0.948000	0.59901	4.022000	0.57203	2.058000	0.61347	0.600000	0.82982	GCT		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		22	79	0	0	0	0	22	79				
TAF10	6881	broad.mit.edu	37	11	6632171	6632173	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:6632171_6632173delCTT	ENST00000299424.4	-	5	1114_1116	c.637_639delAAG	c.(637-639)aagdel	p.K213del	TAF10_ENST00000531760.1_5'Flank|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	213					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTAGTGCGGCTTCTTCACATTG	0.512																																						uc001mej.1		NA																	0					0						c.(637-639)AAGdel		TBP-related factor 10																																				SO:0001651	inframe_deletion	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632171_6632173delCTT	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.637_639delAAG	11.37:g.6632174_6632176delCTT	ENSP00000299424:p.Lys213del						p.K213del	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	5	662_664	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	213					O00703|Q13175|Q6FH13	In_Frame_Del	DEL	ENST00000299424.4	37	c.637_639delAAG	CCDS7769.1																																																																																				0.512	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		17	126	NA	NA	NA	NA	17	126	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						uc003ota.3		NA																	1	Deletion - In frame(1)		central_nervous_system(1)	ovary(1)	1						c.(49-54)TTGCTG>TTG		trinucleotide repeat containing 5 precursor																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	p.17_18LL>L	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	499_501	+	Colorectal(47;0.196)		17_18					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		6	6	NA	NA	NA	NA	6	6	---	---	---	---
