#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1559174	1559174	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:1559174A>T	ENST00000357210.4	+	4	658	c.442A>T	c.(442-444)Atc>Ttc	p.I148F	MIB2_ENST00000504599.1_Missense_Mutation_p.I104F|MIB2_ENST00000355826.5_Missense_Mutation_p.I191F|MIB2_ENST00000378708.1_Missense_Mutation_p.I90F|MIB2_ENST00000378712.1_Missense_Mutation_p.I90F|MIB2_ENST00000360522.4_Missense_Mutation_p.I148F|MIB2_ENST00000378710.3_Missense_Mutation_p.I148F|MIB2_ENST00000520777.1_Missense_Mutation_p.I205F|MIB2_ENST00000518681.1_Missense_Mutation_p.I205F|MIB2_ENST00000505820.2_Missense_Mutation_p.I205F|MIB2_ENST00000512004.1_3'UTR	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	148					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I148F(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCAACATCATCTGTGACTG	0.677																																							uc001agg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)ATC>TTC		mindbomb homolog 2							15.0	18.0	17.0					1																	1559174		2091	4193	6284	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1559174A>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.442A>T	1.37:g.1559174A>T	ENSP00000349741:p.Ile148Phe					MIB2_uc001agh.2_Missense_Mutation_p.I134F|MIB2_uc001agi.2_Missense_Mutation_p.I148F|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.I148F|MIB2_uc001agl.1_Missense_Mutation_p.I104F|MIB2_uc001agm.2_Missense_Mutation_p.I90F|MIB2_uc010nyq.1_Missense_Mutation_p.I104F|MIB2_uc009vkh.2_5'UTR|MIB2_uc001agn.2_5'Flank	p.I148F	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	569	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	148			ZZ-type.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.442A>T		.	.	.	.	.	.	.	.	.	.	A	16.85	3.236519	0.58886	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000510793;ENST00000504599;ENST00000503789;ENST00000378708	D;D;D;D;D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	4.02	4.02	0.46733	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.94265	0.8158	L	0.54965	1.715	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.985;0.999;0.998;0.992	D	0.94555	0.7757	10	0.87932	D	0	-2.7211	12.4052	0.55434	1.0:0.0:0.0:0.0	.	90;205;205;134;148	B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;MIB2_HUMAN	F	205;148;148;148;191;205;205;90;90;104;90;90	ENSP00000428660:I205F;ENSP00000349741:I148F;ENSP00000353713:I148F;ENSP00000367982:I148F;ENSP00000348081:I191F;ENSP00000428264:I205F;ENSP00000426103:I205F;ENSP00000367984:I90F;ENSP00000426865:I90F;ENSP00000426128:I104F;ENSP00000426603:I90F;ENSP00000367980:I90F	ENSP00000348081:I191F	I	+	1	0	MIB2	1549037	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.240000	0.78192	1.572000	0.49736	0.247000	0.18012	ATC		0.677	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		3	13	0	0	0	0.004672	0	3	13				
ARHGEF10L	55160	broad.mit.edu	37	1	17966799	17966799	+	Splice_Site	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:17966799T>G	ENST00000361221.3	+	21	2431		c.e21+2		ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like							cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCGGACTCCGTGAGTATAGCC	0.602																																							uc001ban.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.e21+2		Rho guanine nucleotide exchange factor (GEF)							47.0	40.0	42.0					1																	17966799		2202	4300	6502	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17966799T>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2272+2T>G	1.37:g.17966799T>G						ARHGEF10L_uc009vpe.1_Splice_Site_p.R719_splice|ARHGEF10L_uc001bao.2_Splice_Site_p.R719_splice|ARHGEF10L_uc001bap.2_Splice_Site_p.R714_splice|ARHGEF10L_uc001baq.2_Splice_Site_p.R519_splice|ARHGEF10L_uc010ocs.1_Splice_Site_p.R531_splice|ARHGEF10L_uc001bar.2_Splice_Site_p.R461_splice|ARHGEF10L_uc009vpf.2_Splice_Site	p.R758_splice	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	21	2431	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.2272_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848280	0.71603	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3714	0.66843	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF10L	17839386	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.100000	0.76989	2.072000	0.62099	0.455000	0.32223	.		0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Intron	5	23	0	0	0	0.000602	0	5	23				
KLF17	128209	broad.mit.edu	37	1	44595592	44595592	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:44595592G>A	ENST00000372299.3	+	2	707	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	217					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A217T(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCCGCAAGATGCCCATGACCT	0.567																																							uc001clp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(649-651)GCC>ACC		zinc finger protein 393							67.0	62.0	64.0					1																	44595592		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595592G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.649G>A	1.37:g.44595592G>A	ENSP00000361373:p.Ala217Thr					KLF17_uc009vxf.1_Missense_Mutation_p.A180T	p.A217T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	707	+	Acute lymphoblastic leukemia(166;0.155)		217					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.649G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146399	0.21288	.	.	ENSG00000171872	ENST00000372299	T	0.09538	2.97	4.41	0.264	0.15607	.	0.752143	0.11977	N	0.511163	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42582	-0.9443	10	0.27082	T	0.32	.	2.2837	0.04121	0.3284:0.4045:0.166:0.1012	.	217	Q5JT82	KLF17_HUMAN	T	217	ENSP00000361373:A217T	ENSP00000361373:A217T	A	+	1	0	KLF17	44368179	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.119000	0.15626	0.065000	0.16485	-1.186000	0.01703	GCC		0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		35	64	0	0	0	0.003271	0	35	64				
ABCA4	24	broad.mit.edu	37	1	94543389	94543389	+	Missense_Mutation	SNP	C	C	T	rs1800548	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:94543389C>T	ENST00000370225.3	-	11	1497	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E471K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	471			E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548). {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E471*(1)|p.E471K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAATACCTTCTTCACCAAGC	0.463																																							uc001dqh.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	CM970001	ABCA4	M	rs1800548	c.(1411-1413)GAA>AAA		ATP-binding cassette, sub-family A member 4		C	LYS/GLU	0,4406		0,0,2203	162.0	157.0	159.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1411	4.9	1.0	1	dbSNP_89	159	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ABCA4	NM_000350.2	56	0,11,6492	TT,TC,CC		0.1279,0.0,0.0846	benign	471/2274	94543389	11,12995	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543389C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1411G>A	1.37:g.94543389C>T	ENSP00000359245:p.Glu471Lys					ABCA4_uc010otn.1_Missense_Mutation_p.E471K	p.E471K	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1515	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	471			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1411G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318820	0.23994	0.0	0.001279	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.85258	-1.96;-1.96	4.94	4.94	0.65067	.	0.252125	0.40554	N	0.001067	T	0.71929	0.3398	L	0.50919	1.6	0.49483	D	0.999798	B;B	0.28998	0.23;0.004	B;B	0.31614	0.133;0.007	T	0.72171	-0.4371	10	0.06099	T	0.92	.	18.7161	0.91677	0.0:1.0:0.0:0.0	rs1800548	471;471	F5H6E5;P78363	.;ABCA4_HUMAN	K	471	ENSP00000359245:E471K;ENSP00000437682:E471K	ENSP00000359245:E471K	E	-	1	0	ABCA4	94315977	0.855000	0.29742	1.000000	0.80357	0.991000	0.79684	1.629000	0.37071	2.726000	0.93360	0.655000	0.94253	GAA		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		8	240	0	0	0	0.00308	0	8	240				
RBM15	64783	broad.mit.edu	37	1	110882747	110882747	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:110882747C>T	ENST00000369784.3	+	1	1620	c.720C>T	c.(718-720)ctC>ctT	p.L240L	RBM15_ENST00000602849.1_Silent_p.L240L|RBM15_ENST00000487146.2_Silent_p.L240L|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	240	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L240L(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGGTGCTCTATGACCGGC	0.622			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(718-720)CTC>CTT		RNA binding motif protein 15							35.0	42.0	39.0					1																	110882747		2203	4298	6501	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882747C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.720C>T	1.37:g.110882747C>T			OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Silent_p.L240L|uc001dzj.2_5'Flank	p.L240L	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	803	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	240			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.720C>T	CCDS822.1																																																																																				0.622	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		16	78	0	0	0	0.004007	0	16	78				
NBPF10	100132406	broad.mit.edu	37	1	145368660	145368660	+	Missense_Mutation	SNP	G	G	T	rs587642846	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:145368660G>T	ENST00000369339.3	+	17	2245	c.1992G>T	c.(1990-1992)caG>caT	p.Q664H	NBPF10_ENST00000369338.1_Missense_Mutation_p.Q662H|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q3546H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	0	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Q3546H(1)|p.Q662H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGTGTTCCAGATGGGAGTCA	0.448																																							uc001end.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(10861-10863)CAG>CAT		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145368660G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1992G>T	1.37:g.145368660G>T	ENSP00000358345:p.Gln664His					NBPF9_uc010oye.1_Missense_Mutation_p.Q905H|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.Q474H|NBPF10_uc010oyk.1_Missense_Mutation_p.Q262H|NBPF10_uc010oyl.1_Missense_Mutation_p.Q262H	p.Q3621H	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	86	10898	+	all_hematologic(923;0.032)		3546					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10863G>T		.	.	.	.	.	.	.	.	.	.	.	6.502	0.460889	0.12342	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.04275	3.83;3.66	0.3	0.3	0.15776	.	.	.	.	.	T	0.03695	0.0105	M	0.65975	2.015	0.09310	N	1	.	.	.	.	.	.	T	0.34551	-0.9824	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	H	666;662;3546	ENSP00000358344:Q662H;ENSP00000345684:Q3546H	ENSP00000345684:Q3546H	Q	+	3	2	NBPF10	144080017	0.924000	0.31332	0.004000	0.12327	0.004000	0.04260	0.768000	0.26590	0.379000	0.24794	0.384000	0.25694	CAG		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		112	488	1	0	2.34756e-62	0.00361	3.89351e-62	112	488				
HRNR	388697	broad.mit.edu	37	1	152193005	152193005	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:152193005C>T	ENST00000368801.2	-	3	1175	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	367					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G367D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGAACCATG	0.552																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1099-1101)GGC>GAC		hornerin							168.0	156.0	160.0					1																	152193005		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193005C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1100G>A	1.37:g.152193005C>T	ENSP00000357791:p.Gly367Asp						p.G367D	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1176	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		367			3.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1100G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840544	0.16891	.	.	ENSG00000197915	ENST00000368801	T	0.06768	3.26	4.72	2.77	0.32553	.	.	.	.	.	T	0.03095	0.0091	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.49528	0.614	T	0.41070	-0.9529	9	0.44086	T	0.13	.	7.8378	0.29380	0.0:0.7867:0.0:0.2133	.	367	Q86YZ3	HORN_HUMAN	D	367	ENSP00000357791:G367D	ENSP00000357791:G367D	G	-	2	0	HRNR	150459629	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.323000	0.07997	0.546000	0.28920	0.644000	0.83932	GGC		0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		15	198	0	0	0	0.00499	0	15	198				
ZBTB7B	51043	broad.mit.edu	37	1	154987882	154987882	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:154987882G>A	ENST00000368426.3	+	3	883	c.746G>A	c.(745-747)gGg>gAg	p.G249E	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G249E|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G249E|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G283E	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	249					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G249E(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGGCAGTGGGCCGGGGGAC	0.647																																							uc001fgk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GGG>GAG		zinc finger and BTB domain containing 7B							21.0	23.0	22.0					1																	154987882		2202	4299	6501	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987882G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.746G>A	1.37:g.154987882G>A	ENSP00000357411:p.Gly249Glu					ZBTB7B_uc009wpa.2_Missense_Mutation_p.G249E|ZBTB7B_uc001fgj.3_Missense_Mutation_p.G283E|ZBTB7B_uc010peq.1_Missense_Mutation_p.G283E|ZBTB7B_uc001fgl.3_Missense_Mutation_p.G249E	p.G249E	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	904	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		249					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.746G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177794	0.21787	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.08370	3.14;3.14;3.1;3.14	3.98	3.03	0.35002	.	0.521022	0.18213	N	0.148135	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B;B	0.33694	0.421;0.421;0.421	B;B;B	0.25140	0.058;0.039;0.058	T	0.41342	-0.9514	10	0.02654	T	1	.	11.4438	0.50112	0.0:0.1843:0.8157:0.0	.	249;249;283	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	E	249;249;283;249	ENSP00000438647:G249E;ENSP00000357411:G249E;ENSP00000406286:G283E;ENSP00000292176:G249E	ENSP00000292176:G249E	G	+	2	0	ZBTB7B	153254506	0.036000	0.19791	0.884000	0.34674	0.987000	0.75469	0.112000	0.15479	0.986000	0.38683	0.462000	0.41574	GGG		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		8	18	0	0	0	0.004482	0	8	18				
FDPS	2224	broad.mit.edu	37	1	155290372	155290372	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:155290372C>T	ENST00000356657.6	+	11	1394	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	FDPS_ENST00000447866.1_Missense_Mutation_p.A345V|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.A411V|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	411					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A411V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGGGGCTTGCGCGCAAAATC	0.502																																							uc001fkc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)GCG>GTG		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						40.0	40.0	40.0					1																	155290372		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155290372C>T	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1232C>T	1.37:g.155290372C>T	ENSP00000349078:p.Ala411Val					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A345V|FDPS_uc001fke.2_Missense_Mutation_p.A411V|FDPS_uc001fkf.2_Missense_Mutation_p.A345V|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	p.A411V	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		11	1451	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		411					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.1232C>T	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900177	0.33535	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.64260	-0.09;-0.09;-0.09	3.24	2.31	0.28768	Terpenoid synthase (2);	0.214405	0.23545	N	0.047031	T	0.29389	0.0732	L	0.42581	1.335	0.39820	D	0.972826	P	0.34412	0.453	B	0.12156	0.007	T	0.24693	-1.0153	10	0.54805	T	0.06	-0.3817	8.212	0.31488	0.0:0.8771:0.0:0.1229	.	411	P14324	FPPS_HUMAN	V	345;411;411	ENSP00000391755:A345V;ENSP00000357340:A411V;ENSP00000349078:A411V	ENSP00000349078:A411V	A	+	2	0	FDPS	153556996	1.000000	0.71417	0.012000	0.15200	0.211000	0.24417	5.052000	0.64263	0.917000	0.36895	0.462000	0.41574	GCG		0.502	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		15	48	0	0	0	0.004007	0	15	48				
IGSF9	57549	broad.mit.edu	37	1	159900488	159900488	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:159900488G>A	ENST00000368094.1	-	14	2004	c.1807C>T	c.(1807-1809)Ccg>Tcg	p.P603S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P587S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	603	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P587S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACCTTCCGGAGCAGACAAG	0.607																																							uc001fur.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1807-1809)CCG>TCG		immunoglobulin superfamily, member 9 isoform a							63.0	57.0	59.0					1																	159900488		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159900488G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1807C>T	1.37:g.159900488G>A	ENSP00000357073:p.Pro603Ser					IGSF9_uc001fuq.2_Missense_Mutation_p.P587S|IGSF9_uc001fup.2_5'UTR	p.P603S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2005	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	603			Fibronectin type-III 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.1807C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500665	0.44455	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.68331	-0.32;-0.22	5.18	5.18	0.71444	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000667	T	0.46308	0.1386	L	0.36672	1.1	0.36907	D	0.890707	P	0.40360	0.714	B	0.41236	0.351	T	0.49466	-0.8937	9	.	.	.	-11.2679	14.1772	0.65549	0.0:0.0:1.0:0.0	.	603	Q9P2J2	TUTLA_HUMAN	S	587;603	ENSP00000355049:P587S;ENSP00000357073:P603S	.	P	-	1	0	IGSF9	158167112	0.997000	0.39634	0.819000	0.32651	0.897000	0.52465	2.661000	0.46758	2.400000	0.81607	0.462000	0.41574	CCG		0.607	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		4	93	0	0	0	0.000248	0	4	93				
NCF2	4688	broad.mit.edu	37	1	183525357	183525357	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:183525357C>T	ENST00000367535.3	-	15	1728	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	NCF2_ENST00000413720.1_Missense_Mutation_p.E448K|NCF2_ENST00000367536.1_Missense_Mutation_p.E493K|NCF2_ENST00000418089.1_Missense_Mutation_p.E412K	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	493	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.E493K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCCAGCCATTCTTCATTCACT	0.428																																							uc001gqj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1477-1479)GAA>AAA		neutrophil cytosolic factor 2							84.0	85.0	85.0					1																	183525357		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183525357C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1477G>A	1.37:g.183525357C>T	ENSP00000356505:p.Glu493Lys					NCF2_uc010pod.1_Missense_Mutation_p.E448K|NCF2_uc010poe.1_Missense_Mutation_p.E412K|NCF2_uc001gqk.3_Missense_Mutation_p.E493K	p.E493K	NM_000433	NP_000424	P19878	NCF2_HUMAN			15	1752	-			493			SH3 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1477G>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057997	0.76074	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.28	5.28	0.74379	Src homology-3 domain (4);	0.240552	0.48286	D	0.000191	T	0.45418	0.1341	M	0.68728	2.09	0.51233	D	0.999913	P;B;B	0.43938	0.822;0.394;0.304	B;B;P	0.47705	0.371;0.304;0.555	T	0.47736	-0.9094	10	0.72032	D	0.01	-40.9805	18.9217	0.92528	0.0:1.0:0.0:0.0	.	412;448;493	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	K	493;565;448;412;493	ENSP00000356506:E493K;ENSP00000399294:E448K;ENSP00000407217:E412K;ENSP00000356505:E493K	ENSP00000356505:E493K	E	-	1	0	NCF2	181791980	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	5.667000	0.68067	2.446000	0.82766	0.650000	0.86243	GAA		0.428	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		9	118	0	0	0	0.006214	0	9	118				
USH2A	7399	broad.mit.edu	37	1	216496918	216496918	+	Missense_Mutation	SNP	G	G	A	rs201847741	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:216496918G>A	ENST00000307340.3	-	8	1834	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	USH2A_ENST00000366943.2_Missense_Mutation_p.T483M|USH2A_ENST00000366942.3_Missense_Mutation_p.T483M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	483	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T483M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTATTTGCGTGGCTTTTAC	0.413										HNSCC(13;0.011)			G|||	3	0.000599042	0.0008	0.0014	5008	,	,		12957	0.0		0.0	False		,,,				2504	0.001						uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1447-1449)ACG>ATG		usherin isoform B							157.0	157.0	157.0					1																	216496918		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216496918G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1448C>T	1.37:g.216496918G>A	ENSP00000305941:p.Thr483Met	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T483M	p.T483M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1835	-			483			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1448C>T	CCDS31025.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.8	4.198893	0.79015	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.27890	1.96;1.95;1.64	5.5	5.5	0.81552	Laminin, N-terminal (3);	0.000000	0.46442	D	0.000296	T	0.64832	0.2634	M	0.90369	3.11	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.966	T	0.72640	-0.4232	10	0.87932	D	0	.	19.4046	0.94643	0.0:0.0:1.0:0.0	.	483;483	O75445-2;O75445	.;USH2A_HUMAN	M	483	ENSP00000305941:T483M;ENSP00000355910:T483M;ENSP00000355909:T483M	ENSP00000305941:T483M	T	-	2	0	USH2A	214563541	1.000000	0.71417	0.936000	0.37596	0.974000	0.67602	7.204000	0.77872	2.566000	0.86566	0.655000	0.94253	ACG		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	163	0	0	0	0.004482	0	8	163				
ARHGAP21	57584	broad.mit.edu	37	10	24889824	24889824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr10:24889824C>A	ENST00000396432.2	-	14	3369	c.2883G>T	c.(2881-2883)atG>atT	p.M961I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.M748I|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	960	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.M960I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGACAACATACATCTGTTTCC	0.428																																							uc001isb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(2881-2883)ATG>ATT		Rho GTPase activating protein 21							112.0	108.0	110.0					10																	24889824		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889824C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2883G>T	10.37:g.24889824C>A	ENSP00000379709:p.Met961Ile					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.M961I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.M796I	p.M961I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			14	3370	-			960			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2883G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731057	0.69074	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.49	4.58	0.56647	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.075072	0.85682	D	0.000000	T	0.64983	0.2648	N	0.08118	0	0.45621	D	0.998551	B;B	0.23490	0.032;0.086	B;B	0.37047	0.08;0.24	T	0.60919	-0.7167	10	0.24483	T	0.36	.	14.6793	0.69004	0.0:0.929:0.0:0.071	.	951;960	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	961;748;951;961;796	ENSP00000379709:M961I;ENSP00000365604:M748I;ENSP00000365592:M951I;ENSP00000405018:M961I	ENSP00000365604:M748I	M	-	3	0	ARHGAP21	24929830	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.121000	0.41977	2.571000	0.86741	0.655000	0.94253	ATG		0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		11	128	1	0	4.68919e-08	0.008291	6.85731e-08	11	128				
SBF2	81846	broad.mit.edu	37	11	9834135	9834135	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:9834135T>C	ENST00000256190.8	-	30	4236	c.4099A>G	c.(4099-4101)Act>Gct	p.T1367A	SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1367	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T1367A(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGAGTCAGTAGGGATGGTG	0.428																																							uc001mib.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(4099-4101)ACT>GCT		SET binding factor 2							128.0	128.0	128.0					11																	9834135		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9834135T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4099A>G	11.37:g.9834135T>C	ENSP00000256190:p.Thr1367Ala					SBF2_uc001mid.2_Missense_Mutation_p.T11A	p.T1367A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	30	4237	-			1367			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4099A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242489	0.39598	.	.	ENSG00000133812	ENST00000256190	D	0.90261	-2.64	6.17	3.88	0.44766	Myotubularin phosphatase domain (1);	0.451666	0.28766	N	0.014206	T	0.81074	0.4747	N	0.25286	0.73	0.41151	D	0.986026	B	0.09022	0.002	B	0.11329	0.006	T	0.72293	-0.4336	10	0.27082	T	0.32	.	6.0596	0.19830	0.122:0.1322:0.0:0.7458	.	1367	Q86WG5	MTMRD_HUMAN	A	1367	ENSP00000256190:T1367A	ENSP00000256190:T1367A	T	-	1	0	SBF2	9790711	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.856000	0.39389	1.144000	0.42321	0.533000	0.62120	ACT		0.428	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		38	151	0	0	0	0.003755	0	38	151				
KCNA4	3739	broad.mit.edu	37	11	30032876	30032876	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:30032876T>C	ENST00000328224.6	-	2	2583	c.1350A>G	c.(1348-1350)cgA>cgG	p.R450R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	450					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R450R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCCGGAATACTCGGACCAGAC	0.582																																							uc001msk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1348-1350)CGA>CGG		potassium voltage-gated channel, shaker-related							66.0	65.0	66.0					11																	30032876		2052	4226	6278	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032876T>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1350A>G	11.37:g.30032876T>C							p.R450R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2502	-			450			Helical; Voltage-sensor; Name=Segment S4; (Potential).			Silent	SNP	ENST00000328224.6	37	c.1350A>G	CCDS41629.1																																																																																				0.582	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		14	68	0	0	0	0.00245	0	14	68				
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:55432857C>T	ENST00000314259.3	+	1	244	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S72L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCATGTTCTCATCTGTCGTT	0.433																																							uc001nht.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(214-216)TCA>TTA		olfactory receptor, family 4, subfamily C,							262.0	227.0	239.0					11																	55432857		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432857C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.215C>T	11.37:g.55432857C>T	ENSP00000324769:p.Ser72Leu					OR4C6_uc010rik.1_Missense_Mutation_p.S72L	p.S72L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	480	+			72			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.215C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047854	0.36085	.	.	ENSG00000181903	ENST00000314259	T	0.00832	5.64	3.83	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.428413	0.17288	N	0.179762	T	0.03220	0.0094	M	0.91140	3.18	0.09310	N	1	P	0.38420	0.63	B	0.41332	0.354	T	0.07121	-1.0789	10	0.87932	D	0	.	12.3275	0.55020	0.0:0.531:0.469:0.0	.	72	Q8NH72	OR4C6_HUMAN	L	72	ENSP00000324769:S72L	ENSP00000324769:S72L	S	+	2	0	OR4C6	55189433	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.090000	0.11163	0.110000	0.17919	0.543000	0.68304	TCA		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		6	173	0	0	0	0.001168	0	6	173				
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383																																							uc001nmx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(646-648)GAG>AAG		zinc finger protein 91							129.0	109.0	116.0					11																	58378451		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58378451G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.646G>A	11.37:g.58378451G>A	ENSP00000339030:p.Glu216Lys					ZFP91_uc001nmy.3_Missense_Mutation_p.E215K|ZFP91-CNTF_uc010rkm.1_RNA	p.E216K	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			5	814	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	216			Glu-rich.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.646G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707444	0.89018	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11930	2.73	5.33	5.33	0.75918	.	2.135520	0.01760	N	0.030497	T	0.32496	0.0831	N	0.24115	0.695	0.39695	D	0.971101	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.954	T	0.07539	-1.0767	10	0.44086	T	0.13	-19.8711	17.9574	0.89073	0.0:0.0:1.0:0.0	.	216;216	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	K	216	ENSP00000339030:E216K	ENSP00000374569:E216K	E	+	1	0	ZFP91	58135027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.109000	0.77062	2.771000	0.95319	0.650000	0.86243	GAG		0.383	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		3	82	0	0	0	0.000248	0	3	82				
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58723154G>A	ENST00000317391.4	+	8	903	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.R219Q|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498																																							uc001nnf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(562-564)CGA>CAA		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						67.0	66.0	67.0					11																	58723154		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723154G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.563G>A	11.37:g.58723154G>A	ENSP00000322223:p.Arg188Gln					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.R219Q|GLYATL1_uc001nni.1_Missense_Mutation_p.R188Q|GLYATL1_uc001nnj.1_Missense_Mutation_p.R188Q	p.R188Q			Q969I3	GLYL1_HUMAN			8	939	+			188					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.563G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.633211	0.29068	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.17854	2.25;2.25	2.77	-5.54	0.02544	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.417630	0.18365	U	0.143453	T	0.11281	0.0275	M	0.66297	2.02	0.09310	N	1	P;P	0.43578	0.811;0.638	B;B	0.39068	0.258;0.289	T	0.06481	-1.0824	10	0.42905	T	0.14	.	0.5839	0.00716	0.1829:0.3112:0.1945:0.3114	.	219;188	Q969I3-2;Q969I3	.;GLYL1_HUMAN	Q	165;188;219	ENSP00000322223:R188Q;ENSP00000300079:R219Q	ENSP00000300079:R219Q	R	+	2	0	GLYATL1	58479730	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.036000	0.01421	-0.775000	0.04584	-0.718000	0.03613	CGA		0.498	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		21	47	0	0	0	0.002299	0	21	47				
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:62744846C>A	ENST00000377871.3	-	9	1641	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.G459*|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	459					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G459*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTGCCCATTCCCATGCCTGTC	0.612																																							uc001nwk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1375-1377)GGA>TGA		solute carrier family 22 member 6 isoform a							40.0	31.0	35.0					11																	62744846		2201	4298	6499	SO:0001587	stop_gained	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744846C>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1375G>T	11.37:g.62744846C>A	ENSP00000367102:p.Gly459*					SLC22A6_uc001nwl.2_Intron|SLC22A6_uc001nwj.2_Nonsense_Mutation_p.G459*|SLC22A6_uc001nwm.2_Intron	p.G459*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			9	1682	-			459			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Nonsense_Mutation	SNP	ENST00000377871.3	37	c.1375G>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	38	7.176635	0.98114	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2981	0.73925	0.0:1.0:0.0:0.0	.	.	.	.	X	459;438;459	.	ENSP00000353597:G459X	G	-	1	0	SLC22A6	62501422	1.000000	0.71417	0.981000	0.43875	0.726000	0.41606	7.465000	0.80898	2.440000	0.82611	0.561000	0.74099	GGA		0.612	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		3	18	1	0	0.004672	0.004672	0.00616885	3	18				
EXPH5	23086	broad.mit.edu	37	11	108380300	108380300	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:108380300G>C	ENST00000265843.4	-	6	6044	c.5934C>G	c.(5932-5934)taC>taG	p.Y1978*	EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y1902*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y1971*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y1790*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1978					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.Y1978*(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAGGTAGTATTCATCAT	0.383																																							uc001pkk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(5932-5934)TAC>TAG		exophilin 5 isoform a							178.0	177.0	178.0					11																	108380300		2201	4298	6499	SO:0001587	stop_gained	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380300G>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5934C>G	11.37:g.108380300G>C	ENSP00000265843:p.Tyr1978*					EXPH5_uc010rvy.1_Nonsense_Mutation_p.Y1790*|EXPH5_uc010rvz.1_Nonsense_Mutation_p.Y1822*|EXPH5_uc010rwa.1_Nonsense_Mutation_p.Y1902*	p.Y1978*	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	6045	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1978					Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	37	c.5934C>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	46	12.682313	0.99688	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	.	.	.	5.8	3.69	0.42338	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.47584	D	0.999465	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9531	5.3515	0.16038	0.4504:0.0:0.5496:0.0	.	.	.	.	X	1978;1902;1790;1971;808	.	ENSP00000265843:Y1978X	Y	-	3	2	EXPH5	107885510	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.126000	0.15769	1.196000	0.43129	0.563000	0.77884	TAC		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		6	254	0	0	0	0.001984	0	6	254				
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	A	C	rs104894331		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr12:50344816A>C	ENST00000199280.3	+	1	288	c.203A>C	c.(202-204)aAc>aCc	p.N68T	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	68			N -> S (in ANDI). {ECO:0000269|PubMed:9048343}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.N68T(2)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662																																							uc001rvn.2		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)	2	GRCh37	CM970098	AQP2	M	rs104894331	c.(202-204)AAC>ACC		aquaporin 2							41.0	41.0	41.0					12																	50344816		2203	4300	6503	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344816A>C		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.203A>C	12.37:g.50344816A>C	ENSP00000199280:p.Asn68Thr						p.N68T	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	293	+			68		N -> S (in ANDI).	Cytoplasmic (Potential).|NPA 1.		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.203A>C	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414384	0.62511	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.98792	-5.14;-0.93	4.62	4.62	0.57501	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.64402	D	0.000013	D	0.99569	0.9845	H	0.99911	4.935	0.58432	D	0.999993	D	0.89917	1.0	D	0.71870	0.975	D	0.97411	1.0002	10	0.87932	D	0	-19.7917	12.3053	0.54898	1.0:0.0:0.0:0.0	.	68	P41181	AQP2_HUMAN	T	68	ENSP00000199280:N68T;ENSP00000450022:N68T	ENSP00000199280:N68T	N	+	2	0	AQP2	48631083	1.000000	0.71417	0.995000	0.50966	0.381000	0.30169	7.516000	0.81772	1.859000	0.53934	0.533000	0.62120	AAC		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		10	31	0	0	0	0.003954	0	10	31				
ZMYM5	9205	broad.mit.edu	37	13	20411811	20411811	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:20411811A>G	ENST00000337963.4	-	6	1287	c.1023T>C	c.(1021-1023)tgT>tgC	p.C341C	ZMYM5_ENST00000382905.4_Silent_p.C341C|ZMYM5_ENST00000382907.4_3'UTR	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	341						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C341C(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTAATTTACTACAAATTGTAC	0.299																																							uc010tcn.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1021-1023)TGT>TGC		zinc finger protein 237 isoform 3							62.0	67.0	65.0					13																	20411811		2203	4291	6494	SO:0001819	synonymous_variant	9205					nucleus	zinc ion binding	g.chr13:20411811A>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1023T>C	13.37:g.20411811A>G						ZMYM5_uc001umm.1_Silent_p.C165C|ZMYM5_uc001umn.2_Silent_p.C341C|ZMYM5_uc001umo.2_3'UTR	p.C341C	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	6	1288	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	341			MYM-type 2.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	37	c.1023T>C																																																																																					0.299	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		42	35	0	0	0	0.002522	0	42	35				
KATNAL1	84056	broad.mit.edu	37	13	30829613	30829613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:30829613C>A	ENST00000380615.3	-	4	630	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D155Y	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.D155Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTCTATAGTCCTTGTCCCTA	0.463																																							uc001uss.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GAC>TAC		katanin p60 subunit A-like 1							317.0	309.0	312.0					13																	30829613		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30829613C>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.463G>T	13.37:g.30829613C>A	ENSP00000369989:p.Asp155Tyr					KATNAL1_uc001ust.2_Missense_Mutation_p.D155Y	p.D155Y	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	4	564	-		Lung SC(185;0.0257)	155						Missense_Mutation	SNP	ENST00000380615.3	37	c.463G>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739004	0.49045	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94330	-3.4;-3.4	5.27	5.27	0.74061	.	0.327911	0.32328	N	0.006257	D	0.90027	0.6886	N	0.19112	0.55	0.58432	D	0.999999	B	0.29886	0.26	B	0.35859	0.212	D	0.88474	0.3064	10	0.62326	D	0.03	0.4907	19.0892	0.93219	0.0:1.0:0.0:0.0	.	155	Q9BW62	KATL1_HUMAN	Y	155	ENSP00000369989:D155Y;ENSP00000369991:D155Y	ENSP00000369989:D155Y	D	-	1	0	KATNAL1	29727613	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	5.151000	0.64875	2.741000	0.93983	0.650000	0.86243	GAC		0.463	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		114	266	1	0	2.19568e-55	0.00361	3.59774e-55	114	266				
UGGT2	55757	broad.mit.edu	37	13	96579553	96579553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:96579553A>G	ENST00000376747.3	-	18	2085	c.2015T>C	c.(2014-2016)cTa>cCa	p.L672P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	672					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.L672P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCTATCCATTAGAAAATCAAT	0.294																																							uc001vmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2014-2016)CTA>CCA		UDP-glucose ceramide glucosyltransferase-like 2							73.0	72.0	72.0					13																	96579553		2203	4296	6499	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96579553A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2015T>C	13.37:g.96579553A>G	ENSP00000365938:p.Leu672Pro						p.L672P	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			18	2185	-			672					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2015T>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285292	0.59867	.	.	ENSG00000102595	ENST00000376747	T	0.30182	1.54	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.86028	2.79	0.80722	D	1	P	0.50156	0.932	P	0.59171	0.853	T	0.64334	-0.6432	10	0.87932	D	0	-14.3588	16.4116	0.83717	1.0:0.0:0.0:0.0	.	672	Q9NYU1	UGGG2_HUMAN	P	672	ENSP00000365938:L672P	ENSP00000365938:L672P	L	-	2	0	UGGT2	95377554	1.000000	0.71417	0.979000	0.43373	0.291000	0.27294	8.108000	0.89559	2.276000	0.75962	0.528000	0.53228	CTA		0.294	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		29	31	0	0	0	0.00632	0	29	31				
PSEN1	5663	broad.mit.edu	37	14	73659504	73659504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:73659504C>A	ENST00000324501.5	+	7	973	c.701C>A	c.(700-702)gCc>gAc	p.A234D	PSEN1_ENST00000261970.3_Missense_Mutation_p.A234D|PSEN1_ENST00000394164.1_Missense_Mutation_p.A230D|PSEN1_ENST00000357710.4_Missense_Mutation_p.A230D|PSEN1_ENST00000344094.3_Missense_Mutation_p.A234D|PSEN1_ENST00000406768.1_Missense_Mutation_p.A142D|PSEN1_ENST00000557511.1_Missense_Mutation_p.A234D	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	234					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.A234D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCCCTCATGGCCCTGGTGTTT	0.448																																							uc001xnr.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(700-702)GCC>GAC		presenilin 1 isoform I-467							204.0	185.0	191.0					14																	73659504		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73659504C>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.701C>A	14.37:g.73659504C>A	ENSP00000326366:p.Ala234Asp					PSEN1_uc001xnv.2_Missense_Mutation_p.A230D|PSEN1_uc010ark.2_Missense_Mutation_p.A230D|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	p.A234D	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	7	985	+			234			Helical; (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.701C>A	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365688	0.95900	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96726	0.9536	10	0.87932	D	0	-13.5085	19.824	0.96608	0.0:1.0:0.0:0.0	.	230;234	P49768-2;P49768	.;PSN1_HUMAN	D	234;230;234;234;230;234;142	ENSP00000326366:A234D;ENSP00000350342:A230D;ENSP00000261970:A234D;ENSP00000339523:A234D;ENSP00000377719:A230D;ENSP00000451429:A234D;ENSP00000385948:A142D	ENSP00000261970:A234D	A	+	2	0	PSEN1	72729257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.699000	0.92147	0.591000	0.81541	GCC		0.448	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			9	172	1	0	1.76689e-08	0.006214	2.64063e-08	9	172				
IGHV3-48	28424	broad.mit.edu	37	14	106993798	106993798	+	RNA	SNP	C	C	T	rs7146961	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:106993798C>T	ENST00000390624.2	-	0	430									immunoglobulin heavy variable 3-48																		TCACACTGACCTCCCCTCACT	0.587																																							uc010tyt.1		NA																	0					0						c.e187+1		Parts of antibodies, mostly variable regions.							104.0	107.0	106.0					14																	106993798		1893	4077	5970			8755							g.chr14:106993798C>T	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993798C>T														187		-									Splice_Site	SNP	ENST00000390624.2	37	c.8648_splice																																																																																					0.587	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		9	357	0	0	0	0.008291	0	9	357				
VPS13C	54832	broad.mit.edu	37	15	62333557	62333557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:62333557C>G	ENST00000261517.5	-	3	226	c.153G>C	c.(151-153)ttG>ttC	p.L51F	VPS13C_ENST00000395896.4_Missense_Mutation_p.L51F|VPS13C_ENST00000395898.3_Missense_Mutation_p.L51F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L51F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.L51F(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGAACATCCAATTCACTCT	0.318																																							uc002agz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(151-153)TTG>TTC		vacuolar protein sorting 13C protein isoform 2A							74.0	74.0	74.0					15																	62333557		2202	4297	6499	SO:0001583	missense	54832				protein localization			g.chr15:62333557C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.153G>C	15.37:g.62333557C>G	ENSP00000261517:p.Leu51Phe					VPS13C_uc002aha.2_Missense_Mutation_p.L51F|VPS13C_uc002ahb.1_Missense_Mutation_p.L51F|VPS13C_uc002ahc.1_Missense_Mutation_p.L51F	p.L51F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			3	227	-			51						Missense_Mutation	SNP	ENST00000261517.5	37	c.153G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223327	0.58668	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.6	2.66	0.31614	.	0.319264	0.25132	N	0.032894	D	0.82577	0.5067	L	0.50919	1.6	0.45867	D	0.99872	P;P;P;P	0.39903	0.694;0.529;0.694;0.584	B;B;P;B	0.45406	0.381;0.311;0.479;0.439	T	0.80801	-0.1220	10	0.87932	D	0	.	7.5319	0.27687	0.0:0.7075:0.1394:0.1531	.	51;51;51;51	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	F	51	ENSP00000249837:L51F;ENSP00000261517:L51F;ENSP00000379233:L51F;ENSP00000379235:L51F	ENSP00000249837:L51F	L	-	3	2	VPS13C	60120849	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.102000	0.31050	0.716000	0.32124	0.650000	0.86243	TTG		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		16	49	0	0	0	0.007413	0	16	49				
BLM	641	broad.mit.edu	37	15	91341436	91341436	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:91341436A>G	ENST00000355112.3	+	17	3345	c.3227A>G	c.(3226-3228)gAt>gGt	p.D1076G	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.D1076G	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1076					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.D1076G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAACAAGAGATGTGACTGAC	0.294			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(3226-3228)GAT>GGT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							84.0	85.0	84.0					15																	91341436		2198	4296	6494	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91341436A>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3227A>G	15.37:g.91341436A>G	ENSP00000347232:p.Asp1076Gly					BLM_uc010uqh.1_Missense_Mutation_p.D1076G|BLM_uc010uqi.1_Missense_Mutation_p.D701G|BLM_uc010bnx.2_Missense_Mutation_p.D1076G|BLM_uc002bpt.2_Missense_Mutation_p.D51G	p.D1076G	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		17	3324	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1076					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.3227A>G	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155244	0.78114	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.66460	-0.21	5.67	5.67	0.87782	RQC domain (2);	0.049538	0.85682	D	0.000000	T	0.82240	0.4994	M	0.83774	2.66	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.84916	0.0851	10	0.72032	D	0.01	-6.6609	13.8576	0.63537	1.0:0.0:0.0:0.0	.	1076;1076	B2RAN0;P54132	.;BLM_HUMAN	G	1076;706;263	ENSP00000347232:D1076G	ENSP00000347232:D1076G	D	+	2	0	BLM	89142440	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.935000	0.92923	2.165000	0.68154	0.482000	0.46254	GAT		0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			7	57	0	0	0	0.001984	0	7	57				
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:17294482C>T	ENST00000261381.6	-	4	1027	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	315					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.E315K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGGAGTCCTCGTCCCACTGC	0.572																																							uc002dfa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(943-945)GAG>AAG		xylosyltransferase I							217.0	183.0	194.0					16																	17294482		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294482C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.943G>A	16.37:g.17294482C>T	ENSP00000261381:p.Glu315Lys						p.E315K	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			4	1028	-			315			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.943G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558221	0.96514	.	.	ENSG00000103489	ENST00000261381	T	0.04862	3.54	5.33	5.33	0.75918	.	0.047978	0.85682	D	0.000000	T	0.15825	0.0381	M	0.75264	2.295	0.80722	D	1	D	0.63880	0.993	P	0.48304	0.573	T	0.01256	-1.1404	10	0.40728	T	0.16	-39.6818	18.0375	0.89308	0.0:1.0:0.0:0.0	.	315	Q86Y38	XYLT1_HUMAN	K	315	ENSP00000261381:E315K	ENSP00000261381:E315K	E	-	1	0	XYLT1	17201983	1.000000	0.71417	0.987000	0.45799	0.857000	0.48899	7.587000	0.82613	2.490000	0.84030	0.655000	0.94253	GAG		0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		7	222	0	0	0	0.00308	0	7	222				
MVP	9961	broad.mit.edu	37	16	29856130	29856130	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:29856130C>T	ENST00000357402.5	+	11	2089	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	MVP_ENST00000395353.1_Missense_Mutation_p.R651W	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	651			R -> Q (in dbSNP:rs3764944).		cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R651W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGAGGACCCGGGACGCCCT	0.662																																							uc002dui.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1951-1953)CGG>TGG		major vault protein							72.0	73.0	73.0					16																	29856130		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29856130C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1951C>T	16.37:g.29856130C>T	ENSP00000349977:p.Arg651Trp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R651W|MVP_uc010vea.1_Missense_Mutation_p.R245W	p.R651W	NM_005115	NP_005106	Q14764	MVP_HUMAN			11	2035	+			651					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1951C>T	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195214	0.78902	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.38722	1.12;1.12	5.95	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76558	-0.2915	10	0.87932	D	0	-16.9563	14.1653	0.65473	0.1508:0.8491:0.0:0.0	.	651	Q14764	MVP_HUMAN	W	651	ENSP00000349977:R651W;ENSP00000378760:R651W	ENSP00000349977:R651W	R	+	1	2	MVP	29763631	0.998000	0.40836	0.994000	0.49952	0.588000	0.36517	3.837000	0.55820	1.475000	0.48197	0.655000	0.94253	CGG		0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		8	143	0	0	0	0.004482	0	8	143				
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:7578427T>A	ENST00000269305.4	-	5	692	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000420246.2_Missense_Mutation_p.H168L	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	168	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)	CTCCGTCATGTGCTGTGACTG	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		53	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - compound substitution(2)|Insertion - Frameshift(1)	p.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)	lung(10)|breast(8)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|skin(2)|ovary(2)|vulva(1)|soft_tissue(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(502-504)CAC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578427		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578427T>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.503A>T	17.37:g.7578427T>A	ENSP00000269305:p.His168Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H168L|TP53_uc002gih.2_Missense_Mutation_p.H168L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36L|TP53_uc010cng.1_Missense_Mutation_p.H36L|TP53_uc002gii.1_Missense_Mutation_p.H36L|TP53_uc010cnh.1_Missense_Mutation_p.H168L|TP53_uc010cni.1_Missense_Mutation_p.H168L|TP53_uc002gij.2_Missense_Mutation_p.H168L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75L|TP53_uc002gio.2_Missense_Mutation_p.H36L|TP53_uc010vug.1_Missense_Mutation_p.H129L	p.H168L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	697	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	168		QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.503A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089392	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.59	0.619	0.17630	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.433617	0.26390	N	0.024660	D	0.99441	0.9802	M	0.82323	2.585	0.43457	D	0.995658	P;P;B;P;P;P;P	0.47962	0.655;0.903;0.163;0.774;0.763;0.702;0.881	B;P;B;P;P;P;P	0.56788	0.367;0.806;0.085;0.716;0.717;0.748;0.481	D	0.98249	1.0492	10	0.87932	D	0	-5.8035	1.5779	0.02628	0.1555:0.1517:0.1294:0.5634	.	129;168;168;75;168;168;168	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	168;168;168;168;168;168;157;75;36;75;36	ENSP00000410739:H168L;ENSP00000352610:H168L;ENSP00000269305:H168L;ENSP00000398846:H168L;ENSP00000391127:H168L;ENSP00000391478:H168L;ENSP00000425104:H36L;ENSP00000423862:H75L	ENSP00000269305:H168L	H	-	2	0	TP53	7519152	1.000000	0.71417	0.001000	0.08648	0.147000	0.21601	5.155000	0.64900	-0.137000	0.11455	-0.256000	0.11100	CAC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	43	0	0	0	0.001168	0	5	43				
ALOXE3	59344	broad.mit.edu	37	17	8006764	8006764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8006764C>A	ENST00000448843.2	-	15	2173	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q743H|ALOXE3_ENST00000380149.1_Missense_Mutation_p.Q767H	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	611	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.Q611H(1)|p.Q743H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGGGTGGGGGCTGCCTCATGG	0.577																																							uc010cnr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(1831-1833)CAG>CAT		arachidonate lipoxygenase 3 isoform 2							104.0	91.0	96.0					17																	8006764		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8006764C>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1833G>T	17.37:g.8006764C>A	ENSP00000400581:p.Gln611His					ALOXE3_uc002gka.2_Missense_Mutation_p.Q767H|ALOXE3_uc010vuo.1_Missense_Mutation_p.Q743H	p.Q611H	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			15	2203	-			611			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1833G>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781697	0.31502	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.76316	-1.01;-1.01;-1.01	5.14	1.52	0.23074	Lipoxygenase, C-terminal (3);	0.522784	0.22978	N	0.053359	T	0.62756	0.2454	L	0.28115	0.83	0.29862	N	0.827574	B;B;B	0.21606	0.058;0.014;0.014	B;B;B	0.30572	0.117;0.035;0.035	T	0.55276	-0.8166	10	0.33141	T	0.24	-12.4021	6.0769	0.19921	0.0:0.599:0.1385:0.2625	.	743;611;611	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	H	767;743;611	ENSP00000369494:Q767H;ENSP00000314879:Q743H;ENSP00000400581:Q611H	ENSP00000314879:Q743H	Q	-	3	2	ALOXE3	7947489	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-0.760000	0.04756	0.729000	0.32403	0.655000	0.94253	CAG		0.577	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			5	58	1	0	0.000602214	0.000602	0.000810903	5	58				
CTC1	80169	broad.mit.edu	37	17	8138437	8138437	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8138437C>A	ENST00000315684.8	-	8	1380	c.1373G>T	c.(1372-1374)tGg>tTg	p.W458L	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	458					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.W458L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTGACGTTCCCACACCAGCTG	0.642																																							uc002gkq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)TGG>TTG		alpha accessory factor 132							65.0	70.0	69.0					17																	8138437		2061	4187	6248	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138437C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1373G>T	17.37:g.8138437C>A	ENSP00000313759:p.Trp458Leu					C17orf68_uc010cnv.2_RNA	p.W458L	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			8	1432	-			458					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1373G>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	c	9.646	1.140265	0.21205	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	T;T	0.80304	-1.36;-1.36	4.91	3.88	0.44766	.	0.211620	0.32518	N	0.005981	T	0.65101	0.2659	L	0.29908	0.895	0.30581	N	0.762504	B	0.28552	0.215	B	0.26770	0.073	T	0.57130	-0.7864	10	0.10377	T	0.69	-11.4779	9.5439	0.39268	0.225:0.775:0.0:0.0	.	458	Q2NKJ3	CTC1_HUMAN	L	458;423	ENSP00000313759:W458L;ENSP00000396018:W423L	ENSP00000313759:W458L	W	-	2	0	CTC1	8079162	0.998000	0.40836	0.975000	0.42487	0.869000	0.49853	2.699000	0.47077	2.560000	0.86352	0.502000	0.49764	TGG		0.642	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		13	52	1	0	0.000219431	0.00245	0.000298427	13	52				
NF1	4763	broad.mit.edu	37	17	29490291	29490291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:29490291G>T	ENST00000358273.4	+	4	759	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	NF1_ENST00000431387.4_Nonsense_Mutation_p.E126*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E126*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	126					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E126*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACCTGTCGTGAAGGAAACCA	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	p.0?(5)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|lung(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(376-378)GAA>TAA		neurofibromin isoform 1							73.0	72.0	72.0					17																	29490291		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490291G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.376G>T	17.37:g.29490291G>T	ENSP00000351015:p.Glu126*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.E126*|NF1_uc002hgf.1_Nonsense_Mutation_p.E126*|NF1_uc002hgh.2_Nonsense_Mutation_p.E126*|NF1_uc010csn.1_Silent_p.V21V	p.E126*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	709	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	126					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.376G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884490	0.91814	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.1294	0.97995	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000348498:E126X	E	+	1	0	NF1	26514417	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.758000	0.94735	0.591000	0.81541	GAA		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		33	45	1	0	2.68265e-12	0.002836	4.19508e-12	33	45				
KRTAP3-2	83897	broad.mit.edu	37	17	39155965	39155965	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:39155965G>A	ENST00000391587.1	-	1	173	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	47	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C47C(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGTTGTCACAGCAGATGGGCT	0.632																																							uc002hvs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)TGC>TGT		keratin associated protein 3.2							66.0	85.0	78.0					17																	39155965		2201	4295	6496	SO:0001819	synonymous_variant	83897					keratin filament	structural molecule activity	g.chr17:39155965G>A	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"""Keratin associated proteins"""	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.141C>T	17.37:g.39155965G>A							p.C47C	NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN			1	174	-		Breast(137;0.00043)	47			2.|3 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000391587.1	37	c.141C>T	CCDS32644.1																																																																																				0.632	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			8	100	0	0	0	0.00308	0	8	100				
MOCOS	55034	broad.mit.edu	37	18	33775220	33775220	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr18:33775220G>A	ENST00000261326.5	+	2	164	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.G48E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTCTTTCAGGAACTGTCTAT	0.403																																							uc002kzq.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(142-144)GGA>GAA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						134.0	138.0	137.0					18																	33775220		2203	4300	6503	SO:0001630	splice_region_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33775220G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.143-1G>A	18.37:g.33775220G>A							p.G48E	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			2	166	+			48						Missense_Mutation	SNP	ENST00000261326.5	37	c.143G>A	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632685	0.47049	.	.	ENSG00000075643	ENST00000261326	T	0.30714	1.52	5.41	4.54	0.55810	Pyridoxal phosphate-dependent transferase, major domain (1);	0.139126	0.48286	D	0.000188	T	0.15089	0.0364	N	0.08118	0	0.41293	D	0.986996	B	0.14805	0.011	B	0.19666	0.026	T	0.09335	-1.0679	9	.	.	.	.	9.9314	0.41525	0.0933:0.0:0.9067:0.0	.	48	Q96EN8	MOCOS_HUMAN	E	48	ENSP00000261326:G48E	.	G	+	2	0	MOCOS	32029218	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.701000	0.47094	1.286000	0.44565	0.563000	0.77884	GGA		0.403	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		Missense_Mutation	9	114	0	0	0	0.004482	0	9	114				
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G646S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGGACACCGTTCGTGGCC	0.562																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1936-1938)GGT>AGT		mucin 16							123.0	127.0	126.0					19																	9089879		2158	4272	6430	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089879C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1936G>A	19.37:g.9089879C>T	ENSP00000381008:p.Gly646Ser						p.G646S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2140	-			646			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1936G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.752	0.323132	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.03468	3.92	1.56	0.489	0.16854	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	.	.	.	B	0.22480	0.07	B	0.09377	0.004	T	0.41484	-0.9506	8	0.87932	D	0	.	3.2002	0.06647	0.0:0.2599:0.0:0.7401	.	646	B5ME49	.	S	646	ENSP00000381008:G646S	ENSP00000381008:G646S	G	-	1	0	MUC16	8950879	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.659000	0.05323	0.093000	0.17368	0.205000	0.17691	GGT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	149	0	0	0	0.000978	0	10	149				
ICAM1	3383	broad.mit.edu	37	19	10395637	10395637	+	Silent	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:10395637C>G	ENST00000264832.3	+	6	1684	c.1359C>G	c.(1357-1359)ggC>ggG	p.G453G	ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.G231G|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	453	Ig-like C2-type 5.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.G453G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATCTTGAGGGCACCTACCTCT	0.612																																							uc002mnq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1357-1359)GGC>GGG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						53.0	53.0	53.0					19																	10395637		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395637C>G		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1359C>G	19.37:g.10395637C>G						ICAM1_uc010xle.1_Silent_p.G231G|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.G453G	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1678	+			453			Extracellular (Potential).|Ig-like C2-type 5.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1359C>G	CCDS12231.1																																																																																				0.612	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			8	31	0	0	0	0.006214	0	8	31				
FBXW9	84261	broad.mit.edu	37	19	12807331	12807331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:12807331G>A	ENST00000380339.3	-	1	101	c.65C>T	c.(64-66)tCa>tTa	p.S22L	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.S22L|FBXW9_ENST00000393261.3_Missense_Mutation_p.S22L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	22					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.S22L(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GTCTGTCTCTGACTCTGGGTC	0.667																																							uc010dyx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)TCA>TTA		F-box and WD-40 domain protein 9							32.0	36.0	35.0					19																	12807331		2034	4127	6161	SO:0001583	missense	84261						protein binding	g.chr19:12807331G>A	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.65C>T	19.37:g.12807331G>A	ENSP00000369696:p.Ser22Leu					FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.S22L|FBXW9_uc002mun.1_5'UTR	p.S22L	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			1	65	-			22					B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	G	9.193	1.026500	0.19512	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.43294	1.94;0.95	4.37	2.22	0.28083	.	0.220009	0.26891	N	0.021964	T	0.21718	0.0523	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.03875	-1.0996	10	0.39692	T	0.17	-9.9281	7.0806	0.25229	0.2187:0.0:0.7813:0.0	.	22;22	Q5XUX1-2;Q5XUX1-3	.;.	L	22	ENSP00000376945:S22L;ENSP00000369696:S22L	ENSP00000369696:S22L	S	-	2	0	FBXW9	12668331	0.014000	0.17966	0.405000	0.26409	0.096000	0.18686	0.708000	0.25719	0.552000	0.29026	0.462000	0.41574	TCA		0.667	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		19	48	0	0	0	0.008871	0	19	48				
MYO9B	4650	broad.mit.edu	37	19	17213241	17213241	+	Silent	SNP	G	G	A	rs546148022	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:17213241G>A	ENST00000594824.1	+	2	861	c.714G>A	c.(712-714)tcG>tcA	p.S238S	MYO9B_ENST00000397274.2_Silent_p.S238S|MYO9B_ENST00000595618.1_Silent_p.S238S|MYO9B_ENST00000593411.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	238	Myosin motor.			IS -> YP (in Ref. 1; AAC50402). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S238S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCGTGATCTCGGGTGAGAGCG	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		18688	0.003		0.0	False		,,,				2504	0.0						uc010eak.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(712-714)TCG>TCA		myosin IXB isoform 1							54.0	57.0	56.0					19																	17213241		2149	4250	6399	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213241G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.714G>A	19.37:g.17213241G>A						MYO9B_uc002nfi.2_Silent_p.S238S|MYO9B_uc002nfj.1_Silent_p.S238S	p.S238S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	866	+			238	IS -> YP (in Ref. 1; AAC50402).		Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.714G>A																																																																																					0.642	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	69	0	0	0	0.001984	0	7	69				
PEG3	5178	broad.mit.edu	37	19	57325604	57325604	+	Silent	SNP	G	G	A	rs141987198	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:57325604G>A	ENST00000326441.9	-	10	4569	c.4206C>T	c.(4204-4206)gcC>gcT	p.A1402A	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|PEG3_ENST00000423103.2_Silent_p.A1402A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.A1278A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1402	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A1402A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCGGCAGCCTCCA	0.577																																							uc002qnu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4204-4206)GCC>GCT		paternally expressed 3 isoform 1		G	,,,,,,,	1,4345		0,1,2172	43.0	46.0	45.0		4206,3828,4206,3834,,,4206,	-7.2	0.0	19	dbSNP_134	45	1,8413		0,1,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,2,6378	AA,AG,GG		0.0119,0.023,0.0157	,,,,,,,	1402/1589,1276/1463,1402/1589,1278/1465,,,1402/1589,	57325604	2,12758	2173	4207	6380	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325604G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4206C>T	19.37:g.57325604G>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A1373A|PEG3_uc002qnv.2_Silent_p.A1402A|PEG3_uc002qnw.2_Silent_p.A1278A|PEG3_uc002qnx.2_Silent_p.A1276A|PEG3_uc010etr.2_Silent_p.A1402A	p.A1402A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4557	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1402			Glu-rich.|2-1.|3 X 7 AA repeat of P-E-V-E-A-A-E.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4206C>T	CCDS12948.1																																																																																				0.577	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			15	102	0	0	0	0.007413	0	15	102				
DQX1	165545	broad.mit.edu	37	2	74755112	74755112	+	5'Flank	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:74755112G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Silent_p.R231R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R231R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCCCTAGTTGGCGATGAACAG	0.567																																							uc010yrx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)CGC>CGT		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							128.0	132.0	131.0					2																	74755112		1984	4172	6156	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74755112G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755112G>A	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'UTR|AUP1_uc002smf.2_Silent_p.R231R|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.R140R|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.R288R			Q9Y679	AUP1_HUMAN			6	990	-			297			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.864C>T	CCDS1949.2																																																																																				0.567	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		43	122	0	0	0	0.002852	0	43	122				
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:79384709G>A	ENST00000409839.3	-	5	485	c.449C>T	c.(448-450)tCg>tTg	p.S150L	REG3A_ENST00000393878.1_Missense_Mutation_p.S150L|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.S150L	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	150	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.S150L(2)|p.S150W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGTGCTTCTCGACAGGCTCGC	0.527																																							uc002sod.1		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(448-450)TCG>TTG		pancreatitis-associated protein precursor							103.0	105.0	104.0					2																	79384709		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384709G>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.449C>T	2.37:g.79384709G>A	ENSP00000386630:p.Ser150Leu					REG3A_uc002soe.1_Missense_Mutation_p.S150L|REG3A_uc002sof.1_Missense_Mutation_p.S150L	p.S150L	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	704	-			150			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.449C>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849719	0.51270	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.15139	2.45;2.45;2.45	3.87	2.98	0.34508	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.518081	0.16192	N	0.225359	T	0.19046	0.0457	M	0.78285	2.405	0.09310	N	1	P	0.36378	0.55	B	0.31812	0.136	T	0.18116	-1.0347	10	0.66056	D	0.02	.	7.2586	0.26191	0.1206:0.0:0.8794:0.0	.	150	Q06141	REG3A_HUMAN	L	150	ENSP00000386630:S150L;ENSP00000377456:S150L;ENSP00000304311:S150L	ENSP00000304311:S150L	S	-	2	0	REG3A	79238217	0.016000	0.18221	0.002000	0.10522	0.009000	0.06853	2.346000	0.44027	1.202000	0.43218	0.491000	0.48974	TCG		0.527	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		29	93	0	0	0	0.007291	0	29	93				
MRPS5	64969	broad.mit.edu	37	2	95774073	95774073	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:95774073T>G	ENST00000272418.2	-	5	692	c.484A>C	c.(484-486)Aag>Cag	p.K162Q		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	162					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K162Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTCTTCCTTGCTTCTTTGG	0.478																																							uc002sub.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(484-486)AAG>CAG		mitochondrial ribosomal protein S5							157.0	141.0	146.0					2																	95774073		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95774073T>G	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.484A>C	2.37:g.95774073T>G	ENSP00000272418:p.Lys162Gln					MRPS5_uc002suc.2_RNA|MRPS5_uc010yud.1_Missense_Mutation_p.K162Q	p.K162Q	NM_031902	NP_114108	P82675	RT05_HUMAN			5	702	-			162					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.484A>C	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315090	0.23908	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.25	4.06	0.47325	.	0.224693	0.45867	D	0.000324	T	0.49966	0.1588	L	0.61036	1.89	0.35397	D	0.791267	B;B	0.26081	0.141;0.036	B;B	0.23150	0.044;0.009	T	0.53464	-0.8435	9	0.19590	T	0.45	-15.8773	9.7929	0.40717	0.0:0.0:0.3351:0.6649	.	162;162	B4DIW8;P82675	.;RT05_HUMAN	Q	162	.	ENSP00000272418:K162Q	K	-	1	0	MRPS5	95137800	1.000000	0.71417	0.998000	0.56505	0.412000	0.31113	2.575000	0.46025	0.913000	0.36797	0.379000	0.24179	AAG		0.478	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		43	150	0	0	0	0.00361	0	43	150				
VWA3B	200403	broad.mit.edu	37	2	98916570	98916570	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:98916570T>C	ENST00000477737.1	+	25	3515	c.3311T>C	c.(3310-3312)gTg>gCg	p.V1104A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1104								p.V1104A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCAAAATTGTGATACCCAAA	0.373																																							uc002syo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(3310-3312)GTG>GCG		von Willebrand factor A domain containing 3B							227.0	211.0	216.0					2																	98916570		1884	4122	6006	SO:0001583	missense	200403							g.chr2:98916570T>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3311T>C	2.37:g.98916570T>C	ENSP00000417955:p.Val1104Ala					VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.V761A|VWA3B_uc002syp.1_Missense_Mutation_p.V496A|VWA3B_uc002syq.1_Missense_Mutation_p.V380A|VWA3B_uc002syr.1_Missense_Mutation_p.V421A|VWA3B_uc002sys.2_RNA	p.V1104A	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			25	3575	+			1104					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3311T>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.522709	0.00149	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.21191	2.02	4.8	3.64	0.41730	.	2.695020	0.03262	N	0.183407	T	0.15003	0.0362	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.18741	0.03;0.009	B;B	0.26969	0.075;0.004	T	0.34875	-0.9811	10	0.07990	T	0.79	.	5.2819	0.15680	0.0:0.0916:0.1781:0.7303	.	496;1104	Q502W6-5;Q502W6	.;VWA3B_HUMAN	A	1104;226	ENSP00000417955:V1104A	ENSP00000351009:V226A	V	+	2	0	VWA3B	98283002	0.986000	0.35501	0.009000	0.14445	0.030000	0.12068	0.894000	0.28350	0.977000	0.38444	-0.264000	0.10439	GTG		0.373	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		42	192	0	0	0	0.003214	0	42	192				
DPP10	57628	broad.mit.edu	37	2	116534783	116534783	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:116534783G>A	ENST00000410059.1	+	14	1701		c.e14-1		DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.?(4)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTTTGCAGAGTAAAAGTG	0.368																																							uc002tla.1		NA																	4	Unknown(4)		lung(4)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.e14-1		dipeptidyl peptidase 10 isoform long							93.0	92.0	92.0					2																	116534783		2203	4299	6502	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534783G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1222-1G>A	2.37:g.116534783G>A						DPP10_uc002tlb.1_Splice_Site_p.S358_splice|DPP10_uc002tlc.1_Splice_Site_p.S404_splice|DPP10_uc002tle.2_Splice_Site_p.S412_splice|DPP10_uc002tlf.1_Splice_Site_p.S401_splice	p.S408_splice	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			14	1679	+								A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	c.1222_splice	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488829	0.84962	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1089	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116251253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.063000	0.89482	2.731000	0.93534	0.655000	0.94253	.		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	3	40	0	0	0	0.004672	0	3	40				
UGGT1	56886	broad.mit.edu	37	2	128867293	128867293	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:128867293A>G	ENST00000259253.6	+	5	541	c.494A>G	c.(493-495)gAg>gGg	p.E165G	UGGT1_ENST00000375990.3_Missense_Mutation_p.E141G	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	165					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.E165G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATACCCTTGAGGCTCTTCTA	0.408																																							uc002tps.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)GAG>GGG		UDP-glucose ceramide glucosyltransferase-like 1							178.0	162.0	167.0					2																	128867293		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128867293A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.494A>G	2.37:g.128867293A>G	ENSP00000259253:p.Glu165Gly					UGGT1_uc010fme.1_Missense_Mutation_p.E40G|UGGT1_uc002tpr.2_Missense_Mutation_p.E141G	p.E165G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			5	672	+			165					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.494A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	7.588	0.670134	0.14776	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.09255	3.0;3.0	5.5	4.19	0.49359	.	0.426080	0.27451	N	0.019302	T	0.04318	0.0119	N	0.08118	0	0.20821	N	0.999841	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.33954	-0.9848	10	0.25106	T	0.35	.	2.8169	0.05458	0.5566:0.2697:0.1737:0.0	.	141;165	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	G	141;165	ENSP00000365158:E141G;ENSP00000259253:E165G	ENSP00000259253:E165G	E	+	2	0	UGGT1	128583763	0.871000	0.30034	0.865000	0.33974	0.089000	0.18198	1.719000	0.38011	2.209000	0.71365	0.482000	0.46254	GAG		0.408	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		3	98	0	0	0	0.000248	0	3	98				
LY75	4065	broad.mit.edu	37	2	160734964	160734964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:160734964C>T	ENST00000263636.4	-	11	1672	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	LY75_ENST00000553424.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D549N|LY75_ENST00000554112.1_Missense_Mutation_p.D549N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	549	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.D549N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGAGATTTATCATACTTTTTC	0.378																																							uc002ubc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1645-1647)GAT>AAT		lymphocyte antigen 75 precursor							88.0	89.0	88.0					2																	160734964		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160734964C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1645G>A	2.37:g.160734964C>T	ENSP00000263636:p.Asp549Asn					LY75_uc002ubb.3_Missense_Mutation_p.D549N|LY75_uc010fos.2_Missense_Mutation_p.D549N|LY75_uc010fot.1_Missense_Mutation_p.D549N	p.D549N	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	11	1714	-			549			Extracellular (Potential).|C-type lectin 3.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1645G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611336	0.46631	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.10099	2.94;2.94;2.91;2.94;2.94	5.82	3.6	0.41247	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.971401	0.08337	N	0.961375	T	0.07007	0.0178	L	0.27053	0.805	0.26305	N	0.977915	B;B;P;P	0.38504	0.151;0.376;0.525;0.634	B;B;B;B	0.34590	0.158;0.167;0.186;0.085	T	0.29027	-1.0025	10	0.21014	T	0.42	-10.0101	4.6577	0.12626	0.0:0.3421:0.0:0.6579	.	167;549;549;549	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	N	549	ENSP00000451511:D549N;ENSP00000451446:D549N;ENSP00000263636:D549N;ENSP00000423463:D549N;ENSP00000421035:D549N	ENSP00000423463:D549N	D	-	1	0	LY75;LY75-CD302	160443210	0.684000	0.27642	0.972000	0.41901	0.903000	0.53119	1.030000	0.30153	1.290000	0.44636	0.561000	0.74099	GAT		0.378	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			5	89	0	0	0	0.001168	0	5	89				
TTN	7273	broad.mit.edu	37	2	179596231	179596231	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:179596231C>G	ENST00000591111.1	-	57	16535	c.16311G>C	c.(16309-16311)aaG>aaC	p.K5437N	TTN_ENST00000589042.1_Missense_Mutation_p.K5754N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4510N|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12257	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K4510N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGAGCCCTTCAGAGTGG	0.473																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13528-13530)AAG>AAC		titin isoform N2-A							55.0	54.0	54.0					2																	179596231		1902	4124	6026	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596231C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16311G>C	2.37:g.179596231C>G	ENSP00000465570:p.Lys5437Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1171N	p.K4510N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13754	-			5437					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13530G>C		.	.	.	.	.	.	.	.	.	.	C	7.452	0.642979	0.14451	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.59	1.29	0.21616	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68109	0.2965	L	0.48362	1.52	0.80722	D	1	D	0.54772	0.968	P	0.55303	0.773	T	0.66716	-0.5853	9	0.87932	D	0	.	10.0401	0.42153	0.0:0.2741:0.0:0.7259	.	5437	Q8WZ42	TITIN_HUMAN	N	4510	ENSP00000343764:K4510N	ENSP00000343764:K4510N	K	-	3	2	TTN	179304476	0.069000	0.21087	0.998000	0.56505	0.990000	0.78478	-0.625000	0.05534	-0.003000	0.14444	0.561000	0.74099	AAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	38	0	0	0	0.004007	0	16	38				
ITGAV	3685	broad.mit.edu	37	2	187529903	187529903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:187529903G>T	ENST00000261023.3	+	21	2398	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672H|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662H	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	708					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.Q708H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AAACTCGCCAGGTGGTATGTG	0.358																																					Melanoma(58;108 1995 6081)	Melanoma(58;108 1995 6081)	uc002upq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2122-2124)CAG>CAT		integrin alpha-V isoform 1 precursor							75.0	76.0	76.0					2																	187529903		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187529903G>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2124G>T	2.37:g.187529903G>T	ENSP00000261023:p.Gln708His					ITGAV_uc010frs.2_Missense_Mutation_p.Q672H|ITGAV_uc010zfv.1_Missense_Mutation_p.Q662H	p.Q708H	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	21	2400	+			708			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2124G>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762100	0.69763	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46819	0.86;0.86;0.86	5.78	3.04	0.35103	Integrin alpha-2 (1);	0.276884	0.40222	N	0.001159	T	0.38852	0.1056	N	0.19112	0.55	0.34692	D	0.725874	D;P;D	0.54047	0.964;0.837;0.964	P;P;P	0.51701	0.677;0.605;0.677	T	0.52764	-0.8532	10	0.87932	D	0	.	6.3993	0.21630	0.2105:0.1318:0.6576:0.0	.	662;672;708	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	H	708;672;662	ENSP00000261023:Q708H;ENSP00000364042:Q672H;ENSP00000404291:Q662H	ENSP00000261023:Q708H	Q	+	3	2	ITGAV	187238148	0.961000	0.32948	1.000000	0.80357	0.998000	0.95712	0.540000	0.23191	0.800000	0.34041	0.585000	0.79938	CAG		0.358	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		5	51	1	0	3.59834e-05	0.001168	4.99361e-05	5	51				
CXCR2	3579	broad.mit.edu	37	2	218999975	218999975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:218999975G>A	ENST00000318507.2	+	3	878	c.451G>A	c.(451-453)Gcc>Acc	p.A151T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	151					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.A151T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATTGTCCATGCCACACGCAC	0.537																																							uc002vgz.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(451-453)GCC>ACC		interleukin 8 receptor beta							107.0	95.0	99.0					2																	218999975		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999975G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.451G>A	2.37:g.218999975G>A	ENSP00000319635:p.Ala151Thr					CXCR2_uc002vha.1_Missense_Mutation_p.A151T|CXCR2_uc002vhb.1_Missense_Mutation_p.A151T	p.A151T	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	676	+			151			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.451G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154063	0.94645	.	.	ENSG00000180871	ENST00000453237;ENST00000318507;ENST00000428565	T;T;T	0.38240	1.15;1.15;1.15	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.056228	0.64402	D	0.000001	T	0.63873	0.2548	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69053	-0.5247	10	0.87932	D	0	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	151	P25025	CXCR2_HUMAN	T	151	ENSP00000413686:A151T;ENSP00000319635:A151T;ENSP00000392698:A151T	ENSP00000319635:A151T	A	+	1	0	CXCR2	218708220	1.000000	0.71417	0.981000	0.43875	0.931000	0.56810	7.678000	0.84035	2.529000	0.85273	0.456000	0.33151	GCC		0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		8	71	0	0	0	0.006214	0	8	71				
PTPRN	5798	broad.mit.edu	37	2	220167372	220167372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:220167372G>T	ENST00000295718.2	-	5	805	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	PTPRN_ENST00000409251.3_Missense_Mutation_p.L189M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L99M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	189					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L189M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGGGCAGCAGCAGGTGCTCC	0.632																																							uc002vkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(565-567)CTG>ATG		protein tyrosine phosphatase, receptor type, N							41.0	49.0	46.0					2																	220167372		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167372G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.565C>A	2.37:g.220167372G>T	ENSP00000295718:p.Leu189Met					PTPRN_uc010zlc.1_Missense_Mutation_p.L99M|PTPRN_uc002vla.2_Missense_Mutation_p.L189M	p.L189M	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	5	654	-		Renal(207;0.0474)	189			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.565C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297922	0.60086	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000412847;ENST00000446182;ENST00000440552	T;T;T	0.08984	3.03;3.29;3.28	4.84	4.84	0.62591	.	0.000000	0.37809	N	0.001924	T	0.20700	0.0498	L	0.50333	1.59	0.33993	D	0.649326	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.07424	-1.0773	10	0.48119	T	0.1	.	10.4739	0.44652	0.0901:0.0:0.9099:0.0	.	189;189	Q6NSL1;Q16849	.;PTPRN_HUMAN	M	189;189;189;99;99;99;156	ENSP00000386638:L189M;ENSP00000295718:L189M;ENSP00000444244:L99M	ENSP00000295718:L189M	L	-	1	2	PTPRN	219875616	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.276000	0.58933	2.517000	0.84864	0.561000	0.74099	CTG		0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			9	53	1	0	1.08611e-07	0.000978	1.57139e-07	9	53				
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	100										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363																																							uc010ztl.1		NA																	0					0						c.(208-210)AAA>TAA		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001587	stop_gained	284802							g.chr20:29628296A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.298A>T	20.37:g.29628296A>T	ENSP00000278882:p.Lys100*					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Nonsense_Mutation_p.K22*	p.K70*							3	240	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.208A>T		.	.	.	.	.	.	.	.	.	.	a	35	5.542616	0.96474	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.204250	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1326	0.14919	0.6914:0.3086:0.0:0.0	.	.	.	.	X	100;105;100	.	ENSP00000278882:K100X	K	+	1	0	FRG1B	28241957	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.124000	0.71620	1.208000	0.43306	0.347000	0.21830	AAA		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	50	0	0	0	0.000602	0	4	50				
MYT1	4661	broad.mit.edu	37	20	62854714	62854714	+	Splice_Site	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:62854714T>C	ENST00000328439.1	+	16	2892		c.e16+2		MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Splice_Site	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGACCTCAAGTATGTTTGCGC	0.552																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e16+2		myelin transcription factor 1							198.0	198.0	198.0					20																	62854714		2203	4300	6503	SO:0001630	splice_region_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854714T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2528+2T>C	20.37:g.62854714T>C						MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Splice_Site_p.K502_splice	p.K843_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN			16	2892	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)							B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Splice_Site	SNP	ENST00000328439.1	37	c.2528_splice	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884089	0.91814	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2318	0.73395	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYT1	62325158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.891000	0.87319	1.994000	0.58287	0.533000	0.62120	.		0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	Intron	127	166	0	0	0	0.00361	0	127	166				
KRTAP10-7	386675	broad.mit.edu	37	21	46021597	46021597	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr21:46021597G>T	ENST00000380102.2	+	1	1101	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	359	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGCCCCGCATGCTCCCGCCCA	0.662																																							uc002zfn.3		NA																	0					0						c.(1060-1062)TGC>TTC		keratin associated protein 10-7							32.0	37.0	36.0					21																	46021597		2177	4261	6438	SO:0001583	missense	386675					keratin filament		g.chr21:46021597G>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1076G>T	21.37:g.46021597G>T	ENSP00000369445:p.Cys359Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C354F	NM_198689	NP_941962	P60409	KR107_HUMAN			2	1086	+			359			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.1061G>T		.	.	.	.	.	.	.	.	.	.	g	5.125	0.208710	0.09757	.	.	ENSG00000205441	ENST00000380102	T	0.00730	5.77	3.89	3.0	0.34707	.	.	.	.	.	T	0.01870	0.0059	M	0.88979	2.995	0.30784	N	0.741693	B	0.28324	0.207	B	0.26969	0.075	T	0.01001	-1.1485	9	0.87932	D	0	.	9.2816	0.37731	0.1107:0.0:0.8893:0.0	.	354	P60409-2	.	F	359	ENSP00000369445:C359F	ENSP00000369445:C359F	C	+	2	0	KRTAP10-7	44846025	0.168000	0.22989	0.120000	0.21714	0.015000	0.08874	1.389000	0.34453	0.755000	0.32990	0.467000	0.42956	TGC		0.662	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		12	43	1	0	2.68362e-12	0.001368	4.19508e-12	12	43				
TTLL3	26140	broad.mit.edu	37	3	9867508	9867508	+	Silent	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:9867508C>A	ENST00000547186.1	+	8	966	c.750C>A	c.(748-750)ctC>ctA	p.L250L	ARPC4-TTLL3_ENST00000397256.1_Silent_p.L311L|TTLL3_ENST00000397241.1_Silent_p.L38L|TTLL3_ENST00000426895.4_Silent_p.L393L|TTLL3_ENST00000427853.3_Silent_p.L38L|TTLL3_ENST00000430793.1_Silent_p.L38L|TTLL3_ENST00000383827.1_Silent_p.L38L|TTLL3_ENST00000455274.1_Silent_p.L38L	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	250	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.L250L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCAGGCACCTCGACACTCAGG	0.587																																							uc003btg.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(748-750)CTC>CTA		tubulin tyrosine ligase-like family, member 3							72.0	64.0	66.0					3																	9867508		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9867508C>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.750C>A	3.37:g.9867508C>A						ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Silent_p.L217L|TTLL3_uc003btf.3_Silent_p.L38L|TTLL3_uc010hco.1_Silent_p.L186L|TTLL3_uc003bth.3_Silent_p.L38L|TTLL3_uc011atj.1_Silent_p.L186L|TTLL3_uc003btj.3_Silent_p.L38L|TTLL3_uc003bti.3_Silent_p.L38L|TTLL3_uc003btk.2_Silent_p.L53L	p.L250L	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			8	966	+	Medulloblastoma(99;0.227)		250			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.750C>A																																																																																					0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		14	45	1	0	3.27435e-08	0.00245	4.84035e-08	14	45				
KAT2B	8850	broad.mit.edu	37	3	20082268	20082268	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:20082268G>A	ENST00000263754.4	+	1	754	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	100					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.C100Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TACTCCGCCTGCAAGGTACGC	0.711																																							uc003cbq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(298-300)TGC>TAC		K(lysine) acetyltransferase 2B							13.0	16.0	15.0					3																	20082268		2042	4060	6102	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082268G>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.299G>A	3.37:g.20082268G>A	ENSP00000263754:p.Cys100Tyr						p.C100Y	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			1	745	+			100					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.299G>A	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421163	0.83559	.	.	ENSG00000114166	ENST00000263754	T	0.32988	1.43	2.82	2.82	0.32997	PCAF, N-terminal (1);	0.065675	0.64402	U	0.000007	T	0.56292	0.1975	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64483	-0.6397	10	0.87932	D	0	-0.5637	12.6506	0.56759	0.0:0.0:1.0:0.0	.	100	Q92831	KAT2B_HUMAN	Y	100	ENSP00000263754:C100Y	ENSP00000263754:C100Y	C	+	2	0	KAT2B	20057272	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.229000	0.65316	1.282000	0.44496	0.456000	0.33151	TGC		0.711	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		9	30	0	0	0	0.004482	0	9	30				
RFC1	5981	broad.mit.edu	37	4	39291651	39291651	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:39291651T>C	ENST00000381897.1	-	24	3313	c.3180A>G	c.(3178-3180)gcA>gcG	p.A1060A	RFC1_ENST00000349703.2_Silent_p.A1059A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1060					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.A1060A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGTGAAGGCTGCTTTCACCT	0.438																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(3178-3180)GCA>GCG		replication factor C large subunit							145.0	138.0	140.0					4																	39291651		2203	4300	6503	SO:0001819	synonymous_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291651T>C	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3180A>G	4.37:g.39291651T>C						RFC1_uc003gtx.1_Silent_p.A1059A	p.A1060A	NM_002913	NP_002904	P35251	RFC1_HUMAN			24	3314	-			1060					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	c.3180A>G	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250792	0.22880	.	.	ENSG00000035928	ENST00000514572	.	.	.	5.53	-7.61	0.01299	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38520	-0.9657	4	.	.	.	-16.9168	1.8437	0.03155	0.4575:0.2337:0.0937:0.2151	.	.	.	.	G	37	.	.	S	-	1	0	RFC1	38968046	0.026000	0.19158	0.750000	0.31169	0.973000	0.67179	-1.019000	0.03622	-1.615000	0.01573	0.459000	0.35465	AGC		0.438	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		47	164	0	0	0	0.00361	0	47	164				
GABRA2	2555	broad.mit.edu	37	4	46252531	46252531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46252531G>T	ENST00000510861.1	-	10	1323	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	384					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L384I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGGTGGAGAGAACTGGATCT	0.418																																							uc003gxc.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(2)	4						c.(1150-1152)CTC>ATC		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160.0	160.0	160.0					4																	46252531		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252531G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1150C>A	4.37:g.46252531G>T	ENSP00000421828:p.Leu384Ile					GABRA2_uc010igc.2_Missense_Mutation_p.L384I|GABRA2_uc011bzc.1_Missense_Mutation_p.L389I	p.L384I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	1823	-			384			Cytoplasmic (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1150C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732330	0.48939	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.060792	0.64402	D	0.000002	D	0.84188	0.5417	N	0.21282	0.65	0.22457	N	0.999083	P;B	0.49961	0.93;0.153	P;B	0.48425	0.577;0.095	T	0.75473	-0.3305	10	0.23302	T	0.38	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	389;384	B7Z1H8;P47869	.;GBRA2_HUMAN	I	384;384;384;384;389;444	ENSP00000421828:L384I;ENSP00000421300:L384I;ENSP00000371033:L384I;ENSP00000348897:L384I;ENSP00000444409:L389I;ENSP00000427603:L444I	ENSP00000348897:L384I	L	-	1	0	GABRA2	45947288	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	4.011000	0.57124	2.827000	0.97445	0.655000	0.94253	CTC		0.418	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			81	308	1	0	9.90312e-32	0.00361	1.60336e-31	81	308				
GABRA4	2557	broad.mit.edu	37	4	46930366	46930366	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46930366C>T	ENST00000264318.3	-	9	2523	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	514					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G514D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTACTTGTGCCAGATCCAGA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1540-1542)GGC>GAC		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						135.0	131.0	132.0					4																	46930366		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930366C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1541G>A	4.37:g.46930366C>T	ENSP00000264318:p.Gly514Asp						p.G514D	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1680	-			514			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1541G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808089	0.90707	.	.	ENSG00000109158	ENST00000264318	D	0.84873	-1.91	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81326	-0.0983	10	0.06494	T	0.89	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	514	P48169	GBRA4_HUMAN	D	514	ENSP00000264318:G514D	ENSP00000264318:G514D	G	-	2	0	GABRA4	46625123	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.731000	0.84895	2.765000	0.95021	0.650000	0.86243	GGC		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			41	173	0	0	0	0.00361	0	41	173				
TEC	7006	broad.mit.edu	37	4	48151596	48151596	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:48151596T>A	ENST00000381501.3	-	11	1141	c.984A>T	c.(982-984)gaA>gaT	p.E328D	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	328	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E328D(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GCTTATGATATTCAATAATCT	0.353																																							uc003gxz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(982-984)GAA>GAT		tec protein tyrosine kinase							177.0	169.0	172.0					4																	48151596		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48151596T>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.984A>T	4.37:g.48151596T>A	ENSP00000370912:p.Glu328Asp						p.E328D	NM_003215	NP_003206	P42680	TEC_HUMAN			11	1075	-			328			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.984A>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343279	0.24339	.	.	ENSG00000135605	ENST00000381501	D	0.92805	-3.11	5.8	-3.69	0.04450	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	L	0.28344	0.845	0.31051	N	0.715191	B	0.10296	0.003	B	0.16289	0.015	T	0.67921	-0.5545	10	0.19147	T	0.46	.	11.0725	0.48012	0.1029:0.549:0.0:0.3481	.	328	P42680	TEC_HUMAN	D	328	ENSP00000370912:E328D	ENSP00000370912:E328D	E	-	3	2	TEC	47846353	0.000000	0.05858	0.974000	0.42286	0.325000	0.28411	-3.005000	0.00650	-0.634000	0.05538	-0.376000	0.06991	GAA		0.353	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			21	72	0	0	0	0.00333	0	21	72				
YTHDC1	91746	broad.mit.edu	37	4	69182124	69182124	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:69182124A>T	ENST00000344157.4	-	16	2202	c.1867T>A	c.(1867-1869)Tat>Aat	p.Y623N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	623	Pro-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y623N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGGTGCTGATAGTAAGGATGG	0.448																																							uc003hdx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1867-1869)TAT>AAT		splicing factor YT521-B isoform 1							342.0	288.0	307.0					4																	69182124		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69182124A>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1867T>A	4.37:g.69182124A>T	ENSP00000339245:p.Tyr623Asn					YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605N	p.Y623N	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			16	2220	-			623			Pro-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1867T>A	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994869	0.74703	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.26660	1.73;1.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.27020	-1.0086	10	0.66056	D	0.02	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	605;623	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	623;605	ENSP00000339245:Y623N;ENSP00000347888:Y605N	ENSP00000339245:Y623N	Y	-	1	0	YTHDC1	68864719	1.000000	0.71417	0.974000	0.42286	0.970000	0.65996	7.657000	0.83745	2.326000	0.78906	0.533000	0.62120	TAT		0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		54	191	0	0	0	0.00361	0	54	191				
IBSP	3381	broad.mit.edu	37	4	88732809	88732809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:88732809G>T	ENST00000226284.5	+	7	768	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	234					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.G234V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CCAAATGGTGGGTTTGAACCT	0.532																																							uc003hqx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GGG>GTG		integrin-binding sialoprotein precursor							106.0	103.0	104.0					4																	88732809		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732809G>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.701G>T	4.37:g.88732809G>T	ENSP00000226284:p.Gly234Val						p.G234V	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	799	+		Hepatocellular(203;0.114)	234						Missense_Mutation	SNP	ENST00000226284.5	37	c.701G>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	3.142	-0.176032	0.06380	.	.	ENSG00000029559	ENST00000226284	T	0.21734	1.99	5.36	2.57	0.30868	.	0.199950	0.35349	N	0.003274	T	0.21145	0.0509	M	0.70595	2.14	0.21802	N	0.999532	B	0.18310	0.027	B	0.23018	0.043	T	0.24548	-1.0157	10	0.59425	D	0.04	.	4.6201	0.12445	0.218:0.0:0.6276:0.1545	.	234	P21815	SIAL_HUMAN	V	234	ENSP00000226284:G234V	ENSP00000226284:G234V	G	+	2	0	IBSP	88951833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.232000	0.17891	0.655000	0.30866	-1.057000	0.02308	GGG		0.532	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			9	39	1	0	7.48243e-07	0.006214	1.06001e-06	9	39				
CDH18	1016	broad.mit.edu	37	5	19612631	19612631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:19612631C>A	ENST00000507958.1	-	8	1713	c.723G>T	c.(721-723)atG>atT	p.M241I	CDH18_ENST00000511273.1_Missense_Mutation_p.M241I|CDH18_ENST00000506372.1_Missense_Mutation_p.M241I|CDH18_ENST00000382275.1_Missense_Mutation_p.M241I|CDH18_ENST00000274170.4_Missense_Mutation_p.M241I|CDH18_ENST00000502796.1_Missense_Mutation_p.M241I			Q13634	CAD18_HUMAN	cadherin 18, type 2	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M241I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTGCCCAGCCATGTCTTTGG	0.418																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(721-723)ATG>ATT		cadherin 18, type 2 preproprotein							143.0	132.0	136.0					5																	19612631		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612631C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.723G>T	5.37:g.19612631C>A	ENSP00000425093:p.Met241Ile					CDH18_uc003jgd.2_Missense_Mutation_p.M241I|CDH18_uc011cnm.1_Missense_Mutation_p.M241I	p.M241I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			5	1100	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		241			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.723G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139239	0.94560	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	0.99;1.0	D;D	0.91635	0.972;0.999	T	0.66610	-0.5880	9	.	.	.	.	18.9386	0.92597	0.0:1.0:0.0:0.0	.	241;241	B4DHG6;Q13634	.;CAD18_HUMAN	I	241;241;241;241;241;241;187;241	ENSP00000371710:M241I;ENSP00000425093:M241I;ENSP00000274170:M241I;ENSP00000424931:M241I;ENSP00000422138:M241I;ENSP00000427383:M187I;ENSP00000425854:M241I	.	M	-	3	0	CDH18	19648388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.672000	0.83956	2.817000	0.96982	0.563000	0.77884	ATG		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		26	88	1	0	6.36457e-07	0.003954	9.11139e-07	26	88				
CDH9	1007	broad.mit.edu	37	5	26903797	26903797	+	Missense_Mutation	SNP	G	G	T	rs143973229		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:26903797G>T	ENST00000231021.4	-	6	1120	c.948C>A	c.(946-948)ttC>ttA	p.F316L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F316L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATGACATCGAACATGTCTG	0.408																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(946-948)TTC>TTA		cadherin 9, type 2 preproprotein							288.0	255.0	266.0					5																	26903797		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903797G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.948C>A	5.37:g.26903797G>T	ENSP00000231021:p.Phe316Leu					CDH9_uc010iug.2_Missense_Mutation_p.F316L	p.F316L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1117	-			316			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.948C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169195	0.57584	.	.	ENSG00000113100	ENST00000231021	T	0.70749	-0.51	5.74	-7.89	0.01174	Cadherin (4);Cadherin-like (1);	0.098062	0.64402	N	0.000001	T	0.78000	0.4215	M	0.93763	3.455	0.30854	N	0.734227	B	0.20780	0.048	B	0.35859	0.212	T	0.64373	-0.6423	9	.	.	.	.	19.8716	0.96853	0.8611:0.0:0.1389:0.0	.	316	Q9ULB4	CADH9_HUMAN	L	316	ENSP00000231021:F316L	.	F	-	3	2	CDH9	26939554	0.989000	0.36119	0.504000	0.27639	0.991000	0.79684	0.298000	0.19120	-1.598000	0.01607	-0.156000	0.13503	TTC		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		18	326	1	0	8.00594e-06	0.007413	1.12248e-05	18	326				
ADAMTS12	81792	broad.mit.edu	37	5	33546240	33546240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:33546240C>T	ENST00000504830.1	-	22	4705	c.4370G>A	c.(4369-4371)tGg>tAg	p.W1457*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1372*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1457	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W1457*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTTTGTCCAATCACAGAG	0.502										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4369-4371)TGG>TAG		ADAM metallopeptidase with thrombospondin type 1							119.0	103.0	109.0					5																	33546240		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33546240C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4370G>A	5.37:g.33546240C>T	ENSP00000422554:p.Trp1457*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.W1372*	p.W1457*	NM_030955	NP_112217	P58397	ATS12_HUMAN			22	4533	-			1457			TSP type-1 7.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.4370G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	46	12.435193	0.99667	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.36	5.36	0.76844	.	0.350313	0.32002	N	0.006737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.6266	0.68626	0.0:1.0:0.0:0.0	.	.	.	.	X	1457;1372	.	ENSP00000344847:W1372X	W	-	2	0	ADAMTS12	33581997	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.968000	0.49224	2.523000	0.85059	0.655000	0.94253	TGG		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		41	65	0	0	0	0.002222	0	41	65				
FBXO4	26272	broad.mit.edu	37	5	41934094	41934094	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:41934094C>T	ENST00000281623.3	+	4	749	c.693C>T	c.(691-693)ttC>ttT	p.F231F	FBXO4_ENST00000296812.2_Silent_p.F231F|FBXO4_ENST00000509134.1_Silent_p.F231F	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	231					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.F231F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AACATAAATTCAACATTCTAA	0.328																																							uc003jmq.2		NA																	1	Substitution - coding silent(1)		lung(1)	liver(1)	1						c.(691-693)TTC>TTT		F-box only protein 4 isoform 1							101.0	102.0	102.0					5																	41934094		2203	4300	6503	SO:0001819	synonymous_variant	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41934094C>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.693C>T	5.37:g.41934094C>T						FBXO4_uc003jmp.2_Silent_p.F231F|FBXO4_uc003jmr.2_Silent_p.F231F	p.F231F	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			4	749	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	231					Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	c.693C>T	CCDS3938.1																																																																																				0.328	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			33	72	0	0	0	0.004289	0	33	72				
CWC27	10283	broad.mit.edu	37	5	64070566	64070566	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:64070566A>G	ENST00000381070.3	+	2	308	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	CWC27_ENST00000508024.1_Missense_Mutation_p.K31E	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	31	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K31E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GTTGTGGTCCAAAGAAGCTCC	0.279																																							uc003jtn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)AAA>GAA		serologically defined colon cancer antigen 10							83.0	90.0	87.0					5																	64070566		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64070566A>G	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.91A>G	5.37:g.64070566A>G	ENSP00000370460:p.Lys31Glu					CWC27_uc003jtl.2_Missense_Mutation_p.K31E|CWC27_uc003jtm.2_Missense_Mutation_p.K31E|CWC27_uc010iwt.1_Missense_Mutation_p.K31E	p.K31E	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			2	310	+			31			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.91A>G	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612189	0.87258	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.39787	1.06;1.06	5.12	5.12	0.69794	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.984;1.0;0.999;1.0	P;D;D;D	0.75020	0.903;0.985;0.972;0.984	T	0.55623	-0.8112	10	0.48119	T	0.1	.	15.3753	0.74598	1.0:0.0:0.0:0.0	.	31;31;31;31	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	E	31	ENSP00000370460:K31E;ENSP00000426802:K31E	ENSP00000370460:K31E	K	+	1	0	CWC27	64106322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.567000	0.90737	2.275000	0.75901	0.528000	0.53228	AAA		0.279	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		36	133	0	0	0	0.004878	0	36	133				
SPATA9	83890	broad.mit.edu	37	5	95011208	95011208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:95011208G>A	ENST00000274432.8	-	3	427	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.Q96*	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q96*(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CATGCAAGCTGAGGATGCAGA	0.443																																							uc003klj.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(286-288)CAG>TAG		spermatogenesis associated 9							176.0	147.0	157.0					5																	95011208		2203	4300	6503	SO:0001587	stop_gained	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95011208G>A	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.286C>T	5.37:g.95011208G>A	ENSP00000274432:p.Gln96*					SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	p.Q96*	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	3	442	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	96					A8K8H3|Q4G122|Q86X33|Q8NA28	Nonsense_Mutation	SNP	ENST00000274432.8	37	c.286C>T	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054184	0.55218	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	.	.	.	4.76	4.76	0.60689	.	0.398357	0.21482	N	0.073805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.4396	13.4455	0.61138	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000274432:Q96X	Q	-	1	0	SPATA9	95036964	0.268000	0.24133	0.947000	0.38551	0.179000	0.23085	1.353000	0.34045	2.627000	0.88993	0.655000	0.94253	CAG		0.443	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		8	97	0	0	0	0.00308	0	8	97				
PCDHGA9	56107	broad.mit.edu	37	5	140782870	140782870	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:140782870C>T	ENST00000573521.1	+	1	351	c.351C>T	c.(349-351)taC>taT	p.Y117Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACTGTACGGAATAGAAA	0.498																																							uc003lkh.1		NA																	0					0						c.(349-351)TAC>TAT		protocadherin gamma subfamily A, 9 isoform 1							74.0	77.0	76.0					5																	140782870		1920	4163	6083	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782870C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.351C>T	5.37:g.140782870C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.Y117Y	p.Y117Y	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	351	+			117			Cadherin 1.|Extracellular (Potential).		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.351C>T	CCDS58981.1																																																																																				0.498	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		14	101	0	0	0	0.001855	0	14	101				
AEBP1	165	broad.mit.edu	37	7	44149709	44149709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:44149709C>T	ENST00000223357.3	+	10	1551	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	416	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R416W(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAGCGCGGCCGGCTCAACAT	0.652																																							uc003tkb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)CGG>TGG		adipocyte enhancer binding protein 1 precursor							47.0	45.0	46.0					7																	44149709		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44149709C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1246C>T	7.37:g.44149709C>T	ENSP00000223357:p.Arg416Trp					AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	p.R416W	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			10	1551	+			416			Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1246C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394902	0.83011	.	.	ENSG00000106624	ENST00000223357	D	0.97994	-4.65	5.24	4.27	0.50696	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.99296	0.9754	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98283	1.0509	10	0.87932	D	0	-39.3285	16.1702	0.81808	0.1424:0.8576:0.0:0.0	.	416	Q8IUX7	AEBP1_HUMAN	W	416	ENSP00000223357:R416W	ENSP00000223357:R416W	R	+	1	2	AEBP1	44116234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.458000	0.83093	0.561000	0.74099	CGG		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		10	53	0	0	0	0.008291	0	10	53				
TBL2	26608	broad.mit.edu	37	7	72985560	72985560	+	Silent	SNP	G	G	T	rs150420769	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:72985560G>T	ENST00000305632.5	-	6	1078	c.837C>A	c.(835-837)tcC>tcA	p.S279S	TBL2_ENST00000432538.1_Silent_p.S243S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	279							poly(A) RNA binding (GO:0044822)	p.S279S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACAGCCGCGGAGTGGCCCT	0.572																																							uc003tyh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(835-837)TCC>TCA		transducin (beta)-like 2							77.0	65.0	69.0					7																	72985560		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72985560G>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.837C>A	7.37:g.72985560G>T						TBL2_uc011kex.1_Silent_p.S243S|TBL2_uc010lbg.2_Silent_p.S184S|TBL2_uc003tyi.2_Silent_p.S114S|TBL2_uc011key.1_Silent_p.S150S|TBL2_uc010lbh.2_Silent_p.S184S	p.S279S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			6	971	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	279			WD 5.		Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.837C>A	CCDS5551.1																																																																																				0.572	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		6	66	1	0	0.000157383	0.00308	0.000216203	6	66				
CSMD3	114788	broad.mit.edu	37	8	113323388	113323388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:113323388G>T	ENST00000297405.5	-	50	7948	c.7704C>A	c.(7702-7704)taC>taA	p.Y2568*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y2498*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y2464*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y2528*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2568	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y2568*(1)|p.Y2528*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTACTACAGTAGAAAGCTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7702-7704)TAC>TAA		CUB and Sushi multiple domains 3 isoform 1							69.0	64.0	66.0					8																	113323388		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113323388G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7704C>A	8.37:g.113323388G>T	ENSP00000297405:p.Tyr2568*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1770*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y2528*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y2464*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.Y279*	p.Y2568*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	7863	-			2568			Extracellular (Potential).|Sushi 14.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.7704C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	49	15.131057	0.99823	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.76	3.97	0.46021	.	0.165509	0.41712	D	0.000826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0682	0.30674	0.2914:0.0:0.7086:0.0	.	.	.	.	X	2528;2568;1838;2464;2498	.	ENSP00000297405:Y2568X	Y	-	3	2	CSMD3	113392564	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.604000	0.36804	1.431000	0.47355	0.655000	0.94253	TAC		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	58	1	0	2.39556e-15	0.00278	3.8329e-15	25	58				
TAF2	6873	broad.mit.edu	37	8	120816177	120816177	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:120816177C>T	ENST00000378164.2	-	5	799	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	167					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E167E(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATACTTCCCTCTACACTGG	0.343																																							uc003you.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(499-501)GAG>GAA		TBP-associated factor 2							152.0	153.0	152.0					8																	120816177		2203	4300	6503	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120816177C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.501G>A	8.37:g.120816177C>T							p.E167E	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	771	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		167					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.501G>A	CCDS34937.1																																																																																				0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		11	235	0	0	0	0.001368	0	11	235				
MPDZ	8777	broad.mit.edu	37	9	13162689	13162689	+	Splice_Site	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:13162689C>A	ENST00000319217.7	-	23	3607		c.e23+1		MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTTCACTTACCTGCCAGTGT	0.378																																							uc010mia.1		NA																	2	Unknown(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.e22+1		multiple PDZ domain protein							79.0	75.0	76.0					9																	13162689		1836	4091	5927	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13162689C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3359+1G>T	9.37:g.13162689C>A						MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Splice_Site_p.R12_splice|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Splice_Site_p.R1120_splice|MPDZ_uc010mhz.2_Splice_Site_p.R1120_splice|MPDZ_uc011lmn.1_Splice_Site_p.R1120_splice|MPDZ_uc003zlb.3_Splice_Site_p.R1120_splice	p.R1120_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3416	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Splice_Site	SNP	ENST00000319217.7	37	c.3359_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.968017	0.74131	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPDZ	13152689	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	5.331000	0.65905	2.755000	0.94549	0.650000	0.86243	.		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Intron	15	53	1	0	4.14922e-12	0.004007	6.41243e-12	15	53				
VPS13A	23230	broad.mit.edu	37	9	79946930	79946930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:79946930G>A	ENST00000360280.3	+	46	6256	c.5996G>A	c.(5995-5997)aGa>aAa	p.R1999K	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1999K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1999K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1960K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1999					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R1999K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCCAGATAAGAAATCATTTT	0.323																																							uc004akr.2		NA																	3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(5995-5997)AGA>AAA		vacuolar protein sorting 13A isoform A							109.0	110.0	110.0					9																	79946930		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79946930G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5996G>A	9.37:g.79946930G>A	ENSP00000353422:p.Arg1999Lys					VPS13A_uc004akp.3_Missense_Mutation_p.R1999K|VPS13A_uc004akq.3_Missense_Mutation_p.R1999K|VPS13A_uc004aks.2_Missense_Mutation_p.R1960K|VPS13A_uc004akt.2_Missense_Mutation_p.R339K	p.R1999K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			46	6256	+			1999					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5996G>A	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.473|3.473	-0.107576|-0.107576	0.06924|0.06924	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.39787	.|1.23;1.06;1.15;1.23	5.65|5.65	1.69|1.69	0.24217|0.24217	.|.	.|0.271878	.|0.38058	.|N	.|0.001833	T|T	0.23370|0.23370	0.0565|0.0565	N|N	0.17800|0.17800	0.525|0.525	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.09022	.|0.001;0.0;0.0;0.002;0.001	.|B;B;B;B;B	.|0.12837	.|0.008;0.001;0.002;0.005;0.005	T|T	0.07654|0.07654	-1.0761|-1.0761	5|10	.|0.12103	.|T	.|0.63	.|.	9.8641|9.8641	0.41131|0.41131	0.3436:0.0:0.6564:0.0|0.3436:0.0:0.6564:0.0	.|.	.|251;1960;1999;1999;1999	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	K|K	252|1999;1960;1999;1999	.|ENSP00000365821:R1999K;ENSP00000365823:R1960K;ENSP00000353422:R1999K;ENSP00000349985:R1999K	.|ENSP00000349985:R1999K	E|R	+|+	1|2	0|0	VPS13A|VPS13A	79136750|79136750	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.768000|0.768000	0.43524|0.43524	1.311000|1.311000	0.33562|0.33562	0.109000|0.109000	0.17891|0.17891	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	189	0	0	0	0.000602	0	5	189				
TNC	3371	broad.mit.edu	37	9	117791710	117791710	+	Missense_Mutation	SNP	C	C	A	rs112853515		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117791710C>A	ENST00000350763.4	-	25	6509	c.6098G>T	c.(6097-6099)cGc>cTc	p.R2033L	TNC_ENST00000345230.3_Missense_Mutation_p.R1396L|TNC_ENST00000423613.2_Missense_Mutation_p.R1760L|TNC_ENST00000537320.1_Missense_Mutation_p.R1396L|TNC_ENST00000341037.4_Missense_Mutation_p.R1851L|TNC_ENST00000346706.3_Missense_Mutation_p.R1487L|TNC_ENST00000535648.1_Missense_Mutation_p.R1578L|TNC_ENST00000542877.1_Missense_Mutation_p.R1670L|TNC_ENST00000340094.3_Missense_Mutation_p.R1669L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R2033H(1)|p.R2033L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAAGTTCTCGCGTCCGTTTTT	0.458																																							uc004bjj.3		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(6097-6099)CGC>CTC		tenascin C precursor							176.0	157.0	164.0					9																	117791710		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791710C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6098G>T	9.37:g.117791710C>A	ENSP00000265131:p.Arg2033Leu					TNC_uc010mvf.2_Missense_Mutation_p.R1760L	p.R2033L	NM_002160	NP_002151	P24821	TENA_HUMAN			25	6460	-			2033			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6098G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.310	0.821979	0.16678	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.48	1.39	0.22231	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.340153	0.30401	N	0.009704	T	0.13372	0.0324	N	0.03608	-0.345	0.09310	N	1	D;P	0.56746	0.977;0.879	P;P	0.59948	0.866;0.617	T	0.10800	-1.0614	10	0.27785	T	0.31	.	2.8348	0.05510	0.1014:0.4419:0.1925:0.2642	.	1760;2033	E9PC84;P24821	.;TENA_HUMAN	L	1669;1578;1487;1396;2033;1851;1760;1396;1670	ENSP00000344400:R1669L;ENSP00000438152:R1578L;ENSP00000344555:R1487L;ENSP00000345861:R1396L;ENSP00000265131:R2033L;ENSP00000339553:R1851L;ENSP00000411406:R1760L;ENSP00000443478:R1396L;ENSP00000442242:R1670L	ENSP00000344400:R1669L	R	-	2	0	TNC	116831531	0.009000	0.17119	0.916000	0.36221	0.420000	0.31355	0.120000	0.15647	0.013000	0.14918	-0.797000	0.03246	CGC		0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		26	116	1	0	4.22769e-11	0.00632	6.4603e-11	26	116				
PSMD5	5711	broad.mit.edu	37	9	123593720	123593720	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:123593720T>C	ENST00000210313.3	-	4	524	c.450A>G	c.(448-450)tcA>tcG	p.S150S	PSMD5_ENST00000373904.5_Intron|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)		p.S150S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GTGATATTCTTGACAGGGATT	0.338																																							uc004bko.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)TCA>TCG		proteasome 26S non-ATPase subunit 5							124.0	117.0	119.0					9																	123593720		2203	4300	6503	SO:0001819	synonymous_variant	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123593720T>C	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.450A>G	9.37:g.123593720T>C						PSMD5_uc011lye.1_Intron	p.S150S	NM_005047	NP_005038	Q16401	PSMD5_HUMAN			4	469	-			150					B4DZM8|Q15045|Q4VXG8	Silent	SNP	ENST00000210313.3	37	c.450A>G	CCDS6824.1																																																																																				0.338	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		4	116	0	0	0	0.000602	0	4	116				
AIF1L	83543	broad.mit.edu	37	9	133987029	133987029	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:133987029G>A	ENST00000247291.3	+	3	227	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	AIF1L_ENST00000372302.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372298.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.E52K|AIF1L_ENST00000372300.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372309.3_Missense_Mutation_p.E73K	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.E47K(1)|p.E73K(1)		lung(2)	2						GAACCTTCCAGAAAAGCTCAC	0.557																																					Esophageal Squamous(95;611 1423 5044 34794 42333)	Esophageal Squamous(95;611 1423 5044 34794 42333)	uc004cab.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(139-141)GAA>AAA		ionized calcium binding adapter molecule 2							173.0	179.0	177.0					9																	133987029		2203	4300	6503	SO:0001583	missense	83543					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	g.chr9:133987029G>A	AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"""EF-hand domain containing"""	28904	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 58"""	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.139G>A	9.37:g.133987029G>A	ENSP00000247291:p.Glu47Lys					AIF1L_uc004cad.1_Missense_Mutation_p.E73K|AIF1L_uc004cae.1_Missense_Mutation_p.E47K|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Missense_Mutation_p.E52K	p.E47K	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN			3	244	+			47			EF-hand 1.		B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Missense_Mutation	SNP	ENST00000247291.3	37	c.139G>A	CCDS6939.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083398	0.55861	.	.	ENSG00000126878	ENST00000372309;ENST00000247291;ENST00000372302;ENST00000372300;ENST00000372298;ENST00000372312	T;T;T;T;T;T	0.57595	1.02;1.02;0.39;1.39;1.49;1.02	5.47	3.58	0.41010	EF-hand-like domain (1);	0.100712	0.64402	D	0.000003	T	0.41236	0.1150	L	0.48362	1.52	0.50313	D	0.999867	B;B;B;B	0.32526	0.287;0.208;0.374;0.03	B;B;B;B	0.33121	0.158;0.063;0.148;0.02	T	0.14755	-1.0461	10	0.27785	T	0.31	-0.0644	6.5987	0.22689	0.1563:0.149:0.6947:0.0	.	52;47;73;47	F5GYC9;Q9BQI0-4;Q9BQI0-2;Q9BQI0	.;.;.;AIF1L_HUMAN	K	73;47;47;47;47;52	ENSP00000361383:E73K;ENSP00000247291:E47K;ENSP00000361376:E47K;ENSP00000361374:E47K;ENSP00000361372:E47K;ENSP00000361386:E52K	ENSP00000247291:E47K	E	+	1	0	AIF1L	132976850	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	4.994000	0.63901	0.645000	0.30675	0.549000	0.68633	GAA		0.557	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054703.2	NM_031426		8	284	0	0	0	0.00308	0	8	284				
KLHL4	56062	broad.mit.edu	37	X	86890732	86890732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:86890732C>T	ENST00000373119.4	+	9	2027	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P628S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	628						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P628S(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCATGATGCCCCTGCTTCCAA	0.408																																							uc004efb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1882-1884)CCT>TCT		kelch-like 4 isoform 1							100.0	87.0	92.0					X																	86890732		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890732C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1882C>T	X.37:g.86890732C>T	ENSP00000362211:p.Pro628Ser					KLHL4_uc004efa.2_Missense_Mutation_p.P628S	p.P628S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	2064	+			628			Kelch 5.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1882C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764888	0.49574	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74526	-0.1;-0.85	4.23	4.23	0.50019	Galactose oxidase, beta-propeller (1);	0.128911	0.52532	D	0.000061	T	0.77605	0.4155	N	0.21508	0.67	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.969	T	0.80453	-0.1376	10	0.56958	D	0.05	.	15.0663	0.71999	0.0:1.0:0.0:0.0	.	628;628	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	S	628	ENSP00000362211:P628S;ENSP00000362206:P628S	ENSP00000362206:P628S	P	+	1	0	KLHL4	86777388	1.000000	0.71417	0.975000	0.42487	0.039000	0.13416	7.069000	0.76755	2.086000	0.62901	0.513000	0.50165	CCT		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			30	71	0	0	0	0.003271	0	30	71				
BHLHB9	80823	broad.mit.edu	37	X	102005352	102005352	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:102005352G>T	ENST00000372735.1	+	4	2014	c.1429G>T	c.(1429-1431)Gca>Tca	p.A477S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A477S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A477S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	477					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A477S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATCCAACTGCAGCCAGAGA	0.368																																							uc010nog.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1429-1431)GCA>TCA		basic helix-loop-helix domain containing, class							109.0	109.0	109.0					X																	102005352		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005352G>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1429G>T	X.37:g.102005352G>T	ENSP00000361820:p.Ala477Ser					BHLHB9_uc011mrq.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrr.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrs.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrt.1_Missense_Mutation_p.A477S|BHLHB9_uc004ejo.2_Missense_Mutation_p.A477S|BHLHB9_uc011mru.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrv.1_Missense_Mutation_p.A477S	p.A477S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	2000	+			477					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1429G>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220435	0.22457	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.34	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.45126	D	0.000388	T	0.31575	0.0801	N	0.22421	0.69	0.24908	N	0.992062	D	0.57257	0.979	P	0.60473	0.875	T	0.04509	-1.0946	9	.	.	.	-26.6549	7.1226	0.25453	0.1224:0.0:0.8776:0.0	.	477	Q6PI77	BHLH9_HUMAN	S	477	ENSP00000403226:A477S;ENSP00000354675:A477S;ENSP00000405893:A477S;ENSP00000391722:A477S;ENSP00000361820:A477S	.	A	+	1	0	BHLHB9	101892008	0.999000	0.42202	0.832000	0.32986	0.989000	0.77384	3.525000	0.53502	1.165000	0.42670	0.422000	0.28245	GCA		0.368	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		21	268	1	0	4.35082e-09	0.001523	6.57457e-09	21	268				
BCORL1	63035	broad.mit.edu	37	X	129171500	129171500	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:129171500C>T	ENST00000218147.7	+	9	4661	c.4464C>T	c.(4462-4464)gaC>gaT	p.D1488D	BCORL1_ENST00000303743.5_Silent_p.D1562D|BCORL1_ENST00000540052.1_Silent_p.D1488D|BCORL1_ENST00000359304.2_Silent_p.D1358D			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1488					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1488D(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTGCGCAGGACGGCACGAGGC	0.647													C|||	1	0.000264901	0.0	0.0	3775	,	,		5965	0.0		0.001	False		,,,				2504	0.0						uc004evb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(4462-4464)GAC>GAT		BCL6 co-repressor-like 1							91.0	67.0	75.0					X																	129171500		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171500C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4464C>T	X.37:g.129171500C>T						BCORL1_uc004evc.1_Silent_p.D324D	p.D1488D	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			9	4578	+			1488			ANK 2.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4464C>T	CCDS14616.1																																																																																				0.647	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		6	94	0	0	0	0.001168	0	6	94				
SAGE1	55511	broad.mit.edu	37	X	134993792	134993792	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:134993792C>T	ENST00000370709.3	+	17	2201	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	SAGE1_ENST00000535938.1_Missense_Mutation_p.P734L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P734L|SAGE1_ENST00000537770.1_Missense_Mutation_p.P358L			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734						nucleus (GO:0005634)		p.P734L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418																																							uc004ezh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2200-2202)CCT>CTT		sarcoma antigen 1							126.0	122.0	123.0					X																	134993792		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993792C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2201C>T	X.37:g.134993792C>T	ENSP00000359743:p.Pro734Leu					SAGE1_uc010nry.1_Missense_Mutation_p.P703L|SAGE1_uc011mvv.1_Missense_Mutation_p.P358L	p.P734L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2368	+	Acute lymphoblastic leukemia(192;0.000127)		734					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2201C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	7.898	0.733837	0.15574	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32753	1.44;1.44;1.48;1.44	2.25	1.13	0.20643	.	0.705406	0.13976	N	0.349807	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	1	B;B	0.26400	0.009;0.148	B;B	0.23716	0.039;0.048	T	0.14364	-1.0475	10	0.41790	T	0.15	.	4.6819	0.12739	0.3692:0.6308:0.0:0.0	.	358;734	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	L	734;734;358;734	ENSP00000323191:P734L;ENSP00000445959:P734L;ENSP00000438276:P358L;ENSP00000359743:P734L	ENSP00000323191:P734L	P	+	2	0	SAGE1	134821458	0.000000	0.05858	0.004000	0.12327	0.065000	0.16274	0.266000	0.18534	1.055000	0.40461	0.179000	0.17066	CCT		0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		65	214	0	0	0	0.00361	0	65	214				
PNMA3	29944	broad.mit.edu	37	X	152226180	152226180	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:152226180C>T	ENST00000370264.4	+	1	794	c.768C>T	c.(766-768)gcC>gcT	p.A256A	PNMA3_ENST00000370265.4_Silent_p.A256A|PNMA3_ENST00000447306.1_Silent_p.A256A			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	256					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A256A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgtgtaaagcctatcaggagg	0.488																																							uc004fhc.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|large_intestine(1)	3						c.(766-768)GCC>GCT		paraneoplastic cancer-testis-brain antigen							161.0	155.0	157.0					X																	152226180		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226180C>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.768C>T	X.37:g.152226180C>T						PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.A256A	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	1104	+	Acute lymphoblastic leukemia(192;6.56e-05)		256					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.768C>T	CCDS35435.2																																																																																				0.488	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		8	231	0	0	0	0.00308	0	8	231				
BCL9L	283149	broad.mit.edu	37	11	118770846	118770847	+	Frame_Shift_Ins	INS	-	-	C	rs139315833	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:118770846_118770847insC	ENST00000334801.3	-	7	4149_4150	c.3185_3186insG	c.(3184-3186)agcfs	p.S1062fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1062	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGAGGCCGCTGGGAGGGTT	0.629																																							uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(3184-3186)AGCfs		B-cell CLL/lymphoma 9-like																																				SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770846_118770847insC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3186dupG	11.37:g.118770847_118770847dupC	ENSP00000335320:p.Ser1062fs					BCL9L_uc009zal.2_Frame_Shift_Ins_p.S1057fs	p.S1062fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4150_4151	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1062			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	c.3185_3186insG	CCDS8403.1																																																																																				0.629	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		24	92	NA	NA	NA	NA	NA	24	92	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49030371	49030372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:49030371_49030372insT	ENST00000267163.4	+	19	1984_1985	c.1846_1847insT	c.(1846-1848)aaafs	p.K616fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	616	Pocket; binds T and E1A.|Spacer.		K -> E (in RB). {ECO:0000269|PubMed:11524739}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCAAAGAAAAAAGGTTCAACT	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(10)	p.?(6)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM012654	RB1	M		c.(1846-1848)AAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030371_49030372insT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	Exception_encountered	13.37:g.49030371_49030372insT	ENSP00000267163:p.Lys616fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.K616fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2012_2013	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	616		K -> E (in RB).	Pocket; binds T and E1A.|Spacer.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.1846_1847insT	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			22	44	NA	NA	NA	NA	NA	22	44	---	---	---	---
HAUS3	79441	broad.mit.edu	37	4	2242244	2242246	+	In_Frame_Del	DEL	CTT	CTT	-	rs371675587		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:2242244_2242246delCTT	ENST00000243706.4	-	2	657_659	c.428_430delAAG	c.(427-432)gaagcc>gcc	p.E143del	HAUS3_ENST00000443786.2_In_Frame_Del_p.E143del|HAUS3_ENST00000506763.1_In_Frame_Del_p.E143del|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	143					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTTTTAGTGGCTTCTTCTTCTTT	0.35																																							uc003ges.1		NA																	0				large_intestine(2)|breast(2)	4						c.(427-432)GAAGCC>GCC		HAUS augmin-like complex, subunit 3																																				SO:0001651	inframe_deletion	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242244_2242246delCTT	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.428_430delAAG	4.37:g.2242253_2242255delCTT	ENSP00000243706:p.Glu143del					POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_In_Frame_Del_p.E143del|HAUS3_uc003get.1_In_Frame_Del_p.E143del	p.E143del	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			2	658_660	-			143			Potential.		B4DF64|O43606|Q8TAZ5|Q9BTJ9	In_Frame_Del	DEL	ENST00000243706.4	37	c.428_430delAAG	CCDS33941.1																																																																																				0.350	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		11	175	NA	NA	NA	NA	NA	11	175	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478																																							uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5731-5733)CGGfs		tenascin C precursor							81.0	83.0	82.0					9																	117797539		2203	4300	6503	SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797539delG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5731delC	9.37:g.117797539delG	ENSP00000265131:p.Arg1911fs					TNC_uc010mvf.2_Frame_Shift_Del_p.R1638fs	p.R1911fs	NM_002160	NP_002151	P24821	TENA_HUMAN			22	6093	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	c.5731delC	CCDS6811.1																																																																																				0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	164	NA	NA	NA	NA	NA	7	164	---	---	---	---
