#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC45A4	57210	broad.mit.edu	37	8	142231748	142231748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	ENST00000024061.3	-	2	512	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R69W|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(205-207)Cgg>Tgg		solute carrier family 45, member 4							73.0	79.0	77.0					8																	142231748		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142231748G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.205C>T	8.37:g.142231748G>A	ENSP00000024061:p.Arg69Trp					SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000024061.3_Missense_Mutation_p.R69W	p.R69W			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	508	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		120					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.205C>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483830	0.84854	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	M	0.92367	3.3	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.99232	1.0882	10	0.87932	D	0	-44.7567	19.3718	0.94490	0.0:0.0:1.0:0.0	.	120;69;69	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	W	69;120;62;69;51	ENSP00000429059:R69W;ENSP00000428137:R120W;ENSP00000400799:R62W;ENSP00000024061:R69W;ENSP00000429974:R51W	ENSP00000024061:R69W	R	-	1	2	SLC45A4	142300930	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.998000	0.63927	2.585000	0.87301	0.407000	0.27541	CGG		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		6	75	0	0	0	1	0	6	75				
APOA1BP	128240	broad.mit.edu	37	1	156563279	156563279	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:156563279C>A	ENST00000368235.3	+	5	639	c.596C>A	c.(595-597)cCg>cAg	p.P199Q	APOA1BP_ENST00000368233.3_Missense_Mutation_p.P199Q|GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.T180T	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCGGGAACCGTTCCACAGC	0.562																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(595-597)cCg>cAg		apolipoprotein A-I binding protein							161.0	130.0	140.0					1																	156563279		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563279C>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.596C>A	1.37:g.156563279C>A	ENSP00000357218:p.Pro199Gln					APOA1BP_ENST00000368234.3_Silent_p.T180T|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P199Q	p.P199Q	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			5	639	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		199			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.596C>A	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744006	0.89663	.	.	ENSG00000163382	ENST00000446584;ENST00000368235;ENST00000368233	T;T	0.42900	0.96;0.96	5.55	5.55	0.83447	YjeF-related protein, N-terminal (5);	0.108963	0.64402	D	0.000005	T	0.68128	0.2967	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.976	T	0.74922	-0.3499	10	0.54805	T	0.06	.	16.9987	0.86376	0.0:1.0:0.0:0.0	.	199;199	Q8NCW5;Q5T3I4	AIBP_HUMAN;.	Q	217;199;199	ENSP00000357218:P199Q;ENSP00000357216:P199Q	ENSP00000357216:P199Q	P	+	2	0	APOA1BP	154829903	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.776000	0.85560	2.594000	0.87642	0.655000	0.94253	CCG		0.562	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		3	88	1	0	1	1	1	3	88				
BCL9L	283149	broad.mit.edu	37	11	118772576	118772576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	ENST00000334801.3	-	6	2840	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	626					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)		ATGGCATTCATGGGCACCTCC	0.622																																						ENST00000334801.3																			0				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						c.(1876-1878)Atg>Gtg		B-cell CLL/lymphoma 9-like							44.0	44.0	44.0					11																	118772576		2200	4295	6495	SO:0001583	missense	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.chr11:118772576T>C	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.1876A>G	11.37:g.118772576T>C	ENSP00000335320:p.Met626Val					BCL9L_ENST00000526143.1_5'UTR	p.M626V	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2840	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	626					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1876A>G	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	8.455	0.854003	0.17106	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.63580	-0.05	4.73	4.73	0.59995	.	0.000000	0.53938	D	0.000060	T	0.43100	0.1232	N	0.16478	0.41	0.34847	D	0.741303	B;B	0.16396	0.017;0.01	B;B	0.12837	0.008;0.003	T	0.51092	-0.8749	10	0.38643	T	0.18	-11.2567	8.7234	0.34454	0.0:0.0865:0.0:0.9135	.	621;626	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	626;589;626;626	ENSP00000335320:M626V	ENSP00000335320:M626V	M	-	1	0	BCL9L	118277786	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.089000	0.50183	1.994000	0.58287	0.260000	0.18958	ATG		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		11	23	0	0	0	1	0	11	23				
CXorf67	340602	broad.mit.edu	37	X	51150493	51150493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:51150493G>A	ENST00000342995.2	+	1	727	c.625G>A	c.(625-627)Gca>Aca	p.A209T				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	209										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCATCTGAGGCAAGGCCTGC	0.647																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(625-627)Gca>Aca		chromosome X open reading frame 67							41.0	22.0	29.0					X																	51150493		2200	4299	6499	SO:0001583	missense	340602							g.chrX:51150493G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.625G>A	X.37:g.51150493G>A	ENSP00000342680:p.Ala209Thr						p.A209T							1	727	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	G	0.644	-0.812056	0.02798	.	.	ENSG00000187690	ENST00000342995	T	0.52295	0.67	1.77	-3.55	0.04639	.	2.037700	0.02959	N	0.142901	T	0.32496	0.0831	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10405	-1.0631	9	0.36615	T	0.2	-0.0197	2.2772	0.04105	0.1315:0.1627:0.5007:0.2051	.	209	Q86X51	CX067_HUMAN	T	209	ENSP00000342680:A209T	ENSP00000342680:A209T	A	+	1	0	CXorf67	51167233	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	1.196000	0.32198	-3.927000	0.00090	-2.190000	0.00312	GCA		0.647	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		5	22	0	0	0	1	0	5	22				
ALDH4A1	8659	broad.mit.edu	37	1	19209803	19209803	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	ENST00000375341.3	-	6	830	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_ENST00000538839.1_Silent_p.S191S|ALDH4A1_ENST00000290597.5_Silent_p.S191S|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.S131S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	191				PPS -> LPY (in Ref. 10; AA sequence). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTTGGTGCTCGGGGGCA	0.647																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(571-573)agC>agT		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						47.0	41.0	43.0					1																	19209803		2203	4300	6503	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209803G>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.573C>T	1.37:g.19209803G>A						ALDH4A1_ENST00000538839.1_Silent_p.S191S|ALDH4A1_ENST00000538309.1_Silent_p.S131S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S191S	p.S191S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	830	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	191	PPS -> LPY (in Ref. 9; AA sequence).				A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.573C>T	CCDS188.1																																																																																				0.647	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			18	71	0	0	0	1	0	18	71				
ZFHX3	463	broad.mit.edu	37	16	72993684	72993684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	ENST00000268489.5	-	2	1033	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	121					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(361-363)Gac>Tac		zinc finger homeobox 3							31.0	32.0	32.0					16																	72993684		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993684C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.361G>T	16.37:g.72993684C>A	ENSP00000268489:p.Asp121Tyr					ZFHX3_ENST00000397992.5_Intron	p.D121Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1033	-		Ovarian(137;0.13)	121					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.361G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462181	0.43736	.	.	ENSG00000140836	ENST00000268489	T	0.73575	-0.76	5.11	5.11	0.69529	.	0.243373	0.28021	N	0.016919	T	0.73869	0.3642	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.78760	-0.2078	10	0.45353	T	0.12	.	18.5506	0.91063	0.0:1.0:0.0:0.0	.	121	Q15911	ZFHX3_HUMAN	Y	121	ENSP00000268489:D121Y	ENSP00000268489:D121Y	D	-	1	0	ZFHX3	71551185	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	6.028000	0.70889	2.379000	0.81126	0.462000	0.41574	GAC		0.687	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		18	93	1	0	7.41877e-09	1	8.29897e-09	18	93				
PBRM1	55193	broad.mit.edu	37	3	52597305	52597305	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:52597305G>A	ENST00000296302.7	-	24	4081	c.4080C>T	c.(4078-4080)ccC>ccT	p.P1360P	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Silent_p.P1375P|PBRM1_ENST00000409057.1_Silent_p.P1360P|PBRM1_ENST00000410007.1_Silent_p.P1335P|PBRM1_ENST00000356770.4_Silent_p.P1328P|PBRM1_ENST00000337303.4_Silent_p.P1360P|PBRM1_ENST00000409114.3_Silent_p.P1375P|PBRM1_ENST00000394830.3_Intron|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1360					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACCTGTGGGGGTGTGTAGG	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3982-3984)ccC>ccT		polybromo 1							70.0	65.0	67.0					3																	52597305		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597305G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4080C>T	3.37:g.52597305G>A						PBRM1_ENST00000410007.1_Silent_p.P1335P|PBRM1_ENST00000409767.1_Silent_p.P1375P|PBRM1_ENST00000409114.3_Silent_p.P1375P|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Silent_p.P1360P|PBRM1_ENST00000296302.7_Silent_p.P1360P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Silent_p.P1360P	p.P1328P			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3986	-			1360					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.3984C>T																																																																																					0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		4	64	0	0	0	1	0	4	64				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	152	0	0	0	1	0	5	152				
BRINP3	339479	broad.mit.edu	37	1	190067492	190067492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:190067492C>T	ENST00000367462.3	-	8	2188	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	BRINP3_ENST00000534846.1_Missense_Mutation_p.D551N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	653					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CGGGAAGGGTCAATAAACTCC	0.428																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1957-1959)Gac>Aac									125.0	131.0	129.0					1																	190067492		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067492C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1957G>A	1.37:g.190067492C>T	ENSP00000356432:p.Asp653Asn					FAM5C_ENST00000534846.1_Missense_Mutation_p.D551N|FAM5C_ENST00000484105.1_5'UTR	p.D653N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2188	-	Prostate(682;0.198)		653					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1957G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430754	0.83776	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25414	2.06;1.8	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.878	T	0.50898	-0.8773	10	0.87932	D	0	.	17.2293	0.86980	0.0:1.0:0.0:0.0	.	551;653	B7Z260;Q76B58	.;FAM5C_HUMAN	N	653;551	ENSP00000356432:D653N;ENSP00000438022:D551N	ENSP00000356432:D653N	D	-	1	0	FAM5C	188334115	1.000000	0.71417	0.995000	0.50966	0.868000	0.49771	7.734000	0.84928	2.669000	0.90835	0.650000	0.86243	GAC		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		35	57	0	0	0	1	0	35	57				
HLTF	6596	broad.mit.edu	37	3	148792096	148792096	+	Silent	SNP	A	A	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	ENST00000310053.5	-	4	628	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_ENST00000494055.1_Silent_p.P145P|HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000392912.2_Silent_p.P145P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	145					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(433-435)ccT>ccG		helicase-like transcription factor							96.0	93.0	94.0					3																	148792096		2203	4299	6502	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148792096A>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.435T>G	3.37:g.148792096A>C						HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000494055.1_Silent_p.P145P|HLTF_ENST00000392912.2_Silent_p.P145P	p.P145P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		4	628	-			145					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.435T>G	CCDS33875.1																																																																																				0.363	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			31	21	0	0	0	1	0	31	21				
COL15A1	1306	broad.mit.edu	37	9	101778341	101778341	+	Silent	SNP	T	T	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:101778341T>C	ENST00000375001.3	+	11	2010	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	529	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGCAGCCCTCCCCCTGATG	0.572																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1585-1587)ccT>ccC		collagen, type XV, alpha 1							52.0	51.0	51.0					9																	101778341		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101778341T>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1587T>C	9.37:g.101778341T>C							p.P529P	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			11	2010	+		Acute lymphoblastic leukemia(62;0.0562)	529			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1587T>C	CCDS35081.1																																																																																				0.572	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		3	60	0	0	0	1	0	3	60				
SLITRK3	22865	broad.mit.edu	37	3	164906713	164906713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	ENST00000475390.1	-	2	2349	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	636					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1906-1908)Cca>Aca		SLIT and NTRK-like family, member 3							37.0	40.0	39.0					3																	164906713		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906713G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1906C>A	3.37:g.164906713G>T	ENSP00000420091:p.Pro636Thr	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T	p.P636T			O94933	SLIK3_HUMAN			2	2349	-			636					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1906C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261293	0.10239	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53640	0.61;0.61	5.02	4.12	0.48240	.	0.211139	0.24005	N	0.042424	T	0.29716	0.0742	N	0.22421	0.69	0.45852	D	0.998716	B	0.14438	0.01	B	0.08055	0.003	T	0.11966	-1.0566	10	0.05351	T	0.99	-5.3007	13.8577	0.63540	0.0:0.0:0.8459:0.1541	.	636	O94933	SLIK3_HUMAN	T	636	ENSP00000420091:P636T;ENSP00000241274:P636T	ENSP00000241274:P636T	P	-	1	0	SLITRK3	166389407	0.870000	0.30015	0.082000	0.20525	0.066000	0.16364	1.307000	0.33516	1.407000	0.46875	0.655000	0.94253	CCA		0.527	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		11	31	1	0	3.07112e-06	1	3.32285e-06	11	31				
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	rs201126715		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(841-843)Gtg>Atg		leucine zipper protein 4							85.0	76.0	79.0					X																	114541268		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541268G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.841G>A	X.37:g.114541268G>A	ENSP00000360988:p.Val281Met					LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	p.V281M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	848	+			281					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.841G>A	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	a	5.700	0.313756	0.10789	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.58	-7.16	0.01516	.	0.642575	0.13045	N	0.418237	T	0.52581	0.1743	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	10	0.41790	T	0.15	.	11.3354	0.49500	0.28:0.1155:0.6045:0.0	.	199;281	B3KSD6;Q9P127	.;LUZP4_HUMAN	M	199;281	ENSP00000411212:V199M;ENSP00000360988:V281M	ENSP00000360988:V281M	V	+	1	0	LUZP4	114447524	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.794000	0.04584	-2.420000	0.00564	-0.976000	0.02587	GTG		0.428	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		21	105	0	0	0	1	0	21	105				
ALDH4A1	8659	broad.mit.edu	37	1	19209838	19209838	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	ENST00000375341.3	-	6	795	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	180					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTCCAGCTCCACCGCA	0.642																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(538-540)Ctg>Gtg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						54.0	45.0	48.0					1																	19209838		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209838G>C	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.538C>G	1.37:g.19209838G>C	ENSP00000364490:p.Leu180Val					ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V	p.L180V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	795	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	180					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.538C>G	CCDS188.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576842	0.45902	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.31	4.39	0.52855	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.146541	0.47093	D	0.000249	T	0.77738	0.4175	M	0.76328	2.33	0.80722	D	1	P	0.36354	0.549	B	0.39119	0.291	T	0.76361	-0.2987	10	0.37606	T	0.19	-22.2986	12.5994	0.56489	0.0813:0.0:0.9187:0.0	.	180	P30038	AL4A1_HUMAN	V	180;180;180;120;164;78;120;164	ENSP00000290597:L180V;ENSP00000364490:L180V;ENSP00000446071:L180V;ENSP00000442988:L120V;ENSP00000393209:L164V	ENSP00000290597:L180V	L	-	1	2	ALDH4A1	19082425	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.272000	0.78516	1.236000	0.43740	0.491000	0.48974	CTG		0.642	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			22	58	0	0	0	1	0	22	58				
EPHA10	284656	broad.mit.edu	37	1	38227461	38227461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:38227461C>T	ENST00000373048.4	-	3	465	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	EPHA10_ENST00000427468.2_Missense_Mutation_p.A156T|EPHA10_ENST00000319637.6_Missense_Mutation_p.A156T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	156	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGTCCGCCGCGATCGTGTCG	0.657																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(466-468)Gcg>Acg		EPH receptor A10							27.0	33.0	31.0					1																	38227461		2197	4296	6493	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227461C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.466G>A	1.37:g.38227461C>T	ENSP00000362139:p.Ala156Thr					EPHA10_ENST00000427468.2_Missense_Mutation_p.A156T|EPHA10_ENST00000319637.6_Missense_Mutation_p.A156T	p.A156T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	465	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	156					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.466G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462820	0.96257	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.07800	3.16;3.16;3.16	4.75	4.75	0.60458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.41500	D	0.000875	T	0.36248	0.0960	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.39165	-0.9627	10	0.87932	D	0	.	17.2504	0.87041	0.0:1.0:0.0:0.0	.	156;156	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	T	156	ENSP00000397746:A156T;ENSP00000362139:A156T;ENSP00000316395:A156T	ENSP00000316395:A156T	A	-	1	0	EPHA10	38000048	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	7.540000	0.82074	2.598000	0.87819	0.643000	0.83706	GCG		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		4	40	0	0	0	1	0	4	40				
DNAH7	56171	broad.mit.edu	37	2	196877622	196877622	+	Missense_Mutation	SNP	C	C	T	rs372305897		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	ENST00000312428.6	-	10	978	c.878G>A	c.(877-879)cGt>cAt	p.R293H	DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTAAACGTAATTTTCT	0.279																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(877-879)cGt>cAt		dynein, axonemal, heavy chain 7		C	HIS/ARG	1,3595		0,1,1797	60.0	58.0	58.0		878	5.2	1.0	2		58	0,8130		0,0,4065	no	missense	DNAH7	NM_018897.2	29	0,1,5862	TT,TC,CC		0.0,0.0278,0.0085	probably-damaging	293/4025	196877622	1,11725	1798	4065	5863	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196877622C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.878G>A	2.37:g.196877622C>T	ENSP00000311273:p.Arg293His					DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H	p.R293H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			10	978	-			293			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.878G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194425	0.78902	2.78E-4	0.0	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.24908	1.83;2.43	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000003	T	0.49389	0.1554	M	0.83603	2.65	0.49299	D	0.99977	D	0.89917	1.0	D	0.63192	0.912	T	0.48019	-0.9071	10	0.17369	T	0.5	.	15.7046	0.77569	0.0:1.0:0.0:0.0	.	293	Q8WXX0	DYH7_HUMAN	H	293	ENSP00000311273:R293H;ENSP00000386260:R293H	ENSP00000311273:R293H	R	-	2	0	DNAH7	196585867	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.647000	0.54403	2.437000	0.82529	0.591000	0.81541	CGT		0.279	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	23	0	0	0	1	0	16	23				
EPPK1	83481	broad.mit.edu	37	8	144945911	144945911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	ENST00000525985.1	-	2	1582	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q				P58107	EPIPL_HUMAN	epiplakin 1	504						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGGCCCCGGAACTTCCC	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1510-1512)cGg>cAg		epiplakin 1																																				SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945911C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1511G>A	8.37:g.144945911C>T	ENSP00000436337:p.Arg504Gln						p.R504Q			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1582	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		504					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497491	0.04291	.	.	ENSG00000227184	ENST00000525985	T	0.64438	-0.1	5.12	-0.124	0.13523	.	.	.	.	.	T	0.28234	0.0697	N	0.01640	-0.785	0.20873	N	0.999838	B	0.14012	0.009	B	0.01281	0.0	T	0.23511	-1.0186	9	0.09590	T	0.72	.	9.1438	0.36919	0.0:0.265:0.0:0.735	.	504	E9PPU0	.	Q	504	ENSP00000436337:R504Q	ENSP00000436337:R504Q	R	-	2	0	EPPK1	145017899	0.507000	0.26146	0.266000	0.24541	0.003000	0.03518	0.069000	0.14552	-0.135000	0.11495	-1.119000	0.02030	CGG		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	15	0	0	0	1	0	8	15				
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	T	A	rs571846793		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:21961062T>A	ENST00000405508.1	+	8	1563	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	429	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.0					ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)gcT>gcA		TOX high mobility group box family member 4							63.0	73.0	70.0					14																	21961062		2201	4298	6499	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961062T>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1287T>A	14.37:g.21961062T>A						TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A	p.A429A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1563	+	all_cancers(95;0.000465)		429			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.1287T>A	CCDS32043.1																																																																																				0.582	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		3	96	0	0	0	1	0	3	96				
ZNF557	79230	broad.mit.edu	37	19	7083553	7083553	+	Missense_Mutation	SNP	C	C	G	rs189726633	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:7083553C>G	ENST00000439035.2	+	8	1310	c.1070C>G	c.(1069-1071)aCa>aGa	p.T357R	ZNF557_ENST00000414706.1_Missense_Mutation_p.T364R|ZNF557_ENST00000252840.6_Missense_Mutation_p.T364R			Q8N988	ZN557_HUMAN	zinc finger protein 557	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TTTTCTCTTACAATTCACAGG	0.383																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1090-1092)aCa>aGa		zinc finger protein 557							69.0	76.0	73.0					19																	7083553		2147	4269	6416	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083553C>G	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1070C>G	19.37:g.7083553C>G	ENSP00000398965:p.Thr357Arg					ZNF557_ENST00000439035.2_Missense_Mutation_p.T357R|ZNF557_ENST00000252840.6_Missense_Mutation_p.T364R	p.T364R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1564	+			357					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.1091C>G	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226637	0.22542	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.07908	3.15;3.15;3.15	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.02275	-0.615	0.09310	N	1	D;P	0.53885	0.963;0.954	B;B	0.43225	0.412;0.288	T	0.28396	-1.0045	9	0.32370	T	0.25	.	1.8401	0.03148	0.3273:0.4463:0.0:0.2264	.	357;364	Q8N988;Q8N988-2	ZN557_HUMAN;.	R	364;364;357	ENSP00000252840:T364R;ENSP00000404065:T364R;ENSP00000398965:T357R	ENSP00000252840:T364R	T	+	2	0	ZNF557	7034553	0.000000	0.05858	0.014000	0.15608	0.005000	0.04900	-1.103000	0.03329	0.132000	0.18615	0.313000	0.20887	ACA		0.383	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		4	47	0	0	0	1	0	4	47				
EGFR	1956	broad.mit.edu	37	7	55211008	55211008	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	ENST00000275493.2	+	3	428	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V|EGFR_ENST00000442591.1_Missense_Mutation_p.E84V|EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	84			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACCATCCAGGAGGTGGCTGGT	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(250-252)gAg>gTg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						97.0	95.0	95.0					7																	55211008		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211008A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.251A>T	7.37:g.55211008A>T	ENSP00000275493:p.Glu84Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.E84V|EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V|EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V	p.E84V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	428	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		84					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.251A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958846	0.74016	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D;D	0.84944	-1.6;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.31	4.12	0.48240	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91400	0.5142	10	0.87932	D	0	.	11.4191	0.49971	0.8485:0.1515:0.0:0.0	.	84;84;84;84;84	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	84;84;84;84;84;84;31;31	ENSP00000415559:E84V;ENSP00000342376:E84V;ENSP00000345973:E84V;ENSP00000413843:E84V;ENSP00000275493:E84V;ENSP00000410031:E84V;ENSP00000413354:E31V;ENSP00000395243:E31V	ENSP00000275493:E84V	E	+	2	0	EGFR	55178502	1.000000	0.71417	0.797000	0.32132	0.788000	0.44548	9.261000	0.95576	0.930000	0.37217	0.533000	0.62120	GAG		0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		23	65	0	0	0	1	0	23	65				
COPS2	9318	broad.mit.edu	37	15	49447771	49447771	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	ENST00000388901.5	-	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	COPS2_ENST00000542928.1_Missense_Mutation_p.S2C|GALK2_ENST00000327171.3_5'Flank|COPS2_ENST00000299259.6_Missense_Mutation_p.S2C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	2					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(4-6)tCt>tGt		COP9 signalosome subunit 2							127.0	118.0	121.0					15																	49447771		2196	4295	6491	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49447771G>C	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.5C>G	15.37:g.49447771G>C	ENSP00000373553:p.Ser2Cys					COPS2_ENST00000299259.6_Missense_Mutation_p.S2C|COPS2_ENST00000542928.1_Missense_Mutation_p.S2C	p.S2C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	1	78	-		all_lung(180;0.0428)	2					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.5C>G	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867087	0.72065	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.87827	2.91	0.30363	N	0.783636	P;P;P	0.46578	0.88;0.88;0.88	P;P;P	0.52481	0.7;0.7;0.7	T	0.75714	-0.3221	9	0.87932	D	0	-5.0116	18.553	0.91072	0.0:0.0:1.0:0.0	.	2;3;2	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	C	2	.	ENSP00000299259:S2C	S	-	2	0	COPS2	47235063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.603000	0.88011	0.655000	0.94253	TCT		0.557	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		39	40	0	0	0	1	0	39	40				
PGM3	5238	broad.mit.edu	37	6	83884095	83884095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:83884095G>T	ENST00000283977.4	-	9	1123	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K|PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K|PGM3_ENST00000513973.1_Missense_Mutation_p.Q414K					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTCTGACCTGGTTAAACAAG	0.383																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1240-1242)Cag>Aag		phosphoglucomutase 3							145.0	134.0	138.0					6																	83884095		2202	4297	6499	SO:0001583	missense	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83884095G>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.997C>A	6.37:g.83884095G>T	ENSP00000283977:p.Gln333Lys					PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K|PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K|PGM3_ENST00000283977.4_Missense_Mutation_p.Q333K	p.Q414K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	10	1356	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	414						Missense_Mutation	SNP	ENST00000283977.4	37	c.1240C>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.213321	0.79352	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000509219	T;T;T;T;T	0.51071	0.74;0.73;0.76;0.72;0.77	6.03	6.03	0.97812	.	0.050142	0.85682	D	0.000000	T	0.58047	0.2095	M	0.91140	3.18	0.80722	D	1	P;P;P	0.50943	0.805;0.917;0.94	B;P;B	0.45343	0.14;0.477;0.297	T	0.67768	-0.5585	10	0.49607	T	0.09	-41.9359	20.5666	0.99351	0.0:0.0:1.0:0.0	.	442;442;414	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	K	414;414;333;442;45	ENSP00000424874:Q414K;ENSP00000421565:Q414K;ENSP00000283977:Q333K;ENSP00000425809:Q442K;ENSP00000423389:Q45K	ENSP00000283977:Q333K	Q	-	1	0	PGM3	83940814	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.620000	0.83070	2.854000	0.98071	0.655000	0.94253	CAG		0.383	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		3	7	1	0	1	1	1	3	7				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	34	0	0	0	1	0	4	34				
ATG16L2	89849	broad.mit.edu	37	11	72528829	72528829	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	ENST00000321297.5	+	3	385	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	83					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(247-249)Gtc>Ctc		autophagy related 16-like 2 (S. cerevisiae)							90.0	73.0	79.0					11																	72528829		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528829G>C	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.247G>C	11.37:g.72528829G>C	ENSP00000326340:p.Val83Leu					ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L	p.V83L	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	385	+			83					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.247G>C	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.005|3.005	-0.205145|-0.205145	0.06180|0.06180	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540567|ENST00000321297;ENST00000534905	.|T	.|0.52754	.|0.65	3.56|3.56	1.59|1.59	0.23543|0.23543	.|Autophagy-related protein 16 (1);	.|.	.|.	.|.	.|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.26445	.|0.068;0.106;0.005;0.149	.|B;B;B;B	.|0.22880	.|0.039;0.042;0.007;0.039	T|T	0.26608|0.26608	-1.0098|-1.0098	5|9	.|0.02654	.|T	.|1	.|.	4.8072|4.8072	0.13326|0.13326	0.1232:0.221:0.6558:0.0|0.1232:0.221:0.6558:0.0	.|.	.|83;83;83;82	.|B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.|.;.;A16L2_HUMAN;.	N|L	87|83	.|ENSP00000326340:V83L	.|ENSP00000326340:V83L	K|V	+|+	3|1	2|0	ATG16L2|ATG16L2	72206477|72206477	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.443000|0.443000	0.32047|0.32047	0.733000|0.733000	0.26087|0.26087	0.468000|0.468000	0.27243|0.27243	0.491000|0.491000	0.48974|0.48974	AAG|GTC		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		12	27	0	0	0	1	0	12	27				
TMEM39B	55116	broad.mit.edu	37	1	32542835	32542835	+	Missense_Mutation	SNP	C	C	T	rs372163088		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	ENST00000336294.5	+	5	652	c.506C>T	c.(505-507)aCg>aTg	p.T169M	TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000427288.1_Missense_Mutation_p.T54M	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(160-162)aCg>aTg		transmembrane protein 39B		C	MET/THR	0,4406		0,0,2203	197.0	158.0	171.0		506	5.1	1.0	1		171	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM39B	NM_018056.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	169/493	32542835	1,13005	2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32542835C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.506C>T	1.37:g.32542835C>T	ENSP00000338165:p.Thr169Met					TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169M	p.T54M			Q9GZU3	TM39B_HUMAN			6	641	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	169					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.161C>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317026	0.81469	0.0	1.16E-4	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000427288	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.999	P;D;P	0.91635	0.824;0.999;0.833	T	0.78231	-0.2284	9	0.34782	T	0.22	-13.6567	18.4865	0.90831	0.0:1.0:0.0:0.0	.	169;54;42	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	M	169;141;141;54	.	ENSP00000338165:T169M	T	+	2	0	TMEM39B	32315422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.716000	0.68437	2.535000	0.85469	0.498000	0.49722	ACG		0.592	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		17	160	0	0	0	1	0	17	160				
BCR	613	broad.mit.edu	37	22	23631729	23631729	+	Silent	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	ENST00000305877.8	+	13	3379	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_ENST00000359540.3_Silent_p.S876S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	876	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTGACATCCGTGGAGCTGC	0.572			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(2626-2628)tcC>tcG		breakpoint cluster region							114.0	96.0	102.0					22																	23631729		2203	4300	6503	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23631729C>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2628C>G	22.37:g.23631729C>G						BCR_ENST00000359540.3_Silent_p.S876S	p.S876S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			13	3379	+			876			C2.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.2628C>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	2.175	-0.389027	0.04932	.	.	ENSG00000186716	ENST00000290956	.	.	.	4.77	-9.53	0.00575	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60084	-0.7332	5	0.87932	D	0	.	0.9649	0.01403	0.2005:0.2145:0.1709:0.414	.	.	.	.	G	442	.	ENSP00000290956:R442G	R	+	1	0	BCR	21961729	0.000000	0.05858	0.085000	0.20634	0.316000	0.28119	-5.543000	0.00114	-2.481000	0.00523	-2.049000	0.00408	CGT		0.572	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		19	26	0	0	0	1	0	19	26				
KIF1B	23095	broad.mit.edu	37	1	10386237	10386237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	ENST00000377086.1	+	27	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M			O60333	KIF1B_HUMAN	kinesin family member 1B	915					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572																																						ENST00000377086.1																			1	Substitution - Missense(1)	p.T869M(1)	endometrium(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2743-2745)aCg>aTg		kinesin family member 1B							147.0	143.0	144.0					1																	10386237		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386237C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2744C>T	1.37:g.10386237C>T	ENSP00000366290:p.Thr915Met					KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M	p.T915M			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	2946	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	915					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2744C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.094755	0.76870	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72615	-0.59;-0.67;-0.67	5.74	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	N	0.03608	-0.345	0.58432	D	0.999995	D;D;D;D;P;P	0.63046	0.992;0.99;0.975;0.99;0.692;0.887	P;P;B;P;B;B	0.50490	0.623;0.469;0.374;0.642;0.042;0.157	T	0.62291	-0.6885	10	0.33141	T	0.24	.	14.49	0.67645	0.0:0.93:0.0:0.07	.	901;875;915;889;915;869	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	M	915;869;915;915	ENSP00000263934:T869M;ENSP00000366290:T915M;ENSP00000366284:T915M	ENSP00000263934:T869M	T	+	2	0	KIF1B	10308824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.778000	0.68940	1.431000	0.47355	0.650000	0.86243	ACG		0.572	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			21	220	0	0	0	1	0	21	220				
BTBD8	284697	broad.mit.edu	37	1	92606709	92606709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:92606709G>T	ENST00000342818.3	+	7	1107	c.871G>T	c.(871-873)Gga>Tga	p.G291*	BTBD8_ENST00000540648.1_Intron	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	291						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGACTAGAAGGATTAAAAGA	0.299																																						ENST00000342818.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(871-873)Gga>Tga		BTB (POZ) domain containing 8							59.0	65.0	63.0					1																	92606709		2186	4271	6457	SO:0001587	stop_gained	284697					nucleus		g.chr1:92606709G>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.871G>T	1.37:g.92606709G>T	ENSP00000343686:p.Gly291*					BTBD8_ENST00000540648.1_Intron	p.G291*	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	7	1107	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	291					Q6V9S5	Nonsense_Mutation	SNP	ENST00000342818.3	37	c.871G>T	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.317344	0.97467	.	.	ENSG00000189195	ENST00000342818	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.7869	18.1845	0.89789	0.0:0.0:1.0:0.0	.	.	.	.	X	291	.	ENSP00000343686:G291X	G	+	1	0	BTBD8	92379297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.700000	0.74619	2.464000	0.83262	0.467000	0.42956	GGA		0.299	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		3	58	1	0	0.150653	1	0.157827	3	58				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	167	0	0	0	1	0	4	167				
PLCG2	5336	broad.mit.edu	37	16	81953235	81953235	+	Missense_Mutation	SNP	C	C	A	rs199516791		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	ENST00000359376.3	+	20	2415	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	734	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2200-2202)cCc>cAc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							64.0	69.0	67.0					16																	81953235		1946	4125	6071	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953235C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2201C>A	16.37:g.81953235C>A	ENSP00000352336:p.Pro734His						p.P734H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			20	2415	+			734			SH2 2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2201C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819999	0.90873	.	.	ENSG00000197943	ENST00000359376	D	0.95069	-3.6	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.154508	0.64402	D	0.000015	D	0.98492	0.9497	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	D	0.99824	1.1049	10	0.87932	D	0	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	601;734	B4E3H3;P16885	.;PLCG2_HUMAN	H	734	ENSP00000352336:P734H	ENSP00000352336:P734H	P	+	2	0	PLCG2	80510736	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.665000	0.83852	2.392000	0.81423	0.655000	0.94253	CCC		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			23	57	1	0	6.38683e-12	1	7.26777e-12	23	57				
ADAM21P1	145241	broad.mit.edu	37	14	70713782	70713782	+	RNA	SNP	A	A	G	rs200469187		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:70713782A>G	ENST00000530196.1	-	0	736					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GTCACCAGCAAATTTTGGTTC	0.443																																						ENST00000530196.1																			0																																																			0							g.chr14:70713782A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713782A>G								NR_003951.1						0	736	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.443	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		3	64	0	0	0	1	0	3	64				
CACNA1D	776	broad.mit.edu	37	3	53837571	53837571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	ENST00000350061.5	+	44	6068	c.5557G>C	c.(5557-5559)Gag>Cag	p.E1853Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1873Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1853					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAATGCTACGAGGATGACAG	0.617																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5617-5619)Gag>Cag		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						119.0	123.0	121.0					3																	53837571		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837571G>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5557G>C	3.37:g.53837571G>C	ENSP00000288133:p.Glu1853Gln					CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1853Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q	p.E1873Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5735	+			1853					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5617G>C	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729491	0.48833	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.96885	-4.14;-4.16;-4.12;-4.15	4.56	4.56	0.56223	.	0.614924	0.13195	N	0.406445	D	0.96864	0.8976	M	0.69823	2.125	0.54753	D	0.999989	P;P;D;D	0.54047	0.553;0.657;0.964;0.958	B;B;P;P	0.53062	0.09;0.092;0.519;0.717	D	0.95509	0.8584	10	0.32370	T	0.25	.	15.8969	0.79341	0.0:0.0:1.0:0.0	.	1829;1546;1853;1873	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	Q	1853;1873;1829;1546;232	ENSP00000288133:E1853Q;ENSP00000288139:E1873Q;ENSP00000409174:E1829Q;ENSP00000418014:E1546Q	ENSP00000288139:E1873Q	E	+	1	0	CACNA1D	53812611	1.000000	0.71417	0.799000	0.32177	0.191000	0.23601	8.712000	0.91403	2.257000	0.74773	0.555000	0.69702	GAG		0.617	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		84	169	0	0	0	1	0	84	169				
WNK1	65125	broad.mit.edu	37	12	994382	994382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	ENST00000315939.6	+	19	5055	c.4412C>T	c.(4411-4413)cCt>cTt	p.P1471L	WNK1_ENST00000537687.1_Missense_Mutation_p.P1731L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1471					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5191-5193)cCt>cTt		WNK lysine deficient protein kinase 1							96.0	93.0	94.0					12																	994382		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994382C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4412C>T	12.37:g.994382C>T	ENSP00000313059:p.Pro1471Leu					WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1471L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L	p.P1731L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5835	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1471					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5192C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347982	0.24426	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70516	-0.49;-0.42;-0.44;-0.43;0.77	5.4	4.51	0.55191	.	0.293891	0.30028	N	0.010598	T	0.57431	0.2053	N	0.19112	0.55	0.45502	D	0.998463	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.55566	-0.8121	10	0.59425	D	0.04	-4.9131	14.4921	0.67657	0.0:0.9289:0.0:0.0711	.	1224;1224;1471	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1224;1471;1731;644;1969;1064	ENSP00000441972:P1224L;ENSP00000313059:P1471L;ENSP00000444465:P1731L;ENSP00000433548:P1969L;ENSP00000341292:P1064L	ENSP00000252477:P644L	P	+	2	0	WNK1	864643	0.031000	0.19500	1.000000	0.80357	0.249000	0.25844	1.816000	0.38992	1.413000	0.46997	0.655000	0.94253	CCT		0.507	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		27	82	0	0	0	1	0	27	82				
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612																																						ENST00000443060.2																			1	Substitution - Missense(1)	p.W3R(1)	skin(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(7-9)Tgg>Agg		kinesin family member 25							127.0	120.0	122.0					6																	168430272		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430272T>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.7T>A	6.37:g.168430272T>A	ENSP00000388878:p.Trp3Arg					KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R	p.W3R			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	398	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	3			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.7T>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.097855	0.00360	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.72725	-0.68;-0.68;0.12	0.785	0.785	0.18584	.	0.000000	0.46758	U	0.000269	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21552	-1.0242	9	.	.	.	.	3.8317	0.08877	0.0:0.0:0.0:1.0	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	R	3	ENSP00000388878:W3R;ENSP00000346401:W3R;ENSP00000252688:W3R	.	W	+	1	0	KIF25	168173121	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.031000	0.12287	0.590000	0.29694	0.334000	0.21626	TGG		0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			4	129	0	0	0	1	0	4	129				
DMGDH	29958	broad.mit.edu	37	5	78359457	78359457	+	Silent	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:78359457C>A	ENST00000255189.3	-	2	283	c.255G>T	c.(253-255)acG>acT	p.T85T	DMGDH_ENST00000380311.4_Missense_Mutation_p.G41C|DMGDH_ENST00000540686.1_Missense_Mutation_p.R11L|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	85					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGATCCAGCCGTGAGCTCTG	0.502																																						ENST00000380311.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(121-123)Ggc>Tgc		dimethylglycine dehydrogenase							210.0	184.0	192.0					5																	78359457		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78359457C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.255G>T	5.37:g.78359457C>A						DMGDH_ENST00000540686.1_Missense_Mutation_p.R11L|DMGDH_ENST00000255189.3_Silent_p.T85T|DMGDH_ENST00000520388.1_Intron	p.G41C			Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	2	263	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	243					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.121G>T	CCDS4044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.48|13.48	2.249272|2.249272	0.39797|0.39797	.|.	.|.	ENSG00000132837|ENSG00000132837	ENST00000380311|ENST00000540686	D|T	0.81579|0.80566	-1.51|-1.39	5.52|5.52	-5.13|-5.13	0.02884|0.02884	.|.	.|.	.|.	.|.	.|.	T|T	0.63105|0.63105	0.2483|0.2483	.|.	.|.	.|.	0.24308|0.24308	N|N	0.995099|0.995099	P|B	0.43169|0.02656	0.8|0.0	B|B	0.33846|0.01281	0.171|0.0	T|T	0.51204|0.51204	-0.8735|-0.8735	8|8	0.72032|0.87932	D|D	0.01|0	.|.	0.8809|0.8809	0.01234|0.01234	0.1621:0.2352:0.2688:0.3339|0.1621:0.2352:0.2688:0.3339	.|.	41|11	F8W6P8|B4E1J9	.|.	C|L	41|11	ENSP00000369667:G41C|ENSP00000439478:R11L	ENSP00000369667:G41C|ENSP00000439478:R11L	G|R	-|-	1|2	0|0	DMGDH|DMGDH	78395213|78395213	0.000000|0.000000	0.05858|0.05858	0.932000|0.932000	0.37286|0.37286	0.814000|0.814000	0.46013|0.46013	-1.734000|-1.734000	0.01848|0.01848	-0.937000|-0.937000	0.03719|0.03719	-1.191000|-1.191000	0.01696|0.01696	GGC|CGG		0.502	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		3	100	1	0	1	1	1	3	100				
LRP1B	53353	broad.mit.edu	37	2	141274478	141274478	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	ENST00000389484.3	-	50	9100	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2710	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8128-8130)gGa>gCa		low density lipoprotein receptor-related protein 1B							161.0	148.0	152.0					2																	141274478		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141274478C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8129G>C	2.37:g.141274478C>G	ENSP00000374135:p.Gly2710Ala	TSP Lung(27;0.18)					p.G2710A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	50	9100	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2710			LDL-receptor class A 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8129G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631741	0.87660	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.59502	0.26	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000003	T	0.73289	0.3568	M	0.64404	1.975	0.58432	D	0.999998	D	0.65815	0.995	D	0.67103	0.949	T	0.75736	-0.3213	10	0.56958	D	0.05	.	18.12	0.89568	0.0:1.0:0.0:0.0	.	2710	Q9NZR2	LRP1B_HUMAN	A	2710;2648	ENSP00000374135:G2710A	ENSP00000374135:G2710A	G	-	2	0	LRP1B	140990948	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.768000	0.85345	2.237000	0.73441	0.563000	0.77884	GGA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	67	0	0	0	1	0	25	67				
ZXDB	158586	broad.mit.edu	37	X	57620231	57620231	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:57620231G>A	ENST00000374888.1	+	1	1963	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	584	Required for transcriptional activation. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TCAGCTAGAAGCAGCAAATTC	0.463																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1750-1752)Gca>Aca		zinc finger, X-linked, duplicated B							170.0	136.0	148.0					X																	57620231		2202	4300	6502	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620231G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1750G>A	X.37:g.57620231G>A	ENSP00000364023:p.Ala584Thr						p.A584T	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	1963	+			584			Required for transcriptional activation (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1750G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.558726	0.27827	.	.	ENSG00000198455	ENST00000374888	T	0.09630	2.96	3.5	2.6	0.31112	.	0.184837	0.47093	D	0.000241	T	0.23094	0.0558	L	0.50333	1.59	0.39902	D	0.973917	D	0.69078	0.997	D	0.77004	0.989	T	0.00992	-1.1488	10	0.66056	D	0.02	.	9.2039	0.37278	0.0:0.0:0.7817:0.2183	.	584	P98169	ZXDB_HUMAN	T	584	ENSP00000364023:A584T	ENSP00000364023:A584T	A	+	1	0	ZXDB	57636956	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	1.995000	0.40767	0.628000	0.30357	0.483000	0.47432	GCA		0.463	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		10	192	0	0	0	1	0	10	192				
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T	rs370847654		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1705-1707)aaC>aaT		armadillo repeat containing 3		C		0,4406		0,0,2203	131.0	135.0	134.0		1707	2.0	0.3	10		134	1,8599		0,1,4299	no	coding-synonymous	ARMC3	NM_173081.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		569/873	23292319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23292319C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1707C>T	10.37:g.23292319C>T						ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N	p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1791	+			569					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.1707C>T	CCDS7142.1																																																																																				0.323	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		42	51	0	0	0	1	0	42	51				
TMEM217	221468	broad.mit.edu	37	6	37186714	37186714	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:37186714G>C	ENST00000336655.2	-	2	132	c.93C>G	c.(91-93)atC>atG	p.I31M	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.I31M	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	31						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTGTTCAAAGATGAGATACA	0.478																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(91-93)atC>atG		transmembrane protein 217							245.0	208.0	221.0					6																	37186714		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186714G>C		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.93C>G	6.37:g.37186714G>C	ENSP00000338164:p.Ile31Met					TMEM217_ENST00000356757.2_Missense_Mutation_p.I31M|TMEM217_ENST00000497775.1_Intron	p.I31M	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	132	-			31					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.93C>G	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799342	0.31869	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	2.89	0.33648	.	.	.	.	.	T	0.44623	0.1302	L	0.52573	1.65	0.31627	N	0.649578	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.39921	-0.9590	8	0.87932	D	0	-49.1685	6.1416	0.20263	0.101:0.1899:0.7091:0.0	.	31;31	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	M	31	.	ENSP00000338164:I31M	I	-	3	3	TMEM217	37294692	1.000000	0.71417	0.999000	0.59377	0.063000	0.16089	1.182000	0.32029	1.385000	0.46445	-0.192000	0.12808	ATC		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		3	158	0	0	0	1	0	3	158				
DNAH11	8701	broad.mit.edu	37	7	21640450	21640450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	ENST00000409508.3	+	16	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1053F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1053	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCATTTTCTCTTGTATGG	0.438									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3157-3159)Ctc>Ttc		dynein, axonemal, heavy chain 11							172.0	165.0	167.0					7																	21640450		1950	4145	6095	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640450C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3157C>T	7.37:g.21640450C>T	ENSP00000475939:p.Leu1053Phe					DNAH11_ENST00000409508.3_Missense_Mutation_p.L1053F	p.L1053F			Q96DT5	DYH11_HUMAN			16	3188	+			1053			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3157C>T		.	.	.	.	.	.	.	.	.	.	C	17.27	3.346051	0.61073	.	.	ENSG00000105877	ENST00000328843	T	0.26067	1.76	5.41	5.41	0.78517	.	0.150478	0.45126	D	0.000384	T	0.48277	0.1491	.	.	.	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.48670	-0.9015	9	0.62326	D	0.03	.	9.5475	0.39291	0.0:0.8428:0.0:0.1572	.	1053	Q96DT5	DYH11_HUMAN	F	1053	ENSP00000330671:L1053F	ENSP00000330671:L1053F	L	+	1	0	DNAH11	21606975	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.570000	0.53834	2.554000	0.86153	0.551000	0.68910	CTC		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		50	135	0	0	0	1	0	50	135				
SEMA3E	9723	broad.mit.edu	37	7	83119551	83119551	+	Missense_Mutation	SNP	G	G	T	rs370543242	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	ENST00000307792.3	-	2	622	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_ENST00000427262.1_5'UTR	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(154-156)cCt>cAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							76.0	72.0	73.0					7																	83119551		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119551G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.155C>A	7.37:g.83119551G>T	ENSP00000303212:p.Pro52His					SEMA3E_ENST00000427262.1_5'UTR	p.P52H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			2	622	-		Medulloblastoma(109;0.109)	52			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.155C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413302	0.25465	.	.	ENSG00000170381	ENST00000307792;ENST00000541514	T	0.21932	1.98	5.82	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.757705	0.11197	U	0.589237	T	0.26048	0.0635	L	0.50919	1.6	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.02805	-1.1108	10	0.46703	T	0.11	.	16.9497	0.86242	0.0:0.1279:0.8721:0.0	.	52	O15041	SEM3E_HUMAN	H	52	ENSP00000303212:P52H	ENSP00000303212:P52H	P	-	2	0	SEMA3E	82957487	1.000000	0.71417	0.904000	0.35570	0.423000	0.31445	3.355000	0.52262	1.454000	0.47793	0.585000	0.79938	CCT		0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		18	47	1	0	3.51602e-12	1	4.07118e-12	18	47				
METTL16	79066	broad.mit.edu	37	17	2324130	2324130	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:2324130G>A	ENST00000263092.6	-	9	1084	c.957C>T	c.(955-957)tcC>tcT	p.S319S	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Silent_p.S101S	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	319							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCTTCATCACGGACGCCAGCA	0.453																																						ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(955-957)tcC>tcT		methyltransferase like 16							251.0	235.0	240.0					17																	2324130		1924	4146	6070	SO:0001819	synonymous_variant	79066						methyltransferase activity	g.chr17:2324130G>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.957C>T	17.37:g.2324130G>A						METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Silent_p.S101S	p.S319S	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			9	1084	-			319					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	c.957C>T	CCDS42232.1																																																																																				0.453	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		79	179	0	0	0	1	0	79	179				
DHX38	9785	broad.mit.edu	37	16	72132924	72132924	+	Missense_Mutation	SNP	C	C	T	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	ENST00000268482.3	+	6	1372	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	288					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(862-864)cCg>cTg		DEAH (Asp-Glu-Ala-His) box polypeptide 38		C	LEU/PRO	0,4396		0,0,2198	41.0	41.0	41.0		863	4.9	0.9	16	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DHX38	NM_014003.3	98	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	288/1228	72132924	1,12995	2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72132924C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.863C>T	16.37:g.72132924C>T	ENSP00000268482:p.Pro288Leu					DHX38_ENST00000536867.1_Intron	p.P288L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			6	1372	+		Ovarian(137;0.125)	288					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.863C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661407	0.47572	0.0	1.16E-4	ENSG00000140829	ENST00000268482	T	0.02974	4.09	4.87	4.87	0.63330	.	0.058987	0.64402	D	0.000001	T	0.06096	0.0158	M	0.66297	2.02	0.80722	D	1	B	0.19817	0.039	B	0.09377	0.004	T	0.21075	-1.0256	10	0.48119	T	0.1	.	18.3634	0.90383	0.0:1.0:0.0:0.0	.	288	Q92620	PRP16_HUMAN	L	288	ENSP00000268482:P288L	ENSP00000268482:P288L	P	+	2	0	DHX38	70690425	1.000000	0.71417	0.948000	0.38648	0.061000	0.15899	7.304000	0.78882	2.419000	0.82065	0.563000	0.77884	CCG		0.617	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		16	29	0	0	0	1	0	16	29				
APOO	79135	broad.mit.edu	37	X	23899066	23899066	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	ENST00000379226.4	-	2	244	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_ENST00000379220.3_Missense_Mutation_p.I5F	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	5					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(13-15)Att>Ttt		apolipoprotein O							52.0	47.0	49.0					X																	23899066		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23899066T>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.13A>T	X.37:g.23899066T>A	ENSP00000368528:p.Ile5Phe					APOO_ENST00000379220.3_Missense_Mutation_p.I5F	p.I5F	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			2	244	-			5					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.13A>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019435	0.35606	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	.	.	.	5.01	0.957	0.19613	.	0.423932	0.26156	N	0.026008	T	0.39145	0.1067	L	0.43152	1.355	0.36501	D	0.869018	P	0.35383	0.498	B	0.31191	0.125	T	0.37596	-0.9699	9	0.51188	T	0.08	-0.9762	9.8555	0.41084	0.0:0.0:0.5336:0.4664	.	5	Q9BUR5	APOO_HUMAN	F	5	.	ENSP00000368522:I5F	I	-	1	0	APOO	23808987	1.000000	0.71417	0.993000	0.49108	0.647000	0.38526	1.148000	0.31614	-0.025000	0.13918	-0.378000	0.06908	ATT		0.478	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		29	37	0	0	0	1	0	29	37				
DDX26B	203522	broad.mit.edu	37	X	134711345	134711345	+	Silent	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:134711345A>G	ENST00000370752.4	+	14	2335	c.2001A>G	c.(1999-2001)gtA>gtG	p.V667V	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	667										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTTGTACATACAGGTA	0.443																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1999-2001)gtA>gtG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							114.0	91.0	99.0					X																	134711345		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134711345A>G	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2001A>G	X.37:g.134711345A>G						DDX26B_ENST00000493637.1_Intron	p.V667V	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2335	+	Acute lymphoblastic leukemia(192;6.56e-05)		667					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.2001A>G	CCDS35401.1																																																																																				0.443	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		3	80	0	0	0	1	0	3	80				
PSMC6	5706	broad.mit.edu	37	14	53175072	53175072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	ENST00000606149.1	+	2	147	c.131A>G	c.(130-132)gAa>gGa	p.E44G	PSMC6_ENST00000445930.2_Missense_Mutation_p.E58G	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(172-174)gAa>gGa		proteasome (prosome, macropain) 26S subunit, ATPase, 6							117.0	116.0	116.0					14																	53175072		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53175072A>G		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.131A>G	14.37:g.53175072A>G	ENSP00000475721:p.Glu44Gly					PSMC6_ENST00000606149.1_Missense_Mutation_p.E44G	p.E58G			P62333	PRS10_HUMAN			2	179	+	Breast(41;0.176)		44					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.173A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.660435|4.660435	0.88154|0.88154	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000556813	D|.	0.94457|.	-3.43|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86940|.	0.6054|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	P|.	0.52692|.	0.955|.	P|.	0.51453|.	0.67|.	D|.	0.90977|.	0.4824|.	10|.	0.72032|.	D|.	0.01|.	.|.	15.3064|15.3064	0.73995|0.73995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	44|.	P62333|.	PRS10_HUMAN|.	G|W	58|43	ENSP00000401802:E58G|.	ENSP00000401802:E58G|.	E|X	+|+	2|3	0|0	PSMC6|PSMC6	52244822|52244822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.870000|8.870000	0.92336|0.92336	2.078000|2.078000	0.62432|0.62432	0.459000|0.459000	0.35465|0.35465	GAA|TGA		0.353	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		20	18	0	0	0	1	0	20	18				
FLOT2	2319	broad.mit.edu	37	17	27207756	27207756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:27207756G>A	ENST00000394908.4	-	10	1327	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	FLOT2_ENST00000394906.2_Missense_Mutation_p.A463V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A408V|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	408					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCTGTGAGGGCATGCACAGA	0.597																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1387-1389)gCc>gTc		flotillin 2							77.0	82.0	80.0					17																	27207756		2158	4256	6414	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27207756G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1223C>T	17.37:g.27207756G>A	ENSP00000378368:p.Ala408Val					FLOT2_ENST00000394908.4_Missense_Mutation_p.A408V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.A408V	p.A463V			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		12	1465	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		408						Missense_Mutation	SNP	ENST00000394908.4	37	c.1388C>T	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	G	36	5.620497	0.96660	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.22539	1.95;1.95	5.51	5.51	0.81932	.	0.050763	0.85682	D	0.000000	T	0.47838	0.1467	M	0.78456	2.415	0.80722	D	1	D	0.64830	0.994	P	0.62649	0.905	T	0.48736	-0.9009	10	0.66056	D	0.02	-15.4799	18.4071	0.90539	0.0:0.0:1.0:0.0	.	408	Q14254	FLOT2_HUMAN	V	463;408	ENSP00000378366:A463V;ENSP00000378368:A408V	ENSP00000378366:A463V	A	-	2	0	FLOT2	24231882	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.773000	0.98989	2.587000	0.87381	0.561000	0.74099	GCC		0.597	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		5	138	0	0	0	1	0	5	138				
KIF19	124602	broad.mit.edu	37	17	72343952	72343952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	ENST00000389916.4	+	9	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	321	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(961-963)Gct>Act		kinesin family member 19							91.0	55.0	67.0					17																	72343952		2200	4287	6487	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72343952G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.961G>A	17.37:g.72343952G>A	ENSP00000374566:p.Ala321Thr						p.A321T	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			9	1099	+			321					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.961G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991483	0.74703	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76968	-1.06;-1.06	5.68	5.68	0.88126	Kinesin, motor domain (3);	.	.	.	.	D	0.89455	0.6720	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.997	D;P;P;P	0.67900	0.954;0.83;0.778;0.866	D	0.90249	0.4292	9	0.59425	D	0.04	.	18.629	0.91352	0.0:0.0:1.0:0.0	.	321;279;279;321	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	279;321	ENSP00000449134:A279T;ENSP00000374566:A321T	ENSP00000374566:A321T	A	+	1	0	KIF19	69855547	1.000000	0.71417	0.977000	0.42913	0.080000	0.17528	9.437000	0.97535	2.705000	0.92388	0.556000	0.70494	GCT		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		3	8	0	0	0	1	0	3	8				
DCAF12L1	139170	broad.mit.edu	37	X	125686452	125686452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	ENST00000371126.1	-	1	382	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	47								p.T47M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721																																						ENST00000371126.1																			1	Substitution - Missense(1)	p.T47M(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(139-141)aCg>aTg		DDB1 and CUL4 associated factor 12-like 1							21.0	27.0	25.0					X																	125686452		2163	4175	6338	SO:0001583	missense	139170							g.chrX:125686452G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.140C>T	X.37:g.125686452G>A	ENSP00000360167:p.Thr47Met						p.T47M	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	382	-			47					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.140C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696081	0.30052	.	.	ENSG00000198889	ENST00000371126	T	0.18016	2.24	3.48	-0.309	0.12769	.	.	.	.	.	T	0.14485	0.0350	L	0.61218	1.895	0.09310	N	1	P	0.48350	0.909	B	0.39027	0.288	T	0.16364	-1.0405	9	0.66056	D	0.02	.	3.4344	0.07440	0.4786:0.0:0.3317:0.1898	.	47	Q5VU92	DC121_HUMAN	M	47	ENSP00000360167:T47M	ENSP00000360167:T47M	T	-	2	0	DCAF12L1	125514133	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.815000	0.27253	-0.223000	0.09943	0.506000	0.49869	ACG		0.721	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		21	51	0	0	0	1	0	21	51				
HSPA13	6782	broad.mit.edu	37	21	15748040	15748040	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	ENST00000285667.3	-	4	748	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Silent_p.G19G	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	227						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(679-681)ggC>ggT		heat shock protein 70kDa family, member 13							122.0	116.0	118.0					21																	15748040		2203	4300	6503	SO:0001819	synonymous_variant	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15748040G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.681C>T	21.37:g.15748040G>A						HSPA13_ENST00000544452.1_Silent_p.G19G	p.G227G	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			4	748	-			227					B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	37	c.681C>T	CCDS13567.1																																																																																				0.483	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			32	97	0	0	0	1	0	32	97				
APBA1	320	broad.mit.edu	37	9	72131516	72131516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	ENST00000265381.4	-	2	833	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	204					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(610-612)gCg>gAg		amyloid beta (A4) precursor protein-binding, family A, member 1							22.0	22.0	22.0					9																	72131516		2199	4296	6495	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131516G>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.611C>A	9.37:g.72131516G>T	ENSP00000265381:p.Ala204Glu						p.A204E	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	833	-			204					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.611C>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060338	0.36373	.	.	ENSG00000107282	ENST00000265381	T	0.04758	3.56	5.26	4.37	0.52481	.	0.192207	0.45867	D	0.000324	T	0.03305	0.0096	N	0.14661	0.345	0.37112	D	0.900385	B	0.23650	0.089	B	0.25759	0.063	T	0.30563	-0.9974	10	0.07030	T	0.85	.	14.2349	0.65919	0.0723:0.0:0.9277:0.0	.	204	Q02410	APBA1_HUMAN	E	204	ENSP00000265381:A204E	ENSP00000265381:A204E	A	-	2	0	APBA1	71321336	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.090000	0.71397	1.373000	0.46208	0.561000	0.74099	GCG		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		12	12	1	0	7.93312e-07	1	8.72643e-07	12	12				
PDE8A	5151	broad.mit.edu	37	15	85610300	85610300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	ENST00000310298.4	+	4	551	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y|PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	100					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGCAGGGCATGTGAAAAAGCA	0.383																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(298-300)tGt>tAt		phosphodiesterase 8A							154.0	136.0	142.0					15																	85610300		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85610300G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.299G>A	15.37:g.85610300G>A	ENSP00000311453:p.Cys100Tyr					PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y	p.C100Y			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		4	551	+	Colorectal(223;0.227)		100					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.299G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138429	0.77775	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.41758	0.99;0.99;0.99	4.79	4.79	0.61399	Signal transduction response regulator, receiver domain (1);	0.047145	0.85682	D	0.000000	T	0.65688	0.2715	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.69932	-0.5011	10	0.87932	D	0	.	15.7307	0.77800	0.0:0.0:1.0:0.0	.	100;100	O60658-2;O60658	.;PDE8A_HUMAN	Y	100	ENSP00000311453:C100Y;ENSP00000378056:C100Y;ENSP00000340679:C100Y	ENSP00000311453:C100Y	C	+	2	0	PDE8A	83411304	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.828000	0.92047	2.642000	0.89623	0.655000	0.94253	TGT		0.383	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		38	31	0	0	0	1	0	38	31				
RNF19A	25897	broad.mit.edu	37	8	101287238	101287238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	ENST00000519449.1	-	4	1142	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	276					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(826-828)Cgt>Tgt		ring finger protein 19A, RBR E3 ubiquitin protein ligase							91.0	90.0	90.0					8																	101287238		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101287238G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.826C>T	8.37:g.101287238G>A	ENSP00000428968:p.Arg276Cys					RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C	p.R276C	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		4	1142	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		276					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.826C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821049	0.71028	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85411	-1.98;-1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	N	0.22421	0.69	0.80722	D	1	B	0.26081	0.141	B	0.20184	0.028	T	0.75616	-0.3256	10	0.72032	D	0.01	.	19.2824	0.94057	0.0:0.0:1.0:0.0	.	276	Q9NV58	RN19A_HUMAN	C	276	ENSP00000428968:R276C;ENSP00000342667:R276C	ENSP00000342667:R276C	R	-	1	0	RNF19A	101356414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.880000	0.98712	0.650000	0.86243	CGT		0.418	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		24	61	0	0	0	1	0	24	61				
GABRA1	2554	broad.mit.edu	37	5	161324195	161324195	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	ENST00000428797.2	+	11	1493	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P|GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	380					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCTAATTTGGCCAGGGGCGA	0.458																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1138-1140)Gcc>Ccc		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						102.0	113.0	110.0					5																	161324195		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324195G>C		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1138G>C	5.37:g.161324195G>C	ENSP00000393097:p.Ala380Pro					GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P|GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P	p.A380P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1493	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	380					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1138G>C	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527934	0.44969	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.260840	0.38959	N	0.001510	T	0.67998	0.2953	N	0.16743	0.435	0.58432	D	0.999999	B	0.14438	0.01	B	0.22152	0.038	T	0.62077	-0.6930	10	0.20519	T	0.43	.	14.9112	0.70758	0.0:0.143:0.857:0.0	.	380	P14867	GBRA1_HUMAN	P	380	ENSP00000023897:A380P;ENSP00000393097:A380P;ENSP00000377517:A380P;ENSP00000415441:A380P;ENSP00000408041:A380P;ENSP00000414232:A380P	ENSP00000023897:A380P	A	+	1	0	GABRA1	161256773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.229000	0.65316	2.642000	0.89623	0.563000	0.77884	GCC		0.458	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		36	118	0	0	0	1	0	36	118				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	59	0	0	0	1	0	3	59				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	61	0	0	0	1	0	4	61				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	4						3	4	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(166-171)ctcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388467_1388468delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.168_169delCA	4.37:g.1388469_1388470delCA	ENSP00000323978:p.Thr57fs						p.LT56fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3128_3129	+			56					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.168_169delCA	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	1081						8	1081	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140938299	140938299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:140938299delC	ENST00000371372.1	+	21	3505	c.3360delC	c.(3358-3360)ggcfs	p.G1120fs	CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000277549.5_Frame_Shift_Del_p.G312fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000545473.1_Frame_Shift_Del_p.G146fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.G1120fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1120					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGGAGCGGCCCCCGGCCTA	0.597																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(934-936)ggfs		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						255.0	290.0	278.0					9																	140938299		2133	4229	6362	SO:0001589	frameshift_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140938299delC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3360delC	9.37:g.140938299delC	ENSP00000360423:p.Gly1120fs					CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000545473.1_Frame_Shift_Del_p.G146fs	p.G312fs			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	21	3505	+	all_cancers(76;0.166)		1120					B1AQK5	Frame_Shift_Del	DEL	ENST00000371372.1	37	c.936delC	CCDS59522.1																																																																																				0.597	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		7	408						7	408	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A	rs587782341		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI043805	PTEN	I		c.(739-741)tccfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717715_89717716insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S247fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2097_2098	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.740_741insA	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		48	53						48	53	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	7						6	7	---	---	---	---
BACH1	571	broad.mit.edu	37	21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	TA	-	rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	ENST00000399921.1	+	3	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(1366-1368)tfs		BTB and CNC homology 1, basic leucine zipper transcription factor 1																																				SO:0001589	frameshift_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699512_30699513delTA	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1367_1368delTA	21.37:g.30699512_30699513delTA	ENSP00000382805:p.Leu456fs					BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs	p.L456fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1610_1611	+			456					Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	c.1367_1368delTA	CCDS13585.1																																																																																				0.436	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		29	53						29	53	---	---	---	---
