#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
PCNXL2	80003	broad.mit.edu	37	1	233152767	233152767	+	Missense_Mutation	SNP	A	A	T	rs538249519		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	ENST00000258229.9	-	27	4973	c.4739T>A	c.(4738-4740)aTt>aAt	p.I1580N	PCNXL2_ENST00000344698.2_Missense_Mutation_p.I232N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1580						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCATCATCAATGTTAATGTT	0.458																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4738-4740)aTt>aAt		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							143.0	137.0	139.0					1																	233152767		1985	4149	6134	SO:0001583	missense	80003					integral to membrane		g.chr1:233152767A>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4739T>A	1.37:g.233152767A>T	ENSP00000258229:p.Ile1580Asn					PCNXL2_uc001hvk.1_Missense_Mutation_p.I232N|PCNXL2_uc001hvm.1_Non-coding_Transcript	p.I1580N	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			26	4974	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1580					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4739T>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642831	0.67244	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26373	1.74;2.85	5.8	0.898	0.19264	.	0.149732	0.64402	D	0.000016	T	0.20740	0.0499	L	0.41415	1.275	0.80722	D	1	B;P	0.48089	0.002;0.905	B;B	0.42653	0.025;0.394	T	0.02015	-1.1229	10	0.87932	D	0	.	9.8652	0.41138	0.746:0.0:0.254:0.0	.	1580;232	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	N	232;1580	ENSP00000340759:I232N;ENSP00000258229:I1580N	ENSP00000258229:I1580N	I	-	2	0	PCNXL2	231219390	1.000000	0.71417	0.776000	0.31678	0.942000	0.58702	4.990000	0.63876	-0.100000	0.12241	-0.274000	0.10170	ATT		0.458	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		38	54	0	0	0	1	0	38	54				
TBX18	9096	broad.mit.edu	37	6	85446689	85446689	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	ENST00000369663.5	-	8	1875	c.1538C>G	c.(1537-1539)aCc>aGc	p.T513S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	513					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACCCTGATGGGTCTGGTTAGT	0.498																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1537-1539)aCc>aGc		Homo sapiens T-box 18 (TBX18), mRNA.							139.0	152.0	148.0					6																	85446689		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446689G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1538C>G	6.37:g.85446689G>C	ENSP00000358677:p.Thr513Ser					TBX18_uc010kbq.2_Intron	p.T513S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1538	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	513					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1538C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230436	0.05983	.	.	ENSG00000112837	ENST00000369663	D	0.87412	-2.25	5.26	5.26	0.73747	.	0.428736	0.27236	N	0.020284	T	0.65344	0.2682	N	0.12182	0.205	0.37536	D	0.9181	B	0.17268	0.021	B	0.15052	0.012	T	0.63395	-0.6647	10	0.11485	T	0.65	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	513	O95935	TBX18_HUMAN	S	513	ENSP00000358677:T513S	ENSP00000358677:T513S	T	-	2	0	TBX18	85503408	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.805000	0.55575	2.453000	0.82957	0.585000	0.79938	ACC		0.498	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		19	124	0	0	0	1	0	19	124				
BCL9L	283149	broad.mit.edu	37	11	118769524	118769524	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:118769524G>A	ENST00000334801.3	-	8	5064	c.4100C>T	c.(4099-4101)gCg>gTg	p.A1367V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1367	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCTGCTCCGCCATCATGTT	0.617																																						uc001pug.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.(4099-4101)gCg>gTg		Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.							37.0	38.0	38.0					11																	118769524		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.chr11:118769524G>A	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.4100C>T	11.37:g.118769524G>A	ENSP00000335320:p.Ala1367Val					BCL9L_uc009zal.3_Missense_Mutation_p.A1362V	p.A1367V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	5065	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1367			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.4100C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	g	19.18	3.778187	0.70107	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.47869	0.83	3.97	3.97	0.46021	.	0.352979	0.20033	U	0.100667	T	0.56202	0.1969	L	0.40543	1.245	0.49483	D	0.999798	D;D	0.71674	0.998;0.996	P;P	0.59012	0.85;0.711	T	0.60737	-0.7204	10	0.56958	D	0.05	-4.2762	16.411	0.83712	0.0:0.0:1.0:0.0	.	1362;1367	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	1367;1330;613;1322	ENSP00000335320:A1367V	ENSP00000335320:A1367V	A	-	2	0	BCL9L	118274734	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.622000	0.74233	1.931000	0.55961	0.298000	0.19748	GCG		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		3	47	0	0	0	1	0	3	47				
APOH	350	broad.mit.edu	37	17	64212937	64212937	+	Silent	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:64212937C>A	ENST00000205948.6	-	6	790	c.753G>T	c.(751-753)ctG>ctT	p.L251L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	251	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACCAGTTTCCCAGTTTGGTAC	0.418																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(751-753)ctG>ctT		Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.							139.0	136.0	137.0					17																	64212937		2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64212937C>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.753G>T	17.37:g.64212937C>A							p.L251L	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	812	-			251			Sushi 4.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.753G>T	CCDS11663.1																																																																																				0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		4	108	0	0	0	1	0	4	108				
FUT3	2525	broad.mit.edu	37	19	5844724	5844724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	ENST00000303225.6	-	3	761	c.127G>T	c.(127-129)Gga>Tga	p.G43*	FUT3_ENST00000589918.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000458379.2_Nonsense_Mutation_p.G43*	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	43					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTAGGGGATCCAGTGGCATCG	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(127-129)Gga>Tga		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.							23.0	25.0	24.0					19																	5844724		2203	4300	6503	SO:0001587	stop_gained	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844724C>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.127G>T	19.37:g.5844724C>A	ENSP00000305603:p.Gly43*					FUT3_uc002mdm.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdj.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdl.2_Nonsense_Mutation_p.G43*|FUT3_uc021unn.1_Nonsense_Mutation_p.G43*|BC033124_uc002mdn.3_5'Flank	p.G43*	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	224	-			43					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Nonsense_Mutation	SNP	ENST00000303225.6	37	c.127G>T	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911321	0.33721	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	.	.	.	0.931	-1.86	0.07760	.	2.011830	0.02604	N	0.101372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.7676	0.05324	0.3013:0.3982:0.3005:0.0	.	.	.	.	X	43	.	ENSP00000305603:G43X	G	-	1	0	FUT3	5795724	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.701000	0.05075	-0.888000	0.03956	0.205000	0.17691	GGA		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		8	12	0	0	0	1	0	8	12				
USP48	84196	broad.mit.edu	37	1	22084264	22084264	+	Silent	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	ENST00000308271.9	-	2	795	c.147A>G	c.(145-147)aaA>aaG	p.K49K	USP48_ENST00000529637.1_Silent_p.K49K|USP48_ENST00000421625.2_Silent_p.K49K|USP48_ENST00000400301.1_Silent_p.K49K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	49					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGGATTTCCTTTGCAGTTTC	0.333																																						uc010odq.2																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(145-147)aaA>aaG		Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.							87.0	80.0	83.0					1																	22084264		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22084264T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.147A>G	1.37:g.22084264T>C						USP48_uc001bfb.3_Silent_p.K49K|USP48_uc009vqc.3_Silent_p.K49K|USP48_uc001bfc.3_Silent_p.K49K|USP48_uc001bfe.1_Silent_p.K49K|USP48_uc001bff.3_Silent_p.K49K	p.K49K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	1	385	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	49					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.147A>G	CCDS30623.1																																																																																				0.333	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		19	22	0	0	0	1	0	19	22				
DNM1P47	100216544	broad.mit.edu	37	15	102294697	102294697	+	RNA	SNP	G	G	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr15:102294697G>T	ENST00000561463.1	+	0	2743									DNM1 pseudogene 47																		TCGTGGAGGCGTCGGCAGAGC	0.602																																						uc010usj.2																			0											c.(523-525)gcG>gcT		Homo sapiens cDNA clone IMAGE:40009338.																																						0							g.chr15:102294697G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294697G>T						DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank	p.A175A							4	584	+									Silent	SNP	ENST00000561463.1	37	c.525G>T																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	21	0	0	0	1	0	4	21				
OR10AG1	282770	broad.mit.edu	37	11	55735773	55735773	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	ENST00000312345.2	-	1	217	c.167A>G	c.(166-168)aAt>aGt	p.N56S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343																																						uc010rit.2																			0		p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(166-168)aAt>aGt		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							56.0	64.0	61.0					11																	55735773		2200	4296	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735773T>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.167A>G	11.37:g.55735773T>C	ENSP00000311477:p.Asn56Ser						p.N56S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	167	-	Esophageal squamous(21;0.0137)		56					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.167A>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	T	7.510	0.654528	0.14580	.	.	ENSG00000174970	ENST00000312345	T	0.12774	2.65	5.36	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.117120	0.38326	N	0.001727	T	0.17577	0.0422	M	0.78637	2.42	0.09310	N	1	P	0.45011	0.848	B	0.38921	0.285	T	0.18618	-1.0331	10	0.66056	D	0.02	.	9.6179	0.39704	0.0:0.0841:0.0:0.9159	.	56	Q8NH19	O10AG_HUMAN	S	56	ENSP00000311477:N56S	ENSP00000311477:N56S	N	-	2	0	OR10AG1	55492349	0.007000	0.16637	0.004000	0.12327	0.022000	0.10575	1.673000	0.37534	0.893000	0.36288	-0.698000	0.03680	AAT		0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		26	59	0	0	0	1	0	26	59				
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	ENST00000302610.1	-	1	475	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20976	0.0		0.0	False		,,,				2504	0.0					uc001nml.1																			1	Substitution - Missense(1)	p.R159H(2)	urinary_tract(1)	endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(475-477)cGt>cAt		Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	57.0	55.0	56.0		476	4.0	1.0	11	dbSNP_134	56	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR9I1	NM_001005211.1	29	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	benign	159/315	57886441	6,12988	2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886441C>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.476G>A	11.37:g.57886441C>T	ENSP00000302606:p.Arg159His					OR9Q1_uc001nmj.3_Intron	p.R159H	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			0	476	-		Breast(21;0.0589)	159					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.476G>A	CCDS31542.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.672	-0.801673	0.02841	2.27E-4	5.82E-4	ENSG00000172377	ENST00000302610	T	0.00017	9.1	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.00039	0.0001	N	0.01277	-0.915	0.09310	N	0.999993	B	0.33857	0.429	B	0.29176	0.099	T	0.03933	-1.0991	10	0.02654	T	1	-4.4557	7.1379	0.25539	0.0:0.7432:0.0:0.2568	.	159	Q8NGQ6	OR9I1_HUMAN	H	159	ENSP00000302606:R159H	ENSP00000302606:R159H	R	-	2	0	OR9I1	57643017	0.000000	0.05858	0.988000	0.46212	0.650000	0.38633	0.034000	0.13776	1.433000	0.47394	0.460000	0.39030	CGT		0.542	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		3	18	0	0	0	1	0	3	18				
MYH3	4621	broad.mit.edu	37	17	10558261	10558261	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	ENST00000583535.1	-	3	208	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	MYH3_ENST00000226209.7_Missense_Mutation_p.V41L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	41					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGAGTCCACCACGAAGCAA	0.507																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(121-123)Gtg>Ttg		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							241.0	226.0	231.0					17																	10558261		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10558261C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.121G>T	17.37:g.10558261C>A	ENSP00000464317:p.Val41Leu						p.V41L	NM_002470	NP_002461	P11055	MYH3_HUMAN			2	209	-			41			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.121G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784287	0.49997	.	.	ENSG00000109063	ENST00000226209	T	0.80304	-1.36	5.38	5.38	0.77491	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.78729	0.4329	L	0.61036	1.89	0.27742	N	0.944462	B	0.02656	0.0	B	0.09377	0.004	T	0.71441	-0.4592	9	0.72032	D	0.01	.	12.6162	0.56578	0.0:0.9249:0.0:0.0751	.	41	P11055	MYH3_HUMAN	L	41	ENSP00000226209:V41L	ENSP00000226209:V41L	V	-	1	0	MYH3	10498986	0.004000	0.15560	1.000000	0.80357	0.895000	0.52256	0.397000	0.20883	2.794000	0.96219	0.655000	0.94253	GTG		0.507	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		54	162	0	0	0	1	0	54	162				
HEG1	57493	broad.mit.edu	37	3	124746059	124746059	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	ENST00000311127.4	-	3	970	c.903C>T	c.(901-903)gaC>gaT	p.D301D		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	301					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATGAGGAAAGGTCTAAGAGAG	0.468																																						uc011bke.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(901-903)gaC>gaT		Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.							42.0	46.0	45.0					3																	124746059		1987	4151	6138	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746059G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.903C>T	3.37:g.124746059G>A						HEG1_uc003ehs.4_Silent_p.D301D	p.D301D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			2	971	-			301					Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.903C>T	CCDS46898.1																																																																																				0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		3	9	0	0	0	1	0	3	9				
PLEKHA5	54477	broad.mit.edu	37	12	19501352	19501352	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	ENST00000299275.6	+	19	2426	c.2420A>G	c.(2419-2421)tAc>tGc	p.Y807C	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y565C|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y796C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y870C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y789C|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y973C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	807					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333																																					Pancreas(196;329 2193 11246 14234 19524)	uc010sie.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2902-2904)tAc>tGc		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.							99.0	101.0	100.0					12																	19501352		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501352A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2420A>G	12.37:g.19501352A>G	ENSP00000299275:p.Tyr807Cys					PLEKHA5_uc001rea.3_Missense_Mutation_p.Y865C|PLEKHA5_uc001reb.3_Missense_Mutation_p.Y807C|PLEKHA5_uc009zin.3_Missense_Mutation_p.Y565C|PLEKHA5_uc010sig.2_Missense_Mutation_p.Y789C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y762C|PLEKHA5_uc021qvy.1_Missense_Mutation_p.Y796C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y616C|PLEKHA5_uc009zio.3_Intron	p.Y968C	NM_001143821	NP_001137293	Q9HAU0	PKHA5_HUMAN			24	3011	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		826					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2903A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745440	0.69418	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	D;T;D;T;T;T;D;D;D	0.88741	-2.42;2.11;-2.42;2.18;1.8;2.11;-2.42;-2.42;-2.42	5.09	5.09	0.68999	.	0.126713	0.56097	D	0.000040	D	0.94341	0.8181	M	0.83012	2.62	0.45239	D	0.998247	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;1.0;0.999;0.996;0.999;0.999;1.0	D	0.93978	0.7255	10	0.38643	T	0.18	-10.8403	15.1692	0.72858	1.0:0.0:0.0:0.0	.	870;789;796;968;973;807;865	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	C	870;865;969;973;807;565;865;796;789;762	ENSP00000325155:Y870C;ENSP00000347560:Y865C;ENSP00000404296:Y973C;ENSP00000299275:Y807C;ENSP00000440611:Y565C;ENSP00000439673:Y865C;ENSP00000400411:Y796C;ENSP00000439837:Y789C;ENSP00000440371:Y762C	ENSP00000299275:Y807C	Y	+	2	0	PLEKHA5	19392619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.014000	0.59158	0.460000	0.39030	TAC		0.333	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		9	78	0	0	0	1	0	9	78				
TKTL2	84076	broad.mit.edu	37	4	164394293	164394293	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	ENST00000280605.3	-	1	754	c.594T>G	c.(592-594)caT>caG	p.H198Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	198						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527																																						uc003iqp.4																			0		p.E197E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(592-594)caT>caG		Homo sapiens transketolase-like 2 (TKTL2), mRNA.							72.0	72.0	72.0					4																	164394293		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394293A>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.594T>G	4.37:g.164394293A>C	ENSP00000280605:p.His198Gln						p.H198Q	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			0	755	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	198					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.594T>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	9.085	1.000261	0.19121	.	.	ENSG00000151005	ENST00000280605	T	0.29397	1.57	3.75	0.831	0.18860	Transketolase, N-terminal (1);	0.060527	0.64402	D	0.000004	T	0.42562	0.1208	M	0.62016	1.91	0.51233	D	0.999919	D	0.61080	0.989	D	0.65323	0.934	T	0.23619	-1.0183	10	0.62326	D	0.03	-7.8207	5.3787	0.16179	0.2038:0.1685:0.6277:0.0	.	198	Q9H0I9	TKTL2_HUMAN	Q	198	ENSP00000280605:H198Q	ENSP00000280605:H198Q	H	-	3	2	TKTL2	164613743	0.978000	0.34361	0.002000	0.10522	0.009000	0.06853	0.793000	0.26944	0.164000	0.19529	-0.177000	0.13119	CAT		0.527	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		37	60	0	0	0	1	0	37	60				
KIF4B	285643	broad.mit.edu	37	5	154393803	154393803	+	Silent	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	ENST00000435029.4	+	1	544	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	128	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			K -> Q (in Ref. 1; AF241316). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTGATAAAAAGAGTGACT	0.373																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(382-384)aaA>aaG		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							82.0	88.0	86.0					5																	154393803		2203	4298	6501	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393803A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.384A>G	5.37:g.154393803A>G							p.K128K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	544	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	128	K -> Q (in Ref. 1; AF241316).		Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.384A>G	CCDS47324.1																																																																																				0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			39	75	0	0	0	1	0	39	75				
DOK5	55816	broad.mit.edu	37	20	53267018	53267018	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	ENST00000262593.5	+	8	1271	c.921A>T	c.(919-921)tgA>tgT	p.*307C	DOK5_ENST00000395939.1_Nonstop_Mutation_p.*199C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	0					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423																																						uc002xwy.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(919-921)tgA>tgT		Homo sapiens docking protein 5 (DOK5), mRNA.							83.0	70.0	74.0					20																	53267018		2203	4300	6503	SO:0001578	stop_lost	55816						insulin receptor binding	g.chr20:53267018A>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.921A>T	20.37:g.53267018A>T	ENSP00000262593:p.*307Cysext*2						p.*307C	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1141	+			0					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Nonstop_Mutation	SNP	ENST00000262593.5	37	c.921A>T	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402367	0.42613	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3115	0.74035	1.0:0.0:0.0:0.0	.	.	.	.	C	307;199	.	.	X	+	3	0	DOK5	52700425	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	5.981000	0.70524	2.207000	0.71202	0.533000	0.62120	TGA		0.423	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			4	45	0	0	0	1	0	4	45				
ABCG8	64241	broad.mit.edu	37	2	44079903	44079903	+	Missense_Mutation	SNP	C	C	T	rs201133496		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	ENST00000272286.2	+	6	950	c.860C>T	c.(859-861)aCg>aTg	p.T287M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	287	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCTGATGACGTCTGGCACC	0.587																																						uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(859-861)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.							92.0	84.0	87.0					2																	44079903		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079903C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.860C>T	2.37:g.44079903C>T	ENSP00000272286:p.Thr287Met					ABCG8_uc010yoa.2_Missense_Mutation_p.T287M	p.T287M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			5	950	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	287			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.860C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099860	0.56183	.	.	ENSG00000143921	ENST00000272286	T	0.41758	0.99	5.57	4.64	0.57946	ABC transporter-like (1);	0.216247	0.48767	D	0.000170	T	0.59018	0.2163	L	0.56769	1.78	0.45342	D	0.99833	D;D	0.76494	0.999;0.998	D;P	0.64595	0.927;0.847	T	0.62459	-0.6850	10	0.87932	D	0	.	15.9022	0.79387	0.0:0.8646:0.1354:0.0	.	287;287	Q9H221-2;Q9H221	.;ABCG8_HUMAN	M	287	ENSP00000272286:T287M	ENSP00000272286:T287M	T	+	2	0	ABCG8	43933407	1.000000	0.71417	0.096000	0.21009	0.137000	0.21094	4.575000	0.60908	2.614000	0.88457	0.655000	0.94253	ACG		0.587	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	71	0	0	0	1	0	6	71				
GUCY2C	2984	broad.mit.edu	37	12	14836053	14836053	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	ENST00000261170.3	-	4	670	c.534C>T	c.(532-534)aaC>aaT	p.N178N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	178					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGGCAGATCGTTGGTTTTCC	0.383																																						uc001rcd.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(532-534)aaC>aaT		Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.							97.0	91.0	93.0					12																	14836053		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14836053G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.534C>T	12.37:g.14836053G>A						GUCY2C_uc009zhz.2_Silent_p.N178N	p.N178N	NM_004963	NP_004954	P25092	GUC2C_HUMAN			3	671	-			178					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.534C>T	CCDS8664.1																																																																																				0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			21	24	0	0	0	1	0	21	24				
OR4M1	441670	broad.mit.edu	37	14	20249247	20249247	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	ENST00000315957.4	+	1	847	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTGGGCCATCCATCTACAT	0.423																																						uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(766-768)Tcc>Ccc		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							227.0	210.0	216.0					14																	20249247		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249247T>C		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.766T>C	14.37:g.20249247T>C	ENSP00000319654:p.Ser256Pro						p.S256P	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	766	+	all_cancers(95;0.00108)		256					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.766T>C	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.749035	0.49257	.	.	ENSG00000176299	ENST00000315957	T	0.00115	8.71	4.42	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.281254	0.25851	N	0.027888	T	0.00109	0.0003	L	0.38175	1.15	0.32041	N	0.598205	B	0.21905	0.062	B	0.20955	0.032	T	0.16305	-1.0407	10	0.72032	D	0.01	-11.3993	5.1896	0.15203	0.181:0.0:0.1883:0.6307	.	256	Q8NGD0	OR4M1_HUMAN	P	256	ENSP00000319654:S256P	ENSP00000319654:S256P	S	+	1	0	OR4M1	19319087	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.084000	0.14891	0.822000	0.34565	0.414000	0.27820	TCC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			43	126	0	0	0	1	0	43	126				
NUP210L	91181	broad.mit.edu	37	1	153984831	153984831	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	ENST00000368559.3	-	34	4740	c.4669T>A	c.(4669-4671)Tca>Aca	p.S1557T	NUP210L_ENST00000368553.1_Missense_Mutation_p.S490T|NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1557					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATCTTGATGATGCATTGACC	0.413																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4669-4671)Tca>Aca		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							272.0	241.0	251.0					1																	153984831		1956	4166	6122	SO:0001583	missense	91181					integral to membrane		g.chr1:153984831A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4669T>A	1.37:g.153984831A>T	ENSP00000357547:p.Ser1557Thr					NUP210L_uc009woq.3_Missense_Mutation_p.S466T|NUP210L_uc010peh.2_Missense_Mutation_p.S1557T	p.S1557T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		33	4741	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1557					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4669T>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047196	0.55110	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23348	3.44;1.91;3.24	6.0	6.0	0.97389	.	0.250753	0.28589	N	0.014802	T	0.11836	0.0288	L	0.44542	1.39	0.27433	N	0.953946	P;P	0.50443	0.935;0.935	P;P	0.45753	0.492;0.492	T	0.13737	-1.0498	10	0.09590	T	0.72	-31.9468	13.9332	0.64010	1.0:0.0:0.0:0.0	.	1557;1557	E7EP56;Q5VU65	.;P210L_HUMAN	T	1557;490;1557	ENSP00000357547:S1557T;ENSP00000357541:S490T;ENSP00000271854:S1557T	ENSP00000271854:S1557T	S	-	1	0	NUP210L	152251455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.973000	0.63763	2.313000	0.78055	0.454000	0.30748	TCA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		64	103	0	0	0	1	0	64	103				
ADO	84890	broad.mit.edu	37	10	64565000	64565000	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	ENST00000373783.1	+	1	485	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	61						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687																																						uc001jmg.3																			0				lung(2)	2						c.(181-183)Ctc>Gtc		Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.							19.0	20.0	19.0					10																	64565000		2199	4293	6492	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565000C>G	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.181C>G	10.37:g.64565000C>G	ENSP00000362888:p.Leu61Val						p.L61V	NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN			0	485	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		61					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.181C>G	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	c	1.896	-0.454375	0.04540	.	.	ENSG00000181915	ENST00000373783	T	0.49720	0.77	4.99	0.65	0.17812	Cupin, RmlC-type (1);	0.224693	0.35870	N	0.002922	T	0.17323	0.0416	N	0.02539	-0.55	0.24527	N	0.994137	B	0.11235	0.004	B	0.15052	0.012	T	0.30736	-0.9968	10	0.06494	T	0.89	-11.3433	10.5299	0.44971	0.0738:0.372:0.5542:0.0	.	61	Q96SZ5	AEDO_HUMAN	V	61	ENSP00000362888:L61V	ENSP00000362888:L61V	L	+	1	0	ADO	64235006	0.953000	0.32496	1.000000	0.80357	0.843000	0.47879	0.331000	0.19733	0.216000	0.20781	-0.777000	0.03380	CTC		0.687	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		13	9	0	0	0	1	0	13	9				
APOB	338	broad.mit.edu	37	2	21245891	21245891	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	ENST00000233242.1	-	18	2755	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	876					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGGAGGGTTTTGCCACCA	0.473																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2626-2628)aaA>aaT		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						100.0	103.0	102.0					2																	21245891		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245891T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2628A>T	2.37:g.21245891T>A	ENSP00000233242:p.Lys876Asn						p.K876N	NM_000384	NP_000375	P04114	APOB_HUMAN			17	2756	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		876					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2628A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383134	0.61845	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21031	2.03	5.51	0.263	0.15602	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.177736	0.38778	N	0.001571	T	0.35998	0.0951	M	0.75447	2.3	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.08953	-1.0697	10	0.49607	T	0.09	.	9.1461	0.36933	0.0:0.3577:0.0:0.6423	.	876	P04114	APOB_HUMAN	N	876	ENSP00000233242:K876N	ENSP00000233242:K876N	K	-	3	2	APOB	21099396	0.988000	0.35896	0.614000	0.29051	0.722000	0.41435	0.182000	0.16900	0.045000	0.15804	-0.290000	0.09829	AAA		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	69	0	0	0	1	0	4	69				
DCLRE1C	64421	broad.mit.edu	37	10	14950925	14950925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	ENST00000378278.2	-	14	1598	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L174F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L401F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.L401F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	521					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGAAAAGCTTTGGTGAC	0.453								Non-homologous end-joining																														uc001inn.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1561-1563)Ctt>Ttt	Non-homologous end-joining	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.							49.0	49.0	49.0					10																	14950925		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950925G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1561C>T	10.37:g.14950925G>A	ENSP00000367527:p.Leu521Phe					DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.L174F|DCLRE1C_uc001inl.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inr.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xji.3_Missense_Mutation_p.L406F|DCLRE1C_uc001inm.3_Missense_Mutation_p.L401F|DCLRE1C_uc001ino.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inq.3_Missense_Mutation_p.L401F|DCLRE1C_uc021pni.1_Missense_Mutation_p.L406F	p.L521F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			13	1646	-			521					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1561C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924458	0.73213	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.93	5.02	0.67125	.	0.188507	0.45361	D	0.000369	T	0.34395	0.0896	L	0.34521	1.04	0.36403	D	0.863263	D;D	0.63046	0.992;0.99	P;P	0.62298	0.9;0.762	T	0.42949	-0.9421	10	0.72032	D	0.01	.	9.6033	0.39619	0.0736:0.0:0.7823:0.1441	.	406;521	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	F	401;406;406;406;401;401;401;521;401;174	ENSP00000400529:L401F;ENSP00000367492:L406F;ENSP00000350349:L406F;ENSP00000367496:L406F;ENSP00000380030:L401F;ENSP00000367503:L401F;ENSP00000367502:L401F;ENSP00000367527:L521F;ENSP00000367506:L401F;ENSP00000367488:L174F	ENSP00000350349:L406F	L	-	1	0	DCLRE1C	14990931	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.860000	0.39428	1.486000	0.48398	0.655000	0.94253	CTT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		10	29	0	0	0	1	0	10	29				
JAK1	3716	broad.mit.edu	37	1	65309860	65309860	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	ENST00000342505.4	-	17	2538	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	764	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAGTCCTCAACACACTCAGGA	0.488			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2290-2292)Gtt>Att		Homo sapiens Janus kinase 1 (JAK1), mRNA.							163.0	162.0	163.0					1																	65309860		2048	4193	6241	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309860C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2290G>A	1.37:g.65309860C>T	ENSP00000343204:p.Val764Ile					JAK1_uc009wam.1_Missense_Mutation_p.V764I|JAK1_uc009wal.1_5'UTR	p.V764I	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2539	-			764			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2290G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145495	0.37825	.	.	ENSG00000162434	ENST00000342505	T	0.81078	-1.45	5.37	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.69878	0.3160	N	0.17901	0.54	0.53005	D	0.999968	D	0.69078	0.997	D	0.80764	0.994	T	0.70615	-0.4823	9	0.06099	T	0.92	-4.1919	14.4518	0.67389	0.0:0.9298:0.0:0.0702	.	764	P23458	JAK1_HUMAN	I	764	ENSP00000343204:V764I	ENSP00000343204:V764I	V	-	1	0	JAK1	65082448	1.000000	0.71417	0.993000	0.49108	0.305000	0.27757	2.851000	0.48302	1.511000	0.48818	-0.215000	0.12644	GTT		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		42	105	0	0	0	1	0	42	105				
NSD1	64324	broad.mit.edu	37	5	176721551	176721552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	ENST00000439151.2	+	23	7227_7228	c.7182_7183insA	c.(7183-7185)actfs	p.T2395fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.T2126fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.T2126fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.T2292fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2395	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACTGCTCATTACTAGCAGTCC	0.545			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7180-7185)attactfs		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721551_176721552insA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7183dupA	5.37:g.176721552_176721552dupA	ENSP00000395929:p.Thr2395fs	HNSCC(47;0.14)				NSD1_uc003mft.4_Frame_Shift_Ins_p.I2125fs|NSD1_uc011dfx.2_Frame_Shift_Ins_p.I2042fs|NSD1_uc021yip.1_Frame_Shift_Ins_p.I218fs	p.I2394fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	22	7320_7321	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2394			Pro-rich.		Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.7182_7183insA	CCDS4412.1																																																																																				0.545	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		44	76						44	76	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133266955	133266955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	ENST00000317479.3	+	2	294	c.229delG	c.(229-231)gttfs	p.V77fs	PXMP2_ENST00000545677.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000539093.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.V77fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Del_p.P2fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	77						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAGATATGCCGTTTACGGGTG	0.498																																						uc001ukt.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(229-231)gttfs		Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.							74.0	73.0	74.0					12																	133266955		2203	4300	6503	SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266955delG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.229delG	12.37:g.133266955delG	ENSP00000321271:p.Val77fs					PGAM5_uc010tbr.2_Non-coding_Transcript	p.V77fs	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	1	294	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		77						Frame_Shift_Del	DEL	ENST00000317479.3	37	c.229delG	CCDS9279.1																																																																																				0.498	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		18	36						18	36	---	---	---	---
