#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC11	85320	genome.wustl.edu	37	16	48204014	48204014	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr16:48204014A>C	ENST00000394747.1	-	27	4241		c.e27+1		ABCC11_ENST00000394748.1_Splice_Site|ABCC11_ENST00000353782.5_Intron|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000565329.1_Splice_Site|ABCC11_ENST00000356608.2_Splice_Site	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGGTGGCCTCACCTTGGAGTT	0.592																																						dbGAP											0													86.0	93.0	91.0					16																	48204014		2201	4300	6501	-	-	-	SO:0001630	splice_region_variant	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3891+1T>G	16.37:g.48204014A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Splice_Site	SNP	-	e27+2	ENST00000394747.1	37	c.3891+2	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323751	0.41096	.	.	ENSG00000121270	ENST00000356608;ENST00000394748;ENST00000394747	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9155	0.47133	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC11	46761515	1.000000	0.71417	0.987000	0.45799	0.192000	0.23643	6.645000	0.74343	1.836000	0.53414	0.529000	0.55759	.	ABCC11	-	-	ENSG00000121270		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	79	0.00	0	A	NM_032583	Intron	48204014	48204014	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	splice_site	36	14.29	6	SNP	1.000	C
ARHGAP21	57584	genome.wustl.edu	37	10	24923969	24923969	+	Missense_Mutation	SNP	C	C	A	rs201770528		TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr10:24923969C>A	ENST00000396432.2	-	5	818	c.332G>T	c.(331-333)gGa>gTa	p.G111V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	110	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAAGCAGGTCCTCCTTCTTT	0.343																																						dbGAP											0													124.0	117.0	119.0					10																	24923969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.332G>T	10.37:g.24923969C>A	ENSP00000379709:p.Gly111Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G111V	ENST00000396432.2	37	c.332	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471047	0.84533	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305;ENST00000535396	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62492	-0.6843	10	0.87932	D	0	.	17.791	0.88552	0.0:1.0:0.0:0.0	.	111;110;110	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	V	111;110;111;111;100;13	ENSP00000379709:G111V;ENSP00000365592:G111V;ENSP00000405018:G111V;ENSP00000400566:G100V	ENSP00000365592:G111V	G	-	2	0	ARHGAP21	24963975	1.000000	0.71417	0.606000	0.28943	0.943000	0.58893	6.731000	0.74785	2.571000	0.86741	0.557000	0.71058	GGA	ARHGAP21	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107863		0.343	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	127	0.00	0	C	NM_020824		24923969	24923969	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	missense	200	11.50	26	SNP	1.000	A
EAF1	85403	genome.wustl.edu	37	3	15469355	15469355	+	Silent	SNP	G	G	A			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr3:15469355G>A	ENST00000396842.2	+	1	494	c.69G>A	c.(67-69)gaG>gaA	p.E23E	METTL6_ENST00000443029.1_5'Flank|METTL6_ENST00000383790.3_5'Flank|METTL6_ENST00000450816.2_5'Flank|EAF1_ENST00000432764.2_5'UTR|METTL6_ENST00000383789.5_5'Flank	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						AGAGCTTCGAGAAGCGGCCGC	0.642																																						dbGAP											0													30.0	34.0	33.0					3																	15469355		1705	3134	4839	-	-	-	SO:0001819	synonymous_variant	0			AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.69G>A	3.37:g.15469355G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3F5|Q8IW10	Silent	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.E23	ENST00000396842.2	37	c.69	CCDS2626.1	3																																																																																			EAF1	-	pfam_Tscrpt_elong_fac_Eaf_N	ENSG00000144597		0.642	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF1	HGNC	protein_coding	OTTHUMT00000252100.4	35	0.00	0	G	NM_033083		15469355	15469355	+1	no_errors	ENST00000396842	ensembl	human	known	69_37n	silent	51	10.53	6	SNP	1.000	A
MT-ND1	4535	genome.wustl.edu	37	M	981	981	+	5'Flank	SNP	C	C	A			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chrM:981C>A	ENST00000361390.2	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAAGCTAAAACTCACCTGAGT	0.433																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.981C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.24	-	-	ENSG00000211459		0.433	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		16	0.00	0	C	YP_003024026		981	981	+1	no_errors	ENST00000389680	ensembl	human	known	69_37n	rna	42	16.00	8	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	7	19834	19834	+	IGR	SNP	C	C	G			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr7:19834C>G								None (None upstream) : AC093627.7 (51137 downstream)																							gctttcagtacaatataccgg	0.428																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															7.37:g.19834C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			AC093627.6	-	-	ENSG00000244758	0	0.428					ENSG00000244758	Clone_based_vega_gene			48	0.00	0	C			19834	19834	-1	no_errors	ENST00000480075	ensembl	human	known	69_37n	rna	31	16.22	6	SNP	0.002	G
FANCE	2178	genome.wustl.edu	37	6	35423973	35423973	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr6:35423973G>A	ENST00000229769.2	+	2	883	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	233	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GAGAAGGAGAGACCCGAACAT	0.532			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""Fanconi anemia, complementation group E"""		L	0													113.0	101.0	105.0					6																	35423973		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.698G>A	6.37:g.35423973G>A	ENSP00000229769:p.Arg233Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K907|Q4ZGH2	Missense_Mutation	SNP	pfam_Fanconi_anaemia_gr_E_prot_C	p.R233K	ENST00000229769.2	37	c.698	CCDS4805.1	6	.	.	.	.	.	.	.	.	.	.	G	9.215	1.032033	0.19590	.	.	ENSG00000112039	ENST00000229769	T	0.46819	0.86	4.96	0.47	0.16747	.	1.846500	0.02505	N	0.090916	T	0.14399	0.0348	L	0.29908	0.895	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.07829	-1.0752	10	0.26408	T	0.33	2.101	5.106	0.14785	0.2945:0.1615:0.544:0.0	.	233	Q9HB96	FANCE_HUMAN	K	233	ENSP00000229769:R233K	ENSP00000229769:R233K	R	+	2	0	FANCE	35531951	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.148000	0.10219	0.137000	0.18759	0.561000	0.74099	AGA	FANCE	-	NULL	ENSG00000112039		0.532	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCE	HGNC	protein_coding	OTTHUMT00000040282.1	114	0.00	0	G			35423973	35423973	+1	no_errors	ENST00000229769	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	0.000	A
PRAMEF7	441871	genome.wustl.edu	37	1	12980232	12980232	+	Silent	SNP	G	G	A	rs201674075		TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	0					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGTTGAATGCCTGCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1424G>A	1.37:g.12980232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP0	Silent	SNP	NULL	p.*475	ENST00000361079.2	37	c.1424	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.532	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		91	0.00	0	G	NM_001012277		12980232	12980232	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.000	A
PEX11B	8799	genome.wustl.edu	37	1	145522575	145522575	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr1:145522575A>G	ENST00000369306.3	+	4	585	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	PEX11B_ENST00000537888.1_Missense_Mutation_p.M132V|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	146					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGCCTACTGATGGAGCAAGA	0.502																																						dbGAP											0													146.0	136.0	139.0					1																	145522575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.436A>G	1.37:g.145522575A>G	ENSP00000358312:p.Met146Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	pfam_PEX11	p.M146V	ENST00000369306.3	37	c.436	CCDS917.1	1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115039	0.56505	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.44083	0.93;0.93	5.35	5.35	0.76521	.	0.037856	0.85682	D	0.000000	T	0.28167	0.0695	L	0.56280	1.765	0.58432	D	0.999999	B;B	0.20550	0.026;0.046	B;B	0.27608	0.057;0.081	T	0.17715	-1.0360	10	0.54805	T	0.06	-13.4407	13.3289	0.60475	1.0:0.0:0.0:0.0	.	132;146	B4DXH9;O96011	.;PX11B_HUMAN	V	146;132	ENSP00000358312:M146V;ENSP00000437510:M132V	ENSP00000358312:M146V	M	+	1	0	PEX11B	144233932	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.207000	0.58480	2.247000	0.74100	0.482000	0.46254	ATG	PEX11B	-	pfam_PEX11	ENSG00000131779		0.502	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	HGNC	protein_coding	OTTHUMT00000038549.1	145	0.00	0	A	NM_003846		145522575	145522575	+1	no_errors	ENST00000369306	ensembl	human	known	69_37n	missense	80	13.04	12	SNP	1.000	G
RNASEH2A	10535	genome.wustl.edu	37	19	12917877	12917877	+	Silent	SNP	G	G	A			TCGA-A2-A0ST-01A-12D-A099-09	TCGA-A2-A0ST-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	dd669f44-f64d-4afc-a5ac-5f7769d1db43	c807fd87-ecb7-49c7-9427-b5dd0b84bc4b	g.chr19:12917877G>A	ENST00000221486.4	+	2	277	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	61					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CAGATCTGGAGGCGCTGAAAG	0.612																																						dbGAP											0													53.0	47.0	49.0					19																	12917877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.183G>A	19.37:g.12917877G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCY1|Q96F11	Silent	SNP	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	p.E61	ENST00000221486.4	37	c.183	CCDS12282.1	19																																																																																			RNASEH2A	-	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	ENSG00000104889		0.612	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2A	HGNC	protein_coding	OTTHUMT00000451507.1	110	0.00	0	G	NM_006397		12917877	12917877	+1	no_errors	ENST00000221486	ensembl	human	known	69_37n	silent	62	13.89	10	SNP	1.000	A
