#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_CAF	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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND2	4536	genome.wustl.edu	37	M	2866	2866	+	5'Flank	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:2866A>G	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TGCTAAGACTTCACCAGTCAA	0.453																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2866A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.453	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		145	10	0	0.00	0	0	A	YP_003024027	0	0		2866	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	144	0	22.16	100.00	41	2	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	2978	2978	+	5'Flank	SNP	T	T	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:2978T>C	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCAACAATAGGGTTTACGACC	0.433																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2978T>C	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.433	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		65	8	0	0.00	0	0	T	YP_003024028	0	0		2978	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	70	1	15.66	66.67	13	2	SNP	NULL	C
CXorf22	170063	genome.wustl.edu	37	X	35959479	35959479	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrX:35959479A>G	ENST00000297866.5	+	3	547	c.481A>G	c.(481-483)Aaa>Gaa	p.K161E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	161										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGTATATTCTAAAGAGATTAC	0.353																																							0											0													60.0	57.0	58.0					X																	35959479		2201	4294	6495	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.481A>G	X.37:g.35959479A>G	ENSP00000297866:p.Lys161Glu		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.K161E	ENST00000297866.5	37	c.481	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039106	0.35989	.	.	ENSG00000165164	ENST00000297866	T	0.42131	0.98	5.71	4.55	0.56014	.	0.093298	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.26237	N	0.978932	D	0.65815	0.995	P	0.61940	0.896	T	0.54589	-0.8271	10	0.51188	T	0.08	-18.4784	8.6482	0.34018	0.9133:0.0:0.0867:0.0	.	161	Q6ZTR5	CX022_HUMAN	E	161	ENSP00000297866:K161E	ENSP00000297866:K161E	K	+	1	0	CXorf22	35869400	1.000000	0.71417	0.192000	0.23308	0.026000	0.11368	3.399000	0.52586	0.801000	0.34066	0.437000	0.28790	AAA	0	superfamily_PapD-like		0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	83	118	0	0.00	0	0	A	NM_152632	0	0		35959479	1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	96	153	7.69	11.43	8	20	SNP	0.812	G
BCOR	54880	genome.wustl.edu	37	X	39933500	39933500	+	Missense_Mutation	SNP	A	A	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrX:39933500A>T	ENST00000378444.4	-	4	1327	c.1099T>A	c.(1099-1101)Tct>Act	p.S367T	BCOR_ENST00000397354.3_Missense_Mutation_p.S367T|BCOR_ENST00000378455.4_Missense_Mutation_p.S367T|BCOR_ENST00000342274.4_Missense_Mutation_p.S367T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	367					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTGAAGGAGAGGTGGAGATC	0.622			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													45.0	34.0	38.0					X																	39933500		2202	4300	6502	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1099T>A	X.37:g.39933500A>T	ENSP00000367705:p.Ser367Thr		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S367T	ENST00000378444.4	37	c.1099	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	A	16.01	3.002676	0.54254	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.56	5.56	0.83823	.	.	.	.	.	T	0.36193	0.0958	L	0.29908	0.895	0.44462	D	0.99739	D;D;D;D	0.67145	0.996;0.996;0.994;0.996	D;D;D;D	0.77557	0.99;0.99;0.977;0.99	T	0.20338	-1.0278	9	0.72032	D	0.01	-15.0327	9.3387	0.38067	0.9192:0.0:0.0808:0.0	.	367;367;367;367	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	367	ENSP00000367716:S367T;ENSP00000380512:S367T;ENSP00000367705:S367T;ENSP00000345923:S367T;ENSP00000384485:S367T	ENSP00000345923:S367T	S	-	1	0	BCOR	39818444	1.000000	0.71417	0.255000	0.24374	0.992000	0.81027	4.761000	0.62243	1.865000	0.54081	0.486000	0.48141	TCT	0	NULL		0.622	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	24	98	0	0.00	0	0	A	NM_017745	0	0		39933500	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	missense	38	130	11.63	12.08	5	18	SNP	0.993	T
EPS15	2060	genome.wustl.edu	37	1	51929355	51929355	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:51929355A>G	ENST00000371733.3	-	7	587	c.491T>C	c.(490-492)aTc>aCc	p.I164T	EPS15_ENST00000371730.2_Missense_Mutation_p.I164T|RP11-253A20.1_ENST00000424246.1_RNA	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	164	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TCTTCCAAGGATATCCACAGG	0.303			T	MLL	ALL																																		0		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											65.0	63.0	64.0					1																	51929355		2203	4299	6502	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.491T>C	1.37:g.51929355A>G	ENSP00000360798:p.Ile164Thr		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.I164T	ENST00000371733.3	37	c.491	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240797	0.39598	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28255	1.62;1.62	3.77	3.77	0.43336	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.18425	0.0442	N	0.04787	-0.16	0.80722	D	1	P;P	0.44429	0.826;0.835	B;P	0.45794	0.446;0.493	T	0.04946	-1.0916	9	0.19147	T	0.46	.	12.43	0.55569	1.0:0.0:0.0:0.0	.	164;164	B1AUU8;P42566	.;EPS15_HUMAN	T	164	ENSP00000360795:I164T;ENSP00000360798:I164T	ENSP00000360792:I164T	I	-	2	0	EPS15	51701943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.865000	0.75500	1.947000	0.56498	0.533000	0.62120	ATC	0	smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology		0.303	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	protein_coding	OTTHUMT00000022422.1	187	217	0	0.00	0	0	A	NM_001981	0	0		51929355	-1	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	138	220	8	6.38	12	15	SNP	1	G
LMX1A	4009	genome.wustl.edu	37	1	165218733	165218733	+	Silent	SNP	G	G	A			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:165218733G>A	ENST00000342310.3	-	4	790	c.408C>T	c.(406-408)gtC>gtT	p.V136V	LMX1A_ENST00000367893.4_Silent_p.V136V|LMX1A_ENST00000294816.2_Silent_p.V136V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	136	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTCCTTCAGGACAAACTCAT	0.577																																							0											0													80.0	76.0	78.0					1																	165218733		2203	4300	6503	SO:0001819	synonymous_variant	0			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.408C>T	1.37:g.165218733G>A			B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.V136	ENST00000342310.3	37	c.408	CCDS1247.1	1																																																																																			0	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.577	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	protein_coding	OTTHUMT00000083668.2	43	54	0	0.00	0	0	G	NM_177398	0	0		165218733	-1	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	38	86	9.52	18.10	4	19	SNP	0.988	A
DSTYK	25778	genome.wustl.edu	37	1	205180465	205180465	+	Missense_Mutation	SNP	G	G	C	rs543550172		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:205180465G>C	ENST00000367162.3	-	1	229	c.199C>G	c.(199-201)Ctc>Gtc	p.L67V	DSTYK_ENST00000367160.4_Missense_Mutation_p.L67V|DSTYK_ENST00000367161.3_Missense_Mutation_p.L67V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	67					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ccgcccgTGAGGGAGGAGAGA	0.692																																							0											0													24.0	23.0	23.0					1																	205180465		2203	4299	6502	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.199C>G	1.37:g.205180465G>C	ENSP00000356130:p.Leu67Val		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L67V	ENST00000367162.3	37	c.199	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150743	0.01700	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.77877	-0.64;-1.05;-1.13	4.42	3.49	0.39957	.	0.799129	0.11144	N	0.594874	T	0.52917	0.1764	N	0.08118	0	0.18873	N	0.999989	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.41592	-0.9500	10	0.02654	T	1	-1.3466	7.4255	0.27096	0.0934:0.172:0.7346:0.0	.	67;67	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	V	67	ENSP00000356128:L67V;ENSP00000356129:L67V;ENSP00000356130:L67V	ENSP00000356128:L67V	L	-	1	0	DSTYK	203447088	0.973000	0.33851	0.968000	0.41197	0.267000	0.26476	1.572000	0.36461	1.061000	0.40601	0.561000	0.74099	CTC	0	NULL		0.692	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	protein_coding	OTTHUMT00000090345.1	83	75	0	0.00	0	0	G	NM_015375	0	0		205180465	-1	no_errors	ENST00000367162	ensembl	human	known	74_37	missense	95	111	10.38	5.93	11	7	SNP	0.937	C
FSIP2	401024	genome.wustl.edu	37	2	186665769	186665769	+	Silent	SNP	G	G	A			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr2:186665769G>A	ENST00000424728.1	+	17	11736	c.11736G>A	c.(11734-11736)ttG>ttA	p.L3912L	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Silent_p.L4001L|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3912										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTAATTCTTTGACAGTATCCC	0.343																																							0											0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11736G>A	2.37:g.186665769G>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.L4001	ENST00000424728.1	37	c.12003		2																																																																																			0	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	48	181	0	0.00	0	0	G	NM_173651	0	0		186665769	1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	34	192	12.82	10.28	5	22	SNP	0	A
CCDC66	285331	genome.wustl.edu	37	3	56657536	56657536	+	IGR	SNP	T	T	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr3:56657536T>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000355628.5_Silent_p.E1453E|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000431842.2_Silent_p.E1077E|FAM208A_ENST00000485156.1_5'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATGTGAGATTTCATCCCCTG	0.343																																							0											0													130.0	134.0	133.0					3																	56657536		2203	4300	6503	SO:0001628	intergenic_variant	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56657536T>C			B3KWL8|Q4VC34|Q8N949	Silent	SNP	pfam_DUF3715	p.E1453	ENST00000394672.3	37	c.4359	CCDS46852.1	3																																																																																			0	NULL		0.343	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM208A	protein_coding	OTTHUMT00000341473.1	31	218	0	0.00	0	0	T	NM_001012506	0	0		56657536	-1	no_errors	ENST00000355628	ensembl	human	known	74_37	silent	37	234	13.64	9.30	6	24	SNP	1	C
CMSS1	84319	genome.wustl.edu	37	3	99886630	99886630	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr3:99886630C>T	ENST00000421999.2	+	6	610	c.464C>T	c.(463-465)tCg>tTg	p.S155L	CMSS1_ENST00000489081.1_Missense_Mutation_p.S137L	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	155							poly(A) RNA binding (GO:0044822)										GAGAAGAAATCGGTCCTGATG	0.418																																							0											0													174.0	180.0	178.0					3																	99886630		2203	4300	6503	SO:0001583	missense	0				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.464C>T	3.37:g.99886630C>T	ENSP00000410396:p.Ser155Leu		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase	p.S155L	ENST00000421999.2	37	c.464	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	C	30	5.051385	0.93740	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116646	0.64402	D	0.000011	T	0.58722	0.2142	M	0.65320	2	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	T	0.54886	-0.8226	9	.	.	.	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	155	Q9BQ75	CC026_HUMAN	L	155;137;111	ENSP00000410396:S155L;ENSP00000419161:S137L;ENSP00000417293:S111L	.	S	+	2	0	C3orf26	101369320	1.000000	0.71417	0.937000	0.37676	0.954000	0.61252	6.502000	0.73695	2.642000	0.89623	0.655000	0.94253	TCG	0	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	protein_coding	OTTHUMT00000353060.1	70	173	0	0.00	0	0	C	NM_032359	0	0		99886630	1	no_errors	ENST00000421999	ensembl	human	known	74_37	missense	60	157	14.29	7.06	10	12	SNP	0.996	T
TDO2	6999	genome.wustl.edu	37	4	156830136	156830136	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr4:156830136C>T	ENST00000536354.2	+	5	465	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		ATTCTGGAGACGATGACAGCC	0.438																																					Colon(57;928 1036 2595 6946 26094)		0											0													98.0	86.0	90.0					4																	156830136		2203	4300	6503	SO:0001583	missense	0				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.401C>T	4.37:g.156830136C>T	ENSP00000444788:p.Thr134Met			Missense_Mutation	SNP	pfam_Trp_2_3_dOase	p.T134M	ENST00000536354.2	37	c.401	CCDS34086.1	4	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808052	0.70797	.	.	ENSG00000151790	ENST00000506072;ENST00000507590;ENST00000536354	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92459	0.5976	9	0.87932	D	0	-16.8798	19.9103	0.97024	0.0:1.0:0.0:0.0	.	134	P48775	T23O_HUMAN	M	27;27;134	.	ENSP00000281525:T134M	T	+	2	0	TDO2	157049586	1.000000	0.71417	0.864000	0.33941	0.329000	0.28539	7.417000	0.80156	2.765000	0.95021	0.650000	0.86243	ACG	0	pfam_Trp_2_3_dOase		0.438	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	protein_coding	OTTHUMT00000366209.3	79	135	0	0.00	0	0	C	NM_005651	0	0		156830136	1	no_errors	ENST00000536354	ensembl	human	known	74_37	missense	62	112	8.82	6.61	6	8	SNP	1	T
ACSL1	2180	genome.wustl.edu	37	4	185678349	185678349	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr4:185678349G>A	ENST00000515030.1	-	21	2352	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	ACSL1_ENST00000281455.2_Missense_Mutation_p.A676V|ACSL1_ENST00000437665.3_Missense_Mutation_p.A505V|ACSL1_ENST00000507295.1_Missense_Mutation_p.A642V|ACSL1_ENST00000504342.1_Missense_Mutation_p.A676V|ACSL1_ENST00000513317.1_Missense_Mutation_p.A676V|ACSL1_ENST00000454703.2_Missense_Mutation_p.A505V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	676					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGCCTTTTCGCCTTCATTGT	0.438																																							0											0													109.0	106.0	107.0					4																	185678349		2203	4300	6503	SO:0001583	missense	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.2027C>T	4.37:g.185678349G>A	ENSP00000422607:p.Ala676Val		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A676V	ENST00000515030.1	37	c.2027	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359477	0.61403	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	6.06	6.06	0.98353	.	0.089268	0.85682	D	0.000000	T	0.10121	0.0248	L	0.46885	1.475	0.80722	D	1	B;P;P;P	0.38617	0.193;0.507;0.507;0.64	B;B;B;B	0.31686	0.007;0.1;0.063;0.134	T	0.13229	-1.0517	10	0.30078	T	0.28	-15.7132	20.6282	0.99521	0.0:0.0:1.0:0.0	.	642;676;676;666	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	V	505;676;272;676;642;505;676;676	ENSP00000407165:A505V;ENSP00000422607:A676V;ENSP00000425098:A272V;ENSP00000281455:A676V;ENSP00000426244:A642V;ENSP00000405687:A505V;ENSP00000425006:A676V;ENSP00000426150:A676V	ENSP00000281455:A676V	A	-	2	0	ACSL1	185915343	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	6.666000	0.74446	2.871000	0.98454	0.655000	0.94253	GCG	0	NULL		0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	protein_coding	OTTHUMT00000361112.2	52	161	0	0.00	0	0	G	NM_001995	0	0		185678349	-1	no_errors	ENST00000281455	ensembl	human	known	74_37	missense	38	160	11.36	4.19	5	7	SNP	0.998	A
KCNQ5	56479	genome.wustl.edu	37	6	73879514	73879514	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr6:73879514G>A	ENST00000370398.1	+	11	1623	c.1514G>A	c.(1513-1515)tGc>tAc	p.C505Y	KCNQ5_ENST00000342056.2_Missense_Mutation_p.C524Y|KCNQ5_ENST00000402622.2_Missense_Mutation_p.C515Y|KCNQ5_ENST00000355635.3_Missense_Mutation_p.C506Y|KCNQ5_ENST00000403813.2_Missense_Mutation_p.C496Y|KCNQ5_ENST00000355194.4_Missense_Mutation_p.C505Y|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	505					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAAAAAGGATGCCAGTGTGAT	0.423																																					GBM(142;1375 1859 14391 23261 44706)		0											0													173.0	138.0	150.0					6																	73879514		2203	4300	6503	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1514G>A	6.37:g.73879514G>A	ENSP00000359425:p.Cys505Tyr		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.C515Y	ENST00000370398.1	37	c.1544	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280730	0.40294	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28;-6.28;-6.28	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.28400	0.141;0.21;0.068;0.171	B;B;B;B	0.37091	0.155;0.173;0.108;0.241	D	0.99895	1.1145	10	0.02654	T	1	.	19.295	0.94118	0.0:0.0:1.0:0.0	.	515;524;496;505	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	Y	524;524;505;505;515;506;496	ENSP00000345055:C524Y;ENSP00000347326:C505Y;ENSP00000359425:C505Y;ENSP00000385501:C515Y;ENSP00000347853:C506Y;ENSP00000384453:C496Y	ENSP00000345055:C524Y	C	+	2	0	KCNQ5	73936235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.726000	0.93360	0.655000	0.94253	TGC	0	pfam_K_chnl_volt-dep_KCNQ_C		0.423	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	95	234	0	0.00	0	0	G	NM_019842	0	0		73879514	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	115	196	10.85	10.50	14	23	SNP	1	A
LEP	3952	genome.wustl.edu	37	7	127892159	127892159	+	Missense_Mutation	SNP	G	G	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr7:127892159G>T	ENST00000308868.4	+	2	139	c.88G>T	c.(88-90)Gac>Tac	p.D30Y		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	30					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						AGTCCAAGATGACACCAAAAC	0.488																																							0											0													264.0	235.0	244.0					7																	127892159		2203	4300	6503	SO:0001583	missense	0				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.88G>T	7.37:g.127892159G>T	ENSP00000312652:p.Asp30Tyr		O15158|Q56A88	Missense_Mutation	SNP	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	p.D30Y	ENST00000308868.4	37	c.88	CCDS5800.1	7	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697336	0.48202	.	.	ENSG00000174697	ENST00000308868	T	0.77620	-1.11	4.96	4.96	0.65561	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000014	D	0.87406	0.6169	M	0.78049	2.395	0.46298	D	0.998973	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88914	0.3361	10	0.87932	D	0	-28.0029	13.7105	0.62665	0.0:0.0:1.0:0.0	.	30;30	A4D0Y8;P41159	.;LEP_HUMAN	Y	30	ENSP00000312652:D30Y	ENSP00000312652:D30Y	D	+	1	0	LEP	127679395	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	4.760000	0.62235	2.309000	0.77851	0.655000	0.94253	GAC	0	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin		0.488	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEP	protein_coding	OTTHUMT00000349174.1	65	184	0	0.00	0	0	G		0	0		127892159	1	no_errors	ENST00000308868	ensembl	human	known	74_37	missense	62	287	7.46	4.32	5	13	SNP	1	T
NCOA2	10499	genome.wustl.edu	37	8	71068207	71068207	+	Splice_Site	SNP	T	T	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr8:71068207T>G	ENST00000452400.2	-	11	2574	c.2393A>C	c.(2392-2394)cAg>cCg	p.Q798P	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	798					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AAAACTTACCTGGTCACCAGG	0.403			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		0		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													52.0	51.0	52.0					8																	71068207		1868	4114	5982	SO:0001630	splice_region_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2394+1A>C	8.37:g.71068207T>G			Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q798P	ENST00000452400.2	37	c.2393	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934404	0.34096	.	.	ENSG00000140396	ENST00000452400	T	0.01963	4.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	L	0.39245	1.2	0.80722	D	1	B	0.22800	0.075	B	0.23419	0.046	T	0.46871	-0.9160	10	0.87932	D	0	.	16.1429	0.81539	0.0:0.0:0.0:1.0	.	798	Q15596	NCOA2_HUMAN	P	798	ENSP00000399968:Q798P	ENSP00000399968:Q798P	Q	-	2	0	NCOA2	71230761	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.431000	0.66507	2.209000	0.71365	0.460000	0.39030	CAG	0	pirsf_Nuclear_rcpt_coactivator		0.403	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	protein_coding	OTTHUMT00000379696.1	35	225	0	0.00	0	0	T		0	0	Missense_Mutation	71068207	-1	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	52	238	18.75	17.30	12	50	SNP	1	G
GPRIN2	9721	genome.wustl.edu	37	10	46999615	46999615	+	Silent	SNP	C	C	G	rs200454713		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr10:46999615C>G	ENST00000374317.1	+	3	1008	c.735C>G	c.(733-735)ggC>ggG	p.G245G	GPRIN2_ENST00000374314.4_Silent_p.G245G	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	245										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGCTGGTGGCTGCTGCCATG	0.622																																							0											0													58.0	62.0	61.0					10																	46999615		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.735C>G	10.37:g.46999615C>G			Q5SVF0	Silent	SNP	NULL	p.G245	ENST00000374317.1	37	c.735	CCDS31192.1	10																																																																																			0	NULL		0.622	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	protein_coding	OTTHUMT00000047836.1	36	55	0	0.00	0	0	C	NM_014696	0	0		46999615	1	no_errors	ENST00000374314	ensembl	human	known	74_37	silent	28	63	15.15	4.55	5	3	SNP	0.023	G
DCLRE1A	9937	genome.wustl.edu	37	10	115609247	115609247	+	Silent	SNP	A	A	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr10:115609247A>C	ENST00000361384.2	-	2	2534	c.1617T>G	c.(1615-1617)ccT>ccG	p.P539P	DCLRE1A_ENST00000369305.1_Silent_p.P539P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	539	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAGACCAGAAGGCAATATTT	0.383								Other identified genes with known or suspected DNA repair function																															0											0													126.0	128.0	128.0					10																	115609247		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1617T>G	10.37:g.115609247A>C			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.P539	ENST00000361384.2	37	c.1617	CCDS7584.1	10																																																																																			0	NULL		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	71	202	0	0.00	0	0	A	NM_014881	0	0		115609247	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	silent	49	252	12.5	12.50	7	36	SNP	0.004	C
RAPGEF3	10411	genome.wustl.edu	37	12	48144924	48144924	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr12:48144924C>T	ENST00000449771.2	-	6	666	c.578G>A	c.(577-579)aGa>aAa	p.R193K	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R193K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R151K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R151K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R151K|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.R151K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.R193K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	193			R -> G (in dbSNP:rs2016123). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9853756, ECO:0000269|PubMed:9856955, ECO:0000269|Ref.4}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCATGAGTTCTCACGGGCTC	0.662																																							0											0													17.0	19.0	18.0					12																	48144924		2192	4268	6460	SO:0001583	missense	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.578G>A	12.37:g.48144924C>T	ENSP00000395708:p.Arg193Lys		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.R193K	ENST00000449771.2	37	c.578	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	C	1.273	-0.612602	0.03690	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	4.97	3.12	0.35913	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.139612	0.32640	N	0.005835	T	0.05090	0.0136	N	0.08118	0	0.24406	N	0.994683	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.40924	-0.9537	10	0.09590	T	0.72	.	5.4234	0.16413	0.1616:0.6675:0.0:0.1709	.	193;193	O95398-2;O95398	.;RPGF3_HUMAN	K	151;193;151;151;151;193;205;151;193;151	ENSP00000384521:R151K;ENSP00000395708:R193K;ENSP00000448619:R151K;ENSP00000171000:R151K;ENSP00000373864:R193K;ENSP00000448480:R151K;ENSP00000378764:R193K;ENSP00000446731:R151K	ENSP00000171000:R151K	R	-	2	0	RAPGEF3	46431191	0.001000	0.12720	0.003000	0.11579	0.114000	0.19823	0.616000	0.24344	1.239000	0.43787	-0.254000	0.11334	AGA	0	NULL		0.662	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	protein_coding	OTTHUMT00000257848.1	42	48	0	0.00	0	0	C	NM_006105	0	0		48144924	-1	no_errors	ENST00000389212	ensembl	human	known	74_37	missense	48	58	7.69	13.43	4	9	SNP	0.008	T
RAB27A	5873	genome.wustl.edu	37	15	55522664	55522664	+	Silent	SNP	C	C	A			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:55522664C>A	ENST00000396307.2	-	3	425	c.174G>T	c.(172-174)ccG>ccT	p.P58P	RAB27A_ENST00000564609.1_Silent_p.P58P|RAB27A_ENST00000569493.1_Silent_p.P58P|RAB27A_ENST00000336787.1_Silent_p.P58P	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	58					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TGGCTCCATCCGGCCCACTGG	0.478																																							0											0													76.0	76.0	76.0					15																	55522664		2193	4292	6485	SO:0001819	synonymous_variant	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.174G>T	15.37:g.55522664C>A			O00195|Q6FI40|Q9UIR9|Q9Y5U3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P58	ENST00000396307.2	37	c.174	CCDS10153.1	15																																																																																			0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.478	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	protein_coding	OTTHUMT00000254918.1	58	110	0	0.00	0	0	C	NM_004580, NM_183236	0	0		55522664	-1	no_errors	ENST00000336787	ensembl	human	known	74_37	silent	34	122	19.05	14.08	8	20	SNP	0.038	A
TBC1D2B	23102	genome.wustl.edu	37	15	78316874	78316874	+	Missense_Mutation	SNP	A	A	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:78316874A>C	ENST00000300584.3	-	6	1093	c.1094T>G	c.(1093-1095)gTt>gGt	p.V365G	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.V365G	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	365							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GAGCAGTCGAACAAGCTCCTG	0.512																																							0											0													38.0	42.0	41.0					15																	78316874		2195	4293	6488	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1094T>G	15.37:g.78316874A>C	ENSP00000300584:p.Val365Gly		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.V365G	ENST00000300584.3	37	c.1094	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.582130|4.582130	0.86748|0.86748	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.13657	.|2.58;2.57	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.060318	.|0.64402	.|D	.|0.000003	T|T	0.36110|0.36110	0.0955|0.0955	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;P	.|0.53885	.|0.963;0.938	.|P;P	.|0.58454	.|0.839;0.58	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.87932	.|D	.|0	.|.	14.8722|14.8722	0.70465|0.70465	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|365;365	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	V|G	247|365;365;253	.|ENSP00000387165:V365G;ENSP00000300584:V365G	.|ENSP00000300584:V365G	F|V	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103929|76103929	1.000000|1.000000	0.71417|0.71417	0.715000|0.715000	0.30552|0.30552	0.984000|0.984000	0.73092|0.73092	6.976000|6.976000	0.76135|0.76135	2.102000|2.102000	0.63906|0.63906	0.402000|0.402000	0.26972|0.26972	TTC|GTT	0	NULL		0.512	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	protein_coding	OTTHUMT00000328369.3	18	98	0	0.00	0	0	A	NM_015079	0	0		78316874	-1	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	20	111	16.67	5.13	4	6	SNP	0.99	C
RNF213	57674	genome.wustl.edu	37	17	78320135	78320135	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr17:78320135C>G	ENST00000582970.1	+	29	8143	c.8000C>G	c.(7999-8001)tCc>tGc	p.S2667C	RNF213_ENST00000336301.6_Missense_Mutation_p.S740C|RNF213_ENST00000508628.2_Missense_Mutation_p.S2716C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2667					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCTTTCTCTCCAAGTCCAGC	0.532																																							0											0													67.0	65.0	66.0					17																	78320135		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8000C>G	17.37:g.78320135C>G	ENSP00000464087:p.Ser2667Cys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S2667C	ENST00000582970.1	37	c.8000	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	0.578	-0.838152	0.02692	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24908	1.83	5.37	-5.08	0.02929	.	1.678060	0.02746	N	0.116879	T	0.11665	0.0284	N	0.01352	-0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.35325	-0.9793	10	0.62326	D	0.03	.	15.7568	0.78037	0.1348:0.6489:0.2163:0.0	.	740	Q63HN8	RN213_HUMAN	C	2667;2716;740	ENSP00000338218:S740C	ENSP00000338218:S740C	S	+	2	0	RNF213	75934730	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.989000	0.03736	-0.668000	0.05296	-0.344000	0.07964	TCC	0	superfamily_P-loop_NTPase		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	23	48	0	0.00	0	0	C	NM_020914	0	0		78320135	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	32	52	11.11	10.34	4	6	SNP	0	G
TUBB6	84617	genome.wustl.edu	37	18	12308715	12308715	+	Silent	SNP	C	C	T	rs376972319		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr18:12308715C>T	ENST00000317702.5	+	2	321	c.87C>T	c.(85-87)ggC>ggT	p.G29G	TUBB6_ENST00000591909.1_Silent_p.G29G|TUBB6_ENST00000586653.1_Silent_p.G29G|TUBB6_ENST00000592683.1_Silent_p.G29G|TUBB6_ENST00000591208.1_Silent_p.G29G|TUBB6_ENST00000590967.1_Silent_p.G29G			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	29					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGAGCACGGCATCGACCCGG	0.652																																							0											0								C		0,4406		0,0,2203	62.0	63.0	63.0		87	-2.0	1.0	18		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBB6	NM_032525.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		29/447	12308715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.87C>T	18.37:g.12308715C>T			B3KM76|Q9HA42	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.G29	ENST00000317702.5	37	c.87	CCDS11858.1	18																																																																																			0	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin		0.652	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	protein_coding	OTTHUMT00000254600.2	102	74	0	0.00	0	0	C	NM_032525	rs376972319	C->T		12308715	1	no_errors	ENST00000317702	ensembl	human	known	74_37	silent	76	67	11.63	5.63	10	4	SNP	0.995	T
NCAN	1463	genome.wustl.edu	37	19	19335003	19335003	+	Splice_Site	SNP	C	C	T			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr19:19335003C>T	ENST00000252575.6	+	4	748	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	217	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCGCACTGTTCGGTGAGGGGG	0.587																																							0											0													68.0	59.0	62.0					19																	19335003		2203	4300	6503	SO:0001630	splice_region_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.650+1C>T	19.37:g.19335003C>T			Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.R217W	ENST00000252575.6	37	c.649	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634263	0.67130	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.11930	2.73	4.75	2.43	0.29744	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.35040	N	0.003497	T	0.48642	0.1511	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61773	-0.6994	10	0.87932	D	0	-29.229	10.0326	0.42109	0.5059:0.4941:0.0:0.0	.	217	O14594	NCAN_HUMAN	W	231;217	ENSP00000252575:R217W	ENSP00000252575:R217W	R	+	1	2	NCAN	19196003	0.018000	0.18449	1.000000	0.80357	0.974000	0.67602	0.225000	0.17757	0.978000	0.38470	-0.314000	0.08810	CGG	0	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	38	100	0	0.00	0	0	C	NM_004386	0	0	Missense_Mutation	19335003	1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	43	114	13.73	10.16	7	13	SNP	0.87	T
FASTKD5	60493	genome.wustl.edu	37	20	3128199	3128199	+	Silent	SNP	A	A	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr20:3128199A>C	ENST00000380266.3	-	2	1839	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	506					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468																																							0											0													53.0	49.0	50.0					20																	3128199		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1518T>G	20.37:g.3128199A>C			Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T506	ENST00000380266.3	37	c.1518	CCDS13048.1	20																																																																																			0	NULL		0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	protein_coding	OTTHUMT00000077701.2	20	262	0	0.00	0	0	A	NM_021826	0	0		3128199	-1	no_errors	ENST00000380266	ensembl	human	known	74_37	silent	38	311	11.63	10.09	5	35	SNP	0.076	C
LDHC	3948	genome.wustl.edu	37	11	18451288	18451288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr11:18451288delC	ENST00000541669.1	+	4	360	c.249delC	c.(247-249)tacfs	p.Y83fs	LDHC_ENST00000280704.4_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000535809.1_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000537486.1_Frame_Shift_Del_p.Y83fs			P07864	LDHC_HUMAN	lactate dehydrogenase C	83					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTAGATTACAGTGTATCTG	0.383																																							0											0													69.0	60.0	63.0					11																	18451288		2199	4293	6492	SO:0001589	frameshift_variant	0			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.249delC	11.37:g.18451288delC	ENSP00000437783:p.Tyr83fs		D3DQY4|Q6GSG8|Q7Z7J4	Frame_Shift_Del	DEL	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.Y83fs	ENST00000541669.1	37	c.249	CCDS7840.1	11																																																																																			0	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	protein_coding	OTTHUMT00000395892.1	87	213	0	0.00	0	0	C	NM_017448	0	0		18451288	1	no_errors	ENST00000280704	ensembl	human	known	74_37	frame_shift_del	63	209	10	9.91	7	23	DEL	0.057	0
MT-ND2	4536	genome.wustl.edu	37	M	2487	2487	+	5'Flank	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:2487A>G	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TCGGCAAACCTTACCCCGCCT	0.468																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2487A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.468	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		388	10	0.26	0.00	1	0	A	YP_003024027	0	0		2487	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	459	2	7.07	0.00	35	0	SNP	NULL	G
MT-ND2	4536	genome.wustl.edu	37	M	2648	2648	+	5'Flank	SNP	T	T	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:2648T>C	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						gctccacgagggttcagctgt	0.483																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2648T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.483	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		680	5	0.15	0.00	1	0	T	YP_003024027	0	0		2648	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	759	2	15.82	0.00	143	0	SNP	NULL	C
MT-ND2	4536	genome.wustl.edu	37	M	2833	2833	+	5'Flank	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:2833A>G	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CCTCGGAGCAGAACCCAACCT	0.428																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2833A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		179	9	0	0.00	0	0	A	YP_003024027	rs3928312	A->G		2833	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	171	1	27.54	0.00	65	0	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	3209	3209	+	5'Flank	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:3209A>G	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATTATACCCACACCCACCCAA	0.413																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3209A>G	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.413	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		15	5	0	0.00	0	0	A	YP_003024028	0	0		3209	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	14	0	33.33	0.00	7	0	SNP	NULL	G
MT-CO2	4513	genome.wustl.edu	37	M	8157	8157	+	Missense_Mutation	SNP	T	T	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:8157T>C	ENST00000361739.1	+	1	572	c.572T>C	c.(571-573)gTa>gCa	p.V191A	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	191					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ACGACCGGGGGTATACTACGG	0.468																																							0											0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.572T>C	M.37:g.8157T>C	ENSP00000354876:p.Val191Ala		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.V191A	ENST00000361739.1	37	c.572		MT																																																																																			0	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2		0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		58	3	0	0.00	0	0	T	YP_003024029	0	0		8157	1	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	48	2	12.28	0.00	7	0	SNP	NULL	C
MT-ND6	4541	genome.wustl.edu	37	M	14587	14587	+	Silent	SNP	A	A	C			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:14587A>C	ENST00000361681.2	-	1	86	c.87T>G	c.(85-87)ggT>ggG	p.G29G	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	29					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ATCAGTACTAAACCCCCATAA	0.388																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.87T>G	M.37:g.14587A>C			Q34774|Q8HG30	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.G29	ENST00000361681.2	37	c.87		MT																																																																																			0	pfam_NADH_UbQ/plastoQ_OxRdtase_su6		0.388	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	protein_coding		322	2	0	0.00	0	0	A	YP_003024037	0	0		14587	-1	no_errors	ENST00000361681	ensembl	human	known	74_37	silent	339	0	23.48	0.00	104	0	SNP	NULL	C
MT-ND6	4541	genome.wustl.edu	37	M	14641	14641	+	Silent	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrM:14641A>G	ENST00000361681.2	-	1	32	c.33T>C	c.(31-33)ggT>ggC	p.G11G	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	11					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCCATTACTAAACCCACACTC	0.403																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.33T>C	M.37:g.14641A>G			Q34774|Q8HG30	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.G11	ENST00000361681.2	37	c.33		MT																																																																																			0	NULL		0.403	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	protein_coding		380	3	0	0.00	0	0	A	YP_003024037	0	0		14641	-1	no_errors	ENST00000361681	ensembl	human	known	74_37	silent	389	1	31.27	0.00	182	0	SNP	NULL	G
CCDC180	100499483	genome.wustl.edu	37	9	100092960	100092960	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr9:100092960A>G	ENST00000357054.1	+	32	3669	c.2734A>G	c.(2734-2736)Aag>Gag	p.K912E	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K773E|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.K770E|CCDC180_ENST00000375202.2_Missense_Mutation_p.K773E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	912	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggaagatgagaaggaggaaga	0.507																																							0											0													49.0	56.0	54.0					9																	100092960		2203	4298	6501	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2734A>G	9.37:g.100092960A>G	ENSP00000349562:p.Lys912Glu		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.K773E	ENST00000357054.1	37	c.2317		9	.	.	.	.	.	.	.	.	.	.	A	9.191	1.026083	0.19512	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.08193	3.58;3.12;3.58;3.12	4.3	-0.108	0.13588	.	1.436920	0.03940	N	0.286782	T	0.02688	0.0081	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.36890	-0.9729	10	0.02654	T	1	-3.3204	3.0393	0.06133	0.2633:0.0:0.5615:0.1752	.	796;770;912;773;912	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	E	912;773;770;796;773	ENSP00000349562:K912E;ENSP00000364348:K773E;ENSP00000414000:K770E;ENSP00000434727:K773E	ENSP00000349562:K912E	K	+	1	0	C9orf174	99132781	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	-0.850000	0.04317	0.225000	0.20959	0.454000	0.30748	AAG	0	NULL		0.507	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	protein_coding		34	18	0	0.00	0	0	A	NM_020893	0	0		100092960	1	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	49	9	7.55	0.00	4	0	SNP	0	G
IGDCC4	57722	genome.wustl.edu	37	15	65678319	65678319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:65678319delG	ENST00000352385.2	-	18	3239	c.3030delC	c.(3028-3030)cccfs	p.P1010fs	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1010						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGGGGCTGGGGGGGCCAA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0										27,3789		4,19,1885	8.0	10.0	10.0			3.7	0.2	15		10	69,7555		22,25,3765	no	frameshift	IGDCC4	NM_020962.1		26,44,5650	A1A1,A1R,RR		0.905,0.7075,0.8392			65678319	96,11344	2052	4102	6154	SO:0001589	frameshift_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3030delC	15.37:g.65678319delG	ENSP00000319623:p.Pro1010fs	1086	Q9HCE4	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1011fs	ENST00000352385.2	37	c.3030	CCDS10206.1	15																																																																																			0	NULL		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	protein_coding	OTTHUMT00000256825.2	26	3	0	0.00	0	0	G	NM_020962	0	0		65678319	-1	no_errors	ENST00000352385	ensembl	human	novel	74_37	frame_shift_del	22	9	18.52	0.00	5	0	DEL	0.001	0
