#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AMT	275	genome.wustl.edu	37	3	49455277	49455277	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr3:49455277A>T	ENST00000273588.3	-	8	1309	c.1007T>A	c.(1006-1008)aTc>aAc	p.I336N	AMT_ENST00000395338.2_Missense_Mutation_p.I336N|AMT_ENST00000458307.2_Missense_Mutation_p.I292N|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.I239N|AMT_ENST00000538581.1_Missense_Mutation_p.I280N	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	336					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CATGTTCAGGATGGGACTGTG	0.627																																						dbGAP											0													76.0	73.0	74.0					3																	49455277		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1007T>A	3.37:g.49455277A>T	ENSP00000273588:p.Ile336Asn		A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT	p.I336N	ENST00000273588.3	37	c.1007	CCDS2797.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.2|22.2	4.252425|4.252425	0.80135|0.80135	.|.	.|.	ENSG00000145020|ENSG00000145020	ENST00000427987|ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	.|T;T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35;-1.35	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Glycine cleavage T-protein, C-terminal barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92335|0.92335	0.7568|0.7568	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.989;0.995;0.998;0.993	D|D	0.94097|0.94097	0.7358|0.7358	5|10	.|0.87932	.|D	.|0	-11.13|-11.13	12.2769|12.2769	0.54741|0.54741	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|280;292;336;336	.|B4DE61;B4DJQ0;E9PBG1;P48728	.|.;.;.;GCST_HUMAN	Q|N	333|336;292;336;280;239	.|ENSP00000378747:I336N;ENSP00000415619:I292N;ENSP00000273588:I336N;ENSP00000443200:I280N;ENSP00000440672:I239N	.|ENSP00000273588:I336N	H|I	-|-	3|2	2|0	AMT|AMT	49430281|49430281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.896000|0.896000	0.52359|0.52359	8.371000|8.371000	0.90123|0.90123	1.795000|1.795000	0.52594|0.52594	0.379000|0.379000	0.24179|0.24179	CAT|ATC	AMT	-	pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT	ENSG00000145020		0.627	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMT	HGNC	protein_coding	OTTHUMT00000346216.2	37	0.00	0	A	NM_000481		49455277	49455277	-1	no_errors	ENST00000273588	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139862242	139862243	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr5:139862242_139862243insA	ENST00000360839.2	+	11	2014_2015	c.1860_1861insA	c.(1861-1863)attfs	p.I621fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.I621fs|ANKHD1_ENST00000297183.6_Frame_Shift_Ins_p.I621fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	621						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGTTTCTTATTAGCAAAGG	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1861dupA	5.37:g.139862243_139862243dupA	ENSP00000354085:p.Ile621fs		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.I620fs	ENST00000360839.2	37	c.1860_1861	CCDS4225.1	5																																																																																			ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.356	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	326	0.00	0	-	NM_017747		139862242	139862243	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	frame_shift_ins	272	27.66	104	INS	0.993:1.000	A
ANKRD34A	284615	genome.wustl.edu	37	1	145473655	145473655	+	Silent	SNP	C	C	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr1:145473655C>T	ENST00000323397.4	+	4	1620	c.327C>T	c.(325-327)caC>caT	p.H109H	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	109						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCGAGATCACGCGGGCGCCT	0.721																																						dbGAP											0													21.0	23.0	22.0					1																	145473655		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.327C>T	1.37:g.145473655C>T			B3KSU3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H109	ENST00000323397.4	37	c.327	CCDS30829.1	1																																																																																			ANKRD34A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000181039		0.721	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	12	0.00	0	C			145473655	145473655	+1	no_errors	ENST00000323397	ensembl	human	known	69_37n	silent	18	48.57	17	SNP	1.000	T
CBR1	873	genome.wustl.edu	37	21	37445117	37445117	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr21:37445117G>T	ENST00000290349.6	+	3	946	c.771G>T	c.(769-771)ttG>ttT	p.L257F	SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	257					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	TGGCCCTTTTGCCCCCAGATG	0.572																																						dbGAP											0													62.0	64.0	64.0					21																	37445117		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.771G>T	21.37:g.37445117G>T	ENSP00000290349:p.Leu257Phe		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L257F	ENST00000290349.6	37	c.771	CCDS13641.1	21	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703332	0.68501	.	.	ENSG00000159228	ENST00000290349	T	0.10477	2.87	5.85	0.781	0.18561	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02098	-1.1214	10	0.87932	D	0	8.6031	4.039	0.09743	0.1245:0.1099:0.5386:0.227	.	257	P16152	CBR1_HUMAN	F	257	ENSP00000290349:L257F	ENSP00000290349:L257F	L	+	3	2	CBR1	36366987	1.000000	0.71417	0.877000	0.34402	0.938000	0.57974	0.493000	0.22451	0.084000	0.17077	0.655000	0.94253	TTG	CBR1	-	NULL	ENSG00000159228		0.572	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR1	HGNC	protein_coding	OTTHUMT00000194633.2	55	0.00	0	G			37445117	37445117	+1	no_errors	ENST00000290349	ensembl	human	known	69_37n	missense	47	28.79	19	SNP	0.992	T
HOXA1	3198	genome.wustl.edu	37	7	27134229	27134229	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr7:27134229G>A	ENST00000343060.4	-	2	899	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	280					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCATTCGGCGGTTCTGGAAC	0.577																																						dbGAP											0													107.0	86.0	93.0					7																	27134229		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.838C>T	7.37:g.27134229G>A	ENSP00000343246:p.Arg280Cys		A4D184|B2R8U7|O43363	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R280C	ENST00000343060.4	37	c.838	CCDS5401.1	7	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891977	0.72524	.	.	ENSG00000105991	ENST00000343060	D	0.97831	-4.56	5.31	5.31	0.75309	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.094256	0.64402	D	0.000001	D	0.99393	0.9786	H	0.99834	4.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97979	1.0348	10	0.87932	D	0	.	13.8923	0.63747	0.0:0.0:0.8477:0.1523	.	280	P49639	HXA1_HUMAN	C	280	ENSP00000343246:R280C	ENSP00000343246:R280C	R	-	1	0	HOXA1	27100754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.471000	0.73562	2.495000	0.84180	0.655000	0.94253	CGC	HOXA1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000105991		0.577	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358454.1	150	0.00	0	G			27134229	27134229	-1	no_errors	ENST00000343060	ensembl	human	known	69_37n	missense	172	29.22	71	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36662741	36662741	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr8:36662741G>C	ENST00000399881.3	+	4	443	c.406G>C	c.(406-408)Gac>Cac	p.D136H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	136					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATGAAGACAAAACCAT	0.348																																						dbGAP											0													174.0	157.0	162.0					8																	36662741		1837	4095	5932	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.406G>C	8.37:g.36662741G>C	ENSP00000382770:p.Asp136His			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.D136H	ENST00000399881.3	37	c.406	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074452	0.36566	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.48522	0.81;0.81	5.46	4.57	0.56435	.	0.192298	0.31221	U	0.008032	T	0.61375	0.2342	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.63825	-0.6549	10	0.87932	D	0	-4.9315	13.4843	0.61355	0.0781:0.0:0.9219:0.0	.	136	A8MYU2	KCNU1_HUMAN	H	136	ENSP00000429951:D136H;ENSP00000382770:D136H	ENSP00000382770:D136H	D	+	1	0	KCNU1	36781899	1.000000	0.71417	0.236000	0.24074	0.006000	0.05464	5.102000	0.64572	2.572000	0.86782	0.655000	0.94253	GAC	KCNU1	-	NULL	ENSG00000215262		0.348	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	417	0.00	0	G	NM_001031836		36662741	36662741	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	462	58.40	650	SNP	0.936	C
KIAA1279	26128	genome.wustl.edu	37	10	70748750	70748750	+	Silent	SNP	T	T	C			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr10:70748750T>C	ENST00000361983.4	+	1	264	c.162T>C	c.(160-162)ccT>ccC	p.P54P		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	54					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCCCTGCGCCTGAGGACGAGG	0.677											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													47.0	55.0	52.0					10																	70748750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.162T>C	10.37:g.70748750T>C		1124	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	pfam_KBP	p.P54	ENST00000361983.4	37	c.162	CCDS7284.1	10																																																																																			KIAA1279	-	NULL	ENSG00000198954		0.677	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	35	0.00	0	T	NM_015634		70748750	70748750	+1	no_errors	ENST00000361983	ensembl	human	known	69_37n	silent	24	31.43	11	SNP	0.000	C
MORC1	27136	genome.wustl.edu	37	3	108819313	108819313	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr3:108819313G>A	ENST00000483760.1	-	5	308	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.R89W					MORC family CW-type zinc finger 1									p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGAT	0.403																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											185.0	184.0	184.0					3																	108819313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.265C>T	3.37:g.108819313G>A	ENSP00000417282:p.Arg89Trp			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.R89W	ENST00000483760.1	37	c.265		3	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538834	0.65085	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95272	-3.66;-3.66	5.32	4.45	0.53987	ATPase-like, ATP-binding domain (3);	0.312347	0.23631	N	0.046123	D	0.97748	0.9261	H	0.95437	3.67	0.34499	D	0.705873	D;D	0.89917	1.0;0.998	D;D	0.69824	0.966;0.93	D	0.99964	1.1808	10	0.87932	D	0	-3.4591	11.061	0.47946	0.0:0.0:0.6625:0.3375	.	89;89	E7ERX1;Q86VD1	.;MORC1_HUMAN	W	89	ENSP00000232603:R89W;ENSP00000417282:R89W	ENSP00000232603:R89W	R	-	1	2	MORC1	110302003	1.000000	0.71417	0.959000	0.39883	0.937000	0.57800	2.525000	0.45598	1.479000	0.48272	-0.152000	0.13540	CGG	MORC1	-	superfamily_ATPase-like_ATP-bd	ENSG00000114487		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	316	0.00	0	G			108819313	108819313	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	missense	311	25.95	109	SNP	0.974	A
MUC15	143662	genome.wustl.edu	37	11	26584710	26584710	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr11:26584710G>A	ENST00000455601.2	-	3	915	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000436318.2_Missense_Mutation_p.T293M|MUC15_ENST00000529533.1_Missense_Mutation_p.T293M|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	266					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AAATGAATCCGTTTTCCTTTT	0.393																																						dbGAP											0													117.0	119.0	118.0					11																	26584710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.797C>T	11.37:g.26584710G>A	ENSP00000397339:p.Thr266Met		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.T293M	ENST00000455601.2	37	c.878	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505843	0.44558	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000529533	T;T;T	0.26518	1.75;1.73;1.73	4.52	-0.183	0.13284	.	0.441624	0.19223	N	0.119636	T	0.11196	0.0273	L	0.27053	0.805	0.18873	N	0.999989	P;P	0.37398	0.593;0.593	B;B	0.24848	0.056;0.056	T	0.16988	-1.0384	10	0.66056	D	0.02	-1.4965	3.6308	0.08131	0.0809:0.2526:0.4092:0.2573	.	266;293	Q8N387;E9PII6	MUC15_HUMAN;.	M	266;293;293	ENSP00000397339:T266M;ENSP00000416753:T293M;ENSP00000431983:T293M	ENSP00000416753:T293M	T	-	2	0	MUC15	26541286	0.035000	0.19736	0.271000	0.24616	0.908000	0.53690	0.250000	0.18235	0.063000	0.16370	-0.898000	0.02899	ACG	MUC15	-	NULL	ENSG00000169550		0.393	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	163	0.00	0	G	NM_145650		26584710	26584710	-1	no_errors	ENST00000436318	ensembl	human	known	69_37n	missense	131	28.80	53	SNP	0.048	A
PARP15	165631	genome.wustl.edu	37	3	122296675	122296675	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr3:122296675C>T	ENST00000464300.2	+	1	227	c.161C>T	c.(160-162)tCc>tTc	p.S54F	PARP15_ENST00000483793.1_Missense_Mutation_p.S54F	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CGGAAGGCCTCCCGGCGCTCT	0.706																																						dbGAP											0													23.0	23.0	23.0					3																	122296675		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.161C>T	3.37:g.122296675C>T	ENSP00000417214:p.Ser54Phe		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S54F	ENST00000464300.2	37	c.161	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223047	0.22457	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.16597	2.65;2.33	3.31	-0.891	0.10573	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.21782	N	0.999542	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43278	-0.9401	9	0.09843	T	0.71	.	4.9767	0.14144	0.0:0.509:0.1596:0.3314	.	54;32	C9J7L3;Q460N3	.;PAR15_HUMAN	F	54	ENSP00000417214:S54F;ENSP00000417785:S54F	ENSP00000417214:S54F	S	+	2	0	PARP15	123779365	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.051000	0.11885	-0.352000	0.08237	-1.134000	0.01955	TCC	PARP15	-	NULL	ENSG00000173200		0.706	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	59	0.00	0	C	NM_152615		122296675	122296675	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	0.002	T
PBX4	80714	genome.wustl.edu	37	19	19681029	19681029	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr19:19681029A>G	ENST00000251203.9	-	4	807	c.521T>C	c.(520-522)aTt>aCt	p.I174T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	174					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CATGCGCTCAATCTCCTTAGG	0.612																																						dbGAP											0													86.0	65.0	72.0					19																	19681029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.521T>C	19.37:g.19681029A>G	ENSP00000251203:p.Ile174Thr		A5D8Y0|B3KUK9	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I174T	ENST00000251203.9	37	c.521	CCDS12406.1	19	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000207	0.54147	.	.	ENSG00000105717	ENST00000251203	T	0.35973	1.28	3.72	3.72	0.42706	PBX (1);	0.181905	0.47455	D	0.000228	T	0.45796	0.1360	M	0.65498	2.005	0.58432	D	0.999998	P	0.42078	0.77	P	0.50270	0.636	T	0.39375	-0.9617	10	0.39692	T	0.17	-9.2511	10.4773	0.44672	1.0:0.0:0.0:0.0	.	174	Q9BYU1	PBX4_HUMAN	T	174	ENSP00000251203:I174T	ENSP00000251203:I174T	I	-	2	0	PBX4	19542029	1.000000	0.71417	0.729000	0.30791	0.694000	0.40290	7.969000	0.87988	1.573000	0.49748	0.414000	0.27820	ATT	PBX4	-	pfam_PBX	ENSG00000105717		0.612	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX4	HGNC	protein_coding	OTTHUMT00000417784.6	63	0.00	0	A			19681029	19681029	-1	no_errors	ENST00000251203	ensembl	human	known	69_37n	missense	88	21.93	25	SNP	0.990	G
PDXDC1	23042	genome.wustl.edu	37	16	15128373	15128373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr16:15128373delG	ENST00000396410.4	+	21	2062	c.1965delG	c.(1963-1965)cagfs	p.Q655fs	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Frame_Shift_Del_p.Q627fs|PDXDC1_ENST00000447912.2_Frame_Shift_Del_p.Q564fs|PDXDC1_ENST00000569715.1_Frame_Shift_Del_p.Q628fs|PDXDC1_ENST00000563679.1_Frame_Shift_Del_p.Q673fs|PDXDC1_ENST00000325823.7_Frame_Shift_Del_p.Q640fs	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	655					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCCGGTCCAGGCTTTACAGA	0.557																																						dbGAP											0													150.0	147.0	148.0					16																	15128373		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1965delG	16.37:g.15128373delG	ENSP00000379691:p.Gln655fs		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A656fs	ENST00000396410.4	37	c.1965	CCDS32393.1	16																																																																																			PDXDC1	-	NULL	ENSG00000179889		0.557	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	HGNC	protein_coding	OTTHUMT00000389065.2	244	0.00	0	G	NM_015027		15128373	15128373	+1	no_errors	ENST00000396410	ensembl	human	known	69_37n	frame_shift_del	247	26.18	89	DEL	0.823	-
PNLIP	5406	genome.wustl.edu	37	10	118313248	118313248	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr10:118313248G>A	ENST00000369221.2	+	6	497	c.469G>A	c.(469-471)Ggt>Agt	p.G157S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	157					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GTCGGCGTTCGGTTACTCACC	0.502																																						dbGAP											0													79.0	66.0	70.0					10																	118313248		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.469G>A	10.37:g.118313248G>A	ENSP00000358223:p.Gly157Ser		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.G157S	ENST00000369221.2	37	c.469	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875104	0.33162	.	.	ENSG00000175535	ENST00000369221	D	0.93189	-3.18	6.07	3.22	0.36961	Lipase, N-terminal (1);	1.030830	0.07670	N	0.935222	D	0.91365	0.7276	M	0.61703	1.905	0.09310	N	1	B	0.27951	0.195	B	0.26770	0.073	T	0.81011	-0.1126	10	0.35671	T	0.21	.	9.412	0.38498	0.1336:0.1184:0.748:0.0	.	157	P16233	LIPP_HUMAN	S	157	ENSP00000358223:G157S	ENSP00000358223:G157S	G	+	1	0	PNLIP	118303238	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.163000	0.16520	0.894000	0.36317	-0.126000	0.14955	GGT	PNLIP	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000175535		0.502	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	107	0.00	0	G	NM_000936		118313248	118313248	+1	no_errors	ENST00000369221	ensembl	human	known	69_37n	missense	105	23.36	32	SNP	0.002	A
RAG2	5897	genome.wustl.edu	37	11	36615502	36615502	+	Missense_Mutation	SNP	G	G	A	rs193922574		TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr11:36615502G>A	ENST00000311485.3	-	2	378	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	73					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GCTGGGTAGCGAAGAGGAGGG	0.448									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													120.0	127.0	125.0					11																	36615502		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.217C>T	11.37:g.36615502G>A	ENSP00000308620:p.Arg73Cys		A8K9E9|Q8TBL4	Missense_Mutation	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.R73C	ENST00000311485.3	37	c.217	CCDS7903.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585203	0.46110	.	.	ENSG00000175097	ENST00000311485;ENST00000529083	D;D	0.94457	-1.78;-3.43	5.83	5.83	0.93111	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98459	1.0595	10	0.72032	D	0.01	-14.0314	14.9028	0.70692	0.0:0.0:0.8568:0.1432	.	73	P55895	RAG2_HUMAN	C	73	ENSP00000308620:R73C;ENSP00000436327:R73C	ENSP00000308620:R73C	R	-	1	0	RAG2	36572078	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	6.300000	0.72776	2.759000	0.94783	0.650000	0.86243	CGC	RAG2	-	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000175097		0.448	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1	338	0.00	0	G	NM_000536		36615502	36615502	-1	no_errors	ENST00000311485	ensembl	human	known	69_37n	missense	357	22.00	101	SNP	1.000	A
SH3BP5L	80851	genome.wustl.edu	37	1	249107351	249107351	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr1:249107351G>A	ENST00000366472.5	-	6	1777	c.548C>T	c.(547-549)gCg>gTg	p.A183V	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.A151V	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	183										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCTTCCTCCGCCTCATTCAC	0.642																																						dbGAP											0													36.0	31.0	33.0					1																	249107351		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.548C>T	1.37:g.249107351G>A	ENSP00000355428:p.Ala183Val		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.A183V	ENST00000366472.5	37	c.548	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718094	0.68844	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.76448	-1.02	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	M	0.77820	2.39	0.80722	D	1	P;D;D;D	0.89917	0.946;0.98;0.98;1.0	P;P;P;D	0.87578	0.475;0.563;0.764;0.998	D	0.88600	0.3149	10	0.66056	D	0.02	-16.3718	13.7287	0.62774	0.0:0.0:1.0:0.0	.	151;76;183;41	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	V	183;151	ENSP00000412203:A151V	ENSP00000355428:A183V	A	-	2	0	SH3BP5L	247073974	1.000000	0.71417	0.967000	0.41034	0.423000	0.31445	8.393000	0.90182	2.156000	0.67533	0.467000	0.42956	GCG	SH3BP5L	-	pfam_SH3-bd_5	ENSG00000175137		0.642	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1	60	0.00	0	G	NM_030645		249107351	249107351	-1	no_errors	ENST00000366472	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	1.000	A
SLC19A1	6573	genome.wustl.edu	37	21	46951971	46951971	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr21:46951971G>A	ENST00000311124.4	-	3	433	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SLC19A1_ENST00000380010.4_Missense_Mutation_p.P94L|SLC19A1_ENST00000485649.2_Missense_Mutation_p.P54L|SLC19A1_ENST00000567670.1_Missense_Mutation_p.P94L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	94					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CAGCAGCACCGGCGTGTAGCG	0.647																																						dbGAP											0													52.0	46.0	48.0					21																	46951971		2201	4298	6499	-	-	-	SO:0001583	missense	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.281C>T	21.37:g.46951971G>A	ENSP00000308895:p.Pro94Leu		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.P94L	ENST00000311124.4	37	c.281	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622599	0.66787	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96457	0.9338	10	0.72032	D	0.01	-56.6897	17.1012	0.86651	0.0:0.0:1.0:0.0	.	54;116;94;94	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	L	94;94;54;94;94	ENSP00000308895:P94L;ENSP00000369347:P94L;ENSP00000441772:P54L;ENSP00000401850:P94L;ENSP00000411345:P94L	ENSP00000308895:P94L	P	-	2	0	SLC19A1	45776399	1.000000	0.71417	0.973000	0.42090	0.012000	0.07955	9.323000	0.96364	2.460000	0.83146	0.462000	0.41574	CCG	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.647	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	20	0.00	0	G			46951971	46951971	-1	no_errors	ENST00000311124	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	A
SLC47A2	146802	genome.wustl.edu	37	17	19607404	19607404	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr17:19607404C>T	ENST00000325411.5	-	11	1155	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	SLC47A2_ENST00000350657.5_Missense_Mutation_p.V347I|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	369					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	ACGCCCGAGACGGCCGAGCGC	0.632																																						dbGAP											0													43.0	42.0	42.0					17																	19607404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1105G>A	17.37:g.19607404C>T	ENSP00000326671:p.Val369Ile		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.V369I	ENST00000325411.5	37	c.1105	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	C	2.760	-0.258112	0.05791	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.27890	1.64;1.64;1.64	4.4	-8.79	0.00820	.	0.667430	0.14431	N	0.320023	T	0.07593	0.0191	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.22208	-1.0223	10	0.10902	T	0.67	-5.4098	1.3667	0.02202	0.187:0.1562:0.186:0.4708	.	333;347;369	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	I	347;369;284;333	ENSP00000338084:V347I;ENSP00000326671:V369I;ENSP00000391848:V333I	ENSP00000326671:V369I	V	-	1	0	SLC47A2	19547996	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.117000	0.01326	-2.775000	0.00363	-0.357000	0.07601	GTC	SLC47A2	-	pfam_MATE,tigrfam_MATE	ENSG00000180638		0.632	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	28	0.00	0	C	NM_152908		19607404	19607404	-1	no_errors	ENST00000325411	ensembl	human	known	69_37n	missense	33	37.74	20	SNP	0.000	T
STRN3	29966	genome.wustl.edu	37	14	31388247	31388247	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr14:31388247G>C	ENST00000357479.5	-	9	1361	c.1165C>G	c.(1165-1167)Cct>Gct	p.P389A	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000355683.5_Intron	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	389					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTCCTGAAGGGATGTGGGGC	0.428																																						dbGAP											0													202.0	195.0	197.0					14																	31388247		1941	4148	6089	-	-	-	SO:0001583	missense	0				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1165C>G	14.37:g.31388247G>C	ENSP00000350071:p.Pro389Ala		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P389A	ENST00000357479.5	37	c.1165	CCDS41938.1	14	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510066	0.27036	.	.	ENSG00000196792	ENST00000357479;ENST00000554991	T	0.15834	2.39	4.67	3.78	0.43462	.	0.180869	0.48286	D	0.000191	T	0.11067	0.0270	L	0.38175	1.15	0.44175	D	0.996981	P	0.34977	0.478	B	0.30105	0.111	T	0.03887	-1.0995	10	0.06494	T	0.89	-12.6315	12.9435	0.58359	0.0794:0.0:0.9206:0.0	.	389	Q13033	STRN3_HUMAN	A	389;70	ENSP00000350071:P389A	ENSP00000350071:P389A	P	-	1	0	STRN3	30457998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.199000	0.58426	1.089000	0.41292	-0.225000	0.12378	CCT	STRN3	-	NULL	ENSG00000196792		0.428	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STRN3	HGNC	protein_coding	OTTHUMT00000409713.1	304	0.00	0	G	NM_014574		31388247	31388247	-1	no_errors	ENST00000357479	ensembl	human	known	69_37n	missense	143	46.04	122	SNP	1.000	C
TYW3	127253	genome.wustl.edu	37	1	75202299	75202299	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr1:75202299A>T	ENST00000370867.3	+	2	337	c.248A>T	c.(247-249)gAt>gTt	p.D83V	TYW3_ENST00000479111.1_De_novo_Start_OutOfFrame|TYW3_ENST00000457880.2_Missense_Mutation_p.D83V|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	83					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TGTGTAAAAGATGATGTGGTA	0.244																																						dbGAP											0													40.0	47.0	45.0					1																	75202299		2197	4280	6477	-	-	-	SO:0001583	missense	0			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.248A>T	1.37:g.75202299A>T	ENSP00000359904:p.Asp83Val		B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	p.D83V	ENST00000370867.3	37	c.248	CCDS666.1	1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902573	0.72754	.	.	ENSG00000162623	ENST00000457880;ENST00000370867	T;T	0.33438	1.41;1.41	5.71	5.71	0.89125	tRNA wybutosine-synthesizing protein (2);	0.348757	0.35677	N	0.003051	T	0.44603	0.1301	M	0.79805	2.47	0.80722	D	1	D;B	0.59767	0.986;0.412	P;B	0.59424	0.857;0.345	T	0.46470	-0.9189	10	0.45353	T	0.12	-13.4454	14.9623	0.71166	1.0:0.0:0.0:0.0	.	83;83	E9PGR7;Q6IPR3	.;TYW3_HUMAN	V	83	ENSP00000407025:D83V;ENSP00000359904:D83V	ENSP00000359904:D83V	D	+	2	0	TYW3	74974887	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.464000	0.66719	2.169000	0.68431	0.477000	0.44152	GAT	TYW3	-	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	ENSG00000162623		0.244	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	HGNC	protein_coding	OTTHUMT00000026573.1	136	0.00	0	A	NM_138467		75202299	75202299	+1	no_errors	ENST00000370867	ensembl	human	known	69_37n	missense	87	20.18	22	SNP	1.000	T
UEVLD	55293	genome.wustl.edu	37	11	18568489	18568489	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr11:18568489G>C	ENST00000396197.3	-	8	852	c.824C>G	c.(823-825)gCc>gGc	p.A275G	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.A237G|UEVLD_ENST00000320750.6_Missense_Mutation_p.A253G|UEVLD_ENST00000379387.4_Missense_Mutation_p.A253G|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Missense_Mutation_p.A275G	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGACAAGGGCTCTGAACAT	0.448																																						dbGAP											0													160.0	147.0	151.0					11																	18568489		2199	4293	6492	-	-	-	SO:0001583	missense	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.824C>G	11.37:g.18568489G>C	ENSP00000379500:p.Ala275Gly			Missense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.A275G	ENST00000396197.3	37	c.824	CCDS41624.1	11	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909524	0.33721	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.75	2.64	0.31445	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.154762	0.56097	D	0.000022	T	0.62332	0.2419	N	0.00890	-1.11	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.60611	-0.7229	10	0.21014	T	0.42	-4.3137	3.3909	0.07289	0.0827:0.3059:0.3843:0.2272	.	253;253;275;275	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	G	275;237;275;253;253;52	ENSP00000442974:A275G;ENSP00000441092:A237G;ENSP00000379500:A275G;ENSP00000323353:A253G;ENSP00000368697:A253G	ENSP00000323353:A253G	A	-	2	0	UEVLD	18525065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.317000	0.51968	2.725000	0.93324	0.655000	0.94253	GCC	UEVLD	-	pfam_Lactate/malate_DH_N	ENSG00000151116		0.448	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395923.2	207	0.00	0	G	NM_018314		18568489	18568489	-1	no_errors	ENST00000396197	ensembl	human	known	69_37n	missense	181	31.44	83	SNP	0.965	C
WDR6	11180	genome.wustl.edu	37	3	49050454	49050455	+	Missense_Mutation	DNP	GC	GC	AT	rs201538690		TCGA-E2-A15F-01A-11D-A10Y-09	TCGA-E2-A15F-10A-01D-A110-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	33edf937-b09f-49ec-8f4c-e05dee7ece1f	282ccab4-f257-4ee5-832b-6b690291e6bb	g.chr3:49050454_49050455GC>AT	ENST00000608424.1	+	2	1526_1527	c.1487_1488GC>AT	c.(1486-1488)tGC>tAT	p.C496Y	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.C445Y|WDR6_ENST00000395474.3_Missense_Mutation_p.C526Y			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	496					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGCACACATGCAGTGCCTTCC	0.609																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	Exception_encountered	3.37:g.49050454_49050455delinsAT	ENSP00000477389:p.Cys496Tyr		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation|Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C526Y|p.C526	ENST00000608424.1	37	c.1577|c.1578		3																																																																																			WDR6	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat	ENSG00000178252		0.609	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	82	0.00	0	G|C			49050454|49050455	49050454|49050455	+1	no_errors	ENST00000395474	ensembl	human	known	69_37n	missense|silent	83|84	30.25|29.41	36|35	SNP	0.999|0.858	A|T
